Gene Detail

Gene Symbol RUNX1
Synonyms AML1 | AML1-EVI-1 | AMLCR1 | CBF2alpha | CBFA2 | EVI-1 | PEBP2aB | PEBP2alpha
Gene Description RUNX1, runt-related transcription factor 1, is a transcription factor that binds to core binding factor beta (CBFB) and plays a role in hematopoiesis (PMID: 22150309, PMID: 23180629). RUNX1 mutations and translocations have been implicated in several hematologic cancers (PMID: 22150309, PMID: 30289875).
Entrez Id 861
Chromosome 21
Map Location 21q22.12
Canonical Transcript NM_001001890

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
F89L missense unknown RUNX1 F89L lies within the Runt domain of the Runx1 protein (UniProt.org). F89L has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
R49S missense loss of function - predicted RUNX1 R49S does not lie within any known functional domains of the Runx1 protein (UniProt.org). R49S results in a loss of binding to Mll but demonstrates transcriptional activity similar to wild-type Runx1 in culture (PMID: 23817177).
E111_S114dup duplication loss of function - predicted RUNX1 E111_S114dup indicates the insertion of 4 duplicate amino acids, glutamic acid (E)-111 through serine(S)-114, in the Runt domain of the Runx1 protein (UniProt.org). E111_S114dup is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcription activity in culture (PMID: 25840971).
K83N missense loss of function - predicted RUNX1 K83N lies within the DNA binding region of the Runx1 protein (UniProt.org). K83N has not been biochemically characterized, but is predicted to confer a loss of function to the Runx1 protein as demonstrated by failure to induce senescence-like growth arrest in cell culture as compared to wild-type (PMID: 19448675).
G100D missense unknown RUNX1 G100D lies within the Runt domain of the Runx1 protein (UniProt.org). G100D has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
G324Dfs*242 frameshift loss of function - predicted RUNX1 G324Dfs*242 indicates a shift in the reading frame starting at amino acid 324 and terminating 242 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). G324Dfs*242 is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcription activity in culture (PMID: 25840971).
T101Rfs*11 frameshift loss of function RUNX1 T101Rfs*11 indicates a shift in the reading frame starting at amino acid 101 and terminating 11 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). T101Rfs*11 confers a loss of function to the Runx1 protein as indicated by loss of DNA binding and transcription activity in culture (PMID: 25840971).
G42R missense loss of function - predicted RUNX1 G42R does not lie within any known functional domains of the Runx1 protein (UniProt.org). G42R results in a loss of binding to Mll but demonstrates transcriptional activity similar to wild-type Runx1 in culture (PMID: 23817177).
Q245* nonsense loss of function - predicted RUNX1 Q245* results in a premature truncation of the Runx1 protein at amino acid 245 of 453 (UniProt.org). Q245* is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcription activity in culture (PMID: 25840971).
S67R missense loss of function RUNX1 S67R lies within the Runt domain of the Runx1 protein (UniProt.org). S67R results in a loss of Runx1 binding to Mll and decreased transcriptional activity in culture (PMID: 23817177).
H78E missense loss of function - predicted RUNX1 H78E lies within the Runt domain of the Runx1 protein (UniProt.org). H78E is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcription activity in culture (PMID: 25840971).
L44M missense unknown RUNX1 L44M does not lie within any known functional domains of the Runx1 protein (UniProt.org). L44M has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
G143Efs*7 frameshift loss of function - predicted RUNX1 G143Efs*7 indicates a shift in the reading frame starting at amino acid 143 and terminating 7 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, G143Efs*7 is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
K83E missense loss of function RUNX1 K83E lies within the Runt domain of the Runx1 protein (UniProt.org). K83E confers a loss of function to the Runx1 protein as indicated by loss of DNA binding ability and transactivation activity in culture (PMID: 11830488).
L290F missense unknown RUNX1 L290F does not lie within any known functional domains of the Runx1 protein (UniProt.org). L290F has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
N82S missense unknown RUNX1 N82S lies within the Runt domain of the Runx1 protein (UniProt.org). N82S has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
R180Q missense unknown RUNX1 R180Q does not lie within any known functional domains of the Runx1 protein (UniProt.org). R180Q has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
L198* nonsense loss of function - predicted RUNX1 L198* results in a premature truncation of the Runx1 protein at amino acid 198 of 453 (UniProt.org). L198* has not been characterized however, because other truncation mutations downstream of L198 are inactivating (Blood 2009 114 (22):3468), L198* is predicted to lead to a loss of Runx1 protein function.
R135G missense unknown RUNX1 R135G lies within the Runt domain of the Runx1 protein (UniProt.org). R135G has not been characterized, but is predicted to disrupt DNA binding ability of Runx1 protein by structural modeling (PMID: 11276260).
V91A missense unknown RUNX1 V91A lies within the Runt domain of the Runx1 protein (UniProt.org). V91A has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
P332Dfs*242 frameshift loss of function - predicted RUNX1 P332Dfs*242 indicates a shift in the reading frame starting at amino acid 332 and terminating 242 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). P332Dfs*242 is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcription activity in culture (PMID: 25840971).
P398L missense no effect RUNX1 P398L lies within the proline/serine/threonine rich region at the C-terminus of the Runx1 protein (UniProt.org). P398L demonstrates DNA binding and transcription activity similar to wild type Runx1 protein in culture (PMID: 25840971).
L29S missense loss of function - predicted RUNX1 L29S does not lie within any known functional domains of the Runx1 protein (UniProt.org). L29S results in a loss of binding to Mll but demonstrates transcriptional activity similar to wild-type Runx1 in culture (PMID: 23817177).
D66G missense unknown RUNX1 D66G lies within the Runt domain of the Runx1 protein (UniProt.org). D66G has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
Y162H missense unknown RUNX1 Y162H lies within the Runt domain of the Runx1 protein (UniProt.org). Y162H has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
D171N missense loss of function RUNX1 D171N lies within the Runt domain of the Runx1 protein (UniProt.org). D171N is a “hotspot” mutation (PMID: 23471304) that results in loss of DNA binding ability and transactivation activity of the Runx1 protein (PMID: 23471304), and promotes leukemic transformation in culture (PMID: 19850737).
T219M missense unknown RUNX1 T219M does not lie within any known functional domains of the Runx1 protein (UniProt.org). T219M has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
T149A missense no effect RUNX1 T149A lies within the Runt domain of the Runx1 protein (UniProt.org). T149A demonstrates DNA binding and transcription activity similar to wild type Runx1 protein in culture (PMID: 23817177).
A107V missense unknown RUNX1 A107V lies within the Runt domain of the Runx1 protein (UniProt.org). A107V has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
A160T missense loss of function RUNX1 A160T lies within the Runt domain of the Runx1 protein (UniProt.org). A160T results in decreased CBFbeta dimerization and C-FMS induction abilities as compared to wild-type Runx1 in culture (PMID: 25840971).
S287F missense unknown RUNX1 S287F does not lie within any known functional domains of the Runx1 protein (UniProt.org). S287F has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
V105Gfs*12 frameshift loss of function RUNX1 V105Gfs*12 indicates a shift in the reading frame starting at amino acid 105 and terminating 12 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). V105Gfs*12 confers a loss of function to the Runx1 protein as indicated by loss of DNA binding and transcription activity in culture (PMID: 25840971).
G172R missense unknown RUNX1 G172R lies within the Runt domain of the Runx1 protein (UniProt.org). G172R has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
M439L missense no effect RUNX1 M439L lies within the proline/serine/threonine rich region at the C-terminus of the Runx1 protein (UniProt.org). M439L demonstrates DNA binding and transcription activity similar to wild type Runx1 protein in culture (PMID: 25840971).
T273M missense unknown RUNX1 T273M does not lie within any known functional domains of the Runx1 protein (UniProt.org). T273M has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
L134P missense unknown RUNX1 L134P lies within the Runt domain of the Runx1 protein (UniProt.org). L134P has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
wild-type none no effect Wild-type RUNX1 indicates that no mutation has been detected within the RUNX1 gene.
I150T missense loss of function - predicted RUNX1 I150T lies within the Runt domain of the Runx1 protein (UniProt.org). I150T is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcriptional activity in culture (PMID: 23817177).
A129E missense unknown RUNX1 A129E lies within the Runt domain of the Runx1 protein (UniProt.org). A129E has been identified in the scientific literature (PMID: 19357396), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
F70L missense unknown RUNX1 F70L lies within the Runt domain of the Runx1 protein (UniProt.org). F70L has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
I87Afs*25 frameshift loss of function RUNX1 I87Afs*25 indicates a shift in the reading frame starting at amino acid 87 and terminating 25 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). I87Afs*25 confers a loss of function to the Runx1 protein as indicated by loss of DNA binding and transcription activity in culture (PMID: 25840971).
N112S missense unknown RUNX1 N112S lies within the Runt domain of the Runx1 protein (UniProt.org). N112S has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Oct 2017).
E196G missense no effect RUNX1 E196G lies within the proline/serine/threonine rich region at the C-terminus of the Runx1 protein (UniProt.org). E196G demonstrates DNA binding and transcriptional activity similar to wild type Runx1 protein in culture (PMID: 23817177).
D96Gfs*11 frameshift loss of function - predicted RUNX1 D96Gfs*11 indicates a shift in the reading frame starting at amino acid 96 and terminating 11 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, D96Gfs*11 is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
D96Mfs*10 frameshift loss of function - predicted RUNX1 D96Mfs*10 indicates a shift in the reading frame starting at amino acid 96 and terminating 10 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, D96Mfs*10 is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
P216L missense unknown RUNX1 P216L does not lie within any known functional domains of the Runx1 protein (UniProt.org). P216L has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
S114L missense loss of function - predicted RUNX1 S114L lies within the Runt domain of the Runx1 protein (UniProt.org). S114L results in a loss of CBFbeta dimerization, but demonstrates DNA binding and transcription activity similar to wild type Runx1 in culture (PMID: 25840971).
Q239* nonsense loss of function - predicted RUNX1 Q239* results in a premature truncation of the Runx1 protein at amino acid 239 of 453 (UniProt.org). Q239* has not been characterized however, because other truncation mutations downstream of Q239 are inactivating (Blood 2009 114 (22):3468), Q239* is predicted to lead to a loss of Runx1 protein function.
P368L missense unknown RUNX1 P368L lies within the KAT6A and KAT6B-interacting region of the Runx1 protein (UniProt.org). P368L has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
R307H missense unknown RUNX1 R307H lies within the KAT6B-interacting region of the Runx1 protein (UniProt.org). R307H has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
R135K missense loss of function - predicted RUNX1 R135K lies within the Runt domain of the Runx1 protein (UniProt.org). R135K is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcription activity in culture (PMID: 25840971).
L62Pfs*49 frameshift loss of function RUNX1 L62Pfs*49 indicates a shift in the reading frame starting at amino acid 62 and terminating 49 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). L62Pfs*49 confers a loss of function to the Runx1 protein as indicated by loss of DNA binding and transcription activity in culture (PMID: 25840971).
M283* nonsense loss of function - predicted RUNX1 M283* results in a premature truncation of the Runx1 protein at amino acid 283 of 453 (UniProt.org). M283* is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcription activity in culture (PMID: 25840971).
P216T missense unknown RUNX1 P216T does not lie within any known functional domains of the Runx1 protein (UniProt.org). P216T has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
M341V missense unknown RUNX1 M341V lies within the KAT6A and KAT6B-interacting region of the Runx1 protein (UniProt.org). M341V has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
R205L missense unknown RUNX1 R205L does not lie within any known functional domains of the Runx1 protein (UniProt.org). R205L has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
T219Hfs*15 frameshift loss of function - predicted RUNX1 T219Hfs*15 indicates a shift in the reading frame starting at amino acid 219 and terminating 15 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). T219Hfs*15 is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcription activity in culture (PMID: 25840971).
Q259Ifs*26 frameshift loss of function - predicted RUNX1 Q259Ifs*26 indicates a shift in the reading frame starting at amino acid 259 and terminating 26 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). Q259Ifs*26 has not been characterized however, because other truncation mutations downstream of Q259 are inactivating (Blood 2009 114 (22):3468), Q259Ifs*26 is predicted to lead to a loss of Runx1 protein function.
A288V missense unknown RUNX1 A288V does not lie within any known functional domains of the Runx1 protein (UniProt.org). A288V has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
C72fs frameshift loss of function - predicted RUNX1 C72fs results in a change in the amino acid sequence of the Runx1 protein beginning at 72 of 453, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, C72fs is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
A311T missense unknown RUNX1 A311T lies within the KAT6A and KTAB-interacting region of the Runx1 protein (UniProt.org). A311T has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
G393Hfs*172 frameshift unknown RUNX1 G393Hfs*172 indicates a shift in the reading frame starting at amino acid 393 and terminating 172 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). G393Hfs*172 has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Jan 2018).
P267S missense unknown RUNX1 P267S does not lie within any known functional domains of the Runx1 protein (UniProt.org). P267S has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
S249Tfs*322 frameshift loss of function - predicted RUNX1 S249Tfs*322 indicates a shift in the reading frame starting at amino acid 249 and terminating 322 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). S249Tfs*322 has not been characterized however, because other truncation mutations downstream of S249 are inactivating (Blood 2009 114 (22):3468), S249Tfs*322 is predicted to lead to a loss of Runx1 protein function.
W79C missense loss of function - predicted RUNX1 W79C lies within the Runx domain of the Runx1 protein (UniProt.org). W79C is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcriptional activity in culture (PMID: 23817177).
A288Rfs*284 frameshift loss of function - predicted RUNX1 A288Rfs*284 indicates a shift in the reading frame starting at amino acid 288 and terminating 284 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). A288Rfs*284 has not been characterized however, because other truncation mutations downstream of A288 are inactivating (Blood 2009 114 (22):3468), A288Rfs*284 is predicted to lead to a loss of Runx1 protein function.
K90* nonsense loss of function - predicted RUNX1 K90* results in a premature truncation of the Runx1 protein at amino acid 90 of 453 (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, K90* is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
D96Gfs*15 frameshift loss of function - predicted RUNX1 D96Gfs*15 indicates a shift in the reading frame starting at amino acid 96 and terminating 15 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, D96Gfs*15 is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
G95R missense unknown RUNX1 G95R lies within the Runt domain of the Runx1 protein (UniProt.org). G95R has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
G141R missense unknown RUNX1 G141R lies within the Runt domain of the Runx1 protein (UniProt.org). G141R has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Oct 2017).
P323S missense unknown RUNX1 P323S lies within the KAT6A-interacting region of the Runx1 protein (UniProt.org). P323S has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
V211A missense unknown RUNX1 V211A does not lie within any known functional domains of the Runx1 protein (UniProt.org). V211A has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
Q308Rfs*259 missense unknown RUNX1 Q308Rfs*259 indicates a shift in the reading frame starting at amino acid 308 and terminating 259 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). Q308Rfs*259 has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Jan 2018).
S295* nonsense loss of function - predicted RUNX1 S295* results in a premature truncation of the Runx1 protein at amino acid 295 of 453 (UniProt.org). S295* has not been characterized however, because other truncation mutations downstream of S295 are inactivating (Blood 2009 114 (22):3468), S295* is predicted to lead to a loss of Runx1 protein function.
G141V missense loss of function RUNX1 G141V lies within the Runt domain of the Runx1 protein (UniProt.org). G141V confers a loss of function to the Runx1 protein as indicated by loss of DNA binding and transcription activity in culture (PMID: 25840971).
F369Vfs*204 frameshift loss of function - predicted RUNX1 F369Vfs*204 indicates a shift in the reading frame starting at amino acid 369 and terminating 204 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). F369Vfs*204 is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcription activity in culture (PMID: 25840971).
T187Pfs*23 frameshift loss of function - predicted RUNX1 T187Pfs*23 indicates a shift in the reading frame starting at amino acid 187 and terminating 23 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). Due to the loss of the entire transactivation domain, T187Pfs*23 is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
S295Ffs*278 frameshift loss of function - predicted RUNX1 S295Ffs*278 indicates a shift in the reading frame starting at amino acid 295 and terminating 278 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). S295Ffs*278 has not been characterized however, because other truncation mutations downstream of S295 are inactivating (Blood 2009 114 (22):3468), S295Ffs*278 is predicted to lead to a loss of Runx1 protein function.
A33V missense loss of function - predicted RUNX1 A33V does not lie within any known functional domains of the Runx1 protein (UniProt.org). A33V results in a loss of binding to Mll but demonstrates transcriptional activity similar to wild-type Runx1 in culture (PMID: 23817177).
D57N missense unknown RUNX1 D57N lies within the Runt domain of the Runx1 protein (UniProt.org). D57N has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
V425G missense unknown RUNX1 V425G lies within the Pro/Ser/Thr-rich region of the Runx1 protein (UniProt.org). V425G has been identified in the scientific literature (PMID: 19808697), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Sep 2018).
R80H missense unknown RUNX1 R80H lies within the Runt domain of the Runx1 protein (UniProt.org). R80H has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Oct 2017).
A208T missense unknown RUNX1 A208T does not lie within any known functional domains of the Runx1 protein (UniProt.org). A208T has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
A122fs frameshift loss of function - predicted RUNX1 A122fs results in a change in the amino acid sequence of the Runx1 protein beginning at 122 of 453, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, A122fs is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
N69K missense unknown RUNX1 N69K lies within the Runt domain of the Runx1 protein (UniProt.org). N69K has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
P220Afs*14 frameshift loss of function - predicted RUNX1 P220Afs*14 indicates a shift in the reading frame starting at amino acid 220 and terminating 14 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). P220Afs*14 has not been characterized however, because other truncation mutations downstream of P220 are inactivating (Blood 2009 114 (22):3468), P220Afs*14 is predicted to lead to a loss of Runx1 protein function.
E61* nonsense loss of function RUNX1 E61* results in a premature truncation of the Runx1 protein at amino acid 61 of 453 (UniProt.org). E61* confers a loss of function to the Runx1 protein as indicated by loss of DNA binding and transcription activity in culture (PMID: 25840971).
RUNX1 - RUNX1T1 fusion gain of function RUNX1-RUNX1T1 (also referred to as RUNX1-ETO) results from the fusion of RUNX1 and RUNX1T1, and leads to altered transcriptional regulation and a mutator phenotype (PMID: 22201794, PMID: 26050648). RUNX1-RUNX1T1 fusions are associated with acute myeloid leukemia (PMID: 22201794).
V269Qfs*13 frameshift loss of function - predicted RUNX1 V269Qfs*13 indicates a shift in the reading frame starting at amino acid 269 and terminating 13 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). V269Qfs*13 has not been characterized however, because other truncation mutations downstream of V269 are inactivating (Blood 2009 114 (22):3468), V269Qfs*13 is predicted to lead to a loss of Runx1 protein function.
K90N missense unknown RUNX1 K90N lies within the Runt domain of the Runx1 protein (UniProt.org). K90N has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
W79R missense loss of function - predicted RUNX1 W79R lies within the Runt domain of the Runx1 protein (UniProt.org). W79R is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcription activity in culture (PMID: 25840971).
I315Hfs*258 frameshift loss of function - predicted RUNX1 I315Hfs*258 indicates a shift in the reading frame starting at amino acid 315 and terminating 258 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). I315Hfs*258 has not been characterized however, because other truncation mutations downstream of I315 are inactivating (Blood 2009 114 (22):3468), I315Hfs*258 is predicted to lead to a loss of Runx1 protein function.
G138D missense unknown RUNX1 G138D lies within the Runt domain of the Runx1 protein (UniProt.org). G138D has not been characterized, but is predicted to disrupt DNA binding ability of Runx1 protein by structural modeling (PMID: 11276260).
P173S missense unknown RUNX1 P173S lies within the Runt domain of the Runx1 protein (UniProt.org). P173S has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
W79* nonsense loss of function RUNX1 W79* results in a premature truncation of the Runx1 protein at amino acid 79 of 453 (UniProt.org). W79* confers a loss of function to the Runx1 protein as indicated by loss of DNA binding and transcription activity in culture (PMID: 25840971).
R135S missense unknown RUNX1 R135S lies within the Runt domain of the Runx1 protein (UniProt.org). R135S has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Oct 2017).
D171G missense loss of function RUNX1 D171G lies within the Runt domain of the Runx1 protein (UniProt.org). D171G confers a loss of function to the Runx1 protein as indicated by loss of DNA binding ability and transactivation activity in culture (PMID: 22318203).
D424Gfs*149 frameshift no effect - predicted RUNX1 D424Gfs*149 indicates a shift in the reading frame starting at amino acid 424 and terminating 149 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). D424Gfs*149 demonstrates DNA binding and transcription activity similar to wild type Runx1 protein in culture (PMID: 25840971) and therefore, is predicted to have no effect on Runx1 protein function.
Q158H missense loss of function RUNX1 Q158H lies within the Runt domain of the Runx1 protein (UniProt.org). Q158H results in a loss of beta-subunit interaction and decreased Runx1 transcriptional activity in culture (PMID: 23817177).
A122P missense unknown RUNX1 A122P lies within the Runt domain of the Runx1 protein (UniProt.org). A122P has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
P157L missense unknown RUNX1 P157L lies within the Runt domain of the Runx1 protein (UniProt.org). P157L has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
R177* nonsense loss of function - predicted RUNX1 R177* results in a premature truncation of the Runx1 protein at amino acid 177 of 453 within the Runt domain (UniProt.org). R177* is predicted to confer a loss of function to the Runx1 protein, as demonstrated by loss of DNA binding ability in culture (PMID: 10068652).
I150Hfs*36 frameshift loss of function RUNX1 I150Hfs*36 indicates a shift in the reading frame starting at amino acid 150 and terminating 36 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). I150Hfs*36 confers a loss of function to the Runx1 protein as indicated by loss of DNA binding and transcription activity in culture (PMID: 25840971).
Q235* nonsense loss of function - predicted RUNX1 Q235* results in a premature truncation of the Runx1 protein at amino acid 235 of 453 (UniProt.org). Q235* has not been characterized however, because other truncation mutations downstream of Q235 are inactivating (Blood 2009 114 (22):3468), Q235* is predicted to lead to a loss of Runx1 protein function.
R174Q missense loss of function RUNX1 R174Q lies within the Runt domain of the Runx1 protein (UniProt.org). R174Q confers a loss of function to the Runx1 protein as indicated by loss of DNA binding ability and transactivation activity in culture (PMID: 22318203).
RUNX1 - MECOM fusion gain of function RUNX1-MECOM (also referred to as RUNX1-EVI1) results from the fusion of RUNX1 and MECOM, and leads to altered transcriptional regulation, transformation of hematopoietic cells in culture, and development of leukemia in animal models (PMID: 19016745). RUNX1-MECOM fusions are associated with myelodysplastic syndrome and myelogenous leukemia (PMID: 19016745).
R223H missense no effect RUNX1 R223H lies within the proline/serine/threonine rich region at the C-terminus of the Runx1 protein (UniProt.org). R223H demonstrates DNA binding and transcriptional activity similar to wild type Runx1 protein in culture (PMID: 23817177).
R177Q missense loss of function RUNX1 R177Q lies within the Runt domain of the Runx1 protein (UniProt.org). R177Q confers a loss of function to the Runx1 protein as indicated by loss of DNA binding ability and transactivation activity in culture (PMID: 10068652).
R307Afs*266 frameshift loss of function - predicted RUNX1 R307Afs*266 indicates a shift in the reading frame starting at amino acid 307 and terminating 266 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). R307Afs*266 has not been characterized however, because other truncation mutations downstream of R307 are inactivating (Blood 2009 114 (22):3468), R307Afs*266 is predicted to lead to a loss of Runx1 protein function.
G108D missense loss of function RUNX1 G108D lies within the Runt domain of the Runx1 protein (UniProt.org). G108D results in a loss of DNA binding and inhibition of Runx1 protein transactivation activity of in cell culture (Blood 2009 114 (22):3468).
S433N missense unknown RUNX1 S433N does not lie within any known functional domains of the Runx1 protein (UniProt.org). S433N has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
T121Mfs*6 frameshift loss of function - predicted RUNX1 T121Mfs*6 indicates a shift in the reading frame starting at amino acid 121 and terminating 6 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). Due to the loss of the proline/serine/threonine rich region at the C-terminus (UniProt.org), T121Mfs*6 is predicted to lead to a loss of Runx1 protein function.
V105* nonsense loss of function - predicted RUNX1 V105* results in a premature truncation of the Runx1 protein at amino acid 105 of 453 (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, V105* is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
S67I missense loss of function RUNX1 S67I lies within the Runt domain of the Runx1 protein (UniProt.org). S67I results in a loss of Runx1 binding to Mll and decreased transcriptional activity in culture (PMID: 23817177).
P86S missense unknown RUNX1 P86S lies within the Runt domain of the Runx1 protein (UniProt.org). P86S has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
S291fs frameshift loss of function - predicted RUNX1 S291fs results in a change in the amino acid sequence of the Runx1 protein beginning at aa 291 of 453, likely resulting in premature truncation of the functional protein (UniProt.org). S291fs has not been biochemically characterized, but is predicted to confer a loss of function to the Runx1 protein as indicated by failure to induce myeloid differentiation in culture (PMID: 23979164).
D133G missense unknown RUNX1 D133G lies within the Runt domain of the Runx1 protein (UniProt.org). D133G has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
R139* nonsense loss of function RUNX1 R139* results in a premature truncation of the Runx1 protein at amino acid 139 of 453 (UniProt.org). R139* confers a loss of function to the Runx1 protein as indicated by loss of DNA binding and transcription activity in culture (PMID: 25840971).
R319H missense unknown RUNX1 R319H lies within the KAT6B-interacting region of the Runx1 protein (UniProt.org). R319H has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
P156A missense loss of function - predicted RUNX1 P156A lies within the Runt domain of the Runx1 protein (UniProt.org). P156A is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcriptional activity in culture (PMID: 23817177).
P86L missense unknown RUNX1 P86L lies within the Runt domain of the Runx1 protein (UniProt.org). P86L has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
R142Kfs*44 frameshift loss of function - predicted RUNX1 R142Kfs*44 indicates a shift in the reading frame starting at amino acid 142 and terminating 44 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). Due to the loss a portion of the runt homology domain and the loss of the entire transactivation domain, R142Kfs*44 is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
R174G missense unknown RUNX1 R174G lies within the Runt domain of the Runx1 protein (UniProt.org). R174G has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
R205W missense unknown RUNX1 R205W does not lie within any known functional domains of the Runx1 protein (UniProt.org). R205W has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
E289K missense unknown RUNX1 E289K does not lie within any known functional domains of the Runx1 protein (UniProt.org). E289K has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
Q158* nonsense loss of function - predicted RUNX1 Q158* results in a premature truncation of the Runx1 protein at amino acid 158 of 453. Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, Q158* is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
R139Q missense loss of function RUNX1 R139Q lies within the Runt domain of the Runx1 protein (UniProt.org). R139Q confers a loss of function to the Runx1 protein as indicated by loss of DNA binding and transcription activity in culture (PMID: 25840971).
S390F missense unknown RUNX1 S390F lies within the FOXP3 and KAT6B-interacting regions of the Runx1 protein (UniProt.org). S390F has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
R174* nonsense loss of function - predicted RUNX1 R174* results in a premature truncation of the Runx1 protein at amino acid 174 of 453 (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, R174* is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
R293* nonsense loss of function - predicted RUNX1 R293* results in a premature truncation of the Runx1 protein at amino acid 293 of 453 (UniProt.org). R293* is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcription activity in culture (PMID: 25840971).
Q186Rfs*24 frameshift loss of function - predicted RUNX1 Q186Rfs*24 indicates a shift in the reading frame starting at amino acid 186 and terminating 24 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). Q186Rfs*24 is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcription activity in culture (PMID: 25840971).
S191Afs*4 frameshift loss of function - predicted RUNX1 S191Afs*4 indicates a shift in the reading frame starting at amino acid 191 and terminating 4 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). Due to the loss of transactivation domain, S191Afs*4 is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
S114P missense no effect - predicted RUNX1 S114P lies within the Runt domain of the Runx1 protein (UniProt.org). S114P demonstrates transactivation activity similar to wild type Runx1 protein in culture (Blood 2009 114:3468) and therefore, is predicted to have no effect on Runx1 protein function.
R349Hfs*221 frameshift loss of function - predicted RUNX1 R349Hfs*221 indicates a shift in the reading frame starting at amino acid 349 and terminating 221 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). R349Hfs*221 has not been characterized however, because other truncation mutations downstream of R349 are inactivating (Blood 2009 114 (22):3468), R349Hfs*221 is predicted to lead to a loss of Runx1 protein function.
L261V missense unknown RUNX1 L261V does not lie within any known functional domains of the Runx1 protein (UniProt.org). L261V has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
S268Gfs*311 frameshift loss of function - predicted RUNX1 S268Gfs*311 indicates a shift in the reading frame starting at amino acid 268 and terminating 311 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). S268Gfs*311 is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcription activity in culture (PMID: 25840971).
S287Cfs*285 frameshift loss of function - predicted RUNX1 S287Cfs*285 indicates a shift in the reading frame starting at amino acid 287 and terminating 285 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). S287Cfs*285 has not been characterized however, because other truncation mutations downstream of S287 are inactivating (Blood 2009 114 (22):3468), S287Cfs*285 is predicted to lead to a loss of Runx1 protein function.
S291A missense unknown RUNX1 S291A lies within the KAT6A-interacting region of the Runx1 protein (UniProt.org). S291A has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
A217V missense unknown RUNX1 A217V does not lie within any known functional domains of the Runx1 protein (UniProt.org). A217V has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
S276L missense unknown RUNX1 S276L does not lie within any known functional domains of the Runx1 protein (UniProt.org). S276L has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
R178* nonsense loss of function - predicted RUNX1 R178* results in a premature truncation of the Runx1 protein at amino acid 178 of 453 (UniProt.org). Due to the loss of the transactivation domain, R178* is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
G172E missense loss of function - predicted RUNX1 G172E lies within the Runt domain of the Runx1 protein (UniProt.org). G172E is predicted to confer a loss of function to the Runx1 protein, as demonstrated by failure to rescue hematopoietic differentiation in culture (PMID: 24732596).
Y260* nonsense loss of function RUNX1 Y260* results in a premature truncation of the Runx1 protein at amino acid 260 of 453 (UniProt.org). Y260* confers a loss of function to the Runx1 protein as indicated by failure to localize in the nucleus and decreased transcriptional activity in culture (PMID: 23817177).
L71Sfs*24 frameshift loss of function RUNX1 L71Sfs*24 indicates a shift in the reading frame starting at amino acid 71 and terminating 24 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). L71Sfs*24 confers a loss of function to the Runx1 protein as indicated by loss of DNA binding and transcription activity in culture (PMID: 25840971).
L261Tfs*24 frameshift loss of function - predicted RUNX1 L261Tfs*24 indicates a shift in the reading frame starting at amino acid 261 and terminating 24 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). L261Tfs*24 has not been characterized however, because other truncation mutations downstream of L261 are inactivating (Blood 2009 114 (22):3468), L261Tfs*24 is predicted to lead to a loss of Runx1 protein function.
R80C missense loss of function RUNX1 R80C lies within the Runt domain of the Runx1 protein (UniProt.org). R80C confers a loss of function to the Runx1 protein as indicated by loss of DNA binding ability and transactivation in culture (PMID: 24098673).
L134Pfs*52 frameshift loss of function - predicted RUNX1 L134Pfs*52 indicates a shift in the reading frame starting at amino acid 134 and terminating 52 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, L134Pfs*52 is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
I166M missense unknown RUNX1 I166M lies within the Runt domain of the Runx1 protein (UniProt.org). I166M has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
R49H missense loss of function - predicted RUNX1 R49H does not lie within any known functional domains of the Runx1 protein (UniProt.org). R49H results in a loss of binding to Mll but demonstrates transcriptional activity similar to wild-type Runx1 in culture (PMID: 23817177).
W252* nonsense loss of function - predicted RUNX1 W252* results in a premature truncation of the Runx1 protein at amino acid 252 of 453 (UniProt.org). W252* has not been characterized however, because other truncation mutations downstream of W252 are inactivating (Blood 2009 114 (22):3468), W252* is predicted to lead to a loss of Runx1 protein function.
G138* nonsense loss of function - predicted RUNX1 G138* results in a premature truncation of the Runx1 protein at amino acid 138 of 453 (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, G138* is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
S114* nonsense loss of function - predicted RUNX1 S114* results in a premature truncation of the Runx1 protein at amino acid 114 of 453 within the Runt domain (UniProt.org). S114* is predicted to confer a loss of function to the Runx1 protein, as demonstrated by loss of DNA binding ability in culture (PMID: 10068652).
A115Gfs*2 frameshift loss of function - predicted RUNX1 A115Gfs*2 indicates a shift in the reading frame starting at amino acid 115 and terminating 2 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, A115Gfs*2 is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
H58N missense loss of function - predicted RUNX1 H58N lies within the Runt domain of the Runx1 protein (UniProt.org). H58N results in a loss of binding to Mll but demonstrates transcriptional activity similar to wild-type Runx1 in culture (PMID: 23817177).
E116_A120del deletion unknown RUNX1 E116_A120del results in the deletion of five amino acids in the Runt domain of the Runx1 protein from amino acids 116 to 120 (UniProt.org). E116_A120del has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Jan 2018).
Q237* nonsense loss of function - predicted RUNX1 Q237* results in a premature truncation of the Runx1 protein at amino acid 237 of 453 (UniProt.org). Q237* has not been characterized however, because other truncation mutations downstream of Q237 are inactivating (Blood 2009 114 (22):3468), Q237* is predicted to lead to a loss of Runx1 protein function.
S73F missense loss of function - predicted RUNX1 S73F lies within the Runt domain of the Runx1 protein (UniProt.org). S73F is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcription activity in culture (PMID: 25840971).
G143fs frameshift loss of function - predicted RUNX1 G143fs results in a change in the amino acid sequence of the Runx1 protein beginning at 143 of 453, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, G143fs is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
Q181* nonsense loss of function - predicted RUNX1 Q181* results in a premature truncation of the Runx1 protein at amino acid 181 of 453 (UniProt.org). Due to the loss of the transactivation domain, Q181* is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
S195Pfs*15 frameshift loss of function RUNX1 S195Pfs*15 indicates a shift in the reading frame starting at amino acid 195 and terminating 15 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). S195Pfs*15 confers a loss of function to the Runx1 protein as indicated by loss of DNA binding and transcription activity in culture (PMID: 25840971).
M341Hfs*229 frameshift loss of function - predicted RUNX1 M341Hfs*229 indicates a shift in the reading frame starting at amino acid 341 and terminating 229 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). M341Hfs*229 is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcription activity in culture (PMID: 25840971).
A36V missense unknown RUNX1 A36V does not lie within any known functional domains of the Runx1 protein (UniProt.org). A36V has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
E27Q missense unknown RUNX1 E27Q does not lie within any known functional domains of the Runx1 protein (UniProt.org). E27Q has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
I166T missense loss of function - predicted RUNX1 I166T lies within the Runt domain of the Runx1 protein (UniProt.org). I166T is predicted to confer a loss of function to the Runx1 protein, as demonstrated by decreased Runx1 transcriptional activity in culture (PMID: 23817177).
G338S missense unknown RUNX1 G338S lies within the KAT6A-interacting region of the Runx1 protein (UniProt.org). G338S has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
V92Ffs*6 frameshift loss of function RUNX1 V92Ffs*6 indicates a shift in the reading frame starting at amino acid 92 and terminating 6 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). V92Ffs*6 confers a loss of function to the Runx1 protein as indicated by loss of DNA binding and transcription activity in culture (PMID: 25840971).
T121* nonsense loss of function - predicted RUNX1 R121* results in a premature truncation of the Runx1 protein at amino acid 121 of 453 (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, R121* is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
R400H missense unknown RUNX1 R400H lies within the KAT6B and FOXP3-interacting regions of the Runx1 protein (UniProt.org). R400H has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
S383* nonsense loss of function - predicted RUNX1 S383* results in a premature truncation of the Runx1 protein at amino acid 383 of 453 (UniProt.org). S383* is predicted to confer a loss of function to the Runx1 protein, as demonstrated by a loss of Runx1 transcription activity in culture (PMID: 25840971).
R139G missense loss of function RUNX1 R139G lies within the Runt domain of the Runx1 protein (UniProt.org). R139G confers a loss of function to the Runx1 protein as indicated by loss of DNA binding ability and transactivation activity in culture (PMID: 10068652).
R135fs frameshift loss of function - predicted RUNX1 R135fs results in a change in the amino acid sequence of the Runx1 protein beginning at 135 of 453, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, R135fs is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
N109K missense loss of function RUNX1 N109K lies within the Runt domain of the Runx1 protein (UniProt.org). N109K confers a loss of function to the Runx1 protein as indicated by loss of DNA binding and transcription activity in culture (PMID: 25840971).
L117P missense loss of function RUNX1 L117P lies within the Runt domain of the Runx1 protein (UniProt.org). L117P confers a loss of function to the Runx1 protein as indicated by decreased DNA binding and loss of transcriptional activity in culture (PMID: 23817177).
T18Nfs*93 frameshift loss of function RUNX1 T18Nfs*93 indicates a shift in the reading frame starting at amino acid 18 and terminating 93 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). T18Nfs*93 confers a loss of function to the Runx1 protein as indicated by loss of DNA binding and transcription activity in culture (PMID: 25840971).
S140_G141del deletion unknown RUNX1 S140_G141del results in the deletion of two amino acids in the Runt domain of the Runx1 protein from amino acids 140 to 141 (UniProt.org). S140_G141del has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Jan 2018).
P22L missense unknown RUNX1 P22L does not lie within any known functional domains of the Runx1 protein (UniProt.org). P22L has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
D317N missense unknown RUNX1 D317N lies within the KAT6A and KAT6B-interacting regions of the Runx1 protein (UniProt.org). D317N has been identified in the scientific literature (PMID: 19808697), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
A107P missense loss of function - predicted RUNX1 A107P lies within the Runt domain of the Runx1 protein (UniProt.org). A107P is predicted to confer a loss of function to the Runx1 protein, as demonstrated by loss of transcriptional activity in culture (PMID: 23817177).
Q308R missense unknown RUNX1 Q308R lies within the KAT6B-interacting region of the Runx1 protein (UniProt.org). Q308R has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
P98Qfs*8 frameshift loss of function - predicted RUNX1 P98Qfs*8 indicates a shift in the reading frame starting at amino acid 98 and terminating 8 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, P98Qfs*8 is predicted to lead to a loss of Runx1 protein function (PMID: 25840971).
S268F missense unknown RUNX1 S268F does not lie within any known functional domains of the Runx1 protein (UniProt.org). S268F has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
M240I missense unknown RUNX1 M240I does not lie within any known functional domains of the Runx1 protein (UniProt.org). M240I has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
S257Dfs*22 frameshift loss of function - predicted RUNX1 S257Dfs*22 indicates a shift in the reading frame starting at amino acid 257 and terminating 22 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org).S257Dfs*22 has not been characterized however, because other truncation mutations downstream of S257 are inactivating (Blood 2009 114 (22):3468), S257Dfs*22 is predicted to lead to a loss of Runx1 protein function.
S329Lfs*244 frameshift no effect RUNX1 S329Lfs*244 indicates a shift in the reading frame starting at amino acid 329 and terminating 244 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). S329Lfs*244 demonstrates DNA binding and transcription activity similar to wild type Runx1 protein in culture (PMID: 25840971).
C72W missense loss of function - predicted RUNX1 C72W lies within the Runt domain of the Runx1 protein (UniProt.org). C72W results in a loss of CBFbeta dimerization but demonstrates DNA binding and transcription activity similar to wild type Runx1 protein in culture (PMID: 25840971).
Y113* nonsense loss of function - predicted RUNX1 Y113* results in a premature truncation of the Runx1 protein at amino acid 113 of 453 (UniProt.org). Due to the loss of a portion of the runt homology domain and the loss of the entire transactivation domain, Y113* is predicted to lead to a loss of Runx1 function (PMID: 25840971).
K83Q missense no effect RUNX1 K83Q lies within the Runt domain of the Runx1 protein (Unitprot.org). K83Q is a “hotspot” mutation for blast crisis CML (PMID: 24098673) and demonstrates DNA binding and transcriptional activity comparable to wild type Runx1 protein (PMID: 24098673).
mutant unknown unknown RUNX1 mutant indicates an unspecified mutation in the RUNX1 gene.
F232Sfs*338 frameshift loss of function - predicted RUNX1 F232Sfs*338 indicates a shift in the reading frame starting at amino acid 232 and terminating 338 residues downstream causing a premature truncation of the 453 amino acid Runx1 protein (UniProt.org). F232Sfs*338 has not been characterized however, because other truncation mutations downstream of F232 are inactivating (Blood 2009 114 (22):3468), F232Sfs*338 is predicted to lead to a loss of Runx1 protein function.
P76T missense unknown RUNX1 P76T lies within the Runt domain of the Runx1 protein (UniProt.org). P76T has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Apr 2018).
Molecular Profile Protein Effect Treatment Approaches
RUNX1 F89L unknown
RUNX1 R49S loss of function - predicted
RUNX1 E111_S114dup loss of function - predicted
RUNX1 K83N loss of function - predicted
RUNX1 G100D unknown
RUNX1 G324Dfs*242 loss of function - predicted
RUNX1 T101Rfs*11 loss of function
RUNX1 G42R loss of function - predicted
RUNX1 Q245* loss of function - predicted
RUNX1 S67R loss of function
RUNX1 H78E loss of function - predicted
RUNX1 L44M unknown
RUNX1 G143Efs*7 loss of function - predicted
RUNX1 K83E loss of function
RUNX1 L290F unknown
RUNX1 N82S unknown
RUNX1 R180Q unknown
RUNX1 L198* loss of function - predicted
RUNX1 R135G unknown
RUNX1 V91A unknown
RUNX1 P332Dfs*242 loss of function - predicted
RUNX1 P398L no effect
RUNX1 L29S loss of function - predicted
RUNX1 D66G unknown
RUNX1 Y162H unknown
RUNX1 D171N loss of function
RUNX1 T219M unknown
RUNX1 T149A no effect
RUNX1 A107V unknown
RUNX1 A160T loss of function
RUNX1 S287F unknown
RUNX1 V105Gfs*12 loss of function
RUNX1 G172R unknown
RUNX1 M439L no effect
RUNX1 T273M unknown
RUNX1 L134P unknown
RUNX1 wild-type no effect
RUNX1 I150T loss of function - predicted
RUNX1 A129E unknown
RUNX1 F70L unknown
RUNX1 I87Afs*25 loss of function
RUNX1 N112S unknown
RUNX1 E196G no effect
RUNX1 D96Gfs*11 loss of function - predicted
RUNX1 D96Mfs*10 loss of function - predicted
RUNX1 P216L unknown
RUNX1 S114L loss of function - predicted
RUNX1 Q239* loss of function - predicted
RUNX1 P368L unknown
RUNX1 R307H unknown
RUNX1 R135K loss of function - predicted
RUNX1 L62Pfs*49 loss of function
RUNX1 M283* loss of function - predicted
RUNX1 P216T unknown
RUNX1 M341V unknown
RUNX1 R205L unknown
RUNX1 T219Hfs*15 loss of function - predicted
RUNX1 Q259Ifs*26 loss of function - predicted
RUNX1 A288V unknown
RUNX1 C72fs loss of function - predicted
RUNX1 A311T unknown
RUNX1 G393Hfs*172 unknown
RUNX1 P267S unknown
RUNX1 S249Tfs*322 loss of function - predicted
RUNX1 W79C loss of function - predicted
RUNX1 A288Rfs*284 loss of function - predicted
RUNX1 K90* loss of function - predicted
RUNX1 D96Gfs*15 loss of function - predicted
RUNX1 G95R unknown
RUNX1 G141R unknown
RUNX1 P323S unknown
RUNX1 V211A unknown
RUNX1 Q308Rfs*259 unknown
RUNX1 S295* loss of function - predicted
RUNX1 G141V loss of function
RUNX1 F369Vfs*204 loss of function - predicted
RUNX1 T187Pfs*23 loss of function - predicted
RUNX1 S295Ffs*278 loss of function - predicted
RUNX1 A33V loss of function - predicted
RUNX1 D57N unknown
RUNX1 V425G unknown
RUNX1 R80H unknown
RUNX1 A208T unknown
RUNX1 A122fs loss of function - predicted
RUNX1 N69K unknown
RUNX1 P220Afs*14 loss of function - predicted
RUNX1 E61* loss of function
RUNX1-RUNX1T1 KIT mut
RUNX1-RUNX1T1 gain of function
RUNX1 V269Qfs*13 loss of function - predicted
RUNX1 K90N unknown
RUNX1 W79R loss of function - predicted
RUNX1 I315Hfs*258 loss of function - predicted
RUNX1 G138D unknown
RUNX1 P173S unknown
RUNX1 W79* loss of function
RUNX1 R135S unknown
RUNX1 D171G loss of function
RUNX1 D424Gfs*149 no effect - predicted
RUNX1 Q158H loss of function
RUNX1 A122P unknown
RUNX1 P157L unknown
RUNX1 R177* loss of function - predicted
RUNX1 I150Hfs*36 loss of function
RUNX1 Q235* loss of function - predicted
RUNX1 R174Q loss of function
RUNX1 - MECOM gain of function
RUNX1 R223H no effect
RUNX1 R177Q loss of function
RUNX1 R307Afs*266 loss of function - predicted
RUNX1 G108D loss of function
RUNX1 S433N unknown
RUNX1 T121Mfs*6 loss of function - predicted
RUNX1 V105* loss of function - predicted
RUNX1 S67I loss of function
RUNX1 P86S unknown
RUNX1 S291fs loss of function - predicted
RUNX1 D133G unknown
RUNX1 R139* loss of function
RUNX1 R319H unknown
RUNX1 P156A loss of function - predicted
RUNX1 P86L unknown
RUNX1 R142Kfs*44 loss of function - predicted
RUNX1 R174G unknown
RUNX1 R205W unknown
RUNX1 E289K unknown
RUNX1 Q158* loss of function - predicted
RUNX1 R139Q loss of function
RUNX1 S390F unknown
RUNX1 R174* loss of function - predicted
RUNX1 R293* loss of function - predicted
RUNX1 Q186Rfs*24 loss of function - predicted
RUNX1 S191Afs*4 loss of function - predicted
RUNX1 S114P no effect - predicted
RUNX1 R349Hfs*221 loss of function - predicted
RUNX1 L261V unknown
RUNX1 S268Gfs*311 loss of function - predicted
RUNX1 S287Cfs*285 loss of function - predicted
RUNX1 S291A unknown
RUNX1 A217V unknown
RUNX1 S276L unknown
RUNX1 R178* loss of function - predicted
RUNX1 G172E loss of function - predicted
RUNX1 Y260* loss of function
RUNX1 L71Sfs*24 loss of function
RUNX1 L261Tfs*24 loss of function - predicted
RUNX1 R80C loss of function
RUNX1 L134Pfs*52 loss of function - predicted
RUNX1 I166M unknown
RUNX1 R49H loss of function - predicted
RUNX1 W252* loss of function - predicted
RUNX1 G138* loss of function - predicted
RUNX1 S114* loss of function - predicted
RUNX1 A115Gfs*2 loss of function - predicted
RUNX1 H58N loss of function - predicted
RUNX1 E116_A120del unknown
RUNX1 Q237* loss of function - predicted
RUNX1 S73F loss of function - predicted
RUNX1 G143fs loss of function - predicted
RUNX1 Q181* loss of function - predicted
RUNX1 S195Pfs*15 loss of function
RUNX1 M341Hfs*229 loss of function - predicted
RUNX1 A36V unknown
RUNX1 E27Q unknown
RUNX1 I166T loss of function - predicted
RUNX1 G338S unknown
RUNX1 V92Ffs*6 loss of function
RUNX1 T121* loss of function - predicted
RUNX1 R400H unknown
RUNX1 S383* loss of function - predicted
RUNX1 R139G loss of function
RUNX1 R135fs loss of function - predicted
RUNX1 N109K loss of function
RUNX1 L117P loss of function
RUNX1 T18Nfs*93 loss of function
RUNX1 S140_G141del unknown
RUNX1 P22L unknown
RUNX1 D317N unknown
RUNX1 A107P loss of function - predicted
RUNX1 Q308R unknown
RUNX1 P98Qfs*8 loss of function - predicted
RUNX1 S268F unknown
RUNX1 M240I unknown
RUNX1 S257Dfs*22 loss of function - predicted
RUNX1 S329Lfs*244 no effect
RUNX1 C72W loss of function - predicted
RUNX1 Y113* loss of function - predicted
RUNX1 K83Q no effect
RUNX1 mutant unknown
RUNX1 F232Sfs*338 loss of function - predicted
RUNX1 P76T unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RUNX1-RUNX1T1 KIT mut acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, coincident KIT mutations were associated with higher relapse rate and decreased overall survival in acute myeloid leukemia patients with RUNX1-RUNX1T1 fusions (PMID: 18648004, PMID: 16384925, PMID: 25111512). 25111512 16384925 18648004
RUNX1-RUNX1T1 acute myeloid leukemia sensitive GSK690 Preclinical - Cell culture Actionable In a preclinical study, GSK690 inhibited growth of acute myeloid leukemia cell lines harboring RUNX1-RUNX1T1 in culture (PMID: 26837761). 26837761
RUNX1-RUNX1T1 acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, the t(8;21) cytogenetic abnormality, which leads to the RUNX1-RUNX1T1 fusion, is associated with core-binding factor acute myeloid leukemia and favorable prognosis (PMID: 22180162, PMID: 9746770, PMID: 25111512). 9746770 25111512 22180162
RUNX1-RUNX1T1 leukemia sensitive I-CBP112 Preclinical Actionable In a preclinical study, I-CBP112 inhibited clonogenic growth in a leukemia cell line harboring a RUNX1-RUNX1T1 (AML1-ETO) fusion in culture (PMID: 26552700). 26552700
RUNX1-RUNX1T1 acute myeloid leukemia sensitive RN-1 Preclinical - Cell line xenograft Actionable In a preclinical study, RN-1 inhibited growth of acute myeloid leukemia cell lines harboring RUNX1-RUNX1T1 in culture, and inhibited tumor growth in xenograft models (PMID: 26837761). 26837761
RUNX1-RUNX1T1 leukemia sensitive I-CBP112 + JQ1 Preclinical Actionable In a preclinical study, the combination of I-CBP112 and JQ1 worked synergistically to inhibit growth of leukemia cells harboring a RUNX1-RUNX1T1 (AML1-ETO) fusion in culture (PMID: 26552700) 26552700
RUNX1-RUNX1T1 leukemia sensitive I-CBP112 + Doxorubicin Preclinical Actionable In a preclinical study, the combination of I-CBP112 and Doxorubicin worked synergistically to inhibit growth of leukemia cells harboring a RUNX1-RUNX1T1 (AML1-ETO) fusion in culture (PMID: 26552700) 26552700
RUNX1 mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, RUNX1 mutations were associated with adverse clinical outcome in acute myeloid leukemia patients (PMID: 21343560, PMID: 22689681, PMID: 22753902, PMID: 25652455). 21343560 25652455 22689681 22753902
RUNX1 mutant myelodysplastic syndrome not applicable N/A Clinical Study Prognostic In clinical analyses, RUNX1 mutations were associated with poor overall survival in patients with myelodysplastic syndrome (PMID: 21714648, PMID: 22869879). 22869879 21714648
RUNX1 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic RUNX1 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...