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Fusion gene ID: 17753 |
FusionGeneSummary for ISCA1_WWP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ISCA1_WWP1 | Fusion gene ID: 17753 | Hgene | Tgene | Gene symbol | ISCA1 | WWP1 | Gene ID | 81689 | 11059 |
| Gene name | iron-sulfur cluster assembly 1 | WW domain containing E3 ubiquitin protein ligase 1 | |
| Synonyms | HBLD2|ISA1|MMDS5|hIscA | AIP5|Tiul1|hSDRP1 | |
| Cytomap | 9q21.33 | 8q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | iron-sulfur cluster assembly 1 homolog, mitochondrialHESB like domain containing 2HESB-like domain-containing protein 2iron-sulfur assembly protein IscA | NEDD4-like E3 ubiquitin-protein ligase WWP1HECT-type E3 ubiquitin transferase WWP1Nedd-4-like ubiquitin-protein ligaseTGIF-interacting ubiquitin ligase 1WW domain-containing protein 1atrophin-1 interacting protein 5 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9BUE6 | Q9H0M0 | |
| Ensembl transtripts involved in fusion gene | ENST00000375991, ENST00000452279, ENST00000311534, ENST00000326094, | ENST00000517970, ENST00000349423, ENST00000341922, ENST00000265428, ENST00000523863, | |
| Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 3 X 3 X 2=18 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ISCA1 [Title/Abstract] AND WWP1 [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 |
| 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 | SARC | TCGA-DX-A1KZ-01A | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| * 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 | ENST00000375991 | ENST00000517970 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| Frame-shift | ENST00000375991 | ENST00000349423 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| Frame-shift | ENST00000375991 | ENST00000341922 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| Frame-shift | ENST00000375991 | ENST00000265428 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| 5CDS-intron | ENST00000375991 | ENST00000523863 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| Frame-shift | ENST00000452279 | ENST00000517970 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| Frame-shift | ENST00000452279 | ENST00000349423 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| Frame-shift | ENST00000452279 | ENST00000341922 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| Frame-shift | ENST00000452279 | ENST00000265428 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| 5CDS-intron | ENST00000452279 | ENST00000523863 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| intron-3CDS | ENST00000311534 | ENST00000517970 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| intron-3CDS | ENST00000311534 | ENST00000349423 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| intron-3CDS | ENST00000311534 | ENST00000341922 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| intron-3CDS | ENST00000311534 | ENST00000265428 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| intron-intron | ENST00000311534 | ENST00000523863 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| Frame-shift | ENST00000326094 | ENST00000517970 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| Frame-shift | ENST00000326094 | ENST00000349423 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| Frame-shift | ENST00000326094 | ENST00000341922 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| Frame-shift | ENST00000326094 | ENST00000265428 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
| 5CDS-intron | ENST00000326094 | ENST00000523863 | ISCA1 | chr9 | 88897293 | - | WWP1 | chr8 | 87447681 | + |
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FusionProtFeatures for ISCA1_WWP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ISCA1 | WWP1 |
| Involved in the maturation of mitochondrial 4Fe-4Sproteins functioning late in the iron-sulfur cluster assemblypathway. Probably involved in the binding of an intermediate ofFe/S cluster assembly. {ECO:0000269|PubMed:15262227,ECO:0000269|PubMed:22323289}. | E3 ubiquitin-protein ligase which accepts ubiquitin froman E2 ubiquitin-conjugating enzyme in the form of a thioester andthen directly transfers the ubiquitin to targeted substrates.Ubiquitinates ERBB4 isoforms JM-A CYT-1 and JM-B CYT-1, KLF2, KLF5and TP63 and promotes their proteasomal degradation. UbiquitinatesRNF11 without targeting it for degradation. Ubiquitinates andpromotes degradation of TGFBR1; the ubiquitination is enhanced bySMAD7. Ubiquitinates SMAD6 and SMAD7. Ubiquitinates and promotesdegradation of SMAD2 in response to TGF-beta signaling, whichrequires interaction with TGIF. {ECO:0000269|PubMed:12535537,ECO:0000269|PubMed:15221015, ECO:0000269|PubMed:15359284}. |
| 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 ISCA1_WWP1 |
| 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 ISCA1_WWP1 |
| 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 |
| ISCA1 | ICT1, ELAVL1, GH2, RAB40A, RAB40B, ZMAT3, RAB40AL, NUDT6, LZTS2, WDR18, LPPR2, GCDH, PDIA6, HSPB9, TMEM17, ENTHD2, RGS3, LRRC36, TRIB1, TRIB2, GORASP2, SCGB1D1, CSH1, RIN1, TRAF2, SPATA24, FAM19A3 | WWP1 | ZNF638, CPSF6, EWSR1, DAZAP2, DIDO1, WBP1, WBP2, KLF2, SCNN1A, ATN1, RTN4, KLF5, PCBD1, STAT6, LZTR1, IKBKG, SMAD2, SMAD3, SMAD1, SMAD5, SMAD6, SMAD7, SKIL, ERBB4, ESR2, RNF11, SFTPC, SPG20, TP63, ARRDC1, ARRDC2, ARRDC3, EZR, HIVEP3, RUNX2, SMAD4, LNX1, PTPN14, UBE2L3, PRKAA2, HSP90AA1, FBXL15, LAPTM5, TRAF6, H2AFY2, PHF20L1, ASH2L, YWHAQ, NOTCH1, PTCH1, WWP1, FAM189A2, TRAF4, FBXL18, LATS1, EZH2, FAM189B, TMEM51, TMEM255B, TMEM255A, LDLRAD4, PTEN, HSPB1, CDK8, XRCC5, SETD4, LITAF, UBC, UBE2D1, UBE2D2, UBE2D3, DVL2, ITCH, WWP2, SARAF, TNFRSF19, TXNIP, ILDR1, PTPN21 |
| - 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 ISCA1_WWP1 |
| 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 ISCA1_WWP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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