Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

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).

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Variant Impact Protein Effect Variant Description Associated with drug Resistance
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).
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, Feb 2020).
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).
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).
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, Feb 2020).
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, PMID: 26316320), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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).
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, Feb 2020).
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, Feb 2020).
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 functional protein and extension of the 453aa Runx1 protein length by 119 amino acids (UniProt.org). A288Rfs*284 has not been characterized, however, due to the effects of frameshifts downstream of A288 (PMID: 25840971), A288Rfs*284 is predicted to result in 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, Feb 2020).
A311T missense unknown RUNX1 A311T lies within the KAT6A and KAT6B-interacting regions 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, Feb 2020).
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).
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, Feb 2020).
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).
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).
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, Feb 2020).
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).
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).
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, Feb 2020).
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 functional protein and extension of the 453aa Runx1 protein length by 120 amino acids (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.
D57N missense unknown RUNX1 D57N lies within the Runt domain of the Runx1 protein (UniProt.org). D57N has been identified in sequencing studies (PMID: 31761620), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
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).
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).
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).
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).
E116_A120del deletion unknown RUNX1 E116_A120del results in the deletion of five amino acids within 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, Feb 2020).
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).
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, Feb 2020).
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, Feb 2020).
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).
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 functional protein and extension of the 453aa Runx1 protein length by 117 amino acids (UniProt.org). F232Sfs*338 has not been characterized, however, due to the effects of frameshifts downstream of F232 (PMID: 25840971), F232Sfs*338 is predicted to lead to a loss of Runx1 protein function.
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 functional protein and extension of the 453aa Runx1 protein length by 120 amino acids (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).
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, Feb 2020).
F89L missense unknown RUNX1 F89L lies within the Runt domain of the Runx1 protein (UniProt.org). F89L has been identified in sequencing studies (PMID: 31488558, PMID: 28927163), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
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).
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).
G138D missense loss of function - predicted RUNX1 G138D lies within the Runt domain of the Runx1 protein (UniProt.org). G138D results in decreased DNA binding in in vitro assays (PMID: 17290219), and therefore, is predicted to result in a loss of Runx1 protein function.
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, Feb 2020).
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).
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).
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).
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).
G172R missense unknown RUNX1 G172R lies within the Runt domain of the Runx1 protein (UniProt.org). G172R has been identified in sequencing studies (PMID: 17910630), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Mar 2020).
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 functional protein and extension of the 453aa Runx1 protein by 113 amino acids (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).
G338S missense unknown RUNX1 G338S lies within the KAT6A and KAT6B-interacting regions 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, Feb 2020).
G393Hfs*172 frameshift unknown RUNX1 G393Hfs*172 indicates a shift in the reading frame starting at amino acid 393 and terminating 172 residues downstream, resulting in premature truncation of the functional protein and extension of the 453aa Runx1 protein length by 112 amino acids (UniProt.org). G393Hfs*172 has not been characterized in the scientific literature and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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).
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, Feb 2020).
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).
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).
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).
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).
I166M missense unknown RUNX1 I166M lies within the Runt domain of the Runx1 protein (UniProt.org). I166M has been identified in sequencing studies (PMID: 28927163), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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).
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 functional protein and extension of 453aa Runx1 protein by 120 amino acids (UniProt.org). I315Hfs*258 has not been characterized, however, due to the effects of frameshifts downstream of I315 (PMID: 25840971), I315Hfs*258 is predicted to result in a loss of Runx1 protein function.
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).
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).
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).
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).
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).
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, Feb 2020).
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).
L134P missense unknown RUNX1 L134P lies within the Runt domain of the Runx1 protein (UniProt.org). L134P has been identified in sequencing studies (PMID: 26212328), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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).
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, due to the effects of other truncation mutations downstream of L198 (PMID: 25840971), L198* is predicted to lead to a loss of Runx1 protein function.
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, due to the effects of other truncation mutations downstream of L261 (PMID: 25840971), L261Tfs*24 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, Feb 2020).
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, Feb 2020).
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).
L44M missense unknown RUNX1 L44M does not lie within any known functional domains of the Runx1 protein (UniProt.org). L44M has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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).
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).
M240I missense unknown RUNX1 M240I does not lie within any known functional domains of the Runx1 protein (UniProt.org). M240I has been identified in sequencing studies (PMID: 26580448, PMID: 24523240), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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).
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 functional protein and extension of the 453aa Runx1 protein by 117 amino acids (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).
M341V missense unknown RUNX1 M341V lies within the KAT6A and KAT6B-interacting regions 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, Feb 2020).
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).
mutant unknown unknown RUNX1 mutant indicates an unspecified mutation in the RUNX1 gene.
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).
N112S missense unknown RUNX1 N112S lies within the Runt domain of the Runx1 protein (UniProt.org). N112S has not been characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
N82S missense unknown RUNX1 N82S lies within the Runt domain of the Runx1 protein (UniProt.org). N82S has been identified in sequencing studies (PMID: 23958918), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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).
P157L missense unknown RUNX1 P157L lies within the Runt domain of the Runx1 protein (UniProt.org). P157L has been identified in sequencing studies (PMID: 26401016), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
P173S missense unknown RUNX1 P173S lies within the Runt domain and a DNA-interacting region of the Runx1 protein (UniProt.org). P173S has been identified in sequencing studies (PMID: 19850737), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
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, Feb 2020).
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, due to the effects of other truncation mutations downstream of P220 (PMID: 25840971), P220Afs*14 is predicted to lead to a loss of Runx1 protein function.
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, Feb 2020).
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, Feb 2020).
P323S missense unknown RUNX1 P323S lies within the KAT6A and KAT6B-interacting regions of the Runx1 protein (UniProt.org). P323S 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, Feb 2020).
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 functional protein and extension of the 453aa Runx1 protein by 121 amino acids (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).
P368L missense unknown RUNX1 P368L lies within the KAT6A, KAT6B, and FOXP3-interacting regions of the Runx1 protein (UniProt.org). P368L been identified in sequencing studies (PMID: 25066867), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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).
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, Feb 2020).
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, Feb 2020).
P86S missense unknown RUNX1 P86S lies within the Runt domain of the Runx1 protein (UniProt.org). P86S has been identified in sequencing studies (PMID: 26648538, PMID: 26222071), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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).
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).
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).
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).
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).
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, due to the effects of other truncation mutations downstream of Q235 (PMID: 25840971), Q235* is predicted to lead to a loss of Runx1 protein function.
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, due to the effects of other truncation mutations downstream of Q237 (PMID: 25840971), Q237* is predicted to lead to a loss of Runx1 protein function.
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, due to the effects of other truncation mutations downstream of Q239 (PMID: 25840971), Q239* is predicted to lead to a loss of Runx1 protein function.
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).
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, due to the effects of other truncation mutations downstream of Q259 (PMID: 25840971), Q259Ifs*26 is predicted to lead to a loss of Runx1 protein function.
Q308R missense unknown RUNX1 Q308R lies within the KAT6A and KAT6B-interacting regions 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, Feb 2020).
Q308Rfs*259 frameshift loss of function - predicted 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 functional protein and extension of the 453aa Runx1 protein length by 114 amino acids (UniProt.org). Q308Rfs*259 has not been characterized, however, due to the effects of frameshifts downstream of Q308 (PMID: 25840971), is predicted to result in a loss of Runx1 protein function.
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).
R135G missense loss of function - predicted RUNX1 135G lies within the Runt domain of the Runx1 protein (UniProt.org). R135G results in decreased binding to DNA and CBFB in in vitro assays (PMID: 17290219), and therefore, is predicted to result in a loss of Runx1 protein function.
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).
R135S missense unknown RUNX1 R135S lies within the Runt domain and a DNA-interacting region of the Runx1 protein (UniProt.org). R135S has been identified in sequencing studies (PMID: 29057546, PMID: 28927163, PMID: 28855357), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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).
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).
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).
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).
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).
R174G missense unknown RUNX1 R174G lies within the Runt domain and a DNA-interacting region of the Runx1 protein (UniProt.org). R174G has been identified in the scientific literature (PMID: 11276260), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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).
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).
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).
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).
R180Q missense unknown RUNX1 R180Q does not lie within any known functional domains of the Runx1 protein (UniProt.org). R180Q has been identified in sequencing studies (PMID: 30072744), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
R205W missense unknown RUNX1 R205W does not lie within any known functional domains of the Runx1 protein (UniProt.org). R205W has been identified in sequencing studies (PMID: 28090092), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Mar 2020).
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).
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).
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 functional protein and extension of the 453aa Runx1 protein by 120 amino acids (UniProt.org). R307Afs*266 has not been characterized, however, due to the effects of frameshifts downstream of R307 (PMID: 25840971), R307Afs*266 is predicted to result in a loss of Runx1 protein function.
R307H missense unknown RUNX1 R307H lies within the KAT6A and KAT6B-interacting regions 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, Feb 2020).
R319H missense unknown RUNX1 R319H lies within the KAT6A and KAT6B-interacting regions 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, Feb 2020).
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 functional protein and extension of the 453aa Runx1 protein by 117 amino acids (UniProt.org). R349Hfs*221 has not been characterized, however, due to the effects of frameshifts downstream of R349 (PMID: 25840971), R349Hfs*221 is predicted to lead to a loss of Runx1 protein function.
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, Feb 2020).
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).
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).
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).
R80H missense unknown RUNX1 R80H lies within the Runt domain and a DNA-interacting region of the Runx1 protein (UniProt.org). R80H has been identified in sequencing studies (PMID: 24659740, PMID: 19773259), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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).
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).
RUNX1 - USP42 fusion unknown RUNX1-USP42 results from the fusion of RUNX1 and USP42 (PMID: 24673627). RUNX1-USP42 has been identified in acute myeloid leukemia (PMID: 24673627), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Feb 2020).
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).
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).
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.
S140_G141del deletion unknown RUNX1 S140_G141del results in the deletion of two amino acids within 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, Feb 2020).
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).
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).
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 functional protein and extension of the 453aa Runx1 protein by 118 amino acids (UniProt.org). S249Tfs*322 has not been characterized, however, due to the effects of frameshifts downstream of S249 (PMID: 25840971), S249Tfs*322 is predicted to result in a loss of Runx1 protein function.
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, due to the effects of other truncation mutations downstream of S257 (PMID: 25840971), S257Dfs*22 is predicted to lead to a loss of Runx1 protein function.
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, Feb 2020).
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 functional protein and an extension of the 453aa Runx1 protein by 126 amino acids (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).
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, Feb 2020).
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, due to the effects of frameshifts downstream of S287 (PMID: 25840971), S287Cfs*285 is predicted to result in a loss of Runx1 protein function.
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, Feb 2020).
S291A missense unknown RUNX1 S291A lies within the KAT6A-interacting region of the Runx1 protein (UniProt.org). S291A has not been characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Mar 2020).
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).
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, due to the effects of other truncation mutations downstream of S295 (PMID: 25840971), S295* is predicted to lead to a loss of Runx1 protein function.
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 functional protein and extension of the 453aa Runx1 protein by 120 amino acids (UniProt.org). S295Ffs*278 has not been characterized, however, due to the effects of frameshifts downstream of S295 (PMID: 25840971), S295Ffs*278 is predicted to lead to a loss of Runx1 protein function.
S329Lfs*244 frameshift loss of function - predicted 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 functional protein and extension of the 453aa Runx1 protein by 120 amino acids (UniProt.org). S329Lfs*244 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).
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).
S390F missense unknown RUNX1 S390F lies within the FOXP3 and KAT6B-interacting regions of the Runx1 protein (UniProt.org). S390F has been identified in sequencing studies (PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
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).
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).
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).
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).
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).
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.
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).
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).
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).
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).
T219M missense unknown RUNX1 T219M does not lie within any known functional domains of the Runx1 protein (UniProt.org). T219M has been identified in the scientific literature (PMID: 20955399), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Feb 2020).
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, Feb 2020).
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).
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).
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, Feb 2020).
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, due to the effects of other truncation mutations downstream of V269 (PMID: 25840971), V269Qfs*13 is predicted to lead to a loss of Runx1 protein function.
V425G missense unknown RUNX1 V425G does not lie within any known functional domains of the Runx1 protein (UniProt.org). V425G has been identified in the scientific literature (PMID: 19808697, PMID: 29540347), but has not been biochemically characterized and therefore, its effect on Runx1 protein function is unknown (PubMed, Oct 2019).
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, Feb 2020).
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).
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, due to the effects of other truncation mutations downstream of W252 (PMID: 25840971), W252* is predicted to lead to a loss of Runx1 protein function.
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).
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).
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).
wild-type none no effect Wild-type RUNX1 indicates that no mutation has been detected within the RUNX1 gene.
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).
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, Feb 2020).
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).
ETV6 - RUNX1 fusion gain of function ETV6-RUNX1 results from the fusion of ETV6 and RUNX1, which leads to altered transcriptional regulation resulting in preleukemic cells (PMID: 17325341) and demonstrates upregulation of EPOR, leading to increased cell survival (PMID: 21900195).