	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 581

FusionGeneSummary for ACTN2_CHRM3

Fusion gene summary

Fusion gene information	Fusion gene name: ACTN2_CHRM3
	Fusion gene ID: 581
		Hgene	Tgene
	Gene symbol	ACTN2	CHRM3
	Gene ID	88	1131
	Gene name	actinin alpha 2	cholinergic receptor muscarinic 3
	Synonyms	CMD1AA\|CMH23	EGBRS\|HM3\|PBS
	Cytomap	1q43	1q43
	Type of gene	protein-coding	protein-coding
	Description	alpha-actinin-2F-actin cross-linking proteinalpha-actinin skeletal muscle	muscarinic acetylcholine receptor M3acetylcholine receptor, muscarinic 3m3 muscarinic receptor
	Modification date	20180522	20180523
	UniProtAcc	P35609	P20309
	Ensembl transtripts involved in fusion gene	ENST00000542672, ENST00000366578, ENST00000492634, ENST00000546208,	ENST00000468573, ENST00000255380,
Fusion gene scores	* DoF score	2 X 2 X 2=8	12 X 12 X 4=576
	# samples	2	13
	** MAII score	log2(2/8*10)=1.32192809488736	log2(13/576*10)=-2.14755718841386 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]
Functional or gene categories assigned by FusionGDB annotation

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	ACTN2	GO:0030035	microspike assembly	12356918
Hgene	ACTN2	GO:0043268	positive regulation of potassium ion transport	17110593
Hgene	ACTN2	GO:0051289	protein homotetramerization	9501083
Hgene	ACTN2	GO:1901018	positive regulation of potassium ion transmembrane transporter activity	17110593

Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.

Data type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	RV	BRCA	TCGA-AN-A0G0-01A	ACTN2	chr1	236850099	+	CHRM3	chr1	239841486	+
TCGA	LD	BRCA	TCGA-AN-A0G0-01A	ACTN2	chr1	236850099	+	CHRM3	chr1	239795524	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-3UTR	ENST00000542672	ENST00000468573	ACTN2	chr1	236850099	+	CHRM3	chr1	239841486	+
5CDS-5UTR	ENST00000542672	ENST00000255380	ACTN2	chr1	236850099	+	CHRM3	chr1	239841486	+
5CDS-3UTR	ENST00000366578	ENST00000468573	ACTN2	chr1	236850099	+	CHRM3	chr1	239841486	+
5CDS-5UTR	ENST00000366578	ENST00000255380	ACTN2	chr1	236850099	+	CHRM3	chr1	239841486	+
3UTR-3UTR	ENST00000492634	ENST00000468573	ACTN2	chr1	236850099	+	CHRM3	chr1	239841486	+
3UTR-5UTR	ENST00000492634	ENST00000255380	ACTN2	chr1	236850099	+	CHRM3	chr1	239841486	+
intron-3UTR	ENST00000546208	ENST00000468573	ACTN2	chr1	236850099	+	CHRM3	chr1	239841486	+
intron-5UTR	ENST00000546208	ENST00000255380	ACTN2	chr1	236850099	+	CHRM3	chr1	239841486	+
5CDS-3UTR	ENST00000542672	ENST00000468573	ACTN2	chr1	236850099	+	CHRM3	chr1	239795524	+
5CDS-5UTR	ENST00000542672	ENST00000255380	ACTN2	chr1	236850099	+	CHRM3	chr1	239795524	+
5CDS-3UTR	ENST00000366578	ENST00000468573	ACTN2	chr1	236850099	+	CHRM3	chr1	239795524	+
5CDS-5UTR	ENST00000366578	ENST00000255380	ACTN2	chr1	236850099	+	CHRM3	chr1	239795524	+
3UTR-3UTR	ENST00000492634	ENST00000468573	ACTN2	chr1	236850099	+	CHRM3	chr1	239795524	+
3UTR-5UTR	ENST00000492634	ENST00000255380	ACTN2	chr1	236850099	+	CHRM3	chr1	239795524	+
intron-3UTR	ENST00000546208	ENST00000468573	ACTN2	chr1	236850099	+	CHRM3	chr1	239795524	+
intron-5UTR	ENST00000546208	ENST00000255380	ACTN2	chr1	236850099	+	CHRM3	chr1	239795524	+

Top

FusionProtFeatures for ACTN2_CHRM3

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
ACTN2 P35609	CHRM3 P20309
F-actin cross-linking protein which is thought to anchoractin to a variety of intracellular structures. This is a bundlingprotein.	The muscarinic acetylcholine receptor mediates variouscellular responses, including inhibition of adenylate cyclase,breakdown of phosphoinositides and modulation of potassiumchannels through the action of G proteins. Primary transducingeffect is Pi turnover. {ECO:0000269\|PubMed:7565628}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Top

FusionGeneSequence for ACTN2_CHRM3

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

Top

FusionGenePPI for ACTN2_CHRM3

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
ACTN2	MYPN, KCNA5, DLG1, DISC1, GRIN2B, ADAM12, MYOZ1, TNN, PDLIM1, DLG4, ACTN3, YWHAQ, NRIP1, KAT2B, MED14, SNW1, ITGB3BP, ATXN7, NR1I2, PSMA3, KCNN2, LDB3, ATXN2, COIL, FBXL22, NOS3, ACTN4, ACTN1, ERBB2IP, CAPN1, IGSF8, RPL35, ZNF446, SYNPO2, ACTN2, MOS, SNAI1, SP100, PDLIM3, MYOZ2, MICALL2, BRMS1L, FAM154A, RTP5, HSPB1, MYH1, MYH2, MYH3, MYH4, MYH6, MYH7, MYH8, PSMB5, TPM3, TPM4, TNNI1, TPM1, TPM2	CHRM3	ARF1, ARF6, CSNK1A1, SET, ATP1A4, TUBA3C, CCRN4L, PLD2, SLC4A7, FARP2, HEATR3, CAV1, YIPF4, GTPBP2, PTRH2, DCP2, IPO9, GBF1, USP46, GPN3, IPO13, DYM, STARD3, HOOK2, EXOC2, TUBA4A, PI4KA, ATL2, FASTKD1, TTI1, DNAJA3, FTSJ1, CAND2, TUBB3, C1orf112, LRP10, PIK3CB, JPH1, PPP6R1, LTN1, TUBB8, PIGX, PBXIP1, C10orf35, IPO7, ARL10, TELO2, NARS2, FLT4, STX18

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

RelatedDrugs for ACTN2_CHRM3

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner	Gene	UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Tgene	CHRM3	P20309	DB00185	Cevimeline	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00202	Succinylcholine	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00246	Ziprasidone	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00280	Disopyramide	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00321	Amitriptyline	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00332	Ipratropium bromide	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00340	Metixene	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00363	Clozapine	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00376	Trihexyphenidyl	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00383	Oxyphencyclimine	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00387	Procyclidine	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00408	Loxapine	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00411	Carbachol	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00424	Hyoscyamine	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00434	Cyproheptadine	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00458	Imipramine	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00540	Nortriptyline	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00725	Homatropine Methylbromide	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00777	Propiomazine	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00835	Brompheniramine	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB01019	Bethanechol	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB01224	Quetiapine	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB01226	Mivacurium	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB01337	Pancuronium	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB01338	Pipecuronium	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB01409	Tiotropium	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB01591	Solifenacin	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB03128	Acetylcholine	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB04843	Mepenzolate	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB06702	Fesoterodine	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB06787	Hexocyclium	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB08897	Aclidinium	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB09076	Umeclidinium	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB09167	Dosulepin	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB09357	Dexpanthenol	Muscarinic acetylcholine receptor M3	small molecule	approved
Tgene	CHRM3	P20309	DB00193	Tramadol	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational
Tgene	CHRM3	P20309	DB00334	Olanzapine	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational
Tgene	CHRM3	P20309	DB00496	Darifenacin	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational
Tgene	CHRM3	P20309	DB00622	Nicardipine	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational
Tgene	CHRM3	P20309	DB00715	Paroxetine	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational
Tgene	CHRM3	P20309	DB00747	Scopolamine	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational
Tgene	CHRM3	P20309	DB00809	Tropicamide	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational
Tgene	CHRM3	P20309	DB00934	Maprotiline	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational
Tgene	CHRM3	P20309	DB01036	Tolterodine	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational
Tgene	CHRM3	P20309	DB01062	Oxybutynin	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational
Tgene	CHRM3	P20309	DB01069	Promethazine	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational
Tgene	CHRM3	P20309	DB01085	Pilocarpine	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational
Tgene	CHRM3	P20309	DB01142	Doxepin	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational
Tgene	CHRM3	P20309	DB01151	Desipramine	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational
Tgene	CHRM3	P20309	DB01238	Aripiprazole	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational
Tgene	CHRM3	P20309	DB01403	Methotrimeprazine	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational
Tgene	CHRM3	P20309	DB00477	Chlorpromazine	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational\|vet_approved
Tgene	CHRM3	P20309	DB00986	Glycopyrronium	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational\|vet_approved
Tgene	CHRM3	P20309	DB09300	Butylscopolamine	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational\|vet_approved
Tgene	CHRM3	P20309	DB01239	Chlorprothixene	Muscarinic acetylcholine receptor M3	small molecule	approved\|investigational\|withdrawn
Tgene	CHRM3	P20309	DB00420	Promazine	Muscarinic acetylcholine receptor M3	small molecule	approved\|vet_approved
Tgene	CHRM3	P20309	DB00572	Atropine	Muscarinic acetylcholine receptor M3	small molecule	approved\|vet_approved
Tgene	CHRM3	P20309	DB00599	Thiopental	Muscarinic acetylcholine receptor M3	small molecule	approved\|vet_approved
Tgene	CHRM3	P20309	DB01625	Isopropamide	Muscarinic acetylcholine receptor M3	small molecule	approved\|vet_approved
Tgene	CHRM3	P20309	DB00342	Terfenadine	Muscarinic acetylcholine receptor M3	small molecule	approved\|withdrawn

Top

RelatedDiseases for ACTN2_CHRM3

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	ACTN2	C2677338	Cardiomyopathy, Dilated, 1AA	4	CTD_human;UNIPROT
Tgene	CHRM3	C0003962	Ascites	1	CTD_human
Tgene	CHRM3	C0005586	Bipolar Disorder	1	PSYGENET
Tgene	CHRM3	C0005686	Urinary Bladder Diseases	1	CTD_human
Tgene	CHRM3	C0010417	Cryptorchidism	1	CTD_human;HPO
Tgene	CHRM3	C0023890	Liver Cirrhosis	1	CTD_human
Tgene	CHRM3	C0033770	Prune Belly Syndrome	1	CTD_human;HPO;ORPHANET
Tgene	CHRM3	C0041696	Unipolar Depression	1	PSYGENET
Tgene	CHRM3	C0525045	Mood Disorders	1	PSYGENET
Tgene	CHRM3	C1269683	Major Depressive Disorder	1	PSYGENET
Tgene	CHRM3	C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human

Home

Download

Statistics

Examples

Help

Contact

Fusion gene ID: 581

FusionGeneSummary for ACTN2_CHRM3

FusionProtFeatures for ACTN2_CHRM3

FusionGeneSequence for ACTN2_CHRM3

FusionGenePPI for ACTN2_CHRM3

RelatedDrugs for ACTN2_CHRM3

RelatedDiseases for ACTN2_CHRM3