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Gene Symbol ASXL1
Synonyms BOPS | MDS
Gene Description ASXL1, additional sex combs like 1, transcriptional regulator, is involved in epigenetic regulation of gene expression and forms complexes with several proteins to regulate transcription (PMID: 23736028). Mutations in ASXL1 are frequent in chronic myelomonocytic leukemia (PMID: 26771811, PMID: 23736028), and have been identified in a number of different tumor types including acute myeloid leukemia and liver cancer (PMID: 23736028).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1312S missense unknown ASXL1 A1312S does not lie within any known functional domains of the Asxl1 protein (UniProt.org). A1312S has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
A1312V missense unknown ASXL1 A1312V does not lie within any known functional domains of the Asxl1 protein (UniProt.org). A1312V has been identified in sequencing studies (PMID: 27881874, PMID: 21712540), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
A158T missense unknown ASXL1 A158T does not lie within any known functional domains of the Asxl1 protein (UniProt.org). A158T has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
A158V missense unknown ASXL1 A158V does not lie within any known functional domains of the Asxl1 protein (UniProt.org). A158V has been identified in sequencing studies (PMID: 25512523), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
A498S missense unknown ASXL1 A498S lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). A498S has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
A54S missense unknown ASXL1 A54S lies within the ASXN domain of the Asxl1 protein (PMID: 19609284). A54S has been identified in sequencing studies (PMID: 25929848), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
A627V missense unknown ASXL1 A627V lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). A627V has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
amp none no effect ASXL1 amplification indicates an increased number of copies of the ASXL1 gene. However, the mechanism causing the increase is unspecified.
D1004N missense unknown ASXL1 D1004N does not lie within any known functional domains of the Asxl1 protein (UniProt.org). D1004N has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
D475N missense unknown ASXL1 D475N lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). D475N has been identified in sequencing studies (PMID: 30617194), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
D521N missense unknown ASXL1 D521N lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). D521N has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
D544N missense unknown ASXL1 D544N lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). D544N has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
D756N missense unknown ASXL1 D756N does not lie within any known functional domains of the Asxl1 protein (UniProt.org). D756N has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
E1102D missense unknown ASXL1 E1102D does not lie within any known functional domains of the Asxl1 protein (UniProt.org). E1102D has been identified in the scientific literature (PMID: 22390313, PMID: 29089644), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
E1228* nonsense gain of function - predicted ASXL1 E1228* results in a premature truncation of the Asxl1 protein at amino acid 1228 of 1541 (UniProt.org). E1228* has not been characterized, however, due to the effects of other truncation mutations upstream of E1228 (PMID: 26095772, PMID: 30013160), is predicted to lead to a gain of Asxl1 protein function.
E537D missense unknown ASXL1 E537D lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). E537D has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
E635Rfs*15 frameshift gain of function ASXL1 E635Rfs*15 indicates a shift in the reading frame starting at amino acid 635 and terminating 15 residues downstream causing a premature truncation of the 1541 amino acid Asxl1 protein (UniProt.org). E635Rfs*15 results in increased nuclear localization and catalytic activity of Bap1, reduced H2AK119 ubiquitination, and impaired myeloid differentiation compared to wild-type in cultured cells (PMID: 30013160), and therefore, leads to a gain of Asxl1 protein function.
E727K missense unknown ASXL1 E727K does not lie within any known functional domains of the Asxl1 protein (UniProt.org). E727K has been identified in sequencing studies (PMID: 28027327), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
E865K missense unknown ASXL1 E865K does not lie within any known functional domains of the Asxl1 protein (UniProt.org). E865K has been identified in sequencing studies (PMID: 27908881), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
E997* nonsense gain of function - predicted ASXL1 E997* results in a premature truncation of the Asxl1 protein at amino acid 997 of 1541 (UniProt.org). E997* has not been characterized, however, due to the effects of other truncation mutations upstream of E997 (PMID: 26095772, PMID: 27214377, PMID: 30013160), is predicted to lead to a gain of Asxl1 protein function.
F1305* nonsense gain of function - predicted ASXL1 F1305* results in a premature truncation of the Asxl1 protein at amino acid 1305 of 1541 (UniProt.org). F1305* results in increased catalytic activity of Bap1 as demonstrated by the loss of H2AK119 ubiquitination compared to wild-type in cultured cells (PMID: 26095772), and therefore, is predicted to lead to a gain of Asxl1 protein function.
G1299D missense unknown ASXL1 G1299D does not lie within any known functional domains of the Asxl1 protein (UniProt.org). G1299D has not been characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
G42* nonsense loss of function - predicted ASXL1 G42* results in a premature truncation of the Asxl1 protein at amino acid 42 of 1541 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), G42* is predicted to lead to a loss of Asxl1 protein function.
G643fs frameshift gain of function - predicted ASXL1 G643fs results in a change in the amino acid sequence of the Asxl1 protein beginning at aa 643 of 1541, likely resulting in premature truncation of the functional protein (UniProt.org). G643fs has not been characterized, however, due to the effects of other truncation mutations upstream of G643 (PMID: 26095772, PMID: 30013160), is predicted to lead to a gain of Asxl1 protein function.
G645Vfs*58 frameshift gain of function - predicted ASXL1 G645Vfs*58 indicates a shift in the reading frame starting at amino acid 645 and terminating 58 residues downstream causing a premature truncation of the 1541 amino acid Asxl1 protein (UniProt.org). G645Vfs*58 has not been characterized, however, due to the effects of other truncation mutations upstream of G645 (PMID: 26095772, PMID: 30013160), is predicted to lead to a gain of Asxl1 protein function.
G646fs frameshift gain of function - predicted ASXL1 G646fs results in a change in the amino acid sequence of the Asxl1 protein beginning at aa 646 of 1541, likely resulting in premature truncation of the functional protein (UniProt.org). G646fs has not been characterized, however, based on the effects of a similar frameshift at G646 (PMID: 26095772), it is predicted to lead to a gain of Asxl1 protein function.
G646W missense unknown ASXL1 G646W lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). G646W has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Feb 2020).
G646Wfs*12 frameshift gain of function ASXL1 G646Wfs*12 indicates a shift in the reading frame starting at amino acid 646 and terminating 12 residues downstream causing a premature truncation of the 1541 amino acid Asxl1 protein (UniProt.org). G646Wfs*12 results in increased catalytic activity of Bap1 as demonstrated by the loss of H2AK119 ubiquitination, decreased H3K27me3 levels, and impaired myeloid differentiation compared to wild-type in cultured cells (PMID: 26095772), and therefore, leads to a gain of Asxl1 protein function.
G660D missense unknown ASXL1 G660D does not lie within any known functional domains of the Asxl1 protein (UniProt.org). G660D has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
G679* nonsense gain of function - predicted ASXL1 G679* results in a premature truncation of the Asxl1 protein at amino acid 679 of 1541 (UniProt.org). G679* has not been characterized, however, due to the effects of other truncation mutations upstream of G679 (PMID: 26095772, PMID: 30013160), is predicted to lead to a gain of Asxl1 protein function.
G685R missense unknown ASXL1 G685R does not lie within any known functional domains of the Asxl1 protein (UniProt.org). G685R has been identified in the scientific literature (PMID: 26082670), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
G812C missense unknown ASXL1 G812C does not lie within any known functional domains of the Asxl1 protein (UniProt.org). G812C has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
G967del deletion unknown ASXL1 G967del results in the deletion of one amino acid of the Asxl1 protein at amino acid 967 (UniProt.org). G967del has been identified in sequencing studies (PMID: 30171174, PMID: 21712540), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
I579S missense unknown ASXL1 I579S lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). I579S has been identified in sequencing studies (PMID: 23525077), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
inact mut unknown loss of function ASXL1 inact mut indicates that this variant results in a loss of function of the Asxl1 protein. However, the specific amino acid change has not been identified.
K162E missense unknown ASXL1 K162E lies within the nuclear localization signal motif 1 of the Asxl1 protein (UniProt.org). K162E has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
K163T missense unknown ASXL1 K163T lies within the nuclear localization signal motif 1 of the Asxl1 protein (UniProt.org). K163T has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
K383* nonsense loss of function - predicted ASXL1 K383* results in a premature truncation of the Asxl1 protein at amino acid 383 of 1541 (UniProt.org). K383* has not been characterized, however, due to the effects of other ASXL1 truncation mutations (PMID: 24216483, PMID: 22897849), is predicted to result in a loss of Asxl1 protein function.
L1325F missense unknown ASXL1 L1325F does not lie within any known functional domains of the Asxl1 protein (UniProt.org). L1325F has been identified in sequencing studies (PMID: 26222071, PMID: 21712540), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
L145F missense unknown ASXL1 L145F does not lie within any known functional domains of the Asxl1 protein (UniProt.org). L145F has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
L1467I missense unknown ASXL1 L1467I does not lie within any known functional domains of the Asxl1 protein (UniProt.org). L1467I has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
L56I missense unknown ASXL1 L56I lies within the ASXN domain of the Asxl1 protein (PMID: 19609284). L56I has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
M1161I missense unknown ASXL1 M1161I does not lie within any known functional domains of the Asxl1 protein (UniProt.org). M1161I has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
M29V missense unknown ASXL1 M29V lies within the ASXN domain of the Asxl1 protein (PMID: 19609284). M29V has been identified in sequencing studies (PMID: 27245685, PMID: 21455215), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
mutant unknown unknown ASXL1 mutant indicates an unspecified mutation in the ASXL1 gene.
N986S missense unknown ASXL1 N986S does not lie within any known functional domains of the Asxl1 protein (UniProt.org). N986S has been identified in the scientific literature (PMID: 21576631, PMID: 29456859, PMID: 28754985), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Jan 2020).
P1117L missense unknown ASXL1 P1117L does not lie within any known functional domains of the Asxl1 protein (UniProt.org). P1117L has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
P1360S missense unknown ASXL1 P1360S does not lie within any known functional domains of the Asxl1 protein (UniProt.org). P1360S has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
P1392L missense unknown ASXL1 P1392L does not lie within any known functional domains of the Asxl1 protein (UniProt.org). P1392L has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
P479* nonsense gain of function ASXL1 P479* results in a premature truncation of the Asxl1 protein at amino acid 479 of 1541 (UniProt.org). P479* results in increased catalytic activity of Bap1 as demonstrated by the loss of H2AK119 ubiquitination, decreased H3K27me3 levels, and impaired myeloid differentiation compared to wild-type in cultured cells (PMID: 26095772), and therefore, leads to a gain of Asxl1 protein function.
P494S missense unknown ASXL1 P494S lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). P494S has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
P567L missense unknown ASXL1 P567L lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). P567L has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
Q1491* nonsense unknown ASXL1 Q1491* results in a premature truncation of the Asxl1 protein at amino acid 1491 of 1541 (UniProt.org). Q1491* has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
Q512* nonsense gain of function - predicted ASXL1 Q512* results in a premature truncation of the Asxl1 protein at amino acid 512 of 1541 (UniProt.org). Q512* has not been characterized, however, due to the effects of other truncation mutations upstream of Q512 (PMID: 26095772, PMID: 30013160), is predicted to lead to a gain of Asxl1 protein function.
Q588R missense unknown ASXL1 Q588R lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). Q588R has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
Q733* nonsense gain of function - predicted ASXL1 Q733* results in a premature truncation of the Asxl1 protein at amino acid 733 of 1541 (UniProt.org). Q733* has not been characterized, however, due to the effects of other truncation mutations upstream of Q733 (PMID: 26095772, PMID: 30013160), is predicted to lead to a gain of Asxl1 protein function.
R1090K missense unknown ASXL1 R1090K does not lie within any known functional domains of the Asxl1 protein (UniProt.org). R1090K has been identified in sequencing studies (PMID: 28916733), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
R1090T missense unknown ASXL1 R1090T does not lie within any known functional domains of the Asxl1 protein (UniProt.org). R1090T has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
R1247C missense unknown ASXL1 R1247C does not lie within any known functional domains of the Asxl1 protein (UniProt.org). R1247C has been identified in sequencing studies (PMID: 30171174), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
R1273H missense unknown ASXL1 R1273H does not lie within any known functional domains of the Asxl1 protein (UniProt.org). R1273H has been identified in sequencing studies (PMID: 26118316), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
R1415* nonsense unknown ASXL1 R1415* results in a premature truncation of the Asxl1 protein at amino acid 1415 of 1541 (UniProt.org). R1415* has been identified in sequencing studies (PMID: 29567774), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
R143* nonsense loss of function - predicted ASXL1 R143* results in a premature truncation of the Asxl1 protein at amino acid 143 of 1541 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), R143* is predicted to lead to a loss of Asxl1 protein function.
R244H missense unknown ASXL1 R244H lies within the ASXM domain of the Asxl1 protein (PMID: 19609284). R244H has been identified in sequencing studies (PMID: 28513873), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
R265H missense unknown ASXL1 R265H lies within the ASXM domain of the Asxl1 protein (PMID: 19609284). R265H has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
R302C missense unknown ASXL1 R302C lies within the ASXM domain and NCOA1-interacting region of the Asxl1 protein (PMID: 19609284, UniProt.org). R302C has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
R404* nonsense gain of function ASXL1 R404* results in a premature truncation of the Asxl1 protein at amino acid 404 of 1541 (UniProt.org). R404* results in increased catalytic activity of Bap1 as demonstrated by the loss of H2AK119 ubiquitination, decreased H3K27me3 levels, and impaired myeloid differentiation compared to wild-type in cultured cells (PMID: 26095772), and therefore, leads to a gain of Asxl1 protein function.
R419K missense unknown ASXL1 R419K lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). R419K has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
R545H missense unknown ASXL1 R545H lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). R545H has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
R545P missense unknown ASXL1 R545P lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). R545P has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
R549H missense unknown ASXL1 R549H lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). R549H has been identified in sequencing studies (PMID: 28098136), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
R693* nonsense gain of function - predicted ASXL1 R693* results in a premature truncation of the Asxl1 protein at amino acid 693 of 1541 (UniProt.org). R693* has not been characterized, however, due to the effects of other truncation mutations upstream of R693 (PMID: 26095772PMID: 30013160), is predicted to lead to a gain of Asxl1 protein function.
R965* nonsense gain of function - predicted ASXL1 R965* results in a premature truncation of the Asxl1 protein at amino acid 965 of 1541 (UniProt.org). R965* has not been characterized, however, due to the effects of other truncation mutations upstream of R965 (PMID: 26095772, PMID: 30013160), is predicted to lead to a gain of Asxl1 protein function.
S1028L missense unknown ASXL1 S1028L does not lie within any known functional domains of the Asxl1 protein (UniProt.org). S1028L has been identified in sequencing studies (PMID: 29249691), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Jan 2020).
S1209N missense unknown ASXL1 S1209N does not lie within any known functional domains of the Asxl1 protein (UniProt.org). S1209N has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
S120N missense unknown ASXL1 S120N does not lie within any known functional domains of the Asxl1 protein (UniProt.org). S120N has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
S203F missense unknown ASXL1 S203F does not lie within any known functional domains of the Asxl1 protein (UniProt.org). S203F has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
S441F missense unknown ASXL1 S441F lies within the NCOA1-interacting region of the Asxl1 protein (UniProt.org). S441F has been identified in sequencing studies (PMID: 25303977), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
S577* nonsense gain of function - predicted ASXL1 S577* results in a premature truncation of the Asxl1 protein at amino acid 577 of 1541 (UniProt.org). S577* has not been characterized, however, due to the effects of other truncation mutations upstream of S577 (PMID: 26095772, PMID: 30013160), is predicted to lead to a gain of Asxl1 protein function.
S723F missense unknown ASXL1 S723F does not lie within any known functional domains of the Asxl1 protein (UniProt.org). S723F has been identified in sequencing studies (PMID: 27245685), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
S791F missense unknown ASXL1 S791F does not lie within any known functional domains of the Asxl1 protein (UniProt.org). S791F has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
V1246D missense unknown ASXL1 V1246D does not lie within any known functional domains of the Asxl1 protein (UniProt.org). V1246D has not been characterized in the scientific literature and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
W796C missense unknown ASXL1 W796C does not lie within any known functional domains of the Asxl1 protein (UniProt.org). W796C has been identified in sequencing studies (PMID: 29296220), but has not been biochemically characterized and therefore, its effect on Asxl1 protein function is unknown (PubMed, Mar 2020).
wild-type none no effect Wild-type ASXL1 indicates that no mutation has been detected within the ASXL1 gene.
Y591* nonsense gain of function ASXL1 Y591* results in a premature truncation of the Asxl1 protein at amino acid 591 of 1541 (UniProt.org). Y591* results in increased catalytic activity of Bap1 as demonstrated by the loss of H2AK119 ubiquitination, decreased H3K27me3 levels, and impaired myeloid differentiation compared to wild-type in cultured cells (PMID: 26095772), and therefore, leads to a gain of Asxl1 protein function.