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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: 17867

FusionGeneSummary for ITGB4_ENDOV

check button Fusion gene summary
Fusion gene informationFusion gene name: ITGB4_ENDOV
Fusion gene ID: 17867
HgeneTgene
Gene symbol

ITGB4

ENDOV

Gene ID

3691

284131

Gene nameintegrin subunit beta 4endonuclease V
SynonymsCD104|GP150-
Cytomap

17q25.1

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionintegrin beta-4CD104 antigenendonuclease VhEndoVinosine-specific endoribonuclease
Modification date2018052720180523
UniProtAcc

P16144

Q8N8Q3

Ensembl transtripts involved in fusion geneENST00000579662, ENST00000339591, 
ENST00000200181, ENST00000450894, 
ENST00000449880, ENST00000584558, 
ENST00000520367, ENST00000518137, 
ENST00000523999, ENST00000323854, 
ENST00000522751, ENST00000520284, 
ENST00000517795, ENST00000518907, 
ENST00000521847, ENST00000518644, 
ENST00000518901, ENST00000517295, 
Fusion gene scores* DoF score15 X 12 X 8=14403 X 3 X 3=27
# samples 163
** MAII scorelog2(16/1440*10)=-3.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ITGB4 [Title/Abstract] AND ENDOV [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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
HgeneITGB4

GO:0009611

response to wounding

19403692

HgeneITGB4

GO:0031581

hemidesmosome assembly

12482924


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
TCGALDKIRPTCGA-HE-7130-01AITGB4chr17

73729773

+ENDOVchr17

78403573

+
* 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
Frame-shiftENST00000579662ENST00000520367ITGB4chr17

73729773

+ENDOVchr17

78403573

+
Frame-shiftENST00000579662ENST00000518137ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000579662ENST00000523999ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000579662ENST00000323854ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000579662ENST00000522751ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000579662ENST00000520284ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000579662ENST00000517795ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000579662ENST00000518907ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000579662ENST00000521847ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000579662ENST00000518644ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000579662ENST00000518901ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000579662ENST00000517295ITGB4chr17

73729773

+ENDOVchr17

78403573

+
Frame-shiftENST00000339591ENST00000520367ITGB4chr17

73729773

+ENDOVchr17

78403573

+
Frame-shiftENST00000339591ENST00000518137ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000339591ENST00000523999ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000339591ENST00000323854ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000339591ENST00000522751ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000339591ENST00000520284ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000339591ENST00000517795ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000339591ENST00000518907ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000339591ENST00000521847ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000339591ENST00000518644ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000339591ENST00000518901ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000339591ENST00000517295ITGB4chr17

73729773

+ENDOVchr17

78403573

+
Frame-shiftENST00000200181ENST00000520367ITGB4chr17

73729773

+ENDOVchr17

78403573

+
Frame-shiftENST00000200181ENST00000518137ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000200181ENST00000523999ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000200181ENST00000323854ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000200181ENST00000522751ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000200181ENST00000520284ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000200181ENST00000517795ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000200181ENST00000518907ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000200181ENST00000521847ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000200181ENST00000518644ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000200181ENST00000518901ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000200181ENST00000517295ITGB4chr17

73729773

+ENDOVchr17

78403573

+
Frame-shiftENST00000450894ENST00000520367ITGB4chr17

73729773

+ENDOVchr17

78403573

+
Frame-shiftENST00000450894ENST00000518137ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000450894ENST00000523999ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000450894ENST00000323854ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000450894ENST00000522751ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000450894ENST00000520284ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000450894ENST00000517795ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000450894ENST00000518907ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000450894ENST00000521847ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000450894ENST00000518644ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000450894ENST00000518901ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000450894ENST00000517295ITGB4chr17

73729773

+ENDOVchr17

78403573

+
Frame-shiftENST00000449880ENST00000520367ITGB4chr17

73729773

+ENDOVchr17

78403573

+
Frame-shiftENST00000449880ENST00000518137ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000449880ENST00000523999ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000449880ENST00000323854ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000449880ENST00000522751ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000449880ENST00000520284ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000449880ENST00000517795ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000449880ENST00000518907ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000449880ENST00000521847ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000449880ENST00000518644ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000449880ENST00000518901ITGB4chr17

73729773

+ENDOVchr17

78403573

+
5CDS-intronENST00000449880ENST00000517295ITGB4chr17

73729773

+ENDOVchr17

78403573

+
3UTR-3CDSENST00000584558ENST00000520367ITGB4chr17

73729773

+ENDOVchr17

78403573

+
3UTR-3CDSENST00000584558ENST00000518137ITGB4chr17

73729773

+ENDOVchr17

78403573

+
3UTR-intronENST00000584558ENST00000523999ITGB4chr17

73729773

+ENDOVchr17

78403573

+
3UTR-intronENST00000584558ENST00000323854ITGB4chr17

73729773

+ENDOVchr17

78403573

+
3UTR-intronENST00000584558ENST00000522751ITGB4chr17

73729773

+ENDOVchr17

78403573

+
3UTR-intronENST00000584558ENST00000520284ITGB4chr17

73729773

+ENDOVchr17

78403573

+
3UTR-intronENST00000584558ENST00000517795ITGB4chr17

73729773

+ENDOVchr17

78403573

+
3UTR-intronENST00000584558ENST00000518907ITGB4chr17

73729773

+ENDOVchr17

78403573

+
3UTR-intronENST00000584558ENST00000521847ITGB4chr17

73729773

+ENDOVchr17

78403573

+
3UTR-intronENST00000584558ENST00000518644ITGB4chr17

73729773

+ENDOVchr17

78403573

+
3UTR-intronENST00000584558ENST00000518901ITGB4chr17

73729773

+ENDOVchr17

78403573

+
3UTR-intronENST00000584558ENST00000517295ITGB4chr17

73729773

+ENDOVchr17

78403573

+

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FusionProtFeatures for ITGB4_ENDOV


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ITGB4

P16144

ENDOV

Q8N8Q3

Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3'to inosine. Has strong preference for single-stranded RNAs(ssRNAs) toward double-stranded RNAs (dsRNAs). Cleaves mRNAs andtRNAs containing inosine. Also able to cleave structure-specificdsRNA substrates containing the specific sites 5'-IIUI-3' and 5'-UIUU-3'. Inosine is present in a number of RNAs following editing;the function of inosine-specific endoribonuclease is stillunclear: it could either play a regulatory role in edited RNAs, orbe involved in antiviral response by removing the hyperedited longviral dsRNA genome that has undergone A-to-I editing. Bindsbranched DNA structures. {ECO:0000269|PubMed:23139746,ECO:0000269|PubMed:23912683, ECO:0000269|PubMed:23912718}.

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 ITGB4_ENDOV


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 ITGB4_ENDOV


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
ITGB4SHC1, EIF6, ERBB2IP, ALOX12, COL17A1, DST, SREBF2, ITGA3, ARRDC3, ATXN1, SMAD2, SMAD3, PLEC, JUP, HNRNPU, ATF2, ENPP2, LPAR1, SEL1L, ILK, HNRNPD, VCP, MYH13, TNRC6A, SGTB, GEMIN7, MYO19, KLC3, BAG6, PPP2R3C, SKI, EGFR, MUC5ACENDOVBBS2, VWA8, CCT2, ANKRD40, PDCL, SEPHS2, RNF31, TSC22D3, APAF1, NOP9


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


Top

RelatedDrugs for ITGB4_ENDOV


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 ITGB4_ENDOV


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneITGB4C1856934Epidermolysis bullosa with pyloric atresia9CTD_human;ORPHANET;UNIPROT
HgeneITGB4C0266159Pyloric Atresia2CTD_human
HgeneITGB4C0000786Spontaneous abortion1CTD_human
HgeneITGB4C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneITGB4C0013575Ectodermal Dysplasia1CTD_human
HgeneITGB4C0014527Epidermolysis Bullosa1CTD_human
HgeneITGB4C0017639Gliosis1CTD_human
HgeneITGB4C0036095Salivary Gland Neoplasms1CTD_human
HgeneITGB4C0079301Junctional Epidermolysis Bullosa1CTD_human
HgeneITGB4C0268374Adult junctional epidermolysis bullosa (disorder)1CTD_human;ORPHANET;UNIPROT