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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:CACNG5-PRKCA (FusionGDB2 ID:12467)

Fusion Gene Summary for CACNG5-PRKCA

check button Fusion gene summary
Fusion gene informationFusion gene name: CACNG5-PRKCA
Fusion gene ID: 12467
HgeneTgene
Gene symbol

CACNG5

PRKCA

Gene ID

27091

5578

Gene namecalcium voltage-gated channel auxiliary subunit gamma 5protein kinase C alpha
Synonyms-AAG6|PKC-alpha|PKCA|PKCI+/-|PKCalpha|PRKACA
Cytomap

17q24.2

17q24.2

Type of geneprotein-codingprotein-coding
Descriptionvoltage-dependent calcium channel gamma-5 subunitTARP gamma-5calcium channel, voltage-dependent, gamma subunit 5neuronal voltage-gated calcium channel gamma-5 subunittransmembrane AMPAR regulatory protein gamma-5protein kinase C alpha typePKC-Aaging-associated gene 6
Modification date2020031320200327
UniProtAcc.

PICK1

Ensembl transtripts involved in fusion geneENST00000533854, ENST00000169565, 
ENST00000307139, 
ENST00000413366, 
ENST00000583361, 
Fusion gene scores* DoF score2 X 2 X 2=826 X 21 X 9=4914
# samples 229
** MAII scorelog2(2/8*10)=1.32192809488736log2(29/4914*10)=-4.08277305234723
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CACNG5 [Title/Abstract] AND PRKCA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCACNG5(64831368)-PRKCA(64770105), # samples:2
PRKCA(64302245)-CACNG5(64873348), # samples:2
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
TgenePRKCA

GO:0006468

protein phosphorylation

10770950

TgenePRKCA

GO:0035408

histone H3-T6 phosphorylation

20228790

TgenePRKCA

GO:0043536

positive regulation of blood vessel endothelial cell migration

20011604

TgenePRKCA

GO:0090330

regulation of platelet aggregation

12724315


check buttonFusion gene breakpoints across CACNG5 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across PRKCA (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4UCECTCGA-D1-A3DH-01ACACNG5chr17

64831368

+PRKCAchr17

64770105

+
ChimerDB4UCECTCGA-D1-A3DH-01ACACNG5chr17

64831368

+PRKCAchr17

64770105

+


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Fusion Gene ORF analysis for CACNG5-PRKCA

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
5UTR-3CDSENST00000533854ENST00000413366CACNG5chr17

64831368

+PRKCAchr17

64770105

+
5UTR-intronENST00000533854ENST00000583361CACNG5chr17

64831368

+PRKCAchr17

64770105

+
intron-3CDSENST00000169565ENST00000413366CACNG5chr17

64831368

+PRKCAchr17

64770105

+
intron-intronENST00000169565ENST00000583361CACNG5chr17

64831368

+PRKCAchr17

64770105

+
intron-3CDSENST00000307139ENST00000413366CACNG5chr17

64831368

+PRKCAchr17

64770105

+
intron-intronENST00000307139ENST00000583361CACNG5chr17

64831368

+PRKCAchr17

64770105

+

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 CACNG5-PRKCA


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)
CACNG5chr1764831368+PRKCAchr1764770104+3.97E-070.99999964
CACNG5chr1764831368+PRKCAchr1764770104+3.97E-070.99999964

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for CACNG5-PRKCA


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

PICK1

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.415

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 CACNG5-PRKCA


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 CACNG5-PRKCA


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 CACNG5-PRKCA


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 CACNG5-PRKCA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCACNG5C0005586Bipolar Disorder1PSYGENET
HgeneCACNG5C0036341Schizophrenia1PSYGENET
TgenePRKCAC0036341Schizophrenia2PSYGENET
TgenePRKCAC0002152Alloxan Diabetes1CTD_human
TgenePRKCAC0011853Diabetes Mellitus, Experimental1CTD_human
TgenePRKCAC0018800Cardiomegaly1CTD_human
TgenePRKCAC0021841Intestinal Neoplasms1CTD_human
TgenePRKCAC0032617Polyuria1CTD_human
TgenePRKCAC0033975Psychotic Disorders1PSYGENET
TgenePRKCAC0036337Schizoaffective Disorder1PSYGENET
TgenePRKCAC0038433Streptozotocin Diabetes1CTD_human
TgenePRKCAC0162283Nephrogenic Diabetes Insipidus1CTD_human
TgenePRKCAC0264423Asthma, Occupational1CTD_human
TgenePRKCAC0268443Acquired Nephrogenic Diabetes Insipidus1CTD_human
TgenePRKCAC0346627Intestinal Cancer1CTD_human
TgenePRKCAC0349204Nonorganic psychosis1PSYGENET
TgenePRKCAC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgenePRKCAC0677501Congenital Nephrogenic Diabetes Insipidus1CTD_human
TgenePRKCAC1383860Cardiac Hypertrophy1CTD_human
TgenePRKCAC1563705Nephrogenic Diabetes Insipidus, Type I1CTD_human
TgenePRKCAC1563706Nephrogenic Diabetes Insipidus, Type II1CTD_human
TgenePRKCAC3241937Nonalcoholic Steatohepatitis1CTD_human
TgenePRKCAC3542500ADH-Resistant Diabetes Insipidus1CTD_human