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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 5170

FusionGeneSummary for CACNA1A_DNAJC13

check button Fusion gene summary
Fusion gene informationFusion gene name: CACNA1A_DNAJC13
Fusion gene ID: 5170
HgeneTgene
Gene symbol

CACNA1A

DNAJC13

Gene ID

773

23317

Gene namecalcium voltage-gated channel subunit alpha1 ADnaJ heat shock protein family (Hsp40) member C13
SynonymsAPCA|BI|CACNL1A4|CAV2.1|EA2|EIEE42|FHM|HPCA|MHP|MHP1|SCA6PARK21|RME8
Cytomap

19p13.13

3q22.1

Type of geneprotein-codingprotein-coding
Descriptionvoltage-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 dnaJ homolog subfamily C member 13DnaJ (Hsp40) homolog, subfamily C, member 13DnaJ domain-containing protein RME-8required for receptor-mediated endocytosis 8
Modification date2018052320180523
UniProtAcc

O00555

O75165

Ensembl transtripts involved in fusion geneENST00000592864, ENST00000360228, 
ENST00000573710, ENST00000574822, 
ENST00000260818, ENST00000486798, 
Fusion gene scores* DoF score3 X 3 X 3=272 X 2 X 2=8
# samples 32
** MAII scorelog2(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 DNAJC13 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCACNA1A

GO:0007204

positive regulation of cytosolic calcium ion concentration

10753886

HgeneCACNA1A

GO:0008219

cell death

16595610

HgeneCACNA1A

GO:0070588

calcium ion transmembrane transport

24836863|26716990

HgeneCACNA1A

GO:1904645

response to amyloid-beta

18216187

HgeneCACNA1A

GO:1904646

cellular response to amyloid-beta

21883149


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AA772930CACNA1Achr19

13318845

-DNAJC13chr3

132235269

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-3CDSENST00000592864ENST00000260818CACNA1Achr19

13318845

-DNAJC13chr3

132235269

+
intron-intronENST00000592864ENST00000486798CACNA1Achr19

13318845

-DNAJC13chr3

132235269

+
intron-3CDSENST00000360228ENST00000260818CACNA1Achr19

13318845

-DNAJC13chr3

132235269

+
intron-intronENST00000360228ENST00000486798CACNA1Achr19

13318845

-DNAJC13chr3

132235269

+
intron-3CDSENST00000573710ENST00000260818CACNA1Achr19

13318845

-DNAJC13chr3

132235269

+
intron-intronENST00000573710ENST00000486798CACNA1Achr19

13318845

-DNAJC13chr3

132235269

+
intron-3CDSENST00000574822ENST00000260818CACNA1Achr19

13318845

-DNAJC13chr3

132235269

+
intron-intronENST00000574822ENST00000486798CACNA1Achr19

13318845

-DNAJC13chr3

132235269

+

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FusionProtFeatures for CACNA1A_DNAJC13


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CACNA1A

O00555

DNAJC13

O75165


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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FusionGeneSequence for CACNA1A_DNAJC13


check button 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 CACNA1A_DNAJC13


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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RelatedDrugs for CACNA1A_DNAJC13


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCACNA1AO00555DB00661VerapamilVoltage-dependent P/Q-type calcium channel subunit alpha-1Asmall moleculeapproved
HgeneCACNA1AO00555DB00836LoperamideVoltage-dependent P/Q-type calcium channel subunit alpha-1Asmall moleculeapproved
HgeneCACNA1AO00555DB00230PregabalinVoltage-dependent P/Q-type calcium channel subunit alpha-1Asmall moleculeapproved|illicit|investigational
HgeneCACNA1AO00555DB01244BepridilVoltage-dependent P/Q-type calcium channel subunit alpha-1Asmall moleculeapproved|withdrawn

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RelatedDiseases for CACNA1A_DNAJC13


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCACNA1AC1720416Episodic ataxia type 2 (disorder)13CTD_human;ORPHANET;UNIPROT
HgeneCACNA1AC1832884Hemiplegic migraine, familial type 19CTD_human;UNIPROT
HgeneCACNA1AC0087012Ataxia, Spinocerebellar2CTD_human
HgeneCACNA1AC0752124Spinocerebellar Ataxia Type 6 (disorder)2ORPHANET;UNIPROT
HgeneCACNA1AC0004134Ataxia1CTD_human
HgeneCACNA1AC0005586Bipolar Disorder1PSYGENET
HgeneCACNA1AC0014553Absence Epilepsy1CTD_human
HgeneCACNA1AC0206368Exfoliation Syndrome1CTD_human