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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 13887

FusionGeneSummary for FRMD3_U2AF1

check button Fusion gene summary
Fusion gene informationFusion gene name: FRMD3_U2AF1
Fusion gene ID: 13887
HgeneTgene
Gene symbol

FRMD3

U2AF1

Gene ID

257019

7307

Gene nameFERM domain containing 3U2 small nuclear RNA auxiliary factor 1
Synonyms4.1O|EPB41L4O|EPB41LO|P410FP793|RN|RNU2AF1|U2AF35|U2AFBP
Cytomap

9q21.32

21q22.3

Type of geneprotein-codingprotein-coding
DescriptionFERM domain-containing protein 3band 4.1-like protein 4band 4.1-like protein 4Oovary type protein 4.1protein 4.1Osplicing factor U2AF 35 kDa subunitU2 small nuclear RNA auxillary factor 1U2 small nuclear ribonucleoprotein auxillary factor, 35-KD subunitU2 snRNP auxiliary factor small subunitU2(RNU2) small nuclear RNA auxiliary factor binding proteinsplicing fac
Modification date2018052320180523
UniProtAcc

A2A2Y4

Q01081

Ensembl transtripts involved in fusion geneENST00000376438, ENST00000304195, 
ENST00000328788, ENST00000376434, 
ENST00000465485, 		ENST00000459639, 
ENST00000380276, ENST00000291552, 
ENST00000398137, ENST00000486519, 
Fusion gene scores* DoF score3 X 3 X 3=274 X 4 X 2=32
# samples 34
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FRMD3 [Title/Abstract] AND U2AF1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDPCPGTCGA-RW-A8AZ-01AFRMD3chr9

85896465

-U2AF1chr21

44524512

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-5UTRENST00000376438ENST00000459639FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000376438ENST00000380276FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000376438ENST00000291552FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000376438ENST00000398137FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000376438ENST00000486519FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000304195ENST00000459639FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000304195ENST00000380276FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000304195ENST00000291552FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000304195ENST00000398137FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000304195ENST00000486519FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000328788ENST00000459639FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000328788ENST00000380276FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000328788ENST00000291552FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000328788ENST00000398137FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000328788ENST00000486519FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000376434ENST00000459639FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000376434ENST00000380276FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000376434ENST00000291552FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000376434ENST00000398137FRMD3chr9

85896465

-U2AF1chr21

44524512

-
intron-5UTRENST00000376434ENST00000486519FRMD3chr9

85896465

-U2AF1chr21

44524512

-
5UTR-5UTRENST00000465485ENST00000459639FRMD3chr9

85896465

-U2AF1chr21

44524512

-
5UTR-5UTRENST00000465485ENST00000380276FRMD3chr9

85896465

-U2AF1chr21

44524512

-
5UTR-5UTRENST00000465485ENST00000291552FRMD3chr9

85896465

-U2AF1chr21

44524512

-
5UTR-5UTRENST00000465485ENST00000398137FRMD3chr9

85896465

-U2AF1chr21

44524512

-
5UTR-5UTRENST00000465485ENST00000486519FRMD3chr9

85896465

-U2AF1chr21

44524512

-

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FusionProtFeatures for FRMD3_U2AF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FRMD3

A2A2Y4

U2AF1

Q01081

Plays a critical role in both constitutive and enhancer-dependent splicing by mediating protein-protein interactions andprotein-RNA interactions required for accurate 3'-splice siteselection. Recruits U2 snRNP to the branch point. Directlymediates interactions between U2AF2 and proteins bound to theenhancers and thus may function as a bridge between U2AF2 and theenhancer complex to recruit it to the adjacent intron.{ECO:0000269|PubMed:22158538, ECO:0000269|PubMed:25311244,ECO:0000269|PubMed:8647433}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for FRMD3_U2AF1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for FRMD3_U2AF1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
FRMD3ATP5D, ATP5O, OXA1L, COLEC12, LCLAT1, KLHL15, REEP4, KIAA1467, GYLTL1B, CKAP4, LMBR1U2AF1U2AF2, RP9, RNU11, ZRANB2, SRSF1, SRSF2, SF3A2, NXF1, MEPCE, NOP56, HDGF, CUL3, CUL1, CAND1, HINFP, PRPF8, SNRPA1, SFPQ, SF3B1, PRPF6, SF3A1, SNRPD2, HNRNPU, SRSF7, NHP2L1, SF3B3, SRSF5, SF3B6, DHX9, HNRNPM, CDC5L, SART1, RPL37A, NOP58, SRRM2, PRPF19, RPS14, RPS24, THOC6, ZCCHC8, RPS7, DDX5, FBL, RPS13, RBM25, RPS2, IK, SYNCRIP, RPL15, BCAS2, SAP18, RPS4X, SAFB, S100A9, RRP7A, RRS1, SEPT2, RCC1, NCSTN, PHGDH, SON, RAN, SEPT7, MCM5, DIDO1, PSAP, VPRBP, TUBA1B, PSIP1, RPLP0P6, BARD1, SMURF1, FN1, SNRPD1, PRPF40A, SF3B2, CHERP, RBM10, PRPF4, PRPF38A, MFAP1, DHX38, RNPS1, FRA10AC1, NKAP, TOE1, ZCCHC10, PABPC1, SRPK1, SRPK2, IL7R, CIR1, JMJD6, SUV39H1, VEGFA, SRPK3, TERF1, NDN, AP2B1, CLK2, HNRNPK, CUL7, OBSL1, EZH2, SUZ12, RNF2, FTSJ3, DDX56, LUC7L2, RNU12, NTRK1, EWSR1, TSNAX, SNW1, CFAP20, ZNF746, SCAF11, U2AF1L4, C9orf41, ACIN1, GSK3B, NCL, G3BP1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for FRMD3_U2AF1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for FRMD3_U2AF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFRMD3C0263454Chloracne1CTD_human
TgeneU2AF1C0019693HIV Infections1CTD_human
TgeneU2AF1C0029456Osteoporosis1CTD_human
TgeneU2AF1C3463824MYELODYSPLASTIC SYNDROME1CTD_human