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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: 7875

FusionGeneSummary for COL1A1_HSP90AB1

check button Fusion gene summary
Fusion gene informationFusion gene name: COL1A1_HSP90AB1
Fusion gene ID: 7875
HgeneTgene
Gene symbol

COL1A1

HSP90AB1

Gene ID

1277

3326

Gene namecollagen type I alpha 1 chainheat shock protein 90 alpha family class B member 1
SynonymsEDSARTH1|EDSC|OI1|OI2|OI3|OI4D6S182|HSP84|HSP90B|HSPC2|HSPCB
Cytomap

17q21.33

6p21.1

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(I) chainalpha-1 type I collagenalpha1(I) procollagencollagen alpha 1 chain type Icollagen alpha-1(I) chain preproproteincollagen of skin, tendon and bone, alpha-1 chaincollagen, type I, alpha 1pro-alpha-1 collagen type 1type I proheat shock protein HSP 90-betaHSP90-betaheat shock 84 kDaheat shock 90kD protein 1, betaheat shock protein 90 kDaheat shock protein 90kDa alpha (cytosolic), class B member 1heat shock protein 90kDa alpha family class B member 1
Modification date2018052720180522
UniProtAcc

P02452

P08238

Ensembl transtripts involved in fusion geneENST00000225964, ENST00000353801, 
ENST00000371646, ENST00000371554, 
Fusion gene scores* DoF score28 X 47 X 4=52648 X 7 X 5=280
# samples 528
** MAII scorelog2(52/5264*10)=-3.33957596070679
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COL1A1 [Title/Abstract] AND HSP90AB1 [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
HgeneCOL1A1

GO:0010718

positive regulation of epithelial to mesenchymal transition

20018240

HgeneCOL1A1

GO:0030335

positive regulation of cell migration

20018240

HgeneCOL1A1

GO:0034504

protein localization to nucleus

20018240

HgeneCOL1A1

GO:0045893

positive regulation of transcription, DNA-templated

20018240

HgeneCOL1A1

GO:0090263

positive regulation of canonical Wnt signaling pathway

20018240

TgeneHSP90AB1

GO:0007004

telomere maintenance via telomerase

10197982

TgeneHSP90AB1

GO:0030511

positive regulation of transforming growth factor beta receptor signaling pathway

24613385

TgeneHSP90AB1

GO:0031396

regulation of protein ubiquitination

16809764

TgeneHSP90AB1

GO:0032435

negative regulation of proteasomal ubiquitin-dependent protein catabolic process

24613385

TgeneHSP90AB1

GO:0032516

positive regulation of phosphoprotein phosphatase activity

26593036

TgeneHSP90AB1

GO:0051131

chaperone-mediated protein complex assembly

10811660

TgeneHSP90AB1

GO:0051973

positive regulation of telomerase activity

10197982

TgeneHSP90AB1

GO:1901389

negative regulation of transforming growth factor beta activation

20599762

TgeneHSP90AB1

GO:1905323

telomerase holoenzyme complex assembly

10197982

TgeneHSP90AB1

GO:2000010

positive regulation of protein localization to cell surface

23431407


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
TCGALDBRCATCGA-A1-A0SH-01ACOL1A1chr17

48275093

-HSP90AB1chr6

44217758

+
* 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-shitENST00000225964ENST00000353801COL1A1chr17

48275093

-HSP90AB1chr6

44217758

+
Frame-shitENST00000225964ENST00000371646COL1A1chr17

48275093

-HSP90AB1chr6

44217758

+
Frame-shitENST00000225964ENST00000371554COL1A1chr17

48275093

-HSP90AB1chr6

44217758

+

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FusionProtFeatures for COL1A1_HSP90AB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COL1A1

P02452

HSP90AB1

P08238

Molecular chaperone that promotes the maturation,structural maintenance and proper regulation of specific targetproteins involved for instance in cell cycle control and signaltransduction. Undergoes a functional cycle that is linked to itsATPase activity. This cycle probably induces conformationalchanges in the client proteins, thereby causing their activation.Interacts dynamically with various co-chaperones that modulate itssubstrate recognition, ATPase cycle and chaperone function(PubMed:16478993, PubMed:19696785). Engages with a range of clientprotein classes via its interaction with various co-chaperoneproteins or complexes, that act as adapters, simultaneously ableto interact with the specific client and the central chaperoneitself. Recruitment of ATP and co-chaperone followed by clientprotein forms a functional chaperone. After the completion of thechaperoning process, properly folded client protein and co-chaperone leave HSP90 in an ADP-bound partially open conformationand finally, ADP is released from HSP90 which acquires an openconformation for the next cycle (PubMed:27295069,PubMed:26991466). Apart from its chaperone activity, it also playsa role in the regulation of the transcription machinery. HSP90 andits co-chaperones modulate transcription at least at threedifferent levels. In the first place, they alter the steady-statelevels of certain transcription factors in response to variousphysiological cues. Second, they modulate the activity of certainepigenetic modifiers, such as histone deacetylases or DNA methyltransferases, and thereby respond to the change in theenvironment. Third, they participate in the eviction of histonesfrom the promoter region of certain genes and thereby turn on geneexpression (PubMed:25973397). Antagonizes STUB1-mediatedinhibition of TGF-beta signaling via inhibition of STUB1-mediatedSMAD3 ubiquitination and degradation (PubMed:24613385). Promotescell differentiation by chaperoning BIRC2 and thereby protectingfrom auto-ubiquitination and degradation by the proteasomalmachinery (PubMed:18239673). Main chaperone that is involved inthe phosphorylation/activation of the STAT1 by chaperoning bothJAK2 and PRKCE under heat shock and in turn, activates its owntranscription (PubMed:20353823). {ECO:0000269|PubMed:16478993,ECO:0000269|PubMed:18239673, ECO:0000269|PubMed:19696785,ECO:0000269|PubMed:20353823, ECO:0000269|PubMed:24613385,ECO:0000303|PubMed:25973397, ECO:0000303|PubMed:26991466,ECO:0000303|PubMed:27295069}.

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 COL1A1_HSP90AB1


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 COL1A1_HSP90AB1


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
COL1A1IGFBP3, TXN, ITGA2, ITGB1, NID1, NID2, SPARC, PRELP, PKD1, VWF, THBS1, MMP2, COL7A1, MATN2, MAG, ELAVL1, ATP13A2, C12orf57, RNH1, BARD1, BRCA1, UBC, CAPN1, COL1A1, COL1A2, PDGFA, PDGFB, GIPC2, UBXN11, DNM3, CD200R1, TMTC4, ERAL1, CAMKMT, TMEM180, OTUB1, EGFR, COLGALT2, P4HA2, PLOD1, LIN9, TIMM44, RASGEF1B, TLE3, YAF2, LPAR1, CYLD, MCPH1HSP90AB1PPID, DDX24, AKT1, CDK9, HNRNPA1, CDK7, MEPCE, TAF10, RPAP3, GPN1, GTF2E2, KHDRBS2, MAPK6, MKNK1, STAT1, MGMT, PRKCE, JAK2, HSP90AA1, HIF1A, FGFR3, HAX1, USP50, AGO3, AGO4, CD4, HDAC5, YWHAB, HLA-DRA, HLA-DRB1, HLA-DRB3, HLA-DRB4, HLA-DRB5, PSMA3, TAF1D, TNNT1, NR4A1, REV1, RAD21, FCHSD2, ARRB2, ISG15, TERF1, TINF2, ACD, POT1, PSMA2, CUL3, CUL4A, CUL4B, CUL5, CUL2, CDK2, CUL1, DCUN1D1, CAND1, GRK6, TRIM8, PINK1, LRRK2, HTT, STK33, GRK5, INPPL1, UBASH3B, GRB2, SHC1, CRK, IP6K2, RPS6, RPL6, MYH9, RPL17, RPL14, RPL7A, RPS2, RPS26, HSPA5, RPS23, RPL32, RPL10A, RPS16, RPL3, HSP90AA2P, STIP1, HSPD1, MYL6, ATP5A1, RPLP0P6, EIF4A1, STOML2, HADHB, MCM5, DCTN2, ATP6V1B2, SNRPD1, HSP90AA5P, HSPA1A, WASL, EGFR, CCT2, YWHAE, CTNNB1, VCP, TRAF3IP1, SUGT1, TCP1, HSPH1, PRKDC, GNAI2, XPO1, PKM, GAPDH, PGK1, LDHA, ALDOA, MDH1, MTHFD1, PSAT1, FASN, NANS, ACTG1, TPM3, FLNA, SPTAN1, NUMA1, ACTN1, UBA1, PSMD1, PSMB5, AARS, EEF2, EIF3H, RPLP0, RPS4X, RPL7, RPS3A, RPL5, C12orf10, IARS2, RPSA, FN1, VCAM1, CSNK2A1, TP63, IFIT1, BRAF, PPP5C, NOS2, CAMKMT, METTL21B, METTL22, UBL4A, ITGA4, CFTR, AHSA1, MAP3K11, PHB, PAN2, NPM1, MAPK7, CDC37, HDAC6, BAG3, CYP17A1, CDC37L1, SGTA, PTGES3, CLIC4, FBXO6, PARK2, CDKN2A, LATS2, LATS1, COPS4, CAP1, KPNA2, MAGED2, MCM6, MCM7, PPP6R3, MCM2, MVP, CDK4, PRKACA, PRKACB, ADRBK1, CDK5, PRKAA1, RPS6KA1, UBC, AIP, CHORDC1, FKBP4, FKBP5, FKBP6, FKBPL, CCDC117, TTC4, STUB1, TOMM34, HGH1, TUBA1A, TMOD4, CACYBP, UNC45B, IVNS1ABP, MDM2, AIRE, AURKA, AURKB, CEP250, CEP76, LGALS3BP, TP53, TUBG1, TUBGCP2, TUBGCP3, HSP90AB1, HUWE1, FUS, NXF1, CUL7, OBSL1, CCDC8, EED, SUMO2, PSKH2, MYLK4, SMYD3, PCBP1, CRISPLD2, CDKL4, AURKC, CDK15, CDK18, CDK13, CDK3, RPS6KB2, LGALS3, HSPB1, UNK, CALR, DDOST, DNAJA2, ATP5B, HSPA4, HSPA8, HSPE1, IPO7, NPM3, P4HB, SSR4, TUBB, UBA52, UQCRC2, NTRK1, SCARNA22, PTEN, NUP85, NUP107, NPHP4, DBN1, DNAJC7, XRCC3, IKBKG, IQGAP1, SLC33A1, MAPRE1, MYO19, TUBA1C, TRAF2, IKBKB, NFKB1, GAN, UBE3A, SKI, CRY2, HSF1, ESRRB, MET, KEAP1, RHOBTB2, SNW1, CDC5L, SENP3, ERBB3, U2AF2, EGLN1, UNC45A, CDC73, CRBN, HYPK, ZNF746, CDH1, STK11, AKT3, CDK11A, STK35, GBP2, FYN, ITK, CLK3, PDIK1L, FANCA, SRC, SOD1, CYLD, DDX59, TNK2, ESR1, HEY1, BRCA1, TES, TXNIP, SERPINB5, SLC6A4


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 COL1A1_HSP90AB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCOL1A1P02452DB00048Collagenase clostridium histolyticumCollagen alpha-1(I) chainbiotechapproved|investigational
HgeneCOL1A1P02452DB13133Von Willebrand Factor HumanCollagen alpha-1(I) chainbiotechapproved|investigational

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RelatedDiseases for COL1A1_HSP90AB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL1A1C0268358Osteogenesis imperfecta, dominant perinatal lethal39CTD_human;ORPHANET;UNIPROT
HgeneCOL1A1C0268362Osteogenesis imperfecta type III (disorder)18CTD_human;ORPHANET;UNIPROT
HgeneCOL1A1C0268363Osteogenesis imperfecta type IV (disorder)14CTD_human;ORPHANET;UNIPROT
HgeneCOL1A1C0023931Lobstein's Disease12ORPHANET;UNIPROT
HgeneCOL1A1C0023890Liver Cirrhosis4CTD_human
HgeneCOL1A1C0023893Liver Cirrhosis, Experimental3CTD_human
HgeneCOL1A1C4225429Ehlers-Danlos syndrome classic type2UNIPROT
HgeneCOL1A1C0000786Spontaneous abortion1CTD_human
HgeneCOL1A1C0002949Aneurysm, Dissecting1CTD_human
HgeneCOL1A1C0003504Aortic Valve Insufficiency1CTD_human
HgeneCOL1A1C0004364Autoimmune Diseases1CTD_human
HgeneCOL1A1C0006663Calcinosis1CTD_human
HgeneCOL1A1C0008311Cholangitis1CTD_human
HgeneCOL1A1C0016059Fibrosis1CTD_human
HgeneCOL1A1C0018824Heart valve disease1CTD_human
HgeneCOL1A1C0020497Cortical Congenital Hyperostosis1CTD_human;ORPHANET;UNIPROT
HgeneCOL1A1C0020538Hypertensive disease1CTD_human
HgeneCOL1A1C0022548Keloid1CTD_human
HgeneCOL1A1C0027726Nephrotic Syndrome1CTD_human
HgeneCOL1A1C0029172Oral Submucous Fibrosis1CTD_human
HgeneCOL1A1C0029434Osteogenesis Imperfecta1CTD_human
HgeneCOL1A1C0149721Left Ventricular Hypertrophy1CTD_human
HgeneCOL1A1C1619692Nephrogenic Fibrosing Dermopathy1CTD_human
TgeneHSP90AB1C0019693HIV Infections1CTD_human
TgeneHSP90AB1C0033578Prostatic Neoplasms1CTD_human