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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:CACNA1H-COL6A2 (FusionGDB2 ID:HG8912TG1292) |
Fusion Gene Summary for CACNA1H-COL6A2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CACNA1H-COL6A2 | Fusion gene ID: hg8912tg1292 | Hgene | Tgene | Gene symbol | CACNA1H | COL6A2 | Gene ID | 8912 | 1292 |
| Gene name | calcium voltage-gated channel subunit alpha1 H | collagen type VI alpha 2 chain | |
| Synonyms | CACNA1HB|Cav3.2|ECA6|EIG6|HALD4 | BTHLM1|PP3610|UCMD1 | |
| Cytomap | ('CACNA1H')('COL6A2') 16p13.3 | 21q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | voltage-dependent T-type calcium channel subunit alpha-1Hcalcium channel, voltage-dependent, T type, alpha 1H subunitcalcium channel, voltage-dependent, T type, alpha 1Hb subunitlow-voltage-activated calcium channel alpha1 3.2 subunitlow-voltage-activ | collagen alpha-2(VI) chaincollagen VI, alpha-2 polypeptidecollagen, type VI, alpha 2epididymis secretory sperm binding proteinhuman mRNA for collagen VI alpha-2 C-terminal globular domain | |
| Modification date | 20200313 | 20200328 | |
| UniProtAcc | O95180 | P12110 | |
| Ensembl transtripts involved in fusion gene | ENST00000348261, ENST00000358590, ENST00000565831, | ||
| Fusion gene scores | * DoF score | 5 X 5 X 2=50 | 12 X 11 X 7=924 |
| # samples | 5 | 13 | |
| ** MAII score | log2(5/50*10)=0 | log2(13/924*10)=-2.8293812283876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CACNA1H [Title/Abstract] AND COL6A2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CACNA1H(1271471)-COL6A2(47552150), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | CACNA1H | GO:0042391 | regulation of membrane potential | 21084288 |
| Hgene | CACNA1H | GO:0070509 | calcium ion import | 21084288 |
| Hgene | CACNA1H | GO:0098662 | inorganic cation transmembrane transport | 27149520 |
| Fusion gene information * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for CACNA1H-COL6A2 |
| 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 |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for CACNA1H-COL6A2 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for CACNA1H-COL6A2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:1271471/:47552150) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CACNA1H | COL6A2 |
| FUNCTION: Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation (PubMed:9670923, PubMed:9930755, PubMed:27149520). T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle (Probable). They may also be involved in the modulation of firing patterns of neurons (PubMed:15048902). In the adrenal zona glomerulosa, participates in the signaling pathway leading to aldosterone production in response to either AGT/angiotensin II, or hyperkalemia (PubMed:25907736, PubMed:27729216). {ECO:0000269|PubMed:24277868, ECO:0000269|PubMed:25907736, ECO:0000269|PubMed:27149520, ECO:0000269|PubMed:27729216, ECO:0000269|PubMed:9670923, ECO:0000269|PubMed:9930755, ECO:0000305, ECO:0000305|PubMed:15048902}. | FUNCTION: Collagen VI acts as a cell-binding protein. |
| 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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Fusion Gene Sequence for CACNA1H-COL6A2 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for CACNA1H-COL6A2 |
| 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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Related Drugs for CACNA1H-COL6A2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | CACNA1H | O95180 | DB00661 | Verapamil | Inhibitor | Small molecule | Approved |
| Hgene | CACNA1H | O95180 | DB04841 | Flunarizine | Inhibitor | Small molecule | Approved |
| Hgene | CACNA1H | O95180 | DB00270 | Isradipine | Inhibitor | Small molecule | Approved|Investigational |
| Hgene | CACNA1H | O95180 | DB00568 | Cinnarizine | Inhibitor | Small molecule | Approved|Investigational |
| Hgene | CACNA1H | O95180 | DB00909 | Zonisamide | Inhibitor | Small molecule | Approved|Investigational |
| Hgene | CACNA1H | O95180 | DB01023 | Felodipine | Inhibitor | Small molecule | Approved|Investigational |
| Hgene | CACNA1H | O95180 | DB01054 | Nitrendipine | Inhibitor | Small molecule | Approved|Investigational |
| Hgene | CACNA1H | O95180 | DB09061 | Cannabidiol | Small molecule | Approved|Investigational | |
| Hgene | CACNA1H | O95180 | DB01244 | Bepridil | Inhibitor | Small molecule | Approved|Withdrawn |
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Related Diseases for CACNA1H-COL6A2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CACNA1H | C0014548 | Epilepsy, Generalized | 6 | CLINGEN |
| Hgene | CACNA1H | C2749872 | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 | 5 | GENOMICS_ENGLAND;UNIPROT |
| Hgene | CACNA1H | C0020429 | Hyperalgesia | 2 | CTD_human |
| Hgene | CACNA1H | C0458247 | Allodynia | 2 | CTD_human |
| Hgene | CACNA1H | C0751211 | Hyperalgesia, Primary | 2 | CTD_human |
| Hgene | CACNA1H | C0751212 | Hyperalgesia, Secondary | 2 | CTD_human |
| Hgene | CACNA1H | C0751213 | Tactile Allodynia | 2 | CTD_human |
| Hgene | CACNA1H | C0751214 | Hyperalgesia, Thermal | 2 | CTD_human |
| Hgene | CACNA1H | C2936719 | Mechanical Allodynia | 2 | CTD_human |
| Hgene | CACNA1H | C4310756 | HYPERALDOSTERONISM, FAMILIAL, TYPE IV | 2 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | CACNA1H | C0002875 | Cooley's anemia | 1 | CTD_human |
| Hgene | CACNA1H | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | CACNA1H | C0005283 | beta Thalassemia | 1 | CTD_human |
| Hgene | CACNA1H | C0013221 | Drug toxicity | 1 | CTD_human |
| Hgene | CACNA1H | C0019025 | Hemoglobin F Disease | 1 | CTD_human |
| Hgene | CACNA1H | C0041755 | Adverse reaction to drug | 1 | CTD_human |
| Hgene | CACNA1H | C0085578 | Thalassemia Minor | 1 | CTD_human |
| Hgene | CACNA1H | C0271979 | Thalassemia Intermedia | 1 | CTD_human |
| Hgene | CACNA1H | C1838604 | EPILEPSY, CHILDHOOD ABSENCE, 1 | 1 | ORPHANET |
| Hgene | CACNA1H | C4721453 | Peripheral Nervous System Diseases | 1 | CTD_human |
| Tgene | C0410179 | Ullrich congenital muscular dystrophy 1 | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
| Tgene | C1834674 | BETHLEM MYOPATHY 1 | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
| Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
| Tgene | C0029408 | Degenerative polyarthritis | 1 | CTD_human | |
| Tgene | C0086743 | Osteoarthrosis Deformans | 1 | CTD_human | |
| Tgene | C1611706 | Myosclerosis | 1 | ORPHANET | |
| Tgene | C1850671 | Myosclerosis, Autosomal Recessive | 1 | CTD_human;GENOMICS_ENGLAND |
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