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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: 40436

FusionGeneSummary for UBE2H_RBFOX1

check button Fusion gene summary
Fusion gene informationFusion gene name: UBE2H_RBFOX1
Fusion gene ID: 40436
HgeneTgene
Gene symbol

UBE2H

RBFOX1

Gene ID

7328

54715

Gene nameubiquitin conjugating enzyme E2 HRNA binding fox-1 homolog 1
SynonymsE2-20K|GID3|UBC8|UBCH|UBCH22BP1|A2BP1|FOX-1|FOX1|HRNBP1
Cytomap

7q32.2

16p13.3

Type of geneprotein-codingprotein-coding
Descriptionubiquitin-conjugating enzyme E2 H(E3-independent) E2 ubiquitin-conjugating enzyme HE2 ubiquitin-conjugating enzyme HGID complex subunit 3, UBC8 homologubiquitin carrier protein Hubiquitin conjugating enzyme E2Hubiquitin-conjugating enzyme E2-20KubiRNA binding protein fox-1 homolog 1RNA binding protein, fox-1 homolog 1ataxin 2-binding protein 1fox-1 homolog Afox-1-like RNA-binding protein 1hexaribonucleotide binding protein 1 isoform alphahexaribonucleotide binding protein 1 isoform betahexar
Modification date2018052320180523
UniProtAcc

P62256

Q9NWB1

Ensembl transtripts involved in fusion geneENST00000355621, ENST00000473814, 
ENST00000550418, ENST00000553186, 
ENST00000547372, ENST00000422070, 
ENST00000535565, ENST00000547427, 
ENST00000552089, ENST00000547338, 
ENST00000436368, ENST00000311745, 
ENST00000355637, ENST00000340209, 
Fusion gene scores* DoF score6 X 8 X 4=19214 X 12 X 6=1008
# samples 1114
** MAII scorelog2(11/192*10)=-0.803602787196497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/1008*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UBE2H [Title/Abstract] AND RBFOX1 [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
HgeneUBE2H

GO:0070936

protein K48-linked ubiquitination

20061386

HgeneUBE2H

GO:0070979

protein K11-linked ubiquitination

20061386


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
ChiTaRS3.1CD653316UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
* 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-intronENST00000355621ENST00000550418UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000355621ENST00000553186UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000355621ENST00000547372UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000355621ENST00000422070UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000355621ENST00000535565UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000355621ENST00000547427UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000355621ENST00000552089UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000355621ENST00000547338UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000355621ENST00000436368UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000355621ENST00000311745UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000355621ENST00000355637UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000355621ENST00000340209UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000473814ENST00000550418UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000473814ENST00000553186UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000473814ENST00000547372UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000473814ENST00000422070UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000473814ENST00000535565UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000473814ENST00000547427UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000473814ENST00000552089UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000473814ENST00000547338UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000473814ENST00000436368UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000473814ENST00000311745UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000473814ENST00000355637UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+
intron-intronENST00000473814ENST00000340209UBE2Hchr7

129535163

-RBFOX1chr16

6176974

+

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FusionProtFeatures for UBE2H_RBFOX1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UBE2H

P62256

RBFOX1

Q9NWB1

Accepts ubiquitin from the E1 complex and catalyzes itscovalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination. Capable, in vitro, toubiquitinate histone H2A. {ECO:0000269|PubMed:20061386,ECO:0000269|PubMed:8132613}. RNA-binding protein that regulates alternative splicingevents by binding to 5'-UGCAUGU-3' elements. Regulates alternativesplicing of tissue-specific exons and of differentially splicedexons during erythropoiesis. {ECO:0000269|PubMed:16537540}.

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 UBE2H_RBFOX1


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 UBE2H_RBFOX1


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


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 UBE2H_RBFOX1


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 UBE2H_RBFOX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUBE2HC0004352Autistic Disorder1CTD_human
HgeneUBE2HC0032460Polycystic Ovary Syndrome1CTD_human
TgeneRBFOX1C0004352Autistic Disorder2CTD_human
TgeneRBFOX1C0036572Seizures1CTD_human