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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:CHRM3-CASQ1 (FusionGDB2 ID:HG1131TG844)

Fusion Gene Summary for CHRM3-CASQ1

check button Fusion gene summary
Fusion gene informationFusion gene name: CHRM3-CASQ1
Fusion gene ID: hg1131tg844
HgeneTgene
Gene symbol

CHRM3

CASQ1

Gene ID

1131

844

Gene namecholinergic receptor muscarinic 3calsequestrin 1
SynonymsEGBRS|HM3|PBSCASQ|PDIB1|VMCQA
Cytomap('CHRM3')('CASQ1')

1q43

1q23.2

Type of geneprotein-codingprotein-coding
Descriptionmuscarinic acetylcholine receptor M3acetylcholine receptor, muscarinic 3m3 muscarinic receptorcalsequestrin-1calmitincalmitinecalsequestrin 1 (fast-twitch, skeletal muscle)calsequestrin, skeletal muscle isoform
Modification date2020032720200313
UniProtAcc

P20309

.
Ensembl transtripts involved in fusion geneENST00000468573, ENST00000255380, 
Fusion gene scores* DoF score12 X 12 X 7=10082 X 2 X 2=8
# samples 142
** MAII scorelog2(14/1008*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: CHRM3 [Title/Abstract] AND CASQ1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCHRM3(239990678)-CASQ1(160162592), # samples:3
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
TgeneCASQ1

GO:0051258

protein polymerization

22337878



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
ChimerDB4LUSCTCGA-46-3765-01ACHRM3chr1

239990678

-CASQ1chr1

160162592

+
ChimerDB4LUSCTCGA-46-3765-01ACHRM3chr1

239990678

+CASQ1chr1

160162592

+
ChimerDB4LUSCTCGA-46-3765CHRM3chr1

239990678

+CASQ1chr1

160162592

+


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Fusion Gene ORF analysis for CHRM3-CASQ1

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
3UTR-3CDSENST00000468573ENST00000368078CHRM3chr1

239990678

+CASQ1chr1

160162592

+
3UTR-3CDSENST00000468573ENST00000368079CHRM3chr1

239990678

+CASQ1chr1

160162592

+
3UTR-intronENST00000468573ENST00000467691CHRM3chr1

239990678

+CASQ1chr1

160162592

+
5UTR-3CDSENST00000255380ENST00000368078CHRM3chr1

239990678

+CASQ1chr1

160162592

+
5UTR-3CDSENST00000255380ENST00000368079CHRM3chr1

239990678

+CASQ1chr1

160162592

+
5UTR-intronENST00000255380ENST00000467691CHRM3chr1

239990678

+CASQ1chr1

160162592

+

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 CHRM3-CASQ1


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)
CHRM3chr1239990678+CASQ1chr1160162591+0.391755970.60824406
CHRM3chr1239990678+CASQ1chr1160162591+0.391755970.60824406
CHRM3chr1239990678+CASQ1chr1160162591+0.391755970.60824406
CHRM3chr1239990678+CASQ1chr1160162591+0.391755970.60824406


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.
genomic feature of top 1%

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Fusion Protein Features for CHRM3-CASQ1


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/:239990678/:160162592)
- 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
CHRM3

P20309

.
FUNCTION: The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover. {ECO:0000269|PubMed:7565628}.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 CHRM3-CASQ1


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 CHRM3-CASQ1


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 CHRM3-CASQ1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCHRM3P20309DB00185CevimelineAgonistSmall moleculeApproved
HgeneCHRM3P20309DB00202SuccinylcholineAgonistSmall moleculeApproved
HgeneCHRM3P20309DB00209TrospiumSmall moleculeApproved
HgeneCHRM3P20309DB00246ZiprasidoneAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB00280DisopyramideAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB00363ClozapineAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB00376TrihexyphenidylAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB00383OxyphencyclimineAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB00387ProcyclidineAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB00408LoxapineBinderSmall moleculeApproved
HgeneCHRM3P20309DB00411CarbamoylcholineSmall moleculeApproved
HgeneCHRM3P20309DB00424HyoscyamineAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB00434CyproheptadineAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB00458ImipramineAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB00462Methscopolamine bromideAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB00502HaloperidolSmall moleculeApproved
HgeneCHRM3P20309DB00517Anisotropine methylbromideAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB00725Homatropine methylbromideAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB00835BrompheniramineAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB01019BethanecholSmall moleculeApproved
HgeneCHRM3P20309DB01224QuetiapineAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB01226MivacuriumAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB01337PancuroniumAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB01338PipecuroniumAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB01409TiotropiumAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB01591SolifenacinAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB04843MepenzolateAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB06153PizotifenAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB06702FesoterodineAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB06787HexocycliumAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB08897AclidiniumAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB09076UmeclidiniumAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB09089TrimebutineAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB09167DosulepinAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB11181HomatropineAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB11235ThonzylamineAntagonistSmall moleculeApproved
HgeneCHRM3P20309DB00332IpratropiumAntagonistSmall moleculeApproved|Experimental
HgeneCHRM3P20309DB01239ChlorprothixeneAntagonistSmall moleculeApproved|Experimental|Investigational|Withdrawn
HgeneCHRM3P20309DB00193TramadolAntagonistSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB00334OlanzapineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB00496DarifenacinAntagonistSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB00622NicardipineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB00747ScopolamineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB00809TropicamideAntagonistSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB00934MaprotilineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB00940MethanthelineSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB01036TolterodineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB01062OxybutyninAntagonistSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB01069PromethazineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB01085PilocarpineAgonistSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB01142DoxepinAntagonistSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB01151DesipramineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB01238AripiprazoleLigandSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB01403MethotrimeprazineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB03128AcetylcholineSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB06709MethacholineAgonistSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB12278PropiverineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB14185Aripiprazole lauroxilSmall moleculeApproved|Investigational
HgeneCHRM3P20309DB00477ChlorpromazineAntagonistSmall moleculeApproved|Investigational|Vet_approved
HgeneCHRM3P20309DB00986GlycopyrroniumAntagonistSmall moleculeApproved|Investigational|Vet_approved
HgeneCHRM3P20309DB09300ButylscopolamineAntagonistSmall moleculeApproved|Investigational|Vet_approved
HgeneCHRM3P20309DB01231DiphenidolAntagonistSmall moleculeApproved|Investigational|Withdrawn
HgeneCHRM3P20309DB00572AtropineAntagonistSmall moleculeApproved|Vet_approved
HgeneCHRM3P20309DB00599ThiopentalSmall moleculeApproved|Vet_approved
HgeneCHRM3P20309DB01625IsopropamideAntagonistSmall moleculeApproved|Vet_approved
HgeneCHRM3P20309DB13720DiphemanilAntagonistSmall moleculeApproved|Vet_approved|Withdrawn
HgeneCHRM3P20309DB00342TerfenadineAntagonistSmall moleculeApproved|Withdrawn

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Related Diseases for CHRM3-CASQ1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHRM3C0003962Ascites1CTD_human
HgeneCHRM3C0005686Urinary Bladder Diseases1CTD_human
HgeneCHRM3C0010417Cryptorchidism1CTD_human
HgeneCHRM3C0019193Hepatitis, Toxic1CTD_human
HgeneCHRM3C0023890Liver Cirrhosis1CTD_human
HgeneCHRM3C0033770Prune Belly Syndrome1CTD_human;ORPHANET
HgeneCHRM3C0239946Fibrosis, Liver1CTD_human
HgeneCHRM3C0265363Urethral obstruction sequence1ORPHANET
HgeneCHRM3C0431663Bilateral Cryptorchidism1CTD_human
HgeneCHRM3C0431664Unilateral Cryptorchidism1CTD_human
HgeneCHRM3C0860207Drug-Induced Liver Disease1CTD_human
HgeneCHRM3C1262760Hepatitis, Drug-Induced1CTD_human
HgeneCHRM3C1563730Abdominal Cryptorchidism1CTD_human
HgeneCHRM3C1563731Inguinal Cryptorchidism1CTD_human
HgeneCHRM3C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneCHRM3C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneCHRM3C4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC4015624MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0410207Tubular Aggregate Myopathy2ORPHANET
TgeneC4011726MYOPATHY, TUBULAR AGGREGATE, 11UNIPROT