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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: 30451

FusionGeneSummary for RAPGEF6_POU4F3

check button Fusion gene summary
Fusion gene informationFusion gene name: RAPGEF6_POU4F3
Fusion gene ID: 30451
HgeneTgene
Gene symbol

RAPGEF6

POU4F3

Gene ID

51735

5459

Gene nameRap guanine nucleotide exchange factor 6POU class 4 homeobox 3
SynonymsKIA001LB|PDZ-GEF2|PDZGEF2|RA-GEF-2|RAGEF2BRN3C|DFNA15|DFNA42|DFNA52
Cytomap

5q31.1

5q32

Type of geneprotein-codingprotein-coding
Descriptionrap guanine nucleotide exchange factor 6PDZ domain containing guanine nucleotide exchange factor (GEF) 2PDZ domain-containing guanine nucleotide exchange factor 2PDZ domain-containing guanine nucleotide exchange factor IRap guanine nucleotide exchangePOU domain, class 4, transcription factor 3brain-3Cbrain-specific homeobox/POU domain protein 3Cbrn-3Cdeafness, autosomal dominant 42
Modification date2018051920180519
UniProtAcc

Q8TEU7

Q15319

Ensembl transtripts involved in fusion geneENST00000509018, ENST00000307984, 
ENST00000507093, ENST00000296859, 
ENST00000512052, ENST00000308008, 
ENST00000510071, ENST00000503398, 
ENST00000230732, 
Fusion gene scores* DoF score5 X 5 X 3=751 X 1 X 1=1
# samples 51
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: RAPGEF6 [Title/Abstract] AND POU4F3 [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
TgenePOU4F3

GO:0045944

positive regulation of transcription by RNA polymerase II

15465029|23805044


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
TCGALDOVTCGA-10-0927-01ARAPGEF6chr5

130970655

-POU4F3chr5

145718666

+
* 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
5CDS-5UTRENST00000509018ENST00000230732RAPGEF6chr5

130970655

-POU4F3chr5

145718666

+
5CDS-5UTRENST00000307984ENST00000230732RAPGEF6chr5

130970655

-POU4F3chr5

145718666

+
5CDS-5UTRENST00000507093ENST00000230732RAPGEF6chr5

130970655

-POU4F3chr5

145718666

+
5CDS-5UTRENST00000296859ENST00000230732RAPGEF6chr5

130970655

-POU4F3chr5

145718666

+
intron-5UTRENST00000512052ENST00000230732RAPGEF6chr5

130970655

-POU4F3chr5

145718666

+
5CDS-5UTRENST00000308008ENST00000230732RAPGEF6chr5

130970655

-POU4F3chr5

145718666

+
5CDS-5UTRENST00000510071ENST00000230732RAPGEF6chr5

130970655

-POU4F3chr5

145718666

+
intron-5UTRENST00000503398ENST00000230732RAPGEF6chr5

130970655

-POU4F3chr5

145718666

+

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FusionProtFeatures for RAPGEF6_POU4F3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RAPGEF6

Q8TEU7

POU4F3

Q15319

Guanine nucleotide exchange factor (GEF) for Rap1A,Rap2A and M-Ras GTPases. Does not interact with cAMP.{ECO:0000269|PubMed:11524421, ECO:0000269|PubMed:12581858}. Acts as a transcriptional activator (PubMed:18228599).Acts by binding to sequences related to the consensus octamermotif 5'-ATGCAAAT-3' in the regulatory regions of its target genes(PubMed:18228599). Involved in the auditory system development,required for terminal differentiation of hair cells in the innerear (By similarity). {ECO:0000250|UniProtKB:Q63955,ECO:0000269|PubMed:18228599}.

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 RAPGEF6_POU4F3


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 RAPGEF6_POU4F3


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
RAPGEF6RAP1A, RAP2A, MRAS, YWHAB, NEDD4, ENO1, SHMT2, MOV10, NXF1, YAP1, CEP120, DYNLT1, XPO1, SSSCA1, SERPINB2, APBA3, AURKA, GRN, TRIM25, WWC1POU4F3AURKA


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 RAPGEF6_POU4F3


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 RAPGEF6_POU4F3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRAPGEF6C0036341Schizophrenia2PSYGENET
TgenePOU4F3C1865366Deafness, Autosomal Dominant 151CTD_human;UNIPROT