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Fusion gene ID: 8125 |
FusionGeneSummary for CORIN_HECW2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CORIN_HECW2 | Fusion gene ID: 8125 | Hgene | Tgene | Gene symbol | CORIN | HECW2 | Gene ID | 10699 | 57520 |
| Gene name | corin, serine peptidase | HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | |
| Synonyms | ATC2|CRN|Lrp4|PEE5|TMPRSS10 | NDHSAL|NEDL2 | |
| Cytomap | 4p12 | 2q32.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | atrial natriuretic peptide-converting enzymeheart-specific serine proteinase ATC2pro-ANP-convertasepro-ANP-converting enzymetransmembrane protease serine 10 | E3 ubiquitin-protein ligase HECW2HECT-type E3 ubiquitin transferase HECW2NEDD4-like E3 ubiquitin-protein ligase 2NEDD4-related E3 ubiquitin ligase NEDL2 | |
| Modification date | 20180506 | 20180526 | |
| UniProtAcc | Q9Y5Q5 | Q9P2P5 | |
| Ensembl transtripts involved in fusion gene | ENST00000273857, ENST00000508498, ENST00000502252, ENST00000505909, ENST00000504584, ENST00000515827, | ENST00000260983, ENST00000409111, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 5 X 4 X 4=80 |
| # samples | 1 | 5 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CORIN [Title/Abstract] AND HECW2 [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 | CORIN | GO:0016486 | peptide hormone processing | 10880574 |
| 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 |
| ChiTaRS3.1 | BG429734 | CORIN | chr4 | 47774289 | - | HECW2 | chr2 | 197069604 | - |
| * 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 |
| intron-intron | ENST00000273857 | ENST00000260983 | CORIN | chr4 | 47774289 | - | HECW2 | chr2 | 197069604 | - |
| intron-intron | ENST00000273857 | ENST00000409111 | CORIN | chr4 | 47774289 | - | HECW2 | chr2 | 197069604 | - |
| intron-intron | ENST00000508498 | ENST00000260983 | CORIN | chr4 | 47774289 | - | HECW2 | chr2 | 197069604 | - |
| intron-intron | ENST00000508498 | ENST00000409111 | CORIN | chr4 | 47774289 | - | HECW2 | chr2 | 197069604 | - |
| intron-intron | ENST00000502252 | ENST00000260983 | CORIN | chr4 | 47774289 | - | HECW2 | chr2 | 197069604 | - |
| intron-intron | ENST00000502252 | ENST00000409111 | CORIN | chr4 | 47774289 | - | HECW2 | chr2 | 197069604 | - |
| intron-intron | ENST00000505909 | ENST00000260983 | CORIN | chr4 | 47774289 | - | HECW2 | chr2 | 197069604 | - |
| intron-intron | ENST00000505909 | ENST00000409111 | CORIN | chr4 | 47774289 | - | HECW2 | chr2 | 197069604 | - |
| intron-intron | ENST00000504584 | ENST00000260983 | CORIN | chr4 | 47774289 | - | HECW2 | chr2 | 197069604 | - |
| intron-intron | ENST00000504584 | ENST00000409111 | CORIN | chr4 | 47774289 | - | HECW2 | chr2 | 197069604 | - |
| intron-intron | ENST00000515827 | ENST00000260983 | CORIN | chr4 | 47774289 | - | HECW2 | chr2 | 197069604 | - |
| intron-intron | ENST00000515827 | ENST00000409111 | CORIN | chr4 | 47774289 | - | HECW2 | chr2 | 197069604 | - |
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FusionProtFeatures for CORIN_HECW2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CORIN | HECW2 |
| Serine-type endopeptidase involved in atrial natriureticpeptide hormone (NPPA) processing. Converts through proteolyticcleavage the non-functional propeptide NPPA into the activehormone, thereby regulating blood pressure in heart and promotingnatriuresis, diuresis and vasodilation. Proteolytic cleavage ofpro-NPPA also plays a role in female pregnancy by promotingtrophoblast invasion and spiral artery remodeling in uterus. Alsoacts as a regulator of sodium reabsorption in kidney. May alsoprocess pro-NPPB the B-type natriuretic peptide. Isoform 2: has weaker endopeptidase activity compared toisoform 1. | E3 ubiquitin-protein ligase that mediates ubiquitinationof TP73. Acts to stabilize TP73 and enhance activation oftranscription by TP73 (PubMed:12890487). Involved in theregulation of mitotic metaphase/anaphase transition(PubMed:24163370). {ECO:0000269|PubMed:12890487,ECO:0000269|PubMed:24163370}. |
| 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 CORIN_HECW2 |
| 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 CORIN_HECW2 |
| 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 |
| - 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 CORIN_HECW2 |
| 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 CORIN_HECW2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CORIN | C3281288 | PREECLAMPSIA/ECLAMPSIA 5 | 1 | UNIPROT |
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