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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:CACNA1C-SH3GLB2 (FusionGDB2 ID:HG775TG56904)

Fusion Gene Summary for CACNA1C-SH3GLB2

check button Fusion gene summary
Fusion gene informationFusion gene name: CACNA1C-SH3GLB2
Fusion gene ID: hg775tg56904
HgeneTgene
Gene symbol

CACNA1C

SH3GLB2

Gene ID

775

56904

Gene namecalcium voltage-gated channel subunit alpha1 CSH3 domain containing GRB2 like, endophilin B2
SynonymsCACH2|CACN2|CACNL1A1|CCHL1A1|CaV1.2|LQT8|TS|TS. LQT8PP6569|PP9455|RRIG1
Cytomap('CACNA1C')('SH3GLB2')

12p13.33

9q34.11

Type of geneprotein-codingprotein-coding
Descriptionvoltage-dependent L-type calcium channel subunit alpha-1CDHPR, alpha-1 subunitcalcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac musclecalcium channel, cardic dihydropyridine-sensitive, alpha-1 subunitcalcium channel, voltage-dependent, endophilin-B2SH3 domain-containing GRB2-like protein B2SH3-containing protein SH3GLB2SH3-domain GRB2-like endophilin B2retinoid receptor-induced gene 1
Modification date2020031520200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000327702, ENST00000335762, 
ENST00000344100, ENST00000347598, 
ENST00000399591, ENST00000399595, 
ENST00000399597, ENST00000399601, 
ENST00000399603, ENST00000399606, 
ENST00000399617, ENST00000399621, 
ENST00000399629, ENST00000399634, 
ENST00000399637, ENST00000399638, 
ENST00000399641, ENST00000399644, 
ENST00000399649, ENST00000399655, 
ENST00000402845, ENST00000406454, 
ENST00000480911, ENST00000491104, 
Fusion gene scores* DoF score19 X 16 X 8=243217 X 26 X 2=884
# samples 1926
** MAII scorelog2(19/2432*10)=-3.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(26/884*10)=-1.76553474636298
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CACNA1C [Title/Abstract] AND SH3GLB2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCACNA1C(2532921)-SH3GLB2(131770783), # 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
HgeneCACNA1C

GO:0007204

positive regulation of cytosolic calcium ion concentration

12130699

HgeneCACNA1C

GO:0061577

calcium ion transmembrane transport via high voltage-gated calcium channel

15454078

HgeneCACNA1C

GO:0070588

calcium ion transmembrane transport

15454078



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 CACNA1C-SH3GLB2

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 CACNA1C-SH3GLB2


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 CACNA1C-SH3GLB2


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/:2532921/:131770783)
- 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 CACNA1C-SH3GLB2


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 CACNA1C-SH3GLB2


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 CACNA1C-SH3GLB2


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 CACNA1C-SH3GLB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCACNA1CC0005586Bipolar Disorder9CTD_human;PSYGENET
HgeneCACNA1CC1832916Timothy syndrome8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCACNA1CC1142166Brugada Syndrome (disorder)7CLINGEN;GENOMICS_ENGLAND
HgeneCACNA1CC1269683Major Depressive Disorder6CTD_human;PSYGENET
HgeneCACNA1CC0011570Mental Depression5PSYGENET
HgeneCACNA1CC0011581Depressive disorder5PSYGENET
HgeneCACNA1CC0041696Unipolar Depression5PSYGENET
HgeneCACNA1CC0525045Mood Disorders5PSYGENET
HgeneCACNA1CC2678478Brugada Syndrome 35CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCACNA1CC0005587Depression, Bipolar4CTD_human
HgeneCACNA1CC0024713Manic Disorder4CTD_human
HgeneCACNA1CC0036341Schizophrenia4PSYGENET
HgeneCACNA1CC0338831Manic4CTD_human
HgeneCACNA1CC0033975Psychotic Disorders3PSYGENET
HgeneCACNA1CC0178417Anhedonia2PSYGENET
HgeneCACNA1CC0002895Anemia, Sickle Cell1GENOMICS_ENGLAND
HgeneCACNA1CC0003257Antibody Deficiency Syndrome1CTD_human
HgeneCACNA1CC0003469Anxiety Disorders1CTD_human
HgeneCACNA1CC0003811Cardiac Arrhythmia1CTD_human
HgeneCACNA1CC0004352Autistic Disorder1CTD_human
HgeneCACNA1CC0007194Hypertrophic Cardiomyopathy1GENOMICS_ENGLAND
HgeneCACNA1CC0011574Involutional Depression1CTD_human
HgeneCACNA1CC0020538Hypertensive disease1CTD_human
HgeneCACNA1CC0020615Hypoglycemia1CTD_human
HgeneCACNA1CC0021051Immunologic Deficiency Syndromes1CTD_human
HgeneCACNA1CC0038441Stress Disorders, Traumatic1CTD_human
HgeneCACNA1CC0039070Syncope1GENOMICS_ENGLAND
HgeneCACNA1CC0085298Sudden Cardiac Death1GENOMICS_ENGLAND
HgeneCACNA1CC0151879Shortened QT interval1GENOMICS_ENGLAND
HgeneCACNA1CC0206762Limb Deformities, Congenital1CTD_human
HgeneCACNA1CC0234985Mental deterioration1CTD_human
HgeneCACNA1CC0271708Fasting Hypoglycemia1CTD_human
HgeneCACNA1CC0271710Reactive hypoglycemia1CTD_human
HgeneCACNA1CC0338656Impaired cognition1CTD_human
HgeneCACNA1CC0342788Renal carnitine transport defect1GENOMICS_ENGLAND
HgeneCACNA1CC0349204Nonorganic psychosis1PSYGENET
HgeneCACNA1CC0376280Anxiety States, Neurotic1CTD_human
HgeneCACNA1CC0392156Akathisia1CTD_human
HgeneCACNA1CC1270972Mild cognitive disorder1CTD_human
HgeneCACNA1CC1279420Anxiety neurosis (finding)1CTD_human
HgeneCACNA1CC1571983Involutional paraphrenia1CTD_human
HgeneCACNA1CC1571984Psychosis, Involutional1CTD_human
HgeneCACNA1CC3887612Psychomotor Agitation1CTD_human