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Fusion gene ID: 39654 |
FusionGeneSummary for TROVE2_CACNA1S |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TROVE2_CACNA1S | Fusion gene ID: 39654 | Hgene | Tgene | Gene symbol | TROVE2 | CACNA1S | Gene ID | 6738 | 779 |
| Gene name | TROVE domain family member 2 | calcium voltage-gated channel subunit alpha1 S | |
| Synonyms | RO60|RORNP|SSA2 | CACNL1A3|CCHL1A3|Cav1.1|HOKPP|HOKPP1|MHS5|TTPP1|hypoPP | |
| Cytomap | 1q31.2 | 1q32.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 60 kDa SS-A/Ro ribonucleoprotein60 kDa ribonucleoprotein RoSjogren syndrome antigen A2 (60kD, ribonucleoprotein autoantigen SS-A/Ro)gastric cancer multi-drug resistance proteinsjoegren syndrome type A antigen | voltage-dependent L-type calcium channel subunit alpha-1Scalcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis)calcium channel, voltage-dependent, L type, alpha 1S subunitdihydropyridine receptor alpha | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P10155 | Q13698 | |
| Ensembl transtripts involved in fusion gene | ENST00000400968, ENST00000432079, ENST00000460715, ENST00000416058, ENST00000367446, ENST00000367445, ENST00000367444, ENST00000367443, ENST00000367441, | ENST00000367338, ENST00000362061, | |
| 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: TROVE2 [Title/Abstract] AND CACNA1S [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 | CACNA1S | GO:0006816 | calcium ion transport | 9852570 |
| 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-VP-A875-01A | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| * 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 |
| 5UTR-3CDS | ENST00000400968 | ENST00000367338 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| 5UTR-3CDS | ENST00000400968 | ENST00000362061 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| 5UTR-3CDS | ENST00000432079 | ENST00000367338 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| 5UTR-3CDS | ENST00000432079 | ENST00000362061 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| 3UTR-3CDS | ENST00000460715 | ENST00000367338 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| 3UTR-3CDS | ENST00000460715 | ENST00000362061 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| intron-3CDS | ENST00000416058 | ENST00000367338 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| intron-3CDS | ENST00000416058 | ENST00000362061 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| intron-3CDS | ENST00000367446 | ENST00000367338 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| intron-3CDS | ENST00000367446 | ENST00000362061 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| intron-3CDS | ENST00000367445 | ENST00000367338 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| intron-3CDS | ENST00000367445 | ENST00000362061 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| intron-3CDS | ENST00000367444 | ENST00000367338 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| intron-3CDS | ENST00000367444 | ENST00000362061 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| intron-3CDS | ENST00000367443 | ENST00000367338 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| intron-3CDS | ENST00000367443 | ENST00000362061 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| intron-3CDS | ENST00000367441 | ENST00000367338 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
| intron-3CDS | ENST00000367441 | ENST00000362061 | TROVE2 | chr1 | 193028906 | + | CACNA1S | chr1 | 201039532 | - |
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FusionProtFeatures for TROVE2_CACNA1S |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TROVE2 | CACNA1S |
| Pore-forming, alpha-1S subunit of the voltage-gatedcalcium channel that gives rise to L-type calcium currents inskeletal muscle. Calcium channels containing the alpha-1S subunitplay an important role in excitation-contraction coupling inskeletal muscle via their interaction with RYR1, which triggersCa(2+) release from the sarcplasmic reticulum and ultimatelyresults in muscle contraction. Long-lasting (L-type) calciumchannels belong to the 'high-voltage activated' (HVA) group.{ECO:0000250|UniProtKB:P07293}. |
| 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 TROVE2_CACNA1S |
| 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 TROVE2_CACNA1S |
| 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 |
| TROVE2 | PUF60, CUL3, TRIM21, SSB, TEP1, PAGR1, METTL18, CARS, GFPT1, HIRIP3, RPL24, SF1, FAF1, GARS, GART, HIST1H4A, HSPA4, JMJD6, PPAT, PPM1G, PRMT3, RANBP3, SEC23A, UGP2, XPO7, UNK, ATL3, SUB1, UQCRQ, NTRK1, RNY3, RNY1, DUSP12, ELAVL2, RBM3, UBE2A | CACNA1S | SRI, YWHAQ, PPP2R2A, PDZD3 |
| - 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 TROVE2_CACNA1S |
| 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 | CACNA1S | Q13698 | DB00381 | Amlodipine | Voltage-dependent L-type calcium channel subunit alpha-1S | small molecule | approved |
| Tgene | CACNA1S | Q13698 | DB00401 | Nisoldipine | Voltage-dependent L-type calcium channel subunit alpha-1S | small molecule | approved |
| Tgene | CACNA1S | Q13698 | DB00661 | Verapamil | Voltage-dependent L-type calcium channel subunit alpha-1S | small molecule | approved |
| Tgene | CACNA1S | Q13698 | DB00898 | Ethanol | Voltage-dependent L-type calcium channel subunit alpha-1S | small molecule | approved |
| Tgene | CACNA1S | Q13698 | DB01115 | Nifedipine | Voltage-dependent L-type calcium channel subunit alpha-1S | small molecule | approved |
| Tgene | CACNA1S | Q13698 | DB04855 | Dronedarone | Voltage-dependent L-type calcium channel subunit alpha-1S | small molecule | approved |
| Tgene | CACNA1S | Q13698 | DB09090 | Pinaverium | Voltage-dependent L-type calcium channel subunit alpha-1S | small molecule | approved |
| Tgene | CACNA1S | Q13698 | DB00270 | Isradipine | Voltage-dependent L-type calcium channel subunit alpha-1S | small molecule | approved|investigational |
| Tgene | CACNA1S | Q13698 | DB00393 | Nimodipine | Voltage-dependent L-type calcium channel subunit alpha-1S | small molecule | approved|investigational |
| Tgene | CACNA1S | Q13698 | DB00568 | Cinnarizine | Voltage-dependent L-type calcium channel subunit alpha-1S | small molecule | approved|investigational |
| Tgene | CACNA1S | Q13698 | DB01023 | Felodipine | Voltage-dependent L-type calcium channel subunit alpha-1S | small molecule | approved|investigational |
| Tgene | CACNA1S | Q13698 | DB01054 | Nitrendipine | Voltage-dependent L-type calcium channel subunit alpha-1S | small molecule | approved|investigational |
| Tgene | CACNA1S | Q13698 | DB04920 | Clevidipine | Voltage-dependent L-type calcium channel subunit alpha-1S | small molecule | approved|investigational |
| Tgene | CACNA1S | Q13698 | DB06712 | Nilvadipine | Voltage-dependent L-type calcium channel subunit alpha-1S | small molecule | approved|investigational |
| Tgene | CACNA1S | Q13698 | DB00653 | Magnesium sulfate | Voltage-dependent L-type calcium channel subunit alpha-1S | small molecule | approved|investigational|vet_approved |
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RelatedDiseases for TROVE2_CACNA1S |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CACNA1S | C3714580 | Hypokalemic periodic paralysis type 1 | 5 | CTD_human;UNIPROT |
| Tgene | CACNA1S | C0238358 | Hypokalemic periodic paralysis | 2 | CTD_human;ORPHANET |
| Tgene | CACNA1S | C0035229 | Respiratory Insufficiency | 1 | CTD_human |
| Tgene | CACNA1S | C1866077 | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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