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Fusion gene ID: 38264 |
FusionGeneSummary for TMBIM6_CLCN3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TMBIM6_CLCN3 | Fusion gene ID: 38264 | Hgene | Tgene | Gene symbol | TMBIM6 | CLCN3 | Gene ID | 7009 | 1182 |
| Gene name | transmembrane BAX inhibitor motif containing 6 | chloride voltage-gated channel 3 | |
| Synonyms | BAXI1|BI-1|TEGT | CLC3|ClC-3 | |
| Cytomap | 12q13.12 | 4q33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bax inhibitor 1testis enhanced gene transcripttestis-enhanced gene transcript proteintransmembrane BAX inhibitor motif-containing protein 6 | H(+)/Cl(-) exchange transporter 3chloride channel 3chloride channel protein 3chloride channel, voltage-sensitive 3chloride transporter ClC-3 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P55061 | P51790 | |
| Ensembl transtripts involved in fusion gene | ENST00000548589, ENST00000552699, ENST00000267115, ENST00000549385, ENST00000423828, ENST00000395006, ENST00000547798, | ENST00000513761, ENST00000347613, ENST00000360642, ENST00000504131, ENST00000506924, | |
| Fusion gene scores | * DoF score | 11 X 15 X 6=990 | 36 X 4 X 19=2736 |
| # samples | 18 | 39 | |
| ** MAII score | log2(18/990*10)=-2.4594316186373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(39/2736*10)=-2.81052220113629 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TMBIM6 [Title/Abstract] AND CLCN3 [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 | TMBIM6 | GO:0010523 | negative regulation of calcium ion transport into cytosol | 26582200 |
| Hgene | TMBIM6 | GO:0032091 | negative regulation of protein binding | 19328063 |
| Hgene | TMBIM6 | GO:0060702 | negative regulation of endoribonuclease activity | 19328063 |
| Hgene | TMBIM6 | GO:1902065 | response to L-glutamate | 21075086 |
| Hgene | TMBIM6 | GO:1902236 | negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 21075086 |
| Hgene | TMBIM6 | GO:1903298 | negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway | 21075086 |
| Hgene | TMBIM6 | GO:2001234 | negative regulation of apoptotic signaling pathway | 21075086 |
| Tgene | CLCN3 | GO:1902476 | chloride transmembrane transport | 11274166 |
| 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 | BLCA | TCGA-FD-A3SM-01A | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| TCGA | RV | PRAD | TCGA-G9-6371-01A | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| * 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 | ENST00000548589 | ENST00000513761 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000548589 | ENST00000347613 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000548589 | ENST00000360642 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000548589 | ENST00000504131 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000548589 | ENST00000506924 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000552699 | ENST00000513761 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000552699 | ENST00000347613 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000552699 | ENST00000360642 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000552699 | ENST00000504131 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000552699 | ENST00000506924 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| 5CDS-intron | ENST00000267115 | ENST00000513761 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| 5CDS-intron | ENST00000267115 | ENST00000347613 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| 5CDS-intron | ENST00000267115 | ENST00000360642 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| 5CDS-intron | ENST00000267115 | ENST00000504131 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| 5CDS-intron | ENST00000267115 | ENST00000506924 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000549385 | ENST00000513761 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000549385 | ENST00000347613 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000549385 | ENST00000360642 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000549385 | ENST00000504131 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000549385 | ENST00000506924 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| 5CDS-intron | ENST00000423828 | ENST00000513761 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| 5CDS-intron | ENST00000423828 | ENST00000347613 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| 5CDS-intron | ENST00000423828 | ENST00000360642 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| 5CDS-intron | ENST00000423828 | ENST00000504131 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| 5CDS-intron | ENST00000423828 | ENST00000506924 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000395006 | ENST00000513761 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000395006 | ENST00000347613 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000395006 | ENST00000360642 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000395006 | ENST00000504131 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000395006 | ENST00000506924 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000547798 | ENST00000513761 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000547798 | ENST00000347613 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000547798 | ENST00000360642 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000547798 | ENST00000504131 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
| intron-intron | ENST00000547798 | ENST00000506924 | TMBIM6 | chr12 | 50158717 | + | CLCN3 | chr4 | 170623929 | + |
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FusionProtFeatures for TMBIM6_CLCN3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TMBIM6 | CLCN3 |