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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:CHRM2-MYH9 (FusionGDB2 ID:HG1129TG4627)

Fusion Gene Summary for CHRM2-MYH9

check button Fusion gene summary
Fusion gene informationFusion gene name: CHRM2-MYH9
Fusion gene ID: hg1129tg4627
HgeneTgene
Gene symbol

CHRM2

MYH9

Gene ID

1129

4627

Gene namecholinergic receptor muscarinic 2myosin heavy chain 9
SynonymsHM2BDPLT6|DFNA17|EPSTS|FTNS|MATINS|MHA|NMHC-II-A|NMMHC-IIA|NMMHCA
Cytomap('CHRM2')('MYH9')

7q33

22q12.3

Type of geneprotein-codingprotein-coding
Descriptionmuscarinic acetylcholine receptor M27TM receptoracetylcholine receptor, muscarinic 2cholinergic receptor, muscarinic 2muscarinic M2 receptormyosin-9cellular myosin heavy chain, type Amyosin, heavy chain 9, non-musclenon-muscle myosin heavy chain 9non-muscle myosin heavy chain Anon-muscle myosin heavy chain IIanon-muscle myosin heavy polypeptide 9nonmuscle myosin heavy chain II-A
Modification date2020031920200315
UniProtAcc

P08172

P35579

Ensembl transtripts involved in fusion geneENST00000480591, ENST00000320658, 
ENST00000397608, ENST00000401861, 
ENST00000402486, ENST00000445907, 
ENST00000453373, 
Fusion gene scores* DoF score2 X 2 X 2=844 X 46 X 15=30360
# samples 256
** MAII scorelog2(2/8*10)=1.32192809488736log2(56/30360*10)=-5.76060115335786
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CHRM2 [Title/Abstract] AND MYH9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCHRM2(136554165)-MYH9(36718566), # 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
HgeneCHRM2

GO:0007213

G protein-coupled acetylcholine receptor signaling pathway

24256733

TgeneMYH9

GO:0001525

angiogenesis

16403913

TgeneMYH9

GO:0001778

plasma membrane repair

27325790

TgeneMYH9

GO:0006509

membrane protein ectodomain proteolysis

16186248

TgeneMYH9

GO:0030048

actin filament-based movement

12237319|15845534

TgeneMYH9

GO:0031032

actomyosin structure organization

24072716



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
ChimerDB4Non-CancerTCGA-BR-6564-11ACHRM2chr7

136554165

+MYH9chr22

36718566

-


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Fusion Gene ORF analysis for CHRM2-MYH9

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-3CDSENST00000480591ENST00000216181CHRM2chr7

136554165

+MYH9chr22

36718566

-
3UTR-intronENST00000480591ENST00000401701CHRM2chr7

136554165

+MYH9chr22

36718566

-
3UTR-intronENST00000480591ENST00000475726CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-3CDSENST00000320658ENST00000216181CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-3CDSENST00000397608ENST00000216181CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-3CDSENST00000401861ENST00000216181CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-3CDSENST00000402486ENST00000216181CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-3CDSENST00000445907ENST00000216181CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-3CDSENST00000453373ENST00000216181CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-intronENST00000320658ENST00000401701CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-intronENST00000320658ENST00000475726CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-intronENST00000397608ENST00000401701CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-intronENST00000397608ENST00000475726CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-intronENST00000401861ENST00000401701CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-intronENST00000401861ENST00000475726CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-intronENST00000402486ENST00000401701CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-intronENST00000402486ENST00000475726CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-intronENST00000445907ENST00000401701CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-intronENST00000445907ENST00000475726CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-intronENST00000453373ENST00000401701CHRM2chr7

136554165

+MYH9chr22

36718566

-
5UTR-intronENST00000453373ENST00000475726CHRM2chr7

136554165

+MYH9chr22

36718566

-

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 CHRM2-MYH9


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 CHRM2-MYH9


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/:136554165/:36718566)
- 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
CHRM2

P08172

MYH9

P35579

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 adenylate cyclase inhibition. Signaling promotes phospholipase C activity, leading to the release of inositol trisphosphate (IP3); this then triggers calcium ion release into the cytosol. {ECO:0000269|PubMed:24256733, ECO:0000269|PubMed:3443095}.FUNCTION: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Promotes also cell motility together with S100A4 (PubMed:16707441). During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10 (PubMed:20052411). {ECO:0000250|UniProtKB:Q8VDD5, ECO:0000269|PubMed:16707441, ECO:0000269|PubMed:20052411}.

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 CHRM2-MYH9


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 CHRM2-MYH9


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 CHRM2-MYH9


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCHRM2P08172DB00202SuccinylcholineAgonistSmall moleculeApproved
HgeneCHRM2P08172DB00246ZiprasidoneAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00280DisopyramideAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00363ClozapineAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00376TrihexyphenidylAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00383OxyphencyclimineAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00387ProcyclidineAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00392ProfenamineAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00408LoxapineBinderSmall moleculeApproved
HgeneCHRM2P08172DB00411CarbamoylcholineAgonistSmall moleculeApproved
HgeneCHRM2P08172DB00424HyoscyamineAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00434CyproheptadineAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00458ImipramineAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00462Methscopolamine bromideAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00483Gallamine triethiodideAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00517Anisotropine methylbromideAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00725Homatropine methylbromideAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00728RocuroniumAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00785CryptenamineAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00804DicyclomineAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00835BrompheniramineAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB01019BethanecholAgonistSmall moleculeApproved
HgeneCHRM2P08172DB01135DoxacuriumAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB01148FlavoxateAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB01224QuetiapineLigandSmall moleculeApproved
HgeneCHRM2P08172DB01226MivacuriumAntagonist|Partial agonistSmall moleculeApproved
HgeneCHRM2P08172DB01336MetocurineAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB01337PancuroniumAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB01338PipecuroniumAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB01409TiotropiumAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB01591SolifenacinAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB06153PizotifenAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB06702FesoterodineAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB06787HexocycliumAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB08897AclidiniumAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB09076UmeclidiniumAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB09089TrimebutineAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB09167DosulepinAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB11181HomatropineAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB11235ThonzylamineAntagonistSmall moleculeApproved
HgeneCHRM2P08172DB00332IpratropiumAntagonistSmall moleculeApproved|Experimental
HgeneCHRM2P08172DB01239ChlorprothixeneAntagonistSmall moleculeApproved|Experimental|Investigational|Withdrawn
HgeneCHRM2P08172DB00907CocaineAntagonistSmall moleculeApproved|Illicit
HgeneCHRM2P08172DB00334OlanzapineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB00496DarifenacinAntagonistSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB00622NicardipineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB00747ScopolamineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB00809TropicamideAntagonistSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB00934MaprotilineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB00940MethanthelineSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB01036TolterodineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB01062OxybutyninAntagonistSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB01069PromethazineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB01075DiphenhydramineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB01085PilocarpineAgonistSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB01142DoxepinAntagonistSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB01151DesipramineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB01238AripiprazoleLigandSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB01403MethotrimeprazineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB03128AcetylcholineSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB08801DimetindeneAntagonistSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB12278PropiverineAntagonistSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB14185Aripiprazole lauroxilSmall moleculeApproved|Investigational
HgeneCHRM2P08172DB00986GlycopyrroniumBinderSmall moleculeApproved|Investigational|Vet_approved
HgeneCHRM2P08172DB09300ButylscopolamineAntagonistSmall moleculeApproved|Investigational|Vet_approved
HgeneCHRM2P08172DB01231DiphenidolAntagonistSmall moleculeApproved|Investigational|Withdrawn
HgeneCHRM2P08172DB00508TriflupromazineAntagonistSmall moleculeApproved|Vet_approved
HgeneCHRM2P08172DB00572AtropineAntagonistSmall moleculeApproved|Vet_approved
HgeneCHRM2P08172DB00342TerfenadineBinderSmall moleculeApproved|Withdrawn
HgeneCHRM2P08172DB04834RapacuroniumAntagonistSmall moleculeApproved|Withdrawn

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Related Diseases for CHRM2-MYH9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHRM2C0001973Alcoholic Intoxication, Chronic5PSYGENET
HgeneCHRM2C0011570Mental Depression4PSYGENET
HgeneCHRM2C0011581Depressive disorder4PSYGENET
HgeneCHRM2C0002152Alloxan Diabetes1CTD_human
HgeneCHRM2C0005586Bipolar Disorder1PSYGENET
HgeneCHRM2C0005697Neurogenic Urinary Bladder1CTD_human
HgeneCHRM2C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneCHRM2C0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
HgeneCHRM2C0011882Diabetic Neuropathies1CTD_human
HgeneCHRM2C0013146Drug abuse1CTD_human
HgeneCHRM2C0013170Drug habituation1CTD_human
HgeneCHRM2C0013222Drug Use Disorders1CTD_human
HgeneCHRM2C0014544Epilepsy1CTD_human
HgeneCHRM2C0029231Organic Mental Disorders, Substance-Induced1CTD_human
HgeneCHRM2C0036341Schizophrenia1PSYGENET
HgeneCHRM2C0038433Streptozotocin Diabetes1CTD_human
HgeneCHRM2C0038580Substance Dependence1CTD_human
HgeneCHRM2C0038586Substance Use Disorders1CTD_human
HgeneCHRM2C0086237Epilepsy, Cryptogenic1CTD_human
HgeneCHRM2C0149622Neurogenic Urinary Bladder, Atonic1CTD_human
HgeneCHRM2C0205734Diabetes, Autoimmune1CTD_human
HgeneCHRM2C0236018Aura1CTD_human
HgeneCHRM2C0236969Substance-Related Disorders1CTD_human
HgeneCHRM2C0271673Symmetric Diabetic Proximal Motor Neuropathy1CTD_human
HgeneCHRM2C0271674Asymmetric Diabetic Proximal Motor Neuropathy1CTD_human
HgeneCHRM2C0271678Diabetic Mononeuropathy1CTD_human
HgeneCHRM2C0271680Diabetic Polyneuropathies1CTD_human
HgeneCHRM2C0271685Diabetic Amyotrophy1CTD_human
HgeneCHRM2C0271686Diabetic Autonomic Neuropathy1CTD_human
HgeneCHRM2C0342302Brittle diabetes1CTD_human
HgeneCHRM2C0392115Neurogenic Urinary Bladder, Uninhibited1CTD_human
HgeneCHRM2C0393835Diabetic Asymmetric Polyneuropathy1CTD_human
HgeneCHRM2C0428977Bradycardia1CTD_human
HgeneCHRM2C0525045Mood Disorders1PSYGENET
HgeneCHRM2C0740858Substance abuse problem1CTD_human
HgeneCHRM2C0750953Urinary Bladder Neurogenesis1CTD_human
HgeneCHRM2C0750955Neurogenic Urinary Bladder, Spastic1CTD_human
HgeneCHRM2C0751074Diabetic Neuralgia1CTD_human
HgeneCHRM2C0751111Awakening Epilepsy1CTD_human
HgeneCHRM2C1510472Drug Dependence1CTD_human
HgeneCHRM2C3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
HgeneCHRM2C4316881Prescription Drug Abuse1CTD_human
HgeneCHRM2C4554117Diabetes Mellitus, Sudden-Onset1CTD_human
TgeneC0340978May-Hegglin anomaly25CLINGEN;GENOMICS_ENGLAND;UNIPROT
TgeneC1854520SEBASTIAN SYNDROME14CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0398641Epstein syndrome (disorder)11CLINGEN
TgeneC0403445Fechtner syndrome (disorder)11CLINGEN
TgeneC0477317Other primary thrombocytopenia11CLINGEN
TgeneC1842035Giant Platelet Syndrome with Thrombocytopenia11CLINGEN
TgeneC1863659DEAFNESS, AUTOSOMAL DOMINANT 176CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0022661Kidney Failure, Chronic2CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human;UNIPROT
TgeneC0017668Focal glomerulosclerosis1CTD_human
TgeneC0018784Sensorineural Hearing Loss (disorder)1GENOMICS_ENGLAND
TgeneC0018965Hematuria1GENOMICS_ENGLAND
TgeneC0020544Renal hypertension1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0027706Hereditary nephritis1CTD_human
TgeneC0033687Proteinuria1GENOMICS_ENGLAND
TgeneC0035078Kidney Failure1GENOMICS_ENGLAND
TgeneC0086432Hyalinosis, Segmental Glomerular1CTD_human
TgeneC0086543Cataract1GENOMICS_ENGLAND
TgeneC0206692Carcinoma, Lobular1CTD_human
TgeneC0410005Nodular fasciitis1ORPHANET
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1567741Alport Syndrome1CTD_human
TgeneC1567742Alport Syndrome, X-Linked1CTD_human
TgeneC1567743Alport Syndrome, Autosomal Dominant1CTD_human
TgeneC1567744Alport Syndrome, Autosomal Recessive1CTD_human
TgeneC1834478MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS1CTD_human
TgeneC2931861Hemorrhagic hereditary nephritis1CTD_human
TgeneC4280711Leukocyte inclusion bodies1GENOMICS_ENGLAND
TgeneC4704874Mammary Carcinoma, Human1CTD_human