Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ACTN2-CHRM3 (FusionGDB2 ID:HG88TG1131)

Fusion Gene Summary for ACTN2-CHRM3

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTN2-CHRM3
Fusion gene ID: hg88tg1131
HgeneTgene
Gene symbol

ACTN2

CHRM3

Gene ID

88

1131

Gene nameactinin alpha 2cholinergic receptor muscarinic 3
SynonymsCMD1AA|CMH23|MPD6|MYOCOZEGBRS|HM3|PBS
Cytomap('ACTN2')('CHRM3')

1q43

1q43

Type of geneprotein-codingprotein-coding
Descriptionalpha-actinin-2F-actin cross-linking proteinalpha-actinin skeletal musclemuscarinic acetylcholine receptor M3acetylcholine receptor, muscarinic 3m3 muscarinic receptor
Modification date2020031320200327
UniProtAcc

P35609

P20309

Ensembl transtripts involved in fusion geneENST00000492634, ENST00000366578, 
ENST00000542672, ENST00000546208, 
Fusion gene scores* DoF score5 X 5 X 2=5015 X 18 X 4=1080
# samples 618
** MAII scorelog2(6/50*10)=0.263034405833794
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(18/1080*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACTN2 [Title/Abstract] AND CHRM3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACTN2(236850099)-CHRM3(239795524), # samples:2
ACTN2(236850099)-CHRM3(239841486), # 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
HgeneACTN2

GO:0030035

microspike assembly

12356918

HgeneACTN2

GO:0043268

positive regulation of potassium ion transport

17110593

HgeneACTN2

GO:1901018

positive regulation of potassium ion transmembrane transporter activity

17110593



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
ChimerDB4BRCATCGA-AN-A0G0-01AACTN2chr1

236850099

+CHRM3chr1

239795524

+
ChimerDB4BRCATCGA-AN-A0G0-01AACTN2chr1

236850099

-CHRM3chr1

239841486

+
ChimerDB4BRCATCGA-AN-A0G0-01AACTN2chr1

236850099

+CHRM3chr1

239841486

+
ChimerDB4BRCATCGA-AN-A0G0ACTN2chr1

236850099

+CHRM3chr1

239841485

+


Top

Fusion Gene ORF analysis for ACTN2-CHRM3

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-3UTRENST00000492634ENST00000468573ACTN2chr1

236850099

+CHRM3chr1

239795524

+
3UTR-3UTRENST00000492634ENST00000468573ACTN2chr1

236850099

+CHRM3chr1

239841486

+
3UTR-3UTRENST00000492634ENST00000468573ACTN2chr1

236850099

+CHRM3chr1

239841485

+
3UTR-5UTRENST00000492634ENST00000255380ACTN2chr1

236850099

+CHRM3chr1

239795524

+
3UTR-5UTRENST00000492634ENST00000255380ACTN2chr1

236850099

+CHRM3chr1

239841486

+
3UTR-5UTRENST00000492634ENST00000255380ACTN2chr1

236850099

+CHRM3chr1

239841485

+
5CDS-3UTRENST00000366578ENST00000468573ACTN2chr1

236850099

+CHRM3chr1

239795524

+
5CDS-3UTRENST00000366578ENST00000468573ACTN2chr1

236850099

+CHRM3chr1

239841486

+
5CDS-3UTRENST00000366578ENST00000468573ACTN2chr1

236850099

+CHRM3chr1

239841485

+
5CDS-3UTRENST00000542672ENST00000468573ACTN2chr1

236850099

+CHRM3chr1

239795524

+
5CDS-3UTRENST00000542672ENST00000468573ACTN2chr1

236850099

+CHRM3chr1

239841486

+
5CDS-3UTRENST00000542672ENST00000468573ACTN2chr1

236850099

+CHRM3chr1

239841485

+
5CDS-5UTRENST00000366578ENST00000255380ACTN2chr1

236850099

+CHRM3chr1

239795524

+
5CDS-5UTRENST00000366578ENST00000255380ACTN2chr1

236850099

+CHRM3chr1

239841486

+
5CDS-5UTRENST00000366578ENST00000255380ACTN2chr1

236850099

+CHRM3chr1

239841485

+
5CDS-5UTRENST00000542672ENST00000255380ACTN2chr1

236850099

+CHRM3chr1

239795524

+
5CDS-5UTRENST00000542672ENST00000255380ACTN2chr1

236850099

+CHRM3chr1

239841486

+
5CDS-5UTRENST00000542672ENST00000255380ACTN2chr1

236850099

+CHRM3chr1

239841485

+
intron-3UTRENST00000546208ENST00000468573ACTN2chr1

236850099

+CHRM3chr1

239795524

+
intron-3UTRENST00000546208ENST00000468573ACTN2chr1

236850099

+CHRM3chr1

239841486

+
intron-3UTRENST00000546208ENST00000468573ACTN2chr1

236850099

+CHRM3chr1

239841485

+
intron-5UTRENST00000546208ENST00000255380ACTN2chr1

236850099

+CHRM3chr1

239795524

+
intron-5UTRENST00000546208ENST00000255380ACTN2chr1

236850099

+CHRM3chr1

239841486

+
intron-5UTRENST00000546208ENST00000255380ACTN2chr1

236850099

+CHRM3chr1

239841485

+

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

Top

Fusion Genomic Features for ACTN2-CHRM3


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)
ACTN2chr1236850099+CHRM3chr1239795523+3.14E-070.99999964
ACTN2chr1236850099+CHRM3chr1239841485+2.33E-091
ACTN2chr1236850099+CHRM3chr1239841485+2.33E-091
ACTN2chr1236850099+CHRM3chr1239795523+3.14E-070.99999964
ACTN2chr1236850099+CHRM3chr1239841485+2.33E-091
ACTN2chr1236850099+CHRM3chr1239841485+2.33E-091


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%

Top

Fusion Protein Features for ACTN2-CHRM3


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/:236850099/:239795524)
- 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
ACTN2

P35609

CHRM3

P20309

FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.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}.

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


Top

Fusion Gene Sequence for ACTN2-CHRM3


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.

Top

Fusion Gene PPI Analysis for ACTN2-CHRM3


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


Top

Related Drugs for ACTN2-CHRM3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCHRM3P20309DB00185CevimelineAgonistSmall moleculeApproved
TgeneCHRM3P20309DB00202SuccinylcholineAgonistSmall moleculeApproved
TgeneCHRM3P20309DB00209TrospiumSmall moleculeApproved
TgeneCHRM3P20309DB00246ZiprasidoneAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB00280DisopyramideAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB00363ClozapineAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB00376TrihexyphenidylAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB00383OxyphencyclimineAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB00387ProcyclidineAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB00408LoxapineBinderSmall moleculeApproved
TgeneCHRM3P20309DB00411CarbamoylcholineSmall moleculeApproved
TgeneCHRM3P20309DB00424HyoscyamineAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB00434CyproheptadineAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB00458ImipramineAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB00462Methscopolamine bromideAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB00502HaloperidolSmall moleculeApproved
TgeneCHRM3P20309DB00517Anisotropine methylbromideAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB00725Homatropine methylbromideAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB00835BrompheniramineAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB01019BethanecholSmall moleculeApproved
TgeneCHRM3P20309DB01224QuetiapineAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB01226MivacuriumAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB01337PancuroniumAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB01338PipecuroniumAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB01409TiotropiumAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB01591SolifenacinAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB04843MepenzolateAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB06153PizotifenAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB06702FesoterodineAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB06787HexocycliumAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB08897AclidiniumAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB09076UmeclidiniumAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB09089TrimebutineAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB09167DosulepinAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB11181HomatropineAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB11235ThonzylamineAntagonistSmall moleculeApproved
TgeneCHRM3P20309DB00332IpratropiumAntagonistSmall moleculeApproved|Experimental
TgeneCHRM3P20309DB01239ChlorprothixeneAntagonistSmall moleculeApproved|Experimental|Investigational|Withdrawn
TgeneCHRM3P20309DB00193TramadolAntagonistSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB00334OlanzapineAntagonistSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB00496DarifenacinAntagonistSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB00622NicardipineAntagonistSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB00747ScopolamineAntagonistSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB00809TropicamideAntagonistSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB00934MaprotilineAntagonistSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB00940MethanthelineSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB01036TolterodineAntagonistSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB01062OxybutyninAntagonistSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB01069PromethazineAntagonistSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB01085PilocarpineAgonistSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB01142DoxepinAntagonistSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB01151DesipramineAntagonistSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB01238AripiprazoleLigandSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB01403MethotrimeprazineAntagonistSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB03128AcetylcholineSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB06709MethacholineAgonistSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB12278PropiverineAntagonistSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB14185Aripiprazole lauroxilSmall moleculeApproved|Investigational
TgeneCHRM3P20309DB00477ChlorpromazineAntagonistSmall moleculeApproved|Investigational|Vet_approved
TgeneCHRM3P20309DB00986GlycopyrroniumAntagonistSmall moleculeApproved|Investigational|Vet_approved
TgeneCHRM3P20309DB09300ButylscopolamineAntagonistSmall moleculeApproved|Investigational|Vet_approved
TgeneCHRM3P20309DB01231DiphenidolAntagonistSmall moleculeApproved|Investigational|Withdrawn
TgeneCHRM3P20309DB00572AtropineAntagonistSmall moleculeApproved|Vet_approved
TgeneCHRM3P20309DB00599ThiopentalSmall moleculeApproved|Vet_approved
TgeneCHRM3P20309DB01625IsopropamideAntagonistSmall moleculeApproved|Vet_approved
TgeneCHRM3P20309DB13720DiphemanilAntagonistSmall moleculeApproved|Vet_approved|Withdrawn
TgeneCHRM3P20309DB00342TerfenadineAntagonistSmall moleculeApproved|Withdrawn

Top

Related Diseases for ACTN2-CHRM3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTN2C2677338Cardiomyopathy, Dilated, 1AA6CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneACTN2C0340427Familial dilated cardiomyopathy2ORPHANET
TgeneC0003962Ascites1CTD_human
TgeneC0005686Urinary Bladder Diseases1CTD_human
TgeneC0010417Cryptorchidism1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0023890Liver Cirrhosis1CTD_human
TgeneC0033770Prune Belly Syndrome1CTD_human;ORPHANET
TgeneC0239946Fibrosis, Liver1CTD_human
TgeneC0265363Urethral obstruction sequence1ORPHANET
TgeneC0431663Bilateral Cryptorchidism1CTD_human
TgeneC0431664Unilateral Cryptorchidism1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1563730Abdominal Cryptorchidism1CTD_human
TgeneC1563731Inguinal Cryptorchidism1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human