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Fusion gene ID: 7875 |
FusionGeneSummary for COL1A1_HSP90AB1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COL1A1_HSP90AB1 | Fusion gene ID: 7875 | Hgene | Tgene | Gene symbol | COL1A1 | HSP90AB1 | Gene ID | 1277 | 3326 |
| Gene name | collagen type I alpha 1 chain | heat shock protein 90 alpha family class B member 1 | |
| Synonyms | EDSARTH1|EDSC|OI1|OI2|OI3|OI4 | D6S182|HSP84|HSP90B|HSPC2|HSPCB | |
| Cytomap | 17q21.33 | 6p21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | collagen 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 pro | heat 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 date | 20180527 | 20180522 | |
| UniProtAcc | P02452 | P08238 | |
| Ensembl transtripts involved in fusion gene | ENST00000225964, | ENST00000353801, ENST00000371646, ENST00000371554, | |
| Fusion gene scores | * DoF score | 28 X 47 X 4=5264 | 8 X 7 X 5=280 |
| # samples | 52 | 8 | |
| ** MAII score | log2(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) |
| 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 | COL1A1 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 20018240 |
| Hgene | COL1A1 | GO:0030335 | positive regulation of cell migration | 20018240 |
| Hgene | COL1A1 | GO:0034504 | protein localization to nucleus | 20018240 |
| Hgene | COL1A1 | GO:0045893 | positive regulation of transcription, DNA-templated | 20018240 |
| Hgene | COL1A1 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 20018240 |
| Tgene | HSP90AB1 | GO:0007004 | telomere maintenance via telomerase | 10197982 |
| Tgene | HSP90AB1 | GO:0030511 | positive regulation of transforming growth factor beta receptor signaling pathway | 24613385 |
| Tgene | HSP90AB1 | GO:0031396 | regulation of protein ubiquitination | 16809764 |
| Tgene | HSP90AB1 | GO:0032435 | negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 24613385 |
| Tgene | HSP90AB1 | GO:0032516 | positive regulation of phosphoprotein phosphatase activity | 26593036 |
| Tgene | HSP90AB1 | GO:0051131 | chaperone-mediated protein complex assembly | 10811660 |
| Tgene | HSP90AB1 | GO:0051973 | positive regulation of telomerase activity | 10197982 |
| Tgene | HSP90AB1 | GO:1901389 | negative regulation of transforming growth factor beta activation | 20599762 |
| Tgene | HSP90AB1 | GO:1905323 | telomerase holoenzyme complex assembly | 10197982 |
| Tgene | HSP90AB1 | GO:2000010 | positive regulation of protein localization to cell surface | 23431407 |
| 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 | BRCA | TCGA-A1-A0SH-01A | COL1A1 | chr17 | 48275093 | - | HSP90AB1 | chr6 | 44217758 | + |
| * 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 |
| Frame-shift | ENST00000225964 | ENST00000353801 | COL1A1 | chr17 | 48275093 | - | HSP90AB1 | chr6 | 44217758 | + |
| Frame-shift | ENST00000225964 | ENST00000371646 | COL1A1 | chr17 | 48275093 | - | HSP90AB1 | chr6 | 44217758 | + |
| Frame-shift | ENST00000225964 | ENST00000371554 | COL1A1 | chr17 | 48275093 | - | HSP90AB1 | chr6 | 44217758 | + |
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FusionProtFeatures for COL1A1_HSP90AB1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COL1A1 | HSP90AB1 |
| 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}. |
| 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 COL1A1_HSP90AB1 |
| 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 |
| 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 |
| COL1A1 | IGFBP3, 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, MCPH1 | HSP90AB1 | PPID, 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 |
| - 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 COL1A1_HSP90AB1 |
| 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 |
| Hgene | COL1A1 | P02452 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-1(I) chain | biotech | approved|investigational |
| Hgene | COL1A1 | P02452 | DB13133 | Von Willebrand Factor Human | Collagen alpha-1(I) chain | biotech | approved|investigational |
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RelatedDiseases for COL1A1_HSP90AB1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | COL1A1 | C0268358 | Osteogenesis imperfecta, dominant perinatal lethal | 39 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL1A1 | C0268362 | Osteogenesis imperfecta type III (disorder) | 18 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL1A1 | C0268363 | Osteogenesis imperfecta type IV (disorder) | 14 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL1A1 | C0023931 | Lobstein's Disease | 12 | ORPHANET;UNIPROT |
| Hgene | COL1A1 | C0023890 | Liver Cirrhosis | 4 | CTD_human |
| Hgene | COL1A1 | C0023893 | Liver Cirrhosis, Experimental | 3 | CTD_human |
| Hgene | COL1A1 | C4225429 | Ehlers-Danlos syndrome classic type | 2 | UNIPROT |
| Hgene | COL1A1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Hgene | COL1A1 | C0002949 | Aneurysm, Dissecting | 1 | CTD_human |
| Hgene | COL1A1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
| Hgene | COL1A1 | C0004364 | Autoimmune Diseases | 1 | CTD_human |
| Hgene | COL1A1 | C0006663 | Calcinosis | 1 | CTD_human |
| Hgene | COL1A1 | C0008311 | Cholangitis | 1 | CTD_human |
| Hgene | COL1A1 | C0016059 | Fibrosis | 1 | CTD_human |
| Hgene | COL1A1 | C0018824 | Heart valve disease | 1 | CTD_human |
| Hgene | COL1A1 | C0020497 | Cortical Congenital Hyperostosis | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL1A1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | COL1A1 | C0022548 | Keloid | 1 | CTD_human |
| Hgene | COL1A1 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
| Hgene | COL1A1 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
| Hgene | COL1A1 | C0029434 | Osteogenesis Imperfecta | 1 | CTD_human |
| Hgene | COL1A1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
| Hgene | COL1A1 | C1619692 | Nephrogenic Fibrosing Dermopathy | 1 | CTD_human |
| Tgene | HSP90AB1 | C0019693 | HIV Infections | 1 | CTD_human |
| Tgene | HSP90AB1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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