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Fusion gene ID: 2549 |
FusionGeneSummary for ARHGEF1_TMC8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARHGEF1_TMC8 | Fusion gene ID: 2549 | Hgene | Tgene | Gene symbol | ARHGEF1 | TMC8 | Gene ID | 9138 | 147138 |
| Gene name | Rho guanine nucleotide exchange factor 1 | transmembrane channel like 8 | |
| Synonyms | GEF1|LBCL2|LSC|P115-RHOGEF|SUB1.5 | EV2|EVER2|EVIN2 | |
| Cytomap | 19q13.2 | 17q25.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rho guanine nucleotide exchange factor 1115 kDa guanine nucleotide exchange factor115-kD proteinLsc homologRho guanine nucleotide exchange factor (GEF) 1p115RhoGEF | transmembrane channel-like protein 8epidermodysplasia verruciformis 2epidermodysplasia verruciformis protein 2 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q92888 | Q8IU68 | |
| Ensembl transtripts involved in fusion gene | ENST00000354532, ENST00000599846, ENST00000596957, ENST00000347545, ENST00000378152, ENST00000337665, | ENST00000318430, ENST00000589691, ENST00000591144, | |
| Fusion gene scores | * DoF score | 10 X 9 X 5=450 | 5 X 5 X 3=75 |
| # samples | 12 | 5 | |
| ** MAII score | log2(12/450*10)=-1.90689059560852 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ARHGEF1 [Title/Abstract] AND TMC8 [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 |
| Tgene | TMC8 | GO:0001558 | regulation of cell growth | 18158319 |
| Tgene | TMC8 | GO:0032091 | negative regulation of protein binding | 23429285 |
| Tgene | TMC8 | GO:0032460 | negative regulation of protein oligomerization | 23429285 |
| Tgene | TMC8 | GO:0055069 | zinc ion homeostasis | 18158319 |
| Tgene | TMC8 | GO:1902041 | regulation of extrinsic apoptotic signaling pathway via death domain receptors | 23429285 |
| 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 | AW028312 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| * 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 |
| 3UTR-3UTR | ENST00000354532 | ENST00000318430 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| 3UTR-3UTR | ENST00000354532 | ENST00000589691 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| 3UTR-intron | ENST00000354532 | ENST00000591144 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| 3UTR-3UTR | ENST00000599846 | ENST00000318430 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| 3UTR-3UTR | ENST00000599846 | ENST00000589691 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| 3UTR-intron | ENST00000599846 | ENST00000591144 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| intron-3UTR | ENST00000596957 | ENST00000318430 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| intron-3UTR | ENST00000596957 | ENST00000589691 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| intron-intron | ENST00000596957 | ENST00000591144 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| 3UTR-3UTR | ENST00000347545 | ENST00000318430 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| 3UTR-3UTR | ENST00000347545 | ENST00000589691 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| 3UTR-intron | ENST00000347545 | ENST00000591144 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| 5CDS-3UTR | ENST00000378152 | ENST00000318430 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| 5CDS-3UTR | ENST00000378152 | ENST00000589691 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| 5CDS-intron | ENST00000378152 | ENST00000591144 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| 3UTR-3UTR | ENST00000337665 | ENST00000318430 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| 3UTR-3UTR | ENST00000337665 | ENST00000589691 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
| 3UTR-intron | ENST00000337665 | ENST00000591144 | ARHGEF1 | chr19 | 42411523 | - | TMC8 | chr17 | 76138969 | - |
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FusionProtFeatures for ARHGEF1_TMC8 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARHGEF1 | TMC8 |
| Seems to play a role in the regulation of RhoA GTPase byguanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13)subunits. Acts as GTPase-activating protein (GAP) for GNA12 andGNA13, and as guanine nucleotide exchange factor (GEF) for RhoAGTPase. Activated G alpha 13/GNA13 stimulates the RhoGEF activitythrough interaction with the RGS-like domain. This GEF activity isinhibited by binding to activated GNA12. Mediates angiotensin-2-induced RhoA activation. {ECO:0000269|PubMed:20098430,ECO:0000269|PubMed:8810315, ECO:0000269|PubMed:9641915,ECO:0000269|PubMed:9641916}. | Probable ion channel. {ECO:0000250}. |
| 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 ARHGEF1_TMC8 |
| 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 ARHGEF1_TMC8 |
| 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 ARHGEF1_TMC8 |
| 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 ARHGEF1_TMC8 |
| 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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