Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ITGB4-ILVBL (FusionGDB2 ID:HG3691TG10994)

Fusion Gene Summary for ITGB4-ILVBL

check button Fusion gene summary
Fusion gene informationFusion gene name: ITGB4-ILVBL
Fusion gene ID: hg3691tg10994
HgeneTgene
Gene symbol

ITGB4

ILVBL

Gene ID

3691

10994

Gene nameintegrin subunit beta 4ilvB acetolactate synthase like
SynonymsCD104|GP150209L8|AHAS|HACL1L|ILV2H
Cytomap('ITGB4')('ILVBL')

17q25.1

19p13.12

Type of geneprotein-codingprotein-coding
Descriptionintegrin beta-4CD104 antigenacetolactate synthase-like protein2-hydroxyacyl-CoA lyase 1 likeacetolactate synthase homologilvB (bacterial acetolactate synthase)-likeilvB-like protein
Modification date2020032920200327
UniProtAcc

P16144

.
Ensembl transtripts involved in fusion geneENST00000584558, ENST00000200181, 
ENST00000339591, ENST00000449880, 
ENST00000450894, ENST00000579662, 
Fusion gene scores* DoF score23 X 19 X 10=43705 X 4 X 4=80
# samples 295
** MAII scorelog2(29/4370*10)=-3.91350847437303
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointITGB4(73720862)-ILVBL(15230892), # samples:1
Anticipated loss of major functional domain due to fusion event.ITGB4-ILVBL seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ITGB4-ILVBL seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ITGB4-ILVBL seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4Non-CancerTCGA-BR-6564-11AITGB4chr17

73720862

+ILVBLchr19

15230892

-


Top

Fusion Gene ORF analysis for ITGB4-ILVBL

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
3UTR-3CDSENST00000584558ENST00000263383ITGB4chr17

73720862

+ILVBLchr19

15230892

-
3UTR-3CDSENST00000584558ENST00000534378ITGB4chr17

73720862

+ILVBLchr19

15230892

-
3UTR-5UTRENST00000584558ENST00000531635ITGB4chr17

73720862

+ILVBLchr19

15230892

-
5CDS-5UTRENST00000200181ENST00000531635ITGB4chr17

73720862

+ILVBLchr19

15230892

-
5CDS-5UTRENST00000339591ENST00000531635ITGB4chr17

73720862

+ILVBLchr19

15230892

-
5CDS-5UTRENST00000449880ENST00000531635ITGB4chr17

73720862

+ILVBLchr19

15230892

-
5CDS-5UTRENST00000450894ENST00000531635ITGB4chr17

73720862

+ILVBLchr19

15230892

-
5CDS-5UTRENST00000579662ENST00000531635ITGB4chr17

73720862

+ILVBLchr19

15230892

-
Frame-shiftENST00000200181ENST00000263383ITGB4chr17

73720862

+ILVBLchr19

15230892

-
Frame-shiftENST00000200181ENST00000534378ITGB4chr17

73720862

+ILVBLchr19

15230892

-
Frame-shiftENST00000339591ENST00000263383ITGB4chr17

73720862

+ILVBLchr19

15230892

-
Frame-shiftENST00000339591ENST00000534378ITGB4chr17

73720862

+ILVBLchr19

15230892

-
Frame-shiftENST00000449880ENST00000263383ITGB4chr17

73720862

+ILVBLchr19

15230892

-
Frame-shiftENST00000449880ENST00000534378ITGB4chr17

73720862

+ILVBLchr19

15230892

-
Frame-shiftENST00000450894ENST00000263383ITGB4chr17

73720862

+ILVBLchr19

15230892

-
Frame-shiftENST00000450894ENST00000534378ITGB4chr17

73720862

+ILVBLchr19

15230892

-
Frame-shiftENST00000579662ENST00000263383ITGB4chr17

73720862

+ILVBLchr19

15230892

-
Frame-shiftENST00000579662ENST00000534378ITGB4chr17

73720862

+ILVBLchr19

15230892

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for ITGB4-ILVBL


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


Top

Fusion Protein Features for ITGB4-ILVBL


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:73720862/:15230892)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

P16144

.
FUNCTION: Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). {ECO:0000269|PubMed:12482924, ECO:0000269|PubMed:19403692, ECO:0000269|PubMed:20682778, ECO:0000269|PubMed:22351760, ECO:0000269|PubMed:28873464}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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


Top

Fusion Gene Sequence for ITGB4-ILVBL


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

Top

Fusion Gene PPI Analysis for ITGB4-ILVBL


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


Top

Related Drugs for ITGB4-ILVBL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for ITGB4-ILVBL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneITGB4C1856934Epidermolysis bullosa with pyloric atresia11CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneITGB4C0266159Pyloric Atresia2CTD_human
HgeneITGB4C0268374Adult junctional epidermolysis bullosa (disorder)2CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneITGB4C0282160Aplasia Cutis Congenita2CTD_human;ORPHANET
HgeneITGB4C0000786Spontaneous abortion1CTD_human
HgeneITGB4C0000822Abortion, Tubal1CTD_human
HgeneITGB4C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneITGB4C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneITGB4C0013575Ectodermal Dysplasia1CTD_human
HgeneITGB4C0014527Epidermolysis Bullosa1CTD_human
HgeneITGB4C0017639Gliosis1CTD_human
HgeneITGB4C0036095Salivary Gland Neoplasms1CTD_human
HgeneITGB4C0079297Epidermolysis Bullosa Progressiva1CTD_human
HgeneITGB4C0079301Junctional Epidermolysis Bullosa1CTD_human
HgeneITGB4C0079683Herlitz Disease1CTD_human
HgeneITGB4C0162361Hidrotic Ectodermal Dysplasia1CTD_human
HgeneITGB4C0220636Malignant neoplasm of salivary gland1CTD_human
HgeneITGB4C1706004Anhydrotic Ectodermal Dysplasias1CTD_human
HgeneITGB4C3830362Early Pregnancy Loss1CTD_human
HgeneITGB4C3887640Astrocytosis1CTD_human
HgeneITGB4C4552766Miscarriage1CTD_human