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Fusion gene ID: 16817 |
FusionGeneSummary for HSF1_ADAMTS12 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HSF1_ADAMTS12 | Fusion gene ID: 16817 | Hgene | Tgene | Gene symbol | HSF1 | ADAMTS12 | Gene ID | 3297 | 81792 |
| Gene name | heat shock transcription factor 1 | ADAM metallopeptidase with thrombospondin type 1 motif 12 | |
| Synonyms | HSTF1 | PRO4389 | |
| Cytomap | 8q24.3 | 5p13.3-p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | heat shock factor protein 1 | A disintegrin and metalloproteinase with thrombospondin motifs 12ADAM-TS 12ADAM-TS12ADAMTS-12a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q00613 | P58397 | |
| Ensembl transtripts involved in fusion gene | ENST00000528838, ENST00000400780, ENST00000528842, | ENST00000504830, ENST00000352040, ENST00000504582, ENST00000515401, | |
| Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 7 X 4 X 5=140 |
| # samples | 7 | 7 | |
| ** MAII score | log2(7/60*10)=0.222392421336448 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/140*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: HSF1 [Title/Abstract] AND ADAMTS12 [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 | HSF1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8926278|9341107 |
| Hgene | HSF1 | GO:0000165 | MAPK cascade | 12917326 |
| Hgene | HSF1 | GO:0009299 | mRNA transcription | 21597468 |
| Hgene | HSF1 | GO:0034605 | cellular response to heat | 7935471|9222587|9341107|10359787|10413683|10747973|11514557|11583998|12917326|14707147|16554823|17897941|21085490|26159920 |
| Hgene | HSF1 | GO:0034620 | cellular response to unfolded protein | 15016915 |
| Hgene | HSF1 | GO:0034622 | cellular protein-containing complex assembly | 11583998 |
| Hgene | HSF1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9341107|10561509|11514557|12917326|16278218|21085490 |
| Hgene | HSF1 | GO:0051260 | protein homooligomerization | 8455624 |
| Hgene | HSF1 | GO:0061408 | positive regulation of transcription from RNA polymerase II promoter in response to heat stress | 7760831|9499401|10747973|12659875|12665592|15016915|25963659|26754925 |
| Hgene | HSF1 | GO:0070207 | protein homotrimerization | 8455624 |
| Hgene | HSF1 | GO:0071276 | cellular response to cadmium ion | 10359787|11514557|15016915|25963659 |
| Hgene | HSF1 | GO:0071280 | cellular response to copper ion | 15016915 |
| Hgene | HSF1 | GO:0071480 | cellular response to gamma radiation | 26359349 |
| Hgene | HSF1 | GO:0072738 | cellular response to diamide | 15016915 |
| Hgene | HSF1 | GO:1900034 | regulation of cellular response to heat | 11583998 |
| Hgene | HSF1 | GO:1903936 | cellular response to sodium arsenite | 15016915 |
| Tgene | ADAMTS12 | GO:0030167 | proteoglycan catabolic process | 17895370 |
| Tgene | ADAMTS12 | GO:0032331 | negative regulation of chondrocyte differentiation | 22247065 |
| Tgene | ADAMTS12 | GO:0050727 | regulation of inflammatory response | 23019333 |
| Tgene | ADAMTS12 | GO:0051603 | proteolysis involved in cellular protein catabolic process | 16611630 |
| Tgene | ADAMTS12 | GO:0071773 | cellular response to BMP stimulus | 22247065 |
| Tgene | ADAMTS12 | GO:1901509 | regulation of endothelial tube morphogenesis | 17895370 |
| Tgene | ADAMTS12 | GO:1902203 | negative regulation of hepatocyte growth factor receptor signaling pathway | 17895370 |
| Tgene | ADAMTS12 | GO:1902548 | negative regulation of cellular response to vascular endothelial growth factor stimulus | 17895370 |
| Tgene | ADAMTS12 | GO:2001113 | negative regulation of cellular response to hepatocyte growth factor stimulus | 17895370 |
| 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 | RV | BRCA | TCGA-BH-A0B3-01A | HSF1 | chr8 | 145515556 | + | ADAMTS12 | chr5 | 33596165 | - |
| * 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 | ENST00000528838 | ENST00000504830 | HSF1 | chr8 | 145515556 | + | ADAMTS12 | chr5 | 33596165 | - |
| Frame-shift | ENST00000528838 | ENST00000352040 | HSF1 | chr8 | 145515556 | + | ADAMTS12 | chr5 | 33596165 | - |
| 5CDS-5UTR | ENST00000528838 | ENST00000504582 | HSF1 | chr8 | 145515556 | + | ADAMTS12 | chr5 | 33596165 | - |
| 5CDS-intron | ENST00000528838 | ENST00000515401 | HSF1 | chr8 | 145515556 | + | ADAMTS12 | chr5 | 33596165 | - |
| intron-3CDS | ENST00000400780 | ENST00000504830 | HSF1 | chr8 | 145515556 | + | ADAMTS12 | chr5 | 33596165 | - |
| intron-3CDS | ENST00000400780 | ENST00000352040 | HSF1 | chr8 | 145515556 | + | ADAMTS12 | chr5 | 33596165 | - |
| intron-5UTR | ENST00000400780 | ENST00000504582 | HSF1 | chr8 | 145515556 | + | ADAMTS12 | chr5 | 33596165 | - |
| intron-intron | ENST00000400780 | ENST00000515401 | HSF1 | chr8 | 145515556 | + | ADAMTS12 | chr5 | 33596165 | - |
| intron-3CDS | ENST00000528842 | ENST00000504830 | HSF1 | chr8 | 145515556 | + | ADAMTS12 | chr5 | 33596165 | - |
| intron-3CDS | ENST00000528842 | ENST00000352040 | HSF1 | chr8 | 145515556 | + | ADAMTS12 | chr5 | 33596165 | - |
| intron-5UTR | ENST00000528842 | ENST00000504582 | HSF1 | chr8 | 145515556 | + | ADAMTS12 | chr5 | 33596165 | - |
| intron-intron | ENST00000528842 | ENST00000515401 | HSF1 | chr8 | 145515556 | + | ADAMTS12 | chr5 | 33596165 | - |
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FusionProtFeatures for HSF1_ADAMTS12 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HSF1 | ADAMTS12 |
| Function as a stress-inducible and DNA-bindingtranscription factor that plays a central role in thetranscriptional activation of the heat shock response (HSR),leading to the expression of a large class of molecular chaperonesheat shock proteins (HSPs) that protect cells from cellularinsults' damage (PubMed:1871105, PubMed:11447121, PubMed:1986252,PubMed:7760831, PubMed:7623826, PubMed:8946918, PubMed:8940068,PubMed:9341107, PubMed:9121459, PubMed:9727490, PubMed:9499401,PubMed:9535852, PubMed:12659875, PubMed:12917326, PubMed:15016915,PubMed:25963659, PubMed:26754925). In unstressed cells, is presentin a HSP90-containing multichaperone complex that maintains it ina non-DNA-binding inactivated monomeric form (PubMed:9727490,PubMed:11583998, PubMed:16278218). Upon exposure to heat and otherstress stimuli, undergoes homotrimerization and activates HSP genetranscription through binding to site-specific heat shock elements(HSEs) present in the promoter regions of HSP genes(PubMed:1871105, PubMed:1986252, PubMed:8455624, PubMed:7935471,PubMed:7623826, PubMed:8940068, PubMed:9727490, PubMed:9499401,PubMed:10359787, PubMed:11583998, PubMed:12659875,PubMed:16278218, PubMed:25963659, PubMed:26754925). Activation isreversible, and during the attenuation and recovery phase periodof the HSR, returns to its unactivated form (PubMed:11583998,PubMed:16278218). Binds to inverted 5'-NGAAN-3' pentamer DNAsequences (PubMed:1986252, PubMed:26727489). Binds to chromatin atheat shock gene promoters (PubMed:25963659). Plays also severalother functions independently of its transcriptional activity.Involved in the repression of Ras-induced transcriptionalactivation of the c-fos gene in heat-stressed cells(PubMed:9341107). Positively regulates pre-mRNA 3'-end processingand polyadenylation of HSP70 mRNA upon heat-stressed cells in asymplekin (SYMPK)-dependent manner (PubMed:14707147). Plays a rolein nuclear export of stress-induced HSP70 mRNA (PubMed:17897941).Plays a role in the regulation of mitotic progression(PubMed:18794143). Plays also a role as a negative regulator ofnon-homologous end joining (NHEJ) repair activity in a DNA damage-dependent manner (PubMed:26359349). Involved in stress-inducedcancer cell proliferation in a IER5-dependent manner(PubMed:26754925). {ECO:0000269|PubMed:10359787,ECO:0000269|PubMed:11447121, ECO:0000269|PubMed:11583998,ECO:0000269|PubMed:12659875, ECO:0000269|PubMed:12917326,ECO:0000269|PubMed:14707147, ECO:0000269|PubMed:15016915,ECO:0000269|PubMed:16278218, ECO:0000269|PubMed:17897941,ECO:0000269|PubMed:1871105, ECO:0000269|PubMed:18794143,ECO:0000269|PubMed:1986252, ECO:0000269|PubMed:25963659,ECO:0000269|PubMed:26359349, ECO:0000269|PubMed:26727489,ECO:0000269|PubMed:26754925, ECO:0000269|PubMed:7623826,ECO:0000269|PubMed:7760831, ECO:0000269|PubMed:7935471,ECO:0000269|PubMed:8455624, ECO:0000269|PubMed:8940068,ECO:0000269|PubMed:8946918, ECO:0000269|PubMed:9121459,ECO:0000269|PubMed:9341107, ECO:0000269|PubMed:9499401,ECO:0000269|PubMed:9535852, ECO:0000269|PubMed:9727490}. (Microbial infection) Plays a role in latent humanimmunodeficiency virus (HIV-1) transcriptional reactivation. Bindsto the HIV-1 long terminal repeat promoter (LTR) to reactivateviral transcription by recruiting cellular transcriptionalelongation factors, such as CDK9, CCNT1 and EP300.{ECO:0000269|PubMed:27189267}. | Metalloprotease that may play a role in the degradationof COMP. Cleaves also alpha-2 macroglobulin and aggregan. Hasanti-tumorigenic properties. {ECO:0000269|PubMed:16611630,ECO:0000269|PubMed:17895370, ECO:0000269|PubMed:18485748}. |
| 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 HSF1_ADAMTS12 |
| 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 HSF1_ADAMTS12 |
| 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 |
| HSF1 | SYMPK, HSF2, RALBP1, HSP90AA1, SMARCA4, SMARCB1, HSPA4, FKBP5, FKBP4, PPID, PTGES3, ENO2, HSPA1A, DNAJB1, STAT1, TBP, GTF2B, CEBPB, XRCC5, PRKDC, HSPA8, XRCC6, HSBP1, SIRT1, HDAC1, HDAC2, MTA1, CHD3, FILIP1, CDC20, HSPB1, HSPB2, TAF9, STUB1, UBE2I, PCGF2, PLK1, BTRC, MAD2L1, DAXX, DENND5B, MAPK1, MAPK8, CDK6, STRAP, MAPKAPK2, BAG3, CHST10, AARS, DR1, AAMP, ANKMY2, ARPC1B, BTF3L4, C14orf142, CALU, CBS, CTPS2, DHPS, DTD1, GOPC, LRSAM1, MTMR2, RPRD1A, SURF2, TPRKB, UBE3A, ZPR1, IPO11, KIAA0101, PLIN3, SRP9, KPNA3, HSPA4L, NME2, KPNA4, HSPBP1, HSF4, NCOA6, CREBBP, HSF1, LURAP1L, MYH13, FBXW7, HSP90AB1, NEDD4, EP300, HYPK, BAG4, EFTUD2, BUB1, LRRC16A, RGAG1, HSPA1L, SMC6, USP15, SPAG9, MCM2, MCM4, MCM6, EPS15L1, IVNS1ABP, GTF3C4, SMC1A, GAPVD1, RAB28, MAPRE2, CFAP20, MNS1, DCAF7, EAPP, TSSC4, SUMO1 | ADAMTS12 | CALM2, MEOX2, MYL6, UBR1, FKBP9, SP3, PPM1A, SNRK, USF2, USF1, RUFY3 |
| - 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 HSF1_ADAMTS12 |
| 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 HSF1_ADAMTS12 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HSF1 | C0011570 | Mental Depression | 1 | PSYGENET |
| Hgene | HSF1 | C0011581 | Depressive disorder | 1 | PSYGENET |
| Hgene | HSF1 | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
| Tgene | ADAMTS12 | C0036341 | Schizophrenia | 1 | PSYGENET |
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