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Fusion gene ID: 2364 |
FusionGeneSummary for ARHGAP10_EDNRA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARHGAP10_EDNRA | Fusion gene ID: 2364 | Hgene | Tgene | Gene symbol | ARHGAP10 | EDNRA | Gene ID | 79658 | 1909 |
| Gene name | Rho GTPase activating protein 10 | endothelin receptor type A | |
| Synonyms | GRAF2|PS-GAP|PSGAP | ET-A|ETA|ETA-R|ETAR|ETRA|MFDA|hET-AR | |
| Cytomap | 4q31.23 | 4q31.22-q31.23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rho GTPase-activating protein 10GTPase regulator associated with focal adhesion kinase 2graf-related protein 2rho-type GTPase-activating protein 10 | endothelin-1 receptorG protein-coupled receptorendothelin receptor subtype Aendothelin-1-specific receptor | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | A1A4S6 | P25101 | |
| Ensembl transtripts involved in fusion gene | ENST00000336498, ENST00000414545, ENST00000510076, | ENST00000339690, ENST00000358556, ENST00000511804, ENST00000324300, ENST00000506066, ENST00000503721, | |
| Fusion gene scores | * DoF score | 4 X 5 X 5=100 | 1 X 1 X 1=1 |
| # samples | 6 | 1 | |
| ** MAII score | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ARHGAP10 [Title/Abstract] AND EDNRA [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-A3LS-01A | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| * 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 |
| 5CDS-intron | ENST00000336498 | ENST00000339690 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| 5CDS-intron | ENST00000336498 | ENST00000358556 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| 5CDS-5UTR | ENST00000336498 | ENST00000511804 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| 5CDS-5UTR | ENST00000336498 | ENST00000324300 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| 5CDS-intron | ENST00000336498 | ENST00000506066 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| 5CDS-intron | ENST00000336498 | ENST00000503721 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| 5CDS-intron | ENST00000414545 | ENST00000339690 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| 5CDS-intron | ENST00000414545 | ENST00000358556 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| 5CDS-5UTR | ENST00000414545 | ENST00000511804 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| 5CDS-5UTR | ENST00000414545 | ENST00000324300 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| 5CDS-intron | ENST00000414545 | ENST00000506066 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| 5CDS-intron | ENST00000414545 | ENST00000503721 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| intron-intron | ENST00000510076 | ENST00000339690 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| intron-intron | ENST00000510076 | ENST00000358556 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| intron-5UTR | ENST00000510076 | ENST00000511804 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| intron-5UTR | ENST00000510076 | ENST00000324300 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| intron-intron | ENST00000510076 | ENST00000506066 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
| intron-intron | ENST00000510076 | ENST00000503721 | ARHGAP10 | chr4 | 148887990 | + | EDNRA | chr4 | 148441003 | + |
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FusionProtFeatures for ARHGAP10_EDNRA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARHGAP10 | EDNRA |
| GTPase activator for the small GTPases RhoA and Cdc42 byconverting them to an inactive GDP-bound state. Essential forPTKB2 regulation of cytoskeletal organization via Rho familyGTPases. Inhibits PAK2 proteolytic fragment PAK-2p34 kinaseactivity and changes its localization from the nucleus to theperinuclear region. Stabilizes PAK-2p34 thereby increasingstimulation of cell death (By similarity). {ECO:0000250,ECO:0000269|PubMed:11432776}. |
| 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 ARHGAP10_EDNRA |
| 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 ARHGAP10_EDNRA |
| 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 |
| ARHGAP10 | PKN3, RHOA, CDC42, YWHAQ, C2CD2, SH3BP2, ANKS1A, FOXQ1, PTPN12, ARHGAP26, NRXN1, ARF6 | EDNRA | KAT5, HDAC7, GNA11, COPS5, ARRB1, ARRB2, SRC, VPS11, EDN1, ARL5B, SYNGR2, ND1, SLC5A3, EBP, MTX1, LMBR1, COX1, PXMP2, MCL1, VKORC1L1, BCL2L11 |
| - 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 ARHGAP10_EDNRA |
| 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 |
| Tgene | EDNRA | P25101 | DB08932 | Macitentan | Endothelin-1 receptor {ECO:0000305} | small molecule | approved |
| Tgene | EDNRA | P25101 | DB00559 | Bosentan | Endothelin-1 receptor {ECO:0000305} | small molecule | approved|investigational |
| Tgene | EDNRA | P25101 | DB06403 | Ambrisentan | Endothelin-1 receptor {ECO:0000305} | small molecule | approved|investigational |
| Tgene | EDNRA | P25101 | DB06268 | Sitaxentan | Endothelin-1 receptor {ECO:0000305} | small molecule | approved|investigational|withdrawn |
| Tgene | EDNRA | P25101 | DB00945 | Acetylsalicylic acid | Endothelin-1 receptor {ECO:0000305} | small molecule | approved|vet_approved |
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RelatedDiseases for ARHGAP10_EDNRA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | EDNRA | C0019284 | Diaphragmatic Hernia | 2 | CTD_human |
| Tgene | EDNRA | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| Tgene | EDNRA | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Tgene | EDNRA | C0018798 | Congenital Heart Defects | 1 | CTD_human |
| Tgene | EDNRA | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | EDNRA | C0027439 | Nasopharyngeal Neoplasms | 1 | CTD_human |
| Tgene | EDNRA | C0242350 | Erectile dysfunction | 1 | CTD_human |
| Tgene | EDNRA | C0520679 | Sleep Apnea, Obstructive | 1 | CTD_human |
| Tgene | EDNRA | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Tgene | EDNRA | C4225349 | MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA | 1 | ORPHANET;UNIPROT |
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