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Fusion gene ID: 39700 |
FusionGeneSummary for TRPV6_KEL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TRPV6_KEL | Fusion gene ID: 39700 | Hgene | Tgene | Gene symbol | TRPV6 | KEL | Gene ID | 55503 | 3792 |
| Gene name | transient receptor potential cation channel subfamily V member 6 | Kell metallo-endopeptidase (Kell blood group) | |
| Synonyms | ABP/ZF|CAT1|CATL|ECAC2|HSA277909|LP6728|ZFAB | CD238|ECE3 | |
| Cytomap | 7q34 | 7q34 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transient receptor potential cation channel subfamily V member 6Alu-binding protein with zinc finger domaincalcium transport protein 1calcium transporter-like proteinepithelial apical membrane calcium transporter/channel CaT1epithelial calcium channe | kell blood group glycoproteinKell blood group, metallo-endopeptidaseKell glycoproteinkell blood group antigentruncated Kell blood group glycoprotein | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q9H1D0 | P23276 | |
| Ensembl transtripts involved in fusion gene | ENST00000359396, | ENST00000355265, ENST00000479768, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
| # samples | 1 | 1 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: TRPV6 [Title/Abstract] AND KEL [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 | TRPV6 | GO:0006816 | calcium ion transport | 23612980 |
| Hgene | TRPV6 | GO:0070588 | calcium ion transmembrane transport | 11097838 |
| Hgene | TRPV6 | GO:0098703 | calcium ion import across plasma membrane | 11097838 |
| 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 | BRCA | TCGA-LL-A5YO-01A | TRPV6 | chr7 | 142583134 | - | KEL | chr7 | 142640970 | - |
| * 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 |
| In-frame | ENST00000359396 | ENST00000355265 | TRPV6 | chr7 | 142583134 | - | KEL | chr7 | 142640970 | - |
| 5CDS-intron | ENST00000359396 | ENST00000479768 | TRPV6 | chr7 | 142583134 | - | KEL | chr7 | 142640970 | - |
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FusionProtFeatures for TRPV6_KEL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TRPV6 | KEL |
| Calcium selective cation channel that mediates Ca(2+)uptake in various tissues, including the intestine(PubMed:11097838, PubMed:11278579, PubMed:11248124PubMed:15184369, PubMed:23612980, PubMed:29258289). Important fornormal Ca(2+) ion homeostasis in the body, including bone and skin(By similarity). The channel is activated by low internal calciumlevel, probably including intracellular calcium store depletion,and the current exhibits an inward rectification(PubMed:15184369). Inactivation includes both a rapid Ca(2+)-dependent and a slower Ca(2+)-calmodulin-dependent mechanism; thelatter may be regulated by phosphorylation. In vitro, is slowlyinhibited by Mg(2+) in a voltage-independent manner. Heteromericassembly with TRPV5 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependentgating. {ECO:0000250|UniProtKB:Q91WD2,ECO:0000269|PubMed:11097838, ECO:0000269|PubMed:11248124,ECO:0000269|PubMed:11278579, ECO:0000269|PubMed:15184369,ECO:0000269|PubMed:23612980, ECO:0000269|PubMed:29258289}. | Zinc endopeptidase with endothelin-3-converting enzymeactivity. Cleaves EDN1, EDN2 and EDN3, with a marked preferencefor EDN3. {ECO:0000269|PubMed:10438732}. |
| 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 |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 566_585 | 42 | 726 | Intramembrane | Pore-forming |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 581_585 | 42 | 726 | Motif | Selectivity filter |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 118_147 | 42 | 726 | Repeat | Note=ANK 2 |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 156_185 | 42 | 726 | Repeat | Note=ANK 3 |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 202_231 | 42 | 726 | Repeat | Note=ANK 4 |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 235_277 | 42 | 726 | Repeat | Note=ANK 5 |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 279_308 | 42 | 726 | Repeat | Note=ANK 5 |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 84_114 | 42 | 726 | Repeat | Note=ANK 1 |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 1_367 | 42 | 726 | Topological domain | Cytoplasmic |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 389_425 | 42 | 726 | Topological domain | Extracellular |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 449_463 | 42 | 726 | Topological domain | Cytoplasmic |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 484_489 | 42 | 726 | Topological domain | Extracellular |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 510_529 | 42 | 726 | Topological domain | Cytoplasmic |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 553_565 | 42 | 726 | Topological domain | Extracellular |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 586_596 | 42 | 726 | Topological domain | Extracellular |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 618_765 | 42 | 726 | Topological domain | Cytoplasmic |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 368_388 | 42 | 726 | Transmembrane | Helical |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 426_448 | 42 | 726 | Transmembrane | Helical |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 464_483 | 42 | 726 | Transmembrane | Helical |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 490_509 | 42 | 726 | Transmembrane | Helical |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 530_552 | 42 | 726 | Transmembrane | Helical |
| Hgene | >TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 597_617 | 42 | 726 | Transmembrane | Helical |
| Tgene | KEL | chr7:142583134 | chr7:142640970 | ENST00000355265 | - | 12 | 19 | 1_47 | 497 | 733 | Topological domain | Cytoplasmic |
| Tgene | KEL | chr7:142583134 | chr7:142640970 | ENST00000355265 | - | 12 | 19 | 68_732 | 497 | 733 | Topological domain | Extracellular |
| Tgene | KEL | chr7:142583134 | chr7:142640970 | ENST00000355265 | - | 12 | 19 | 48_67 | 497 | 733 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
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FusionGeneSequence for TRPV6_KEL |
| 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 TRPV6_KEL |
| 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 |
| TRPV6 | MDFI, S100A10, CALM1, PRKCA, NEDD4, PDE9A, TRAF1, PNMA1, MID2, KRT40, KRTAP10-5, KRTAP10-8, KRTAP10-3, NOTCH2NL | KEL | EWSR1, TUBA1A, CUL3, UBC |
| - 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 |
| Hgene | TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 133_143 | 42 | 726 | calmodulin |
| Hgene | TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 731_751 | 42 | 726 | calmodulin |
| Hgene | TRPV6 | chr7:142583134 | chr7:142640970 | ENST00000359396 | - | 1 | 15 | 638_642 | 42 | 726 | S100A10 |
| - 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 TRPV6_KEL |
| 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 TRPV6_KEL |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TRPV6 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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