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Fusion gene ID: 34937 |
FusionGeneSummary for SMIM7_CACNA1A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMIM7_CACNA1A | Fusion gene ID: 34937 | Hgene | Tgene | Gene symbol | SMIM7 | CACNA1A | Gene ID | 79086 | 773 |
| Gene name | small integral membrane protein 7 | calcium voltage-gated channel subunit alpha1 A | |
| Synonyms | C19orf42 | APCA|BI|CACNL1A4|CAV2.1|EA2|EIEE42|FHM|HPCA|MHP|MHP1|SCA6 | |
| Cytomap | 19p13.11 | 19p13.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | small integral membrane protein 7UPF0608 protein C19orf42 | voltage-dependent P/Q-type calcium channel subunit alpha-1Abrain calcium channel 1brain calcium channel Icalcium channel, L type, alpha-1 polypeptidecalcium channel, voltage-dependent, P/Q type, alpha 1A subunitfetal brain Ca2+ voltage-gated channel | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9BQ49 | O00555 | |
| Ensembl transtripts involved in fusion gene | ENST00000487416, ENST00000597711, ENST00000397349, ENST00000358726, | ENST00000592864, ENST00000360228, ENST00000573710, ENST00000574822, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 9 X 8 X 8=576 |
| # samples | 2 | 10 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(10/576*10)=-2.52606881166759 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SMIM7 [Title/Abstract] AND CACNA1A [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 | CACNA1A | GO:0007204 | positive regulation of cytosolic calcium ion concentration | 10753886 |
| Tgene | CACNA1A | GO:0008219 | cell death | 16595610 |
| Tgene | CACNA1A | GO:0070588 | calcium ion transmembrane transport | 24836863|26716990 |
| Tgene | CACNA1A | GO:1904645 | response to amyloid-beta | 18216187 |
| Tgene | CACNA1A | GO:1904646 | cellular response to amyloid-beta | 21883149 |
| 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 | LD | BLCA | TCGA-ZF-AA5H-01A | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
| * 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 |
| 5CDS-intron | ENST00000487416 | ENST00000592864 | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
| 5CDS-intron | ENST00000487416 | ENST00000360228 | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
| 5CDS-intron | ENST00000487416 | ENST00000573710 | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
| 5CDS-intron | ENST00000487416 | ENST00000574822 | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
| 5CDS-intron | ENST00000597711 | ENST00000592864 | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
| 5CDS-intron | ENST00000597711 | ENST00000360228 | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
| 5CDS-intron | ENST00000597711 | ENST00000573710 | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
| 5CDS-intron | ENST00000597711 | ENST00000574822 | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
| 5UTR-intron | ENST00000397349 | ENST00000592864 | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
| 5UTR-intron | ENST00000397349 | ENST00000360228 | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
| 5UTR-intron | ENST00000397349 | ENST00000573710 | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
| 5UTR-intron | ENST00000397349 | ENST00000574822 | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
| 5CDS-intron | ENST00000358726 | ENST00000592864 | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
| 5CDS-intron | ENST00000358726 | ENST00000360228 | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
| 5CDS-intron | ENST00000358726 | ENST00000573710 | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
| 5CDS-intron | ENST00000358726 | ENST00000574822 | SMIM7 | chr19 | 16770206 | - | CACNA1A | chr19 | 13366073 | - |
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FusionProtFeatures for SMIM7_CACNA1A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMIM7 | CACNA1A |
| 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 SMIM7_CACNA1A |
| 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 SMIM7_CACNA1A |
| 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 |
| SMIM7 | ELAVL1 | CACNA1A | CABP1, CACNB4, SYT1, KDM5B, BCL6, ABCA2, ABI1, ACTN1, AGRN, ALDOA, AMIGO2, AP2M1, ARHGAP22, ASNA1, BTG3, BZRAP1, C1QTNF1, CALM2, CALM3, CKAP5, CRIM1, CRMP1, CSNK2B, DNAJB5, EFEMP1, EFEMP2, EHMT2, EIF3A, FBLN1, GOLGA6L5P, GRN, HHATL, HECW1, HIVEP1, HSPG2, IP6K1, JAG2, KALRN, KHDRBS3, TELO2, KIAA1191, SRRM4, LAMB1, LLGL1, LPHN1, LRP1, LTBP1, LTBP3, LTBP4, MANBAL, MATK, MATN2, MEGF6, MEGF8, CYSRT1, MIA3, MOAP1, NDUFB8, NELL1, NELL2, NOTCH1, NOXA1, OLIG1, PCSK5, PCSK6, PMM1, PPIG, PPP1R12C, PTGDS, RBM12B, RIMBP2, RPL31, RPS17, SCP2, SRSF1, PUF60, SPRY1, SUMF2, TAF15, NELFCD, TSC22D1, TSPAN7, TUBB2B, UQCRC2, VARS, VPS52, VWF, WBP1, YLPM1, ZCCHC17, ZNF233, GNB2, KLHL1, REV3L, TCTN2, TCTN3, UBE2L3, MAP1B |
| - 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 SMIM7_CACNA1A |
| 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 | CACNA1A | O00555 | DB00661 | Verapamil | Voltage-dependent P/Q-type calcium channel subunit alpha-1A | small molecule | approved |
| Tgene | CACNA1A | O00555 | DB00836 | Loperamide | Voltage-dependent P/Q-type calcium channel subunit alpha-1A | small molecule | approved |
| Tgene | CACNA1A | O00555 | DB00230 | Pregabalin | Voltage-dependent P/Q-type calcium channel subunit alpha-1A | small molecule | approved|illicit|investigational |
| Tgene | CACNA1A | O00555 | DB01244 | Bepridil | Voltage-dependent P/Q-type calcium channel subunit alpha-1A | small molecule | approved|withdrawn |
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RelatedDiseases for SMIM7_CACNA1A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CACNA1A | C1720416 | Episodic ataxia type 2 (disorder) | 13 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CACNA1A | C1832884 | Hemiplegic migraine, familial type 1 | 9 | CTD_human;UNIPROT |
| Tgene | CACNA1A | C0087012 | Ataxia, Spinocerebellar | 2 | CTD_human |
| Tgene | CACNA1A | C0752124 | Spinocerebellar Ataxia Type 6 (disorder) | 2 | ORPHANET;UNIPROT |
| Tgene | CACNA1A | C0004134 | Ataxia | 1 | CTD_human |
| Tgene | CACNA1A | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | CACNA1A | C0014553 | Absence Epilepsy | 1 | CTD_human |
| Tgene | CACNA1A | C0206368 | Exfoliation Syndrome | 1 | CTD_human |
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