Gene

U2AF1

U2 small nuclear RNA auxiliary factor 1

Explore in graph →CI-GENE-00037672HGNC:12453 ENSG00000160201 NCBI 7307 CIViC Cancer geneApproved

Curated evidence

Clinical evidence (9)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–9 of 9 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
U2AF1 I24T1
(functional)	—UNRESOLVED	Functional	D	Supports Loss Of Function	2	submitted	EID10212 Analysis of the U2AF small subunit (U2AF23) in fission yeast, U2AF35 in humans, found that mutation I24T is at the interface between the zinc finger motifs and results in a threefold RNA-binding activ… (full text at CIViC) PMID 26215567 · Yoshida et al., 2015 · Open in CIViC	civic
U2AF1 MUTATION1
(prognostic)	Primary MyelofibrosisALIAS	Prognostic	B	Supports Poor Outcome	4	accepted	EID1262 In a large study of patients with primary myelofibrosis evaluating mutations associated with anemia, 457 patients were evaluated for U2AF1 mutations. U2AF1 mutations were significantly associated with…

Cohorts

Alteration frequency by cohort (59)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved59 cohort rows (showing 9, sorted by frequency) · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Intrahepatic Cholangiocarcinoma (MSK, Hepatology 2021) ihch_msk_2021	Intrahepatic Cholangiocarcinoma	Ssm

Literature

Linked publications (3)

25 per page, newest first.

pubmedPublishedShowing 1–3 of 3 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Molecular correlates of anemia in primary myelofibrosis: a significant and independent association with U2AF1 mutations.
· Blood Cancer J · 2016 · PMID 27058230 · validated civic_curation pubmed
Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression.
· Am J Hematol · 2013 · PMID 23861105 · validated civic_curation pubmed
U2AF1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome.
· PLoS One · 2012 · PMID 23029227 · validated civic_curation pubmed

U2AF1 Q157P/R4
(diagnostic)	Acute Myeloid LeukemiaCURATED_BROADER	Diagnostic	B	Does Not Support Positive	3	submitted	EID217 Age, sex, FAB subtype and karyotypes were not statistically significant between AML patients with U2AF Q157P/R mutations and those who harbor wild type U2AF. PMID 23029227 · Qian et al., 2012 · Open in CIViC	civic
(prognostic)	Myelodysplastic SyndromeCURATED_BROADER	Prognostic	B	Supports Poor Outcome	3	accepted	EID400 After adjusting for age and cancer stage, presence of U2AF mutation such as Q157P/R is prognostic for poorer survival outcomes in patients with MDS. PMID 23861105 · Wu et al., 2013 · Open in CIViC	civic
〃	Acute Myeloid LeukemiaCURATED_BROADER	Prognostic	B	Does Not Support N/A	2	accepted	EID338 In patients with AML, those who harbor Q157P/R mutation of U2AF1 do not show a statistically significant difference in complete remission rate compared to those who harbor wild type U2AF1. PMID 23029227 · Qian et al., 2012 · Open in CIViC	civic
〃	Myelodysplastic SyndromeCURATED_BROADER	Prognostic	B	Does Not Support N/A	2	accepted	EID339 In patients with MDS, those who harbor Q157P/R mutation of U2AF do not show statistical significance in complete remission rate compared to those who harbor wild type U2AF. PMID 23029227 · Qian et al., 2012 · Open in CIViC	civic

U2AF1 Q157P/R4

(diagnostic)

Acute Myeloid LeukemiaCURATED_BROADER

Diagnostic

Does Not Support Positive

submitted

EID217

Age, sex, FAB subtype and karyotypes were not statistically significant between AML patients with U2AF Q157P/R mutations and those who harbor wild type U2AF.

PMID 23029227 · Qian et al., 2012 · Open in CIViC

civic

(prognostic)

Myelodysplastic SyndromeCURATED_BROADER

Prognostic

Supports Poor Outcome

accepted

EID400

After adjusting for age and cancer stage, presence of U2AF mutation such as Q157P/R is prognostic for poorer survival outcomes in patients with MDS.

PMID 23861105 · Wu et al., 2013 · Open in CIViC

civic

〃

Acute Myeloid LeukemiaCURATED_BROADER

Prognostic

Does Not Support N/A

accepted

EID338

In patients with AML, those who harbor Q157P/R mutation of U2AF1 do not show a statistically significant difference in complete remission rate compared to those who harbor wild type U2AF1.

PMID 23029227 · Qian et al., 2012 · Open in CIViC

civic

〃

Myelodysplastic SyndromeCURATED_BROADER

Prognostic

Does Not Support N/A

accepted

EID339

In patients with MDS, those who harbor Q157P/R mutation of U2AF do not show statistical significance in complete remission rate compared to those who harbor wild type U2AF.

PMID 23029227 · Qian et al., 2012 · Open in CIViC

civic

U2AF1 S34Y/F3
(diagnostic)	Acute Myeloid LeukemiaCURATED_BROADER	Diagnostic	B	Does Not Support Positive	3	submitted	EID218 Age, sex, FAB subtype and karyotypes were not statistically significant between AML patients with U2AF S34Y/F mutations and those who harbor wild type U2AF. PMID 23029227 · Qian et al., 2012 · Open in CIViC	civic
(prognostic)	Myelodysplastic SyndromeCURATED_BROADER	Prognostic	B	Supports Poor Outcome	3	accepted	EID401 After adjusting for age and cancer stage, the presence of U2AF mutations such as S34Y/F are prognostic for poorer survival outcomes in patients with MDS. PMID 23861105 · Wu et al., 2013 · Open in CIViC	civic
〃	Acute Myeloid LeukemiaCURATED_BROADER	Prognostic	B	Does Not Support N/A	2	accepted	EID340 In patients with AML, complete remission rates are not different between patients who harbor the U2AF1 S34Y/F mutation and those with wild type U2AF1. PMID 23029227 · Qian et al., 2012 · Open in CIViC	civic

U2AF1 S34Y/F3

(diagnostic)

Acute Myeloid LeukemiaCURATED_BROADER

Diagnostic

Does Not Support Positive

submitted

EID218

Age, sex, FAB subtype and karyotypes were not statistically significant between AML patients with U2AF S34Y/F mutations and those who harbor wild type U2AF.

PMID 23029227 · Qian et al., 2012 · Open in CIViC

civic

(prognostic)

Myelodysplastic SyndromeCURATED_BROADER

Prognostic

Supports Poor Outcome

accepted

EID401

After adjusting for age and cancer stage, the presence of U2AF mutations such as S34Y/F are prognostic for poorer survival outcomes in patients with MDS.

PMID 23861105 · Wu et al., 2013 · Open in CIViC

civic

〃

Acute Myeloid LeukemiaCURATED_BROADER

Prognostic

Does Not Support N/A

accepted

EID340

In patients with AML, complete remission rates are not different between patients who harbor the U2AF1 S34Y/F mutation and those with wild type U2AF1.

PMID 23029227 · Qian et al., 2012 · Open in CIViC

civic