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Fusion gene ID: 5182 |
FusionGeneSummary for CACNA1C_RHOB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CACNA1C_RHOB | Fusion gene ID: 5182 | Hgene | Tgene | Gene symbol | CACNA1C | RHOB | Gene ID | 775 | 388 |
| Gene name | calcium voltage-gated channel subunit alpha1 C | ras homolog family member B | |
| Synonyms | CACH2|CACN2|CACNL1A1|CCHL1A1|CaV1.2|LQT8|TS | ARH6|ARHB|MST081|MSTP081|RHOH6 | |
| Cytomap | 12p13.33 | 2p24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | voltage-dependent L-type calcium channel subunit alpha-1CDHPR, alpha-1 subunitcalcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac musclecalcium channel, cardic dihydropyridine-sensitive, alpha-1 subunitcalcium channel, voltage-dependent, | rho-related GTP-binding protein RhoBAplysia RAS-related homolog 6h6oncogene RHO H6ras homolog gene family, member Brho cDNA clone 6 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q13936 | P62745 | |
| Ensembl transtripts involved in fusion gene | ENST00000335762, ENST00000399655, ENST00000480911, ENST00000399644, ENST00000344100, ENST00000399638, ENST00000399629, ENST00000399597, ENST00000327702, ENST00000399621, ENST00000399649, ENST00000399637, ENST00000402845, ENST00000399591, ENST00000399641, ENST00000347598, ENST00000399606, ENST00000399595, ENST00000399601, ENST00000399603, ENST00000399634, ENST00000399617, ENST00000406454, ENST00000491104, | ENST00000272233, | |
| Fusion gene scores | * DoF score | 13 X 10 X 7=910 | 2 X 2 X 1=4 |
| # samples | 12 | 2 | |
| ** MAII score | log2(12/910*10)=-2.92283213947754 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: CACNA1C [Title/Abstract] AND RHOB [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 | CACNA1C | GO:0007204 | positive regulation of cytosolic calcium ion concentration | 12130699 |
| Hgene | CACNA1C | GO:0061577 | calcium ion transmembrane transport via high voltage-gated calcium channel | 15454078 |
| Hgene | CACNA1C | GO:0070588 | calcium ion transmembrane transport | 15454078 |
| Tgene | RHOB | GO:0008333 | endosome to lysosome transport | 10508588 |
| Tgene | RHOB | GO:0030336 | negative regulation of cell migration | 20460403 |
| Tgene | RHOB | GO:0070301 | cellular response to hydrogen peroxide | 21373644 |
| Tgene | RHOB | GO:0071479 | cellular response to ionizing radiation | 21373644 |
| 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 | BF993074 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| * 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-3UTR | ENST00000335762 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000399655 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000480911 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000399644 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000344100 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000399638 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000399629 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000399597 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000327702 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000399621 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000399649 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000399637 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000402845 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000399591 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000399641 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000347598 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000399606 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000399595 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000399601 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000399603 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000399634 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000399617 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000406454 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
| intron-3UTR | ENST00000491104 | ENST00000272233 | CACNA1C | chr12 | 2296057 | - | RHOB | chr2 | 20648973 | - |
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FusionProtFeatures for CACNA1C_RHOB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CACNA1C | RHOB |
| Mediates apoptosis in neoplastically transformed cellsafter DNA damage. Not essential for development but affects celladhesion and growth factor signaling in transformed cells. Plays anegative role in tumorigenesis as deletion causes tumor formation.Involved in intracellular protein trafficking of a number ofproteins. Targets PKN1 to endosomes and is involved in traffickingof the EGF receptor from late endosomes to lysosomes. Alsorequired for stability and nuclear trafficking of AKT1/AKT whichpromotes endothelial cell survival during vascular development.Serves as a microtubule-dependent signal that is required for themyosin contractile ring formation during cell cycle cytokinesis.Required for genotoxic stress-induced cell death in breast cancercells. {ECO:0000269|PubMed:10508588, ECO:0000269|PubMed:15226397,ECO:0000269|PubMed:16236794, ECO:0000269|PubMed:21373644,ECO:0000269|PubMed:9478917}. |
| 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 CACNA1C_RHOB |
| 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 CACNA1C_RHOB |
| 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 CACNA1C_RHOB |
| 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 |
| Hgene | CACNA1C | Q13936 | DB00308 | Ibutilide | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved |
| Hgene | CACNA1C | Q13936 | DB00381 | Amlodipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved |
| Hgene | CACNA1C | Q13936 | DB00401 | Nisoldipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved |
| Hgene | CACNA1C | Q13936 | DB00661 | Verapamil | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved |
| Hgene | CACNA1C | Q13936 | DB00898 | Ethanol | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved |
| Hgene | CACNA1C | Q13936 | DB01115 | Nifedipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved |
| Hgene | CACNA1C | Q13936 | DB04855 | Dronedarone | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved |
| Hgene | CACNA1C | Q13936 | DB09089 | Trimebutine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved |
| Hgene | CACNA1C | Q13936 | DB09227 | Barnidipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved |
| Hgene | CACNA1C | Q13936 | DB00270 | Isradipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational |
| Hgene | CACNA1C | Q13936 | DB00393 | Nimodipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational |
| Hgene | CACNA1C | Q13936 | DB00568 | Cinnarizine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational |
| Hgene | CACNA1C | Q13936 | DB00622 | Nicardipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational |
| Hgene | CACNA1C | Q13936 | DB01023 | Felodipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational |
| Hgene | CACNA1C | Q13936 | DB01054 | Nitrendipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational |
| Hgene | CACNA1C | Q13936 | DB04920 | Clevidipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational |
| Hgene | CACNA1C | Q13936 | DB06712 | Nilvadipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational |
| Hgene | CACNA1C | Q13936 | DB06751 | Drotaverine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational |
| Hgene | CACNA1C | Q13936 | DB09231 | Benidipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational |
| Hgene | CACNA1C | Q13936 | DB09232 | Cilnidipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational |
| Hgene | CACNA1C | Q13936 | DB09236 | Lacidipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational |
| Hgene | CACNA1C | Q13936 | DB09238 | Manidipine | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational |
| Hgene | CACNA1C | Q13936 | DB11633 | Isavuconazole | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational |
| Hgene | CACNA1C | Q13936 | DB00653 | Magnesium sulfate | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|investigational|vet_approved |
| Hgene | CACNA1C | Q13936 | DB01373 | Calcium | Voltage-dependent L-type calcium channel subunit alpha-1C | small molecule | approved|nutraceutical |
| Tgene | RHOB | P62745 | DB00083 | Botulinum Toxin Type A | Rho-related GTP-binding protein RhoB | biotech | approved|investigational |
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RelatedDiseases for CACNA1C_RHOB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CACNA1C | C0005586 | Bipolar Disorder | 8 | CTD_human;PSYGENET |
| Hgene | CACNA1C | C1832916 | Timothy syndrome | 6 | CTD_human;ORPHANET;UNIPROT |
| Hgene | CACNA1C | C0011570 | Mental Depression | 5 | PSYGENET |
| Hgene | CACNA1C | C0011581 | Depressive disorder | 5 | PSYGENET |
| Hgene | CACNA1C | C0041696 | Unipolar Depression | 5 | PSYGENET |
| Hgene | CACNA1C | C0525045 | Mood Disorders | 5 | PSYGENET |
| Hgene | CACNA1C | C1269683 | Major Depressive Disorder | 5 | PSYGENET |
| Hgene | CACNA1C | C0036341 | Schizophrenia | 4 | PSYGENET |
| Hgene | CACNA1C | C0033975 | Psychotic Disorders | 3 | PSYGENET |
| Hgene | CACNA1C | C0178417 | Anhedonia | 2 | PSYGENET |
| Hgene | CACNA1C | C0003811 | Cardiac Arrhythmia | 1 | CTD_human |
| Hgene | CACNA1C | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | CACNA1C | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | CACNA1C | C0020615 | Hypoglycemia | 1 | CTD_human |
| Hgene | CACNA1C | C0021051 | Immunologic Deficiency Syndromes | 1 | CTD_human |
| Hgene | CACNA1C | C0206762 | Limb Deformities, Congenital | 1 | CTD_human |
| Hgene | CACNA1C | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| Hgene | CACNA1C | C2678478 | Brugada Syndrome 3 | 1 | CTD_human;UNIPROT |
| Tgene | RHOB | C0036421 | Systemic Scleroderma | 1 | CTD_human |
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