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Fusion gene ID: 17857 |
FusionGeneSummary for ITGB1BP1_COL5A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ITGB1BP1_COL5A1 | Fusion gene ID: 17857 | Hgene | Tgene | Gene symbol | ITGB1BP1 | COL5A1 | Gene ID | 9270 | 1289 |
| Gene name | integrin subunit beta 1 binding protein 1 | collagen type V alpha 1 chain | |
| Synonyms | ICAP-1A|ICAP-1B|ICAP-1alpha|ICAP1|ICAP1A|ICAP1B | EDSC|EDSCL1 | |
| Cytomap | 2p25.1 | 9q34.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | integrin beta-1-binding protein 1bodeninintegrin cytoplasmic domain-associated protein 1integrin cytoplasmic domain-associated protein 1-alphaintegrin cytoplasmic domain-associated protein 1-beta | collagen alpha-1(V) chaincollagen, type V, alpha 1 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | O14713 | P20908 | |
| Ensembl transtripts involved in fusion gene | ENST00000360635, ENST00000238091, ENST00000355346, ENST00000490426, ENST00000359712, ENST00000488451, ENST00000456913, | ENST00000371817, ENST00000464187, | |
| Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 10 X 9 X 7=630 |
| # samples | 2 | 11 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(11/630*10)=-2.51784830486262 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ITGB1BP1 [Title/Abstract] AND COL5A1 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | ITGB1BP1 | GO:0002043 | blood vessel endothelial cell proliferation involved in sprouting angiogenesis | 20616313 |
| Hgene | ITGB1BP1 | GO:0006469 | negative regulation of protein kinase activity | 20616313 |
| Hgene | ITGB1BP1 | GO:0007160 | cell-matrix adhesion | 9281591 |
| Hgene | ITGB1BP1 | GO:0007229 | integrin-mediated signaling pathway | 11919189|15703214 |
| Hgene | ITGB1BP1 | GO:0008284 | positive regulation of cell proliferation | 15703214 |
| Hgene | ITGB1BP1 | GO:0008285 | negative regulation of cell proliferation | 20616313 |
| Hgene | ITGB1BP1 | GO:0010595 | positive regulation of endothelial cell migration | 20616313 |
| Hgene | ITGB1BP1 | GO:0015031 | protein transport | 17916086 |
| Hgene | ITGB1BP1 | GO:0032091 | negative regulation of protein binding | 12473654 |
| Hgene | ITGB1BP1 | GO:0032148 | activation of protein kinase B activity | 20616313 |
| Hgene | ITGB1BP1 | GO:0035148 | tube formation | 20616313 |
| Hgene | ITGB1BP1 | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 20616313 |
| Hgene | ITGB1BP1 | GO:0043087 | regulation of GTPase activity | 11807099 |
| Hgene | ITGB1BP1 | GO:0044344 | cellular response to fibroblast growth factor stimulus | 20616313 |
| Hgene | ITGB1BP1 | GO:0045747 | positive regulation of Notch signaling pathway | 20616313 |
| Hgene | ITGB1BP1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15703214|20616313 |
| Hgene | ITGB1BP1 | GO:0050880 | regulation of blood vessel size | 20616313 |
| Hgene | ITGB1BP1 | GO:0051895 | negative regulation of focal adhesion assembly | 12473654 |
| Hgene | ITGB1BP1 | GO:0051897 | positive regulation of protein kinase B signaling | 20616313 |
| Hgene | ITGB1BP1 | GO:0070373 | negative regulation of ERK1 and ERK2 cascade | 20616313 |
| Hgene | ITGB1BP1 | GO:0090051 | negative regulation of cell migration involved in sprouting angiogenesis | 20616313 |
| Hgene | ITGB1BP1 | GO:0090315 | negative regulation of protein targeting to membrane | 11807099 |
| Hgene | ITGB1BP1 | GO:1900025 | negative regulation of substrate adhesion-dependent cell spreading | 11807099 |
| Tgene | COL5A1 | GO:1903225 | negative regulation of endodermal cell differentiation | 23154389 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | LUSC | TCGA-66-2789-01A | ITGB1BP1 | chr2 | 9563502 | - | COL5A1 | chr9 | 137658846 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3CDS | ENST00000360635 | ENST00000371817 | ITGB1BP1 | chr2 | 9563502 | - | COL5A1 | chr9 | 137658846 | + |
| intron-intron | ENST00000360635 | ENST00000464187 | ITGB1BP1 | chr2 | 9563502 | - | COL5A1 | chr9 | 137658846 | + |
| 5UTR-3CDS | ENST00000238091 | ENST00000371817 | ITGB1BP1 | chr2 | 9563502 | - | COL5A1 | chr9 | 137658846 | + |
| 5UTR-intron | ENST00000238091 | ENST00000464187 | ITGB1BP1 | chr2 | 9563502 | - | COL5A1 | chr9 | 137658846 | + |
| 5UTR-3CDS | ENST00000355346 | ENST00000371817 | ITGB1BP1 | chr2 | 9563502 | - | COL5A1 | chr9 | 137658846 | + |
| 5UTR-intron | ENST00000355346 | ENST00000464187 | ITGB1BP1 | chr2 | 9563502 | - | COL5A1 | chr9 | 137658846 | + |
| 5UTR-3CDS | ENST00000490426 | ENST00000371817 | ITGB1BP1 | chr2 | 9563502 | - | COL5A1 | chr9 | 137658846 | + |
| 5UTR-intron | ENST00000490426 | ENST00000464187 | ITGB1BP1 | chr2 | 9563502 | - | COL5A1 | chr9 | 137658846 | + |
| intron-3CDS | ENST00000359712 | ENST00000371817 | ITGB1BP1 | chr2 | 9563502 | - | COL5A1 | chr9 | 137658846 | + |
| intron-intron | ENST00000359712 | ENST00000464187 | ITGB1BP1 | chr2 | 9563502 | - | COL5A1 | chr9 | 137658846 | + |
| 5UTR-3CDS | ENST00000488451 | ENST00000371817 | ITGB1BP1 | chr2 | 9563502 | - | COL5A1 | chr9 | 137658846 | + |
| 5UTR-intron | ENST00000488451 | ENST00000464187 | ITGB1BP1 | chr2 | 9563502 | - | COL5A1 | chr9 | 137658846 | + |
| 5UTR-3CDS | ENST00000456913 | ENST00000371817 | ITGB1BP1 | chr2 | 9563502 | - | COL5A1 | chr9 | 137658846 | + |
| 5UTR-intron | ENST00000456913 | ENST00000464187 | ITGB1BP1 | chr2 | 9563502 | - | COL5A1 | chr9 | 137658846 | + |
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FusionProtFeatures for ITGB1BP1_COL5A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ITGB1BP1 | COL5A1 |
| Key regulator of the integrin-mediated cell-matrixinteraction signaling by binding to the ITGB1 cytoplasmic tail andpreventing the activation of integrin alpha-5/beta-1 (heterodimerof ITGA5 and ITGB1) by talin or FERMT1. Plays a role in cellproliferation, differentiation, spreading, adhesion and migrationin the context of mineralization and bone development andangiogenesis. Stimulates cellular proliferation in a fibronectin-dependent manner. Involved in the regulation of beta-1 integrin-containing focal adhesion (FA) site dynamics by controlling itsassembly rate during cell adhesion; inhibits beta-1 integrinclustering within FA by directly competing with talin TLN1, andhence stimulates osteoblast spreading and migration in afibronectin-and/or collagen-dependent manner. Acts as a guaninenucleotide dissociation inhibitor (GDI) by regulating Rho familyGTPases during integrin-mediated cell matrix adhesion; reduces thelevel of active GTP-bound form of both CDC42 and RAC1 GTPases uponcell adhesion to fibronectin. Stimulates the release of activeCDC42 from the membranes to maintain it in an inactive cytoplasmicpool. Participates in the translocation of the Rho-associatedprotein kinase ROCK1 to membrane ruffles at cell leading edges ofthe cell membrane, leading to an increase of myoblast cellmigration on laminin. Plays a role in bone mineralization at alate stage of osteoblast differentiation; modulates the dynamicformation of focal adhesions into fibrillar adhesions, which areadhesive structures responsible for fibronectin deposition andfibrillogenesis. Plays a role in blood vessel development; acts asa negative regulator of angiogenesis by attenuating endothelialcell proliferation and migration, lumen formation and sproutingangiogenesis by promoting AKT phosphorylation and inhibitingERK1/2 phosphorylation through activation of the Notch signalingpathway. Promotes transcriptional activity of the MYC promoter.{ECO:0000269|PubMed:11741838, ECO:0000269|PubMed:11807099,ECO:0000269|PubMed:11919189, ECO:0000269|PubMed:12473654,ECO:0000269|PubMed:15703214, ECO:0000269|PubMed:17916086,ECO:0000269|PubMed:20616313, ECO:0000269|PubMed:21768292,ECO:0000269|Ref.19}. | Type V collagen is a member of group I collagen(fibrillar forming collagen). It is a minor connective tissuecomponent of nearly ubiquitous distribution. Type V collagen bindsto DNA, heparan sulfate, thrombospondin, heparin, and insulin. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for ITGB1BP1_COL5A1 |
| 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 ITGB1BP1_COL5A1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| ITGB1BP1 | ITGB1, LRP2, LRP1, LRP8, KRIT1, TANK, EEF1A1, FAF1, APP, FIGNL1, PGRMC1, XPO1, SMURF2, SMURF1, CCM2, TRIM25 | COL5A1 | SPARC, THBS1, MAG, SIRT7, PDGFA, PDGFB, C1QTNF2, PTPN2, COL8A2, CSNK2A2, PTPN1, TGM2, PLOD1, MMP9, MMP2, PRSS23, TRIM25 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ITGB1BP1_COL5A1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ITGB1BP1_COL5A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ITGB1BP1 | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
| Hgene | ITGB1BP1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | COL5A1 | C4225429 | Ehlers-Danlos syndrome classic type | 4 | UNIPROT |
| Tgene | COL5A1 | C0268335 | Ehlers-Danlos syndrome type 1 | 3 | CTD_human;ORPHANET |
| Tgene | COL5A1 | C0268336 | Ehlers-Danlos syndrome type 2 | 2 | CTD_human;ORPHANET |
| Tgene | COL5A1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Tgene | COL5A1 | C0022548 | Keloid | 1 | CTD_human |
| Tgene | COL5A1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | COL5A1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| Tgene | COL5A1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
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