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Fusion gene ID: 5172 |
FusionGeneSummary for CACNA1A_ZNF44 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CACNA1A_ZNF44 | Fusion gene ID: 5172 | Hgene | Tgene | Gene symbol | CACNA1A | ZNF44 | Gene ID | 773 | 51710 |
| Gene name | calcium voltage-gated channel subunit alpha1 A | zinc finger protein 44 | |
| Synonyms | APCA|BI|CACNL1A4|CAV2.1|EA2|EIEE42|FHM|HPCA|MHP|MHP1|SCA6 | GIOT-2|KOX7|ZNF|ZNF504|ZNF55|ZNF58 | |
| Cytomap | 19p13.13 | 19p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 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 | zinc finger protein 44gonadotropin inducible transcription repressor-2gonadotropin-inducible ovary transcription repressor 2zinc finger protein 55zinc finger protein 58zinc finger protein KOX7zinc finger protein ZnFP12 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | O00555 | P15621 | |
| Ensembl transtripts involved in fusion gene | ENST00000592864, ENST00000360228, ENST00000573710, ENST00000574822, | ENST00000597563, ENST00000426973, ENST00000356109, ENST00000355684, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: CACNA1A [Title/Abstract] AND ZNF44 [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 | CACNA1A | GO:0007204 | positive regulation of cytosolic calcium ion concentration | 10753886 |
| Hgene | CACNA1A | GO:0008219 | cell death | 16595610 |
| Hgene | CACNA1A | GO:0070588 | calcium ion transmembrane transport | 24836863|26716990 |
| Hgene | CACNA1A | GO:1904645 | response to amyloid-beta | 18216187 |
| Hgene | 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 | RV | BRCA | TCGA-BH-A1FE-01A | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
| * 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-intron | ENST00000592864 | ENST00000597563 | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
| intron-intron | ENST00000592864 | ENST00000426973 | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
| intron-intron | ENST00000592864 | ENST00000356109 | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
| intron-intron | ENST00000592864 | ENST00000355684 | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
| 5CDS-intron | ENST00000360228 | ENST00000597563 | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
| 5CDS-intron | ENST00000360228 | ENST00000426973 | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
| 5CDS-intron | ENST00000360228 | ENST00000356109 | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
| 5CDS-intron | ENST00000360228 | ENST00000355684 | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
| 5CDS-intron | ENST00000573710 | ENST00000597563 | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
| 5CDS-intron | ENST00000573710 | ENST00000426973 | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
| 5CDS-intron | ENST00000573710 | ENST00000356109 | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
| 5CDS-intron | ENST00000573710 | ENST00000355684 | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
| intron-intron | ENST00000574822 | ENST00000597563 | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
| intron-intron | ENST00000574822 | ENST00000426973 | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
| intron-intron | ENST00000574822 | ENST00000356109 | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
| intron-intron | ENST00000574822 | ENST00000355684 | CACNA1A | chr19 | 13394081 | - | ZNF44 | chr19 | 12359493 | - |
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FusionProtFeatures for CACNA1A_ZNF44 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CACNA1A | ZNF44 |