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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ATG5-CACNA2D1 (FusionGDB2 ID:HG9474TG781)

Fusion Gene Summary for ATG5-CACNA2D1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATG5-CACNA2D1
Fusion gene ID: hg9474tg781
HgeneTgene
Gene symbol

ATG5

CACNA2D1

Gene ID

9474

781

Gene nameautophagy related 5calcium voltage-gated channel auxiliary subunit alpha2delta 1
SynonymsAPG5|APG5-LIKE|APG5L|ASP|SCAR25|hAPG5CACNA2|CACNL2A|CCHL2A|LINC01112|lncRNA-N3
Cytomap('ATG5')('CACNA2D1')

6q21

7q21.11

Type of geneprotein-codingprotein-coding
Descriptionautophagy protein 5APG5 autophagy 5-likeATG5 autophagy related 5 homologapoptosis-specific proteinvoltage-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 date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000343245, ENST00000360666, 
ENST00000369070, ENST00000369076, 
ENST00000475645, 
Fusion gene scores* DoF score25 X 16 X 9=36007 X 10 X 3=210
# samples 2910
** MAII scorelog2(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 breakpointATG5(106671170)-CACNA2D1(82026984), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneCACNA2D1

GO:0006816

calcium ion transport

1309651|11160515

TgeneCACNA2D1

GO:0051924

regulation of calcium ion transport

1309651



check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand


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Fusion Gene ORF analysis for ATG5-CACNA2D1

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for ATG5-CACNA2D1


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for ATG5-CACNA2D1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:106671170/:82026984)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
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}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for ATG5-CACNA2D1


check button 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 ATG5-CACNA2D1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for ATG5-CACNA2D1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ATG5-CACNA2D1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATG5C0002871Anemia1CTD_human
HgeneATG5C0019193Hepatitis, Toxic1CTD_human
HgeneATG5C0019209Hepatomegaly1CTD_human
HgeneATG5C0023380Lethargy1CTD_human
HgeneATG5C0024312Lymphopenia1CTD_human
HgeneATG5C0027540Necrosis1CTD_human
HgeneATG5C0860207Drug-Induced Liver Disease1CTD_human
HgeneATG5C0919267ovarian neoplasm1CTD_human
HgeneATG5C1140680Malignant neoplasm of ovary1CTD_human
HgeneATG5C1262477Weight decreased1CTD_human
HgeneATG5C1262760Hepatitis, Drug-Induced1CTD_human
HgeneATG5C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneATG5C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneATG5C4279912Chemically-Induced Liver Toxicity1CTD_human
HgeneATG5C4539808SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 251UNIPROT
TgeneC1142166Brugada Syndrome (disorder)6CLINGEN;GENOMICS_ENGLAND;ORPHANET
TgeneC0027796Neuralgia4CTD_human
TgeneC0038870Neuralgia, Supraorbital4CTD_human
TgeneC0042656Neuralgia, Vidian4CTD_human
TgeneC0234247Neuralgia, Atypical4CTD_human
TgeneC0234249Neuralgia, Stump4CTD_human
TgeneC0264893Nodal rhythm disorder4CLINGEN
TgeneC0348626Other specified cardiac arrhythmias4CLINGEN
TgeneC0423711Neuralgia, Perineal4CTD_human
TgeneC0423712Neuralgia, Iliohypogastric Nerve4CTD_human
TgeneC0428908Sinus Node Dysfunction (disorder)4CLINGEN
TgeneC0751371Neuralgia, Ilioinguinal4CTD_human
TgeneC0751372Nerve Pain4CTD_human
TgeneC0751373Paroxysmal Nerve Pain4CTD_human
TgeneC1399226Ectopic rhythm4CLINGEN
TgeneC2748542CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)4CLINGEN
TgeneC4551804Brugada Syndrome 14CLINGEN
TgeneC0020429Hyperalgesia3CTD_human
TgeneC0458247Allodynia3CTD_human
TgeneC0751211Hyperalgesia, Primary3CTD_human
TgeneC0751212Hyperalgesia, Secondary3CTD_human
TgeneC0751213Tactile Allodynia3CTD_human
TgeneC0751214Hyperalgesia, Thermal3CTD_human
TgeneC2936719Mechanical Allodynia3CTD_human
TgeneC0003811Cardiac Arrhythmia1GENOMICS_ENGLAND
TgeneC0007102Malignant tumor of colon1CTD_human
TgeneC0009375Colonic Neoplasms1CTD_human
TgeneC0011071Sudden death1GENOMICS_ENGLAND
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0030193Pain1CTD_human
TgeneC0151879Shortened QT interval1GENOMICS_ENGLAND
TgeneC0234230Pain, Burning1CTD_human
TgeneC0234238Ache1CTD_human
TgeneC0234254Radiating pain1CTD_human
TgeneC0458257Pain, Splitting1CTD_human
TgeneC0458259Pain, Crushing1CTD_human
TgeneC0751407Pain, Migratory1CTD_human
TgeneC0751408Suffering, Physical1CTD_human
TgeneC1865020Short QT Syndrome 11ORPHANET