Gene Detail

Gene Symbol U2AF1
Synonyms FP793 | RN | RNU2AF1 | U2AF35 | U2AFBP
Gene Description U2AF1, splicing factor U2AF 35 kDa subunit, functions in 3' splice site recognition to regulate expression of genes involved in hematological and solid tumor development (PMID: 2963698, PMID: 28986033). U2AF1 is frequently mutated in myelodysplatic syndrome (MDS), chronic myelomonocytic leukemia, atypical CML, acute myeloid leukemia, and lung adenocarcinoma (PMID: 23645565, PMID: 22678168, PMID: 24498085, PMID: 30138727, PMID: 29991672).
Entrez Id 7307
Chromosome 21
Map Location 21q22.3
Canonical Transcript NM_006758

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
S34Y missense gain of function U2AF1 S34Y lies within the C3H1-type 1 Zinc finger region of the U2af1 protein (UniProt.org). S34Y confers a gain of function to the U2af1 protein as indicated by increased aberrant splicing of U2af1 target genes in cell culture (PMID: 25267526, PMID: 25311244).
A26V missense unknown U2AF1 A26V does not lie within any known functional domains of the U2af1 protein (Uniprot.org). A26V has been identified in sequencing studies (PMID: 23775717), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
G218dup duplication unknown U2AF1 G218dup indicates the insertion of the duplicate amino acid, glycine (G)-218 within the RS domain of the U2af1 protein (UniProt.org). G218dup has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
R229K missense unknown U2AF1 R229K lies within the RS domain of the U2af1 protein (UniProt.org). R229K has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
S34X missense unknown U2AF1 S34X indicates any U2af1 missense mutation that results in replacement of the serine (S) at amino acid 34 by a different amino acid.
R28H missense unknown U2AF1 R28H lies within the C3H1-type zinc finger region 1 of the U2af1 protein (UniProt.org). R28H has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
E184D missense unknown U2AF1 E184D lies within the RS domain of the U2af1 protein (UniProt.org). E184D has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
G106E missense unknown U2AF1 G106E lies within the RRM domain of the U2af1 protein (UniProt.org). G106E has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
R156H missense unknown U2AF1 R156H lies within the C3H1-type zinc finger region 2 of the U2af1 protein (UniProt.org). R156H has been identified in sequencing studies (PMID: 29057546), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
R209H missense unknown U2AF1 R209H lies within the RS domain of the U2af1 protein (UniProt.org). R209H has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
P139L missense unknown U2AF1 P139L lies within the RRM domain of the U2af1 protein (UniProt.org). P139L has not been characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
Q157X missense unknown U2AF1 Q157X indicates any U2af1 missense mutation that results in replacement of the glutamine (Q) at amino acid 157 by a different amino acid.
Q138* nonsense unknown U2AF1 Q138* results in a premature truncation of the U2af1 protein at amino acid 138 of 240 (UniProt.org). Q138* has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
R198Q missense unknown U2AF1 R198Q lies within the RS domain of the U2af1 protein (UniProt.org). R198Q has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
I24T missense loss of function - predicted U2AF1 I24T lies within the interface between zinc fingers of the U2af1 protein (PMID: 26215567). I24T may confer a loss of function to the U2af1 protein as demonstrated by loss of RNA binding affinity (PMID: 26215567).
D14G missense unknown U2AF1 D14G lies within the C3H1-type zinc finger region 1 of the U2af1 protein (UniProt.org). D14G has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
V115I missense unknown U2AF1 V115I lies within the RRM domain of the U2af1 protein (UniProt.org). V115I has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
N38H missense unknown U2AF1 N38H lies within the C3H1-type zinc finger region 1 of the U2af1 protein (UniProt.org). N38H has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
R190H missense unknown U2AF1 R190H lies within the RS domain of the U2af1 protein (UniProt.org). R190H has been identified in sequencing studies (PMID: 28584132), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
R239* nonsense unknown U2AF1 R239* results in a premature truncation of the U2af1 protein at amino acid 239 of 240 (UniProt.org). R239* has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
mutant unknown unknown U2AF1 mutant indicates an unspecified mutation in the U2AF1 gene.
R188H missense unknown U2AF1 R188H lies within the RS domain of the U2af1 protein (UniProt.org). R188H has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
T148M missense unknown U2AF1 T148M does not lie within any known functional domains of the U2af1 protein (UniProt.org). T148M has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
G217I missense unknown U2AF1 G217I lies within the RS domain of the U2af1 protein (UniProt.org). G217I has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
Q157R missense gain of function U2AF1 Q157R is a hotspot mutation (PMID: 28986033) that lies within the C3H1-type 2 Zinc finger region of the U2af1 protein (UniProt.org). Q157R confers a gain of function to the U2af1 protein as indicated by increased exon skipping and aberrant splicing of U2af1 target genes in cell culture (PMID: 25267526, PMID: 25311244).
A123V missense unknown U2AF1 A123V lies within the RRM domain of the U2af1 protein (UniProt.org). A123V has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
inact mut unknown loss of function U2AF1 inact mut indicates that this variant results in a loss of function of the U2af1 protein. However, the specific amino acid change has not been identified.
G217S missense unknown U2AF1 G217S lies within the RS domain of the U2af1 protein (UniProt.org). G217S has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
R194S missense unknown U2AF1 R194S lies within the RS domain of the U2af1 protein (UniProt.org). R194S has been identified in sequencing studies (PMID: 28584132), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
S34F missense gain of function U2AF1 S34F is a hotspot mutation (PMID: 28986033) that lies within the C3H1-type 1 Zinc finger region of the U2af1 protein (UniProt.org). S34F confers a gain of function to the U2af1 protein as indicated by aberrant splicing of U2af1 target genes in cell culture (PMID: 25267526, PMID: 28436936), ectopic expression, and promotion of cell proliferation in culture (PMID: 29991672).
I24V missense unknown U2AF1 I24V lies within C3H1-type zinc finger region 1 of the U2af1 protein (UniProt.org). I24V has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
Q157P missense gain of function U2AF1 Q157P is a hotspot mutation (PMID: 28986033) that lies within the C3H1-type 2 Zinc finger region of the U2af1 protein (UniProt.org). Q157P confers a gain of function to the U2af1 protein as indicated by increased exon skipping and aberrant splicing of U2af1 target genes in cell culture (PMID: 25267526, PMID: 25311244).
R234C missense unknown U2AF1 R234C lies within the RS domain of the U2af1 protein (UniProt.org). R234C has not been characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
K191N missense unknown U2AF1 K191N lies within the RS domain of the U2af1 protein (UniProt.org). K191N has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
S231L missense unknown U2AF1 S231L lies within the RS domain of the U2af1 protein (UniProt.org). S231L has not been characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
R182Q missense unknown U2AF1 R182Q lies within the RS domain of the U2af1 protein (UniProt.org). R182Q has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
G213A missense unknown U2AF1 G213A lies within the RS domain of the U2af1 protein (UniProt.org). G213A has been identified in sequencing studies (PMID: 23775717), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Aug 2018).
Molecular Profile Protein Effect Treatment Approaches
U2AF1 S34Y gain of function
U2AF1 A26V unknown
U2AF1 G218dup unknown
U2AF1 R229K unknown
U2AF1 S34X unknown
U2AF1 R28H unknown
U2AF1 E184D unknown
U2AF1 G106E unknown
U2AF1 R156H unknown
U2AF1 R209H unknown
U2AF1 P139L unknown
U2AF1 Q157X unknown
U2AF1 Q138* unknown
U2AF1 R198Q unknown
U2AF1 I24T loss of function - predicted
U2AF1 D14G unknown
U2AF1 V115I unknown
U2AF1 N38H unknown
U2AF1 R190H unknown
U2AF1 R239* unknown
U2AF1 mutant unknown
U2AF1 R188H unknown
U2AF1 T148M unknown
U2AF1 G217I unknown
U2AF1 Q157R gain of function
U2AF1 A123V unknown
U2AF1 inact mut loss of function
U2AF1 G217S unknown
U2AF1 R194S unknown
U2AF1 S34F gain of function
U2AF1 I24V unknown
U2AF1 Q157P gain of function
U2AF1 R234C unknown
U2AF1 K191N unknown
U2AF1 S231L unknown
U2AF1 R182Q unknown
U2AF1 G213A unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
U2AF1 S34X myelodysplastic syndrome not applicable N/A Guideline Prognostic U2AF1 S34X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
U2AF1 Q157X myelodysplastic syndrome not applicable N/A Guideline Prognostic U2AF1 Q157X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
U2AF1 mutant myelodysplastic syndrome not applicable N/A Clinical Study Emerging In multiple clinical studies, the presence of U2AF1 mutations was associated with a trend toward risk of progression to acute myeloid leukemia, however, the prognostic significance of U2AF1 mutations is still unclear (PMID: 25465125, PMID: 22158538, PMID: 22389253). 22158538 22389253 25465125
U2AF1 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic U2AF1 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
U2AF1 mutant essential thrombocythemia not applicable N/A Guideline Prognostic The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SF3B1, EZH2, or TP53 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org). detail...
U2AF1 S34F lung cancer sensitive H3B-8800 Preclinical - Cell line xenograft Actionable In a preclinical study, H3B-8800 preferentially inhibited growth of lung cancer cells harboring U2AF1 S34F compared to U2AF1 wild-type cells in culture and in cell line xenograft models (Cancer Res 2017;77(13 Suppl):Abstract nr 1185). detail...