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Fusion gene ID: 7956 |
FusionGeneSummary for COL4A2_CCT5 |
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Fusion gene information | Fusion gene name: COL4A2_CCT5 | Fusion gene ID: 7956 | Hgene | Tgene | Gene symbol | COL4A2 | CCT5 | Gene ID | 1284 | 22948 |
Gene name | collagen type IV alpha 2 chain | chaperonin containing TCP1 subunit 5 | |
Synonyms | ICH|POREN2 | CCT-epsilon|CCTE|HEL-S-69|PNAS-102|TCP-1-epsilon | |
Cytomap | 13q34 | 5p15.2 | |
Type of gene | protein-coding | protein-coding | |
Description | collagen alpha-2(IV) chaincanstatin | T-complex protein 1 subunit epsilonchaperonin containing TCP1, subunit 5 (epsilon)epididymis secretory protein Li 69 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P08572 | P48643 | |
Ensembl transtripts involved in fusion gene | ENST00000360467, ENST00000462309, | ENST00000280326, ENST00000503026, ENST00000515390, ENST00000515676, ENST00000506600, | |
Fusion gene scores | * DoF score | 8 X 5 X 7=280 | 49 X 6 X 16=4704 |
# samples | 9 | 53 | |
** MAII score | log2(9/280*10)=-1.63742992061529 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(53/4704*10)=-3.1498237953858 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: COL4A2 [Title/Abstract] AND CCT5 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | COL4A2 | GO:0016525 | negative regulation of angiogenesis | 10625665 |
![]() (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 | RV | READ | TCGA-DY-A1DD-01A | COL4A2 | chr13 | 111165374 | + | CCT5 | chr5 | 10250033 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
Frame-shift | ENST00000360467 | ENST00000280326 | COL4A2 | chr13 | 111165374 | + | CCT5 | chr5 | 10250033 | + |
5CDS-intron | ENST00000360467 | ENST00000503026 | COL4A2 | chr13 | 111165374 | + | CCT5 | chr5 | 10250033 | + |
5CDS-intron | ENST00000360467 | ENST00000515390 | COL4A2 | chr13 | 111165374 | + | CCT5 | chr5 | 10250033 | + |
5CDS-intron | ENST00000360467 | ENST00000515676 | COL4A2 | chr13 | 111165374 | + | CCT5 | chr5 | 10250033 | + |
5CDS-intron | ENST00000360467 | ENST00000506600 | COL4A2 | chr13 | 111165374 | + | CCT5 | chr5 | 10250033 | + |
intron-3CDS | ENST00000462309 | ENST00000280326 | COL4A2 | chr13 | 111165374 | + | CCT5 | chr5 | 10250033 | + |
intron-intron | ENST00000462309 | ENST00000503026 | COL4A2 | chr13 | 111165374 | + | CCT5 | chr5 | 10250033 | + |
intron-intron | ENST00000462309 | ENST00000515390 | COL4A2 | chr13 | 111165374 | + | CCT5 | chr5 | 10250033 | + |
intron-intron | ENST00000462309 | ENST00000515676 | COL4A2 | chr13 | 111165374 | + | CCT5 | chr5 | 10250033 | + |
intron-intron | ENST00000462309 | ENST00000506600 | COL4A2 | chr13 | 111165374 | + | CCT5 | chr5 | 10250033 | + |
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FusionProtFeatures for COL4A2_CCT5 |
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Hgene | Tgene |
COL4A2 | CCT5 |
Type IV collagen is the major structural component ofglomerular basement membranes (GBM), forming a 'chicken-wire'meshwork together with laminins, proteoglycans andentactin/nidogen. Canstatin, a cleavage product corresponding to thecollagen alpha 2(IV) NC1 domain, possesses both anti-angiogenicand anti-tumor cell activity. It inhibits proliferation andmigration of endothelial cells, reduces mitochondrial membranepotential, and induces apoptosis. Specifically induces Fas-dependent apoptosis and activates procaspase-8 and -9 activity.Ligand for alphavbeta3 and alphavbeta5 integrins. | Molecular chaperone; assists the folding of proteinsupon ATP hydrolysis. As part of the BBS/CCT complex may play arole in the assembly of BBSome, a complex involved in ciliogenesisregulating transports vesicles to the cilia. Known to play a role,in vitro, in the folding of actin and tubulin.{ECO:0000269|PubMed:20080638}. |
![]() * 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 COL4A2_CCT5 |
![]() (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 COL4A2_CCT5 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
COL4A2 | COL4A2, COL4A1, CSNK2B, DAZAP2, TK1, SMN1, ANXA7, VHL, SKIL, FAM46A, FBXO6, C1QB, C1QTNF2, CELA2B, FGL1, ITLN2, COL9A1, C1QTNF9, STBD1, SERPINA6, TMEM25, SEMG1, PTPRK, COL8A2, CLPSL1, TNPO3, PLOD1, COLGALT2, MMP9, MMP2, FKBP9, LYG2, COL10A1, COLQ, CRP, MSR1, IFNA21 | CCT5 | XRN1, THEG, SSSCA1, HDAC3, ACTB, TBC1D17, IKBKAP, IMMT, TP53, PPP4C, CTTNBP2, MOB4, PPP2CA, STK24, STRN, STRN3, TRAF3IP3, PPP2CB, PPP2R2C, IGBP1, TCP1, ACTA2, ACTA1, GPN1, HNRNPH1, RPAP2, RPAP3, CDK9, RFWD2, SRRM2, SRRM1, WDR82, H2AFX, UBC, MYC, PPP2R2A, PPP2R2B, PPP2R2D, PPP2R4, AGO4, HDAC5, PCK1, VHL, SIRT7, FBXO25, CUL3, CUL4A, CDK2, GNB5, GNB1, RGS7, PDCL, GRB2, PACRG, CCT2, CCT3, CCT8, CCT6A, CCT4, CCT7, CCT6B, AHCYL1, IARS, TARS, PSMA6, PSMB1, VCP, SSR1, XPO1, SLU7, TXNL1, SRSF2, ATXN2, TRIM28, FN1, VCAM1, ATF2, PEX14, NOS2, FAM86B2, METTL21B, ITGA4, PAN2, HDAC6, FBXW4, TERT, FBXO6, CDK5, ILK, CDC20, LGALS3BP, NEDD1, TUBG1, HUWE1, FUS, CUL7, OBSL1, RNF2, SIRT6, IKBKE, IRAK1, SGK2, TSSK6, TYK2, WDR76, POC1A, PEX7, RPS6KB2, DCAF7, UNK, ACTR2, AHNAK, HSPE1, PIN4, STUB1, NTRK1, BTRC, B9D1, MKS1, CETN2, CDK1, DDB2, HDAC1, PDK3, NSMAF, NIPSNAP1, PRPF4, BUB3, WRAP53, RFWD3, KIF21A, SEH1L, KBTBD7, TUBA1C, ARMC6, GAN, CRY2, ALKBH3, MCM2, SNW1, CDC5L, TTC27, NLE1, CDC73, CRBN, PPM1J, KLHDC8A, DNAI2, HCFC2, WDR77, DCAF11, KDM4B, KLHL33, KLHDC2, TXNDC9, WDR86, TBL1Y, DCAF8, THOC3, WDTC1, GANAB, ODF1, DCAF5, SEC31B, TSSC1, WDR83, CYLD, WDR92, TRIM25, MCPH1, HEY1, BRCA1, YAP1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for COL4A2_CCT5 |
![]() (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 COL4A2_CCT5 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | COL4A2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | COL4A2 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
Hgene | COL4A2 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
Hgene | COL4A2 | C3280970 | PORENCEPHALY 2 | 1 | UNIPROT |
Tgene | CCT5 | C0019693 | HIV Infections | 1 | CTD_human |
Tgene | CCT5 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | CCT5 | C1850395 | Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive | 1 | CTD_human;ORPHANET;UNIPROT |