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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:GRM5-RCBTB1 (FusionGDB2 ID:HG2915TG55213)

Fusion Gene Summary for GRM5-RCBTB1

check button Fusion gene summary
Fusion gene informationFusion gene name: GRM5-RCBTB1
Fusion gene ID: hg2915tg55213
HgeneTgene
Gene symbol

GRM5

RCBTB1

Gene ID

2915

55213

Gene nameglutamate metabotropic receptor 5RCC1 and BTB domain containing protein 1
SynonymsGPRC1E|MGLUR5|PPP1R86|mGlu5CLLD7|CLLL7|GLP|RDEOA
Cytomap('GRM5')('RCBTB1')

11q14.2-q14.3

13q14.2

Type of geneprotein-codingprotein-coding
Descriptionmetabotropic glutamate receptor 5glutamate receptor, metabotropic 5protein phosphatase 1, regulatory subunit 86RCC1 and BTB domain-containing protein 1CLL deletion region gene 7 proteinGDP/GTP exchange factor (GEF)-like proteinchronic lymphocytic leukemia deletion region gene 7 proteinregulator of chromosome condensation (RCC1) and BTB (POZ) domain containing
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000305432, ENST00000305447, 
ENST00000393294, ENST00000393297, 
ENST00000418177, ENST00000455756, 
Fusion gene scores* DoF score9 X 9 X 2=1626 X 6 X 2=72
# samples 96
** MAII scorelog2(9/162*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GRM5 [Title/Abstract] AND RCBTB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGRM5(88422470)-RCBTB1(50106403), # 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


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 GRM5-RCBTB1

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 GRM5-RCBTB1


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 GRM5-RCBTB1


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/:88422470/:50106403)
- 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 GRM5-RCBTB1


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 GRM5-RCBTB1


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 GRM5-RCBTB1


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 GRM5-RCBTB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGRM5C0036341Schizophrenia3PSYGENET
HgeneGRM5C0041696Unipolar Depression3PSYGENET
HgeneGRM5C1269683Major Depressive Disorder3PSYGENET
HgeneGRM5C0038220Status Epilepticus2CTD_human
HgeneGRM5C0041671Attention Deficit Disorder2CTD_human
HgeneGRM5C0270823Petit mal status2CTD_human
HgeneGRM5C0311335Grand Mal Status Epilepticus2CTD_human
HgeneGRM5C0393734Complex Partial Status Epilepticus2CTD_human
HgeneGRM5C0751522Status Epilepticus, Subclinical2CTD_human
HgeneGRM5C0751523Non-Convulsive Status Epilepticus2CTD_human
HgeneGRM5C0751524Simple Partial Status Epilepticus2CTD_human
HgeneGRM5C1263846Attention deficit hyperactivity disorder2CTD_human
HgeneGRM5C1321905Minimal Brain Dysfunction2CTD_human
HgeneGRM5C0005586Bipolar Disorder1PSYGENET
HgeneGRM5C0009171Cocaine Abuse1CTD_human
HgeneGRM5C0011882Diabetic Neuropathies1CTD_human
HgeneGRM5C0013146Drug abuse1CTD_human
HgeneGRM5C0013170Drug habituation1CTD_human
HgeneGRM5C0013222Drug Use Disorders1CTD_human
HgeneGRM5C0014556Epilepsy, Temporal Lobe1CTD_human
HgeneGRM5C0014558Uncinate Epilepsy1CTD_human
HgeneGRM5C0027796Neuralgia1CTD_human
HgeneGRM5C0029231Organic Mental Disorders, Substance-Induced1CTD_human
HgeneGRM5C0038580Substance Dependence1CTD_human
HgeneGRM5C0038586Substance Use Disorders1CTD_human
HgeneGRM5C0038870Neuralgia, Supraorbital1CTD_human
HgeneGRM5C0042656Neuralgia, Vidian1CTD_human
HgeneGRM5C0234247Neuralgia, Atypical1CTD_human
HgeneGRM5C0234249Neuralgia, Stump1CTD_human
HgeneGRM5C0236736Cocaine-Related Disorders1CTD_human
HgeneGRM5C0236969Substance-Related Disorders1CTD_human
HgeneGRM5C0271673Symmetric Diabetic Proximal Motor Neuropathy1CTD_human
HgeneGRM5C0271674Asymmetric Diabetic Proximal Motor Neuropathy1CTD_human
HgeneGRM5C0271678Diabetic Mononeuropathy1CTD_human
HgeneGRM5C0271680Diabetic Polyneuropathies1CTD_human
HgeneGRM5C0271685Diabetic Amyotrophy1CTD_human
HgeneGRM5C0271686Diabetic Autonomic Neuropathy1CTD_human
HgeneGRM5C0393672Epilepsy, Benign Psychomotor, Childhood1CTD_human
HgeneGRM5C0393682Epilepsy, Lateral Temporal1CTD_human
HgeneGRM5C0393835Diabetic Asymmetric Polyneuropathy1CTD_human
HgeneGRM5C0423711Neuralgia, Perineal1CTD_human
HgeneGRM5C0423712Neuralgia, Iliohypogastric Nerve1CTD_human
HgeneGRM5C0600427Cocaine Dependence1CTD_human
HgeneGRM5C0740858Substance abuse problem1CTD_human
HgeneGRM5C0751074Diabetic Neuralgia1CTD_human
HgeneGRM5C0751371Neuralgia, Ilioinguinal1CTD_human
HgeneGRM5C0751372Nerve Pain1CTD_human
HgeneGRM5C0751373Paroxysmal Nerve Pain1CTD_human
HgeneGRM5C1510472Drug Dependence1CTD_human
HgeneGRM5C4316881Prescription Drug Abuse1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0154832Exudative retinopathy1GENOMICS_ENGLAND
TgeneC0339539Familial Exudative Vitreoretinopathy1GENOMICS_ENGLAND
TgeneC1867332Reticular Dystrophy Of Retinal Pigment Epithelium1ORPHANET
TgeneC4310680RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES1CTD_human;GENOMICS_ENGLAND;UNIPROT