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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: 17876

FusionGeneSummary for ITGB4_SAP30BP

check button Fusion gene summary
Fusion gene informationFusion gene name: ITGB4_SAP30BP
Fusion gene ID: 17876
HgeneTgene
Gene symbol

ITGB4

SAP30BP

Gene ID

3691

29115

Gene nameintegrin subunit beta 4SAP30 binding protein
SynonymsCD104|GP150HCNGP|HTRG|HTRP
Cytomap

17q25.1

17q25.1

Type of geneprotein-codingprotein-coding
Descriptionintegrin beta-4CD104 antigenSAP30-binding proteinHSV-1 bindingtranscriptional regulator protein HCNGP
Modification date2018052720180523
UniProtAcc

P16144

Q9UHR5

Ensembl transtripts involved in fusion geneENST00000579662, ENST00000339591, 
ENST00000200181, ENST00000450894, 
ENST00000449880, ENST00000584558, 
ENST00000584667, ENST00000355423, 
ENST00000579864, 
Fusion gene scores* DoF score15 X 12 X 8=14409 X 9 X 5=405
# samples 1612
** MAII scorelog2(16/1440*10)=-3.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/405*10)=-1.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ITGB4 [Title/Abstract] AND SAP30BP [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
HgeneITGB4

GO:0009611

response to wounding

19403692

HgeneITGB4

GO:0031581

hemidesmosome assembly

12482924

TgeneSAP30BP

GO:0010942

positive regulation of cell death

15496587


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
TCGARVLUADTCGA-97-A4M3-01AITGB4chr17

73733725

+SAP30BPchr17

73689520

+
* 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
In-frameENST00000579662ENST00000584667ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
In-frameENST00000579662ENST00000355423ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
5CDS-3UTRENST00000579662ENST00000579864ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
In-frameENST00000339591ENST00000584667ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
In-frameENST00000339591ENST00000355423ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
5CDS-3UTRENST00000339591ENST00000579864ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
In-frameENST00000200181ENST00000584667ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
In-frameENST00000200181ENST00000355423ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
5CDS-3UTRENST00000200181ENST00000579864ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
In-frameENST00000450894ENST00000584667ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
In-frameENST00000450894ENST00000355423ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
5CDS-3UTRENST00000450894ENST00000579864ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
In-frameENST00000449880ENST00000584667ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
In-frameENST00000449880ENST00000355423ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
5CDS-3UTRENST00000449880ENST00000579864ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
3UTR-3CDSENST00000584558ENST00000584667ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
3UTR-3CDSENST00000584558ENST00000355423ITGB4chr17

73733725

+SAP30BPchr17

73689520

+
3UTR-3UTRENST00000584558ENST00000579864ITGB4chr17

73733725

+SAP30BPchr17

73689520

+

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FusionProtFeatures for ITGB4_SAP30BP


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

P16144

SAP30BP

Q9UHR5

Induces cell death. May act as a transcriptionalcorepressor of a gene related to cell survival. May be involved inthe regulation of beta-2-microglobulin genes.{ECO:0000250|UniProtKB:Q02614, ECO:0000269|PubMed:15496587}.

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
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+1840131_3297401823DomainNote=VWFA
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+184029_737401823DomainNote=PSI
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+1840131_3297401806DomainNote=VWFA
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+184029_737401806DomainNote=PSI
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+1739131_3297401806DomainNote=VWFA
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+173929_737401806DomainNote=PSI
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+1839131_3297401753DomainNote=VWFA
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+183929_737401753DomainNote=PSI
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+1839131_3297401753DomainNote=VWFA
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+183929_737401753DomainNote=PSI
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+1840194_1997401823RegionInvolved in NRG1- and IGF1-binding
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+1840456_6197401823RegionNote=Cysteine-rich tandem repeats
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+1840194_1997401806RegionInvolved in NRG1- and IGF1-binding
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+1840456_6197401806RegionNote=Cysteine-rich tandem repeats
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+1739194_1997401806RegionInvolved in NRG1- and IGF1-binding
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+1739456_6197401806RegionNote=Cysteine-rich tandem repeats
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+1839194_1997401753RegionInvolved in NRG1- and IGF1-binding
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+1839456_6197401753RegionNote=Cysteine-rich tandem repeats
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+1839194_1997401753RegionInvolved in NRG1- and IGF1-binding
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+1839456_6197401753RegionNote=Cysteine-rich tandem repeats
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+1840456_5027401823RepeatNote=I
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+1840503_5427401823RepeatNote=II
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+1840543_5817401823RepeatNote=III
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+1840582_6197401823RepeatNote=IV
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+1840456_5027401806RepeatNote=I
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+1840503_5427401806RepeatNote=II
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+1840543_5817401806RepeatNote=III
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+1840582_6197401806RepeatNote=IV
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+1739456_5027401806RepeatNote=I
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+1739503_5427401806RepeatNote=II
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+1739543_5817401806RepeatNote=III
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+1739582_6197401806RepeatNote=IV
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+1839456_5027401753RepeatNote=I
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+1839503_5427401753RepeatNote=II
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+1839543_5817401753RepeatNote=III
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+1839582_6197401753RepeatNote=IV
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+1839456_5027401753RepeatNote=I
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+1839503_5427401753RepeatNote=II
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+1839543_5817401753RepeatNote=III
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+1839582_6197401753RepeatNote=IV
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+184028_7107401823Topological domainExtracellular
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+184028_7107401806Topological domainExtracellular
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+173928_7107401806Topological domainExtracellular
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+183928_7107401753Topological domainExtracellular
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+183928_7107401753Topological domainExtracellular
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+1840711_7337401823TransmembraneHelical
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+1840711_7337401806TransmembraneHelical
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+1739711_7337401806TransmembraneHelical
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+1839711_7337401753TransmembraneHelical
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+1839711_7337401753TransmembraneHelical
TgeneSAP30BPchr17:73733725chr17:73689520ENST00000355423+110225_29472293Compositional biasThr-rich
TgeneSAP30BPchr17:73733725chr17:73689520ENST00000584667+211225_29488309Compositional biasThr-rich

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+18401129_12187401823DomainFibronectin type-III 1
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+18401222_13217401823DomainFibronectin type-III 2
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+18401530_16257401823DomainFibronectin type-III 3
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+18401643_17397401823DomainFibronectin type-III 4
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+1840979_10847401823DomainNote=Calx-beta
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+18401129_12187401806DomainFibronectin type-III 1
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+18401222_13217401806DomainFibronectin type-III 2
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+18401530_16257401806DomainFibronectin type-III 3
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+18401643_17397401806DomainFibronectin type-III 4
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+1840979_10847401806DomainNote=Calx-beta
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+17391129_12187401806DomainFibronectin type-III 1
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+17391222_13217401806DomainFibronectin type-III 2
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+17391530_16257401806DomainFibronectin type-III 3
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+17391643_17397401806DomainFibronectin type-III 4
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+1739979_10847401806DomainNote=Calx-beta
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+18391129_12187401753DomainFibronectin type-III 1
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+18391222_13217401753DomainFibronectin type-III 2
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+18391530_16257401753DomainFibronectin type-III 3
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+18391643_17397401753DomainFibronectin type-III 4
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+1839979_10847401753DomainNote=Calx-beta
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+18391129_12187401753DomainFibronectin type-III 1
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+18391222_13217401753DomainFibronectin type-III 2
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+18391530_16257401753DomainFibronectin type-III 3
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+18391643_17397401753DomainFibronectin type-III 4
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+1839979_10847401753DomainNote=Calx-beta
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+1840732_7497401823RegionNote=Palmitoylated on several cysteines
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+1840732_7497401806RegionNote=Palmitoylated on several cysteines
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+1739732_7497401806RegionNote=Palmitoylated on several cysteines
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+1839732_7497401753RegionNote=Palmitoylated on several cysteines
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+1839732_7497401753RegionNote=Palmitoylated on several cysteines
HgeneITGB4chr17:73733725chr17:73689520ENST00000200181+1840734_18227401823Topological domainCytoplasmic
HgeneITGB4chr17:73733725chr17:73689520ENST00000339591+1840734_18227401806Topological domainCytoplasmic
HgeneITGB4chr17:73733725chr17:73689520ENST00000449880+1739734_18227401806Topological domainCytoplasmic
HgeneITGB4chr17:73733725chr17:73689520ENST00000450894+1839734_18227401753Topological domainCytoplasmic
HgeneITGB4chr17:73733725chr17:73689520ENST00000579662+1839734_18227401753Topological domainCytoplasmic


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FusionGeneSequence for ITGB4_SAP30BP


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_SAP30BP


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, MUC5ACSAP30BPPUF60, MEPCE, TERF1, TERF2, GSK3B, RPS6KA6, SF3A2, SNCA, EWSR1, TAF15, DYNC1H1, DDX1, HSPD1, FLNC, DCTN1, FUS, DDB1, FHL2, MLX, ZNF212, ZNF408, RBM17, U2AF2, RBM39, DHX8, THOC1, WDR83, FRA10AC1, WDR77, CSNK2A1, LMNA, CSNK2A2, HUWE1, FHL3, GOLGA2, TFIP11, THAP1, SHMT2, MOV10, NXF1, CDK11A, NTRK1, TRIM25, TXNIP


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 ITGB4_SAP30BP


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_SAP30BP


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
TgeneSAP30BPC0036341Schizophrenia1CTD_human