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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: 7956

FusionGeneSummary for COL4A2_CCT5

check button Fusion gene summary
Fusion gene informationFusion gene name: COL4A2_CCT5
Fusion gene ID: 7956
HgeneTgene
Gene symbol

COL4A2

CCT5

Gene ID

1284

22948

Gene namecollagen type IV alpha 2 chainchaperonin containing TCP1 subunit 5
SynonymsICH|POREN2CCT-epsilon|CCTE|HEL-S-69|PNAS-102|TCP-1-epsilon
Cytomap

13q34

5p15.2

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-2(IV) chaincanstatinT-complex protein 1 subunit epsilonchaperonin containing TCP1, subunit 5 (epsilon)epididymis secretory protein Li 69
Modification date2018052320180523
UniProtAcc

P08572

P48643

Ensembl transtripts involved in fusion geneENST00000360467, ENST00000462309, 
ENST00000280326, ENST00000503026, 
ENST00000515390, ENST00000515676, 
ENST00000506600, 
Fusion gene scores* DoF score8 X 5 X 7=28049 X 6 X 16=4704
# samples 953
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCOL4A2

GO:0016525

negative regulation of angiogenesis

10625665


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
TCGARVREADTCGA-DY-A1DD-01ACOL4A2chr13

111165374

+CCT5chr5

10250033

+
* 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-shiftENST00000360467ENST00000280326COL4A2chr13

111165374

+CCT5chr5

10250033

+
5CDS-intronENST00000360467ENST00000503026COL4A2chr13

111165374

+CCT5chr5

10250033

+
5CDS-intronENST00000360467ENST00000515390COL4A2chr13

111165374

+CCT5chr5

10250033

+
5CDS-intronENST00000360467ENST00000515676COL4A2chr13

111165374

+CCT5chr5

10250033

+
5CDS-intronENST00000360467ENST00000506600COL4A2chr13

111165374

+CCT5chr5

10250033

+
intron-3CDSENST00000462309ENST00000280326COL4A2chr13

111165374

+CCT5chr5

10250033

+
intron-intronENST00000462309ENST00000503026COL4A2chr13

111165374

+CCT5chr5

10250033

+
intron-intronENST00000462309ENST00000515390COL4A2chr13

111165374

+CCT5chr5

10250033

+
intron-intronENST00000462309ENST00000515676COL4A2chr13

111165374

+CCT5chr5

10250033

+
intron-intronENST00000462309ENST00000506600COL4A2chr13

111165374

+CCT5chr5

10250033

+

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FusionProtFeatures for COL4A2_CCT5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COL4A2

P08572

CCT5

P48643

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}.

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 COL4A2_CCT5


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 COL4A2_CCT5


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
COL4A2COL4A2, 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, IFNA21CCT5XRN1, 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


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 COL4A2_CCT5


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 COL4A2_CCT5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL4A2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCOL4A2C0027726Nephrotic Syndrome1CTD_human
HgeneCOL4A2C0149925Small cell carcinoma of lung1CTD_human
HgeneCOL4A2C3280970PORENCEPHALY 21UNIPROT
TgeneCCT5C0019693HIV Infections1CTD_human
TgeneCCT5C1458155Mammary Neoplasms1CTD_human
TgeneCCT5C1850395Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive1CTD_human;ORPHANET;UNIPROT