Fusion gene information | Fusion gene name: ATG5-CACNA2D1 |
Fusion gene ID: hg9474tg781 | | Hgene | Tgene | Gene symbol | ATG5 | CACNA2D1 | Gene ID | 9474 | 781 | Gene name | autophagy related 5 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 |
Synonyms | APG5|APG5-LIKE|APG5L|ASP|SCAR25|hAPG5 | CACNA2|CACNL2A|CCHL2A|LINC01112|lncRNA-N3 |
Cytomap | ('ATG5')('CACNA2D1') 6q21 | 7q21.11 |
Type of gene | protein-coding | protein-coding |
Description | autophagy protein 5APG5 autophagy 5-likeATG5 autophagy related 5 homologapoptosis-specific protein | voltage-dependent calcium channel subunit alpha-2/delta-1calcium channel, L type, alpha 2 polypeptidecalcium channel, voltage-dependent, alpha 2/delta subunit 1dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunitvoltage-gated calciu |
Modification date | 20200313 | 20200313 |
UniProtAcc | . | . |
Ensembl transtripts involved in fusion gene | ENST00000343245, ENST00000360666, ENST00000369070, ENST00000369076, ENST00000475645, | |
Fusion gene scores | * DoF score | 25 X 16 X 9=3600 | 7 X 10 X 3=210 |
# samples | 29 | 10 |
** MAII score | log2(29/3600*10)=-3.6338721012021 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/210*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: ATG5 [Title/Abstract] AND CACNA2D1 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | ATG5(106671170)-CACNA2D1(82026984), # samples:1
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Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ATG5 | C0002871 | Anemia | 1 | CTD_human |
Hgene | ATG5 | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
Hgene | ATG5 | C0019209 | Hepatomegaly | 1 | CTD_human |
Hgene | ATG5 | C0023380 | Lethargy | 1 | CTD_human |
Hgene | ATG5 | C0024312 | Lymphopenia | 1 | CTD_human |
Hgene | ATG5 | C0027540 | Necrosis | 1 | CTD_human |
Hgene | ATG5 | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
Hgene | ATG5 | C0919267 | ovarian neoplasm | 1 | CTD_human |
Hgene | ATG5 | C1140680 | Malignant neoplasm of ovary | 1 | CTD_human |
Hgene | ATG5 | C1262477 | Weight decreased | 1 | CTD_human |
Hgene | ATG5 | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
Hgene | ATG5 | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
Hgene | ATG5 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Hgene | ATG5 | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
Hgene | ATG5 | C4539808 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 | 1 | UNIPROT |
Tgene | | C1142166 | Brugada Syndrome (disorder) | 6 | CLINGEN;GENOMICS_ENGLAND;ORPHANET |
Tgene | | C0027796 | Neuralgia | 4 | CTD_human |
Tgene | | C0038870 | Neuralgia, Supraorbital | 4 | CTD_human |
Tgene | | C0042656 | Neuralgia, Vidian | 4 | CTD_human |
Tgene | | C0234247 | Neuralgia, Atypical | 4 | CTD_human |
Tgene | | C0234249 | Neuralgia, Stump | 4 | CTD_human |
Tgene | | C0264893 | Nodal rhythm disorder | 4 | CLINGEN |
Tgene | | C0348626 | Other specified cardiac arrhythmias | 4 | CLINGEN |
Tgene | | C0423711 | Neuralgia, Perineal | 4 | CTD_human |
Tgene | | C0423712 | Neuralgia, Iliohypogastric Nerve | 4 | CTD_human |
Tgene | | C0428908 | Sinus Node Dysfunction (disorder) | 4 | CLINGEN |
Tgene | | C0751371 | Neuralgia, Ilioinguinal | 4 | CTD_human |
Tgene | | C0751372 | Nerve Pain | 4 | CTD_human |
Tgene | | C0751373 | Paroxysmal Nerve Pain | 4 | CTD_human |
Tgene | | C1399226 | Ectopic rhythm | 4 | CLINGEN |
Tgene | | C2748542 | CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) | 4 | CLINGEN |
Tgene | | C4551804 | Brugada Syndrome 1 | 4 | CLINGEN |
Tgene | | C0020429 | Hyperalgesia | 3 | CTD_human |
Tgene | | C0458247 | Allodynia | 3 | CTD_human |
Tgene | | C0751211 | Hyperalgesia, Primary | 3 | CTD_human |
Tgene | | C0751212 | Hyperalgesia, Secondary | 3 | CTD_human |
Tgene | | C0751213 | Tactile Allodynia | 3 | CTD_human |
Tgene | | C0751214 | Hyperalgesia, Thermal | 3 | CTD_human |
Tgene | | C2936719 | Mechanical Allodynia | 3 | CTD_human |
Tgene | | C0003811 | Cardiac Arrhythmia | 1 | GENOMICS_ENGLAND |
Tgene | | C0007102 | Malignant tumor of colon | 1 | CTD_human |
Tgene | | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Tgene | | C0011071 | Sudden death | 1 | GENOMICS_ENGLAND |
Tgene | | C0020538 | Hypertensive disease | 1 | CTD_human |
Tgene | | C0030193 | Pain | 1 | CTD_human |
Tgene | | C0151879 | Shortened QT interval | 1 | GENOMICS_ENGLAND |
Tgene | | C0234230 | Pain, Burning | 1 | CTD_human |
Tgene | | C0234238 | Ache | 1 | CTD_human |
Tgene | | C0234254 | Radiating pain | 1 | CTD_human |
Tgene | | C0458257 | Pain, Splitting | 1 | CTD_human |
Tgene | | C0458259 | Pain, Crushing | 1 | CTD_human |
Tgene | | C0751407 | Pain, Migratory | 1 | CTD_human |
Tgene | | C0751408 | Suffering, Physical | 1 | CTD_human |
Tgene | | C1865020 | Short QT Syndrome 1 | 1 | ORPHANET |