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Fusion gene ID: 39681 |
FusionGeneSummary for TRPM8_SLC4A4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TRPM8_SLC4A4 | Fusion gene ID: 39681 | Hgene | Tgene | Gene symbol | TRPM8 | SLC4A4 | Gene ID | 79054 | 8671 |
| Gene name | transient receptor potential cation channel subfamily M member 8 | solute carrier family 4 member 4 | |
| Synonyms | LTRPC6|LTrpC-6|TRPP8|trp-p8 | HNBC1|KNBC|NBC1|NBC2|NBCe1-A|SLC4A5|hhNMC|kNBC1|pNBC | |
| Cytomap | 2q37.1 | 4q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transient receptor potential cation channel subfamily M member 8TRPM8 cationic channeltransient receptor potential p8transient receptor potential subfamily M member 8 | electrogenic sodium bicarbonate cotransporter 1Na(+)/HCO3(-) cotransportersodium bicarbonate cotransporter 1 (sodium bicarbonate cotransporter, kidney; sodium bicarbonate cotransporter, pancreas)solute carrier family 4 (sodium bicarbonate cotransporter | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q7Z2W7 | Q9Y6R1 | |
| Ensembl transtripts involved in fusion gene | ENST00000324695, ENST00000433712, ENST00000355722, ENST00000409625, ENST00000466594, | ENST00000264485, ENST00000425175, ENST00000351898, ENST00000340595, ENST00000514331, ENST00000512686, | |
| Fusion gene scores | * DoF score | 4 X 4 X 1=16 | 10 X 8 X 5=400 |
| # samples | 4 | 11 | |
| ** MAII score | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(11/400*10)=-1.86249647625006 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TRPM8 [Title/Abstract] AND SLC4A4 [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 | SLC4A4 | GO:0006814 | sodium ion transport | 16769890 |
| 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 | PRAD | TCGA-KK-A7AZ-01A | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| * 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 | ENST00000324695 | ENST00000264485 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| Frame-shift | ENST00000324695 | ENST00000425175 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| Frame-shift | ENST00000324695 | ENST00000351898 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| Frame-shift | ENST00000324695 | ENST00000340595 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| 5CDS-3UTR | ENST00000324695 | ENST00000514331 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| 5CDS-3UTR | ENST00000324695 | ENST00000512686 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| Frame-shift | ENST00000433712 | ENST00000264485 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| Frame-shift | ENST00000433712 | ENST00000425175 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| Frame-shift | ENST00000433712 | ENST00000351898 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| Frame-shift | ENST00000433712 | ENST00000340595 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| 5CDS-3UTR | ENST00000433712 | ENST00000514331 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| 5CDS-3UTR | ENST00000433712 | ENST00000512686 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3CDS | ENST00000355722 | ENST00000264485 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3CDS | ENST00000355722 | ENST00000425175 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3CDS | ENST00000355722 | ENST00000351898 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3CDS | ENST00000355722 | ENST00000340595 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3UTR | ENST00000355722 | ENST00000514331 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3UTR | ENST00000355722 | ENST00000512686 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3CDS | ENST00000409625 | ENST00000264485 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3CDS | ENST00000409625 | ENST00000425175 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3CDS | ENST00000409625 | ENST00000351898 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3CDS | ENST00000409625 | ENST00000340595 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3UTR | ENST00000409625 | ENST00000514331 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3UTR | ENST00000409625 | ENST00000512686 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3CDS | ENST00000466594 | ENST00000264485 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3CDS | ENST00000466594 | ENST00000425175 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3CDS | ENST00000466594 | ENST00000351898 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3CDS | ENST00000466594 | ENST00000340595 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3UTR | ENST00000466594 | ENST00000514331 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
| intron-3UTR | ENST00000466594 | ENST00000512686 | TRPM8 | chr2 | 234905160 | + | SLC4A4 | chr4 | 72306333 | + |
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FusionProtFeatures for TRPM8_SLC4A4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TRPM8 | SLC4A4 |
| Receptor-activated non-selective cation channel involvedin detection of sensations such as coolness, by being activated bycold temperature below 25 degrees Celsius. Activated by icilin,eucalyptol, menthol, cold and modulation of intracellular pH.Involved in menthol sensation. Permeable for monovalent cationssodium, potassium, and cesium and divalent cation calcium.Temperature sensing is tightly linked to voltage-dependent gating.Activated upon depolarization, changes in temperature resulting ingraded shifts of its voltage-dependent activation curves. Thechemical agonist menthol functions as a gating modifier, shiftingactivation curves towards physiological membrane potentials.Temperature sensitivity arises from a tenfold difference in theactivation energies associated with voltage-dependent opening andclosing. In prostate cancer cells, shows strong inwardrectification and high calcium selectivity in contrast to itsbehavior in normal cells which is characterized by outwardrectification and poor cationic selectivity. Plays a role inprostate cancer cell migration (PubMed:25559186). Isoform 2 andisoform 3 negatively regulate menthol- and cold-induced channelactivity by stabilizing the closed state of the channel.{ECO:0000269|PubMed:15306801, ECO:0000269|PubMed:16174775,ECO:0000269|PubMed:22128173, ECO:0000269|PubMed:25559186}. |
| 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 TRPM8_SLC4A4 |
| 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 TRPM8_SLC4A4 |
| 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 |
| TRPM8 | SF3A3, CHAMP1, USP10, TXLNA, ZC3H18, RTF1, AKAP5, TRPM4, KCNJ11, STX5, PCNXL3, TMBIM6 | SLC4A4 | SREBF2 |
| - 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 TRPM8_SLC4A4 |
| 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 TRPM8_SLC4A4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TRPM8 | C0149931 | Migraine Disorders | 1 | CTD_human |
| Hgene | TRPM8 | C0338480 | Common Migraine | 1 | CTD_human |
| Tgene | SLC4A4 | C1970309 | Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation | 3 | CTD_human;ORPHANET;UNIPROT |
| Tgene | SLC4A4 | C0001126 | Renal tubular acidosis | 1 | CTD_human |
| Tgene | SLC4A4 | C0008073 | Developmental Disabilities | 1 | CTD_human |
| Tgene | SLC4A4 | C0010038 | Corneal Opacity | 1 | CTD_human |
| Tgene | SLC4A4 | C0017601 | Glaucoma | 1 | CTD_human;HPO |
| Tgene | SLC4A4 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | SLC4A4 | C0086543 | Cataract | 1 | CTD_human;HPO |
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