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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:CALM1-GLRA2 (FusionGDB2 ID:HG801TG2742)

Fusion Gene Summary for CALM1-GLRA2

check button Fusion gene summary
Fusion gene informationFusion gene name: CALM1-GLRA2
Fusion gene ID: hg801tg2742
HgeneTgene
Gene symbol

CALM1

GLRA2

Gene ID

801

2742

Gene namecalmodulin 1glycine receptor alpha 2
SynonymsCALML2|CAM2|CAM3|CAMB|CAMC|CAMI|CAMIII|CPVT4|DD132|LQT14|PHKD|caMGLR
Cytomap('CALM1')('GLRA2')

14q32.11

Xp22.2

Type of geneprotein-codingprotein-coding
Descriptioncalmodulin-1Calmodulin-2Calmodulin-3calmodulin 1 (phosphorylase kinase, delta)phosphorylase kinase subunit deltaphosphorylase kinase, delta subunitprepro-calmodulin 1glycine receptor subunit alpha-2glycine receptor alpha 2 subunitglycine receptor, alpha-2 polypeptide
Modification date2020032920200313
UniProtAcc.

P23416

Ensembl transtripts involved in fusion geneENST00000356978, ENST00000447653, 
ENST00000544280, ENST00000553542, 
ENST00000555132, 
Fusion gene scores* DoF score13 X 13 X 3=5072 X 2 X 2=8
# samples 152
** MAII scorelog2(15/507*10)=-1.75702324650746
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: CALM1 [Title/Abstract] AND GLRA2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCALM1(90871954)-GLRA2(14624268), # 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
HgeneCALM1

GO:0010880

regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum

20226167

HgeneCALM1

GO:0032516

positive regulation of phosphoprotein phosphatase activity

8631777

HgeneCALM1

GO:0035307

positive regulation of protein dephosphorylation

8631777

HgeneCALM1

GO:0051343

positive regulation of cyclic-nucleotide phosphodiesterase activity

8631777

HgeneCALM1

GO:0051592

response to calcium ion

7607248

HgeneCALM1

GO:0060314

regulation of ryanodine-sensitive calcium-release channel activity

22067155

HgeneCALM1

GO:0060315

negative regulation of ryanodine-sensitive calcium-release channel activity

26164367

HgeneCALM1

GO:0060316

positive regulation of ryanodine-sensitive calcium-release channel activity

20226167

TgeneGLRA2

GO:0007218

neuropeptide signaling pathway

2155780

TgeneGLRA2

GO:0034220

ion transmembrane transport

2155780

TgeneGLRA2

GO:0071230

cellular response to amino acid stimulus

2155780

TgeneGLRA2

GO:0071294

cellular response to zinc ion

23895467

TgeneGLRA2

GO:0071361

cellular response to ethanol

23895467

TgeneGLRA2

GO:1902476

chloride transmembrane transport

23895467



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 CALM1-GLRA2

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 CALM1-GLRA2


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 CALM1-GLRA2


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/:90871954/:14624268)
- 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
.GLRA2

P23416

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: Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed:2155780, PubMed:15302677, PubMed:16144831, PubMed:23895467, PubMed:25445488). Channel opening is also triggered by taurine and beta-alanine (PubMed:15302677). Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents (PubMed:25445488). Plays a role in cellular responses to ethanol (PubMed:23895467). {ECO:0000269|PubMed:15302677, ECO:0000269|PubMed:16144831, ECO:0000269|PubMed:2155780, ECO:0000269|PubMed:23895467, ECO:0000269|PubMed:25445488}.

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 CALM1-GLRA2


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 CALM1-GLRA2


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 CALM1-GLRA2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGLRA2P23416DB00898EthanolAgonistSmall moleculeApproved
TgeneGLRA2P23416DB01956TaurineAgonistSmall moleculeApproved|Nutraceutical
TgeneGLRA2P23416DB00145GlycineLigandSmall moleculeApproved|Nutraceutical|Vet_approved
TgeneGLRA2P23416DB00431LindaneAntagonistSmall moleculeApproved|Withdrawn

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Related Diseases for CALM1-GLRA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCALM1C4015671LONG QT SYNDROME 147CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCALM1C3554047VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 46GENOMICS_ENGLAND;UNIPROT
HgeneCALM1C0035828Romano-Ward Syndrome2ORPHANET
HgeneCALM1C1631597VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneCALM1C0002395Alzheimer's Disease1CTD_human
HgeneCALM1C0006868Cannabis Abuse1CTD_human
HgeneCALM1C0006870Cannabis Dependence1CTD_human
HgeneCALM1C0009171Cocaine Abuse1CTD_human
HgeneCALM1C0011265Presenile dementia1CTD_human
HgeneCALM1C0018614Hashish Abuse1CTD_human
HgeneCALM1C0024809Marijuana Abuse1CTD_human
HgeneCALM1C0031391Phencyclidine Abuse1CTD_human
HgeneCALM1C0043094Weight Gain1CTD_human
HgeneCALM1C0236735Cannabis-Related Disorder1CTD_human
HgeneCALM1C0236736Cocaine-Related Disorders1CTD_human
HgeneCALM1C0236742Phencyclidine-Related Disorders1CTD_human
HgeneCALM1C0276496Familial Alzheimer Disease (FAD)1CTD_human
HgeneCALM1C0494463Alzheimer Disease, Late Onset1CTD_human
HgeneCALM1C0546126Acute Confusional Senile Dementia1CTD_human
HgeneCALM1C0600427Cocaine Dependence1CTD_human
HgeneCALM1C0750900Alzheimer's Disease, Focal Onset1CTD_human
HgeneCALM1C0750901Alzheimer Disease, Early Onset1CTD_human
TgeneC1510586Autism Spectrum Disorders1GENOMICS_ENGLAND