Gene Page: MYH11

Summary ?
GeneID4629
SymbolMYH11
SynonymsAAT4|FAA4|SMHC|SMMHC
Descriptionmyosin, heavy chain 11, smooth muscle
ReferenceMIM:160745|HGNC:HGNC:7569|Ensembl:ENSG00000133392|HPRD:01174|Vega:OTTHUMG00000129935
Gene typeprotein-coding
Map location16p13.11
Pascal p-value0.286
Sherlock p-value0.875
TADA p-value0.03
Fetal beta-3.191
eGeneMyers' cis & trans
SupportG2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.humanNRC
CompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CNV:YESCopy number variation studiesManual curation
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.01775 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
MYH11chr1615829341CTNM_001040113
NM_001040114
NM_002474
NM_022844		p.1137E>K
p.1137E>K
p.1130E>K
p.1130E>K		missense
missense
missense
missense		SchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs9846232chr313743131MYH1146290.05trans
rs4688011chr3119227246MYH1146290.15trans
rs7621859chr3193879694MYH1146290.17trans
rs6837482chr433207930MYH1146290.06trans
rs10039865chr515310090MYH1146290.05trans
rs13191618chr646733068MYH1146290.05trans
rs6458516chr646741902MYH1146290.18trans
rs4496986chr86079742MYH1146290.17trans
rs1240028chr890093357MYH1146290.03trans
rs11776005chr890187416MYH1146290.06trans
rs7300878chr12116243764MYH1146290.01trans
rs7145468chr1475923649MYH1146290.13trans
rs16944056chr1676271995MYH1146290.18trans
rs933577chr1753452334MYH1146290.09trans
rs7254919chr1933219998MYH1146290.03trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000166nucleotide bindingIEA-
GO:0003779actin bindingIEA-
GO:0003774motor activityIEA-
GO:0005516calmodulin bindingIEA-
GO:0005524ATP bindingIEA-
GO:0008307structural constituent of muscleIMP16444274 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0030241muscle thick filament assemblyISS-
GO:0006941striated muscle contractionIEA-
GO:0006939smooth muscle contractionISS-
GO:0048739cardiac muscle fiber developmentIMP16444274 
GO:0048251elastic fiber assemblyIMP16444274 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005863striated muscle thick filamentIEA-
GO:0016459myosin complexIEA-
GO:0042470melanosomeIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG VASCULAR SMOOTH MUSCLE CONTRACTION 11581All SZGR 2.0 genes in this pathway
KEGG TIGHT JUNCTION 13486All SZGR 2.0 genes in this pathway
KEGG VIRAL MYOCARDITIS 7358All SZGR 2.0 genes in this pathway
REACTOME DEVELOPMENTAL BIOLOGY 396292All SZGR 2.0 genes in this pathway
REACTOME MUSCLE CONTRACTION 4824All SZGR 2.0 genes in this pathway
REACTOME AXON GUIDANCE 251188All SZGR 2.0 genes in this pathway
REACTOME SEMA4D IN SEMAPHORIN SIGNALING 3222All SZGR 2.0 genes in this pathway
REACTOME SEMAPHORIN INTERACTIONS 6853All SZGR 2.0 genes in this pathway
REACTOME SEMA4D INDUCED CELL MIGRATION AND GROWTH CONE COLLAPSE 2721All SZGR 2.0 genes in this pathway
REACTOME SMOOTH MUSCLE CONTRACTION 2514All SZGR 2.0 genes in this pathway
LIU PROSTATE CANCER DN 481290All SZGR 2.0 genes in this pathway
TURASHVILI BREAST DUCTAL CARCINOMA VS DUCTAL NORMAL DN 198110All SZGR 2.0 genes in this pathway
TURASHVILI BREAST DUCTAL CARCINOMA VS LOBULAR NORMAL DN 6943All SZGR 2.0 genes in this pathway
TURASHVILI BREAST LOBULAR CARCINOMA VS LOBULAR NORMAL UP 9459All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 1 DN 242165All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 DN 281186All SZGR 2.0 genes in this pathway
MULLIGHAN NPM1 SIGNATURE 3 DN 162116All SZGR 2.0 genes in this pathway
PAPASPYRIDONOS UNSTABLE ATEROSCLEROTIC PLAQUE DN 4329All SZGR 2.0 genes in this pathway
SABATES COLORECTAL ADENOMA DN 291176All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821933All SZGR 2.0 genes in this pathway
MARKEY RB1 ACUTE LOF DN 228137All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 3 4WK UP 214144All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 6 7WK DN 7954All SZGR 2.0 genes in this pathway
MCBRYAN TERMINAL END BUD UP 1212All SZGR 2.0 genes in this pathway
FALVELLA SMOKERS WITH LUNG CANCER 8052All SZGR 2.0 genes in this pathway
LE EGR2 TARGETS DN 10884All SZGR 2.0 genes in this pathway
ROSS ACUTE MYELOID LEUKEMIA CBF 8257All SZGR 2.0 genes in this pathway
ROSS AML WITH CBFB MYH11 FUSION 5232All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT OK VS DONOR UP 555346All SZGR 2.0 genes in this pathway
AFFAR YY1 TARGETS UP 214133All SZGR 2.0 genes in this pathway
VERHAAK AML WITH NPM1 MUTATED DN 246180All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE UP 249170All SZGR 2.0 genes in this pathway
RAMASWAMY METASTASIS DN 6147All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR DN 504323All SZGR 2.0 genes in this pathway
ZHANG ANTIVIRAL RESPONSE TO RIBAVIRIN UP 3021All SZGR 2.0 genes in this pathway
KEEN RESPONSE TO ROSIGLITAZONE DN 10668All SZGR 2.0 genes in this pathway
NIELSEN LEIOMYOSARCOMA CNN1 UP 1913All SZGR 2.0 genes in this pathway
SMID BREAST CANCER LUMINAL B DN 564326All SZGR 2.0 genes in this pathway
SMID BREAST CANCER LUMINAL A UP 8452All SZGR 2.0 genes in this pathway
SMID BREAST CANCER NORMAL LIKE UP 476285All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL DN 701446All SZGR 2.0 genes in this pathway
IZADPANAH STEM CELL ADIPOSE VS BONE DN 10868All SZGR 2.0 genes in this pathway
BOQUEST STEM CELL UP 260174All SZGR 2.0 genes in this pathway
CROMER TUMORIGENESIS DN 5129All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323240All SZGR 2.0 genes in this pathway
MOOTHA PGC 420269All SZGR 2.0 genes in this pathway
WU SILENCED BY METHYLATION IN BLADDER CANCER 5542All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS DN 435289All SZGR 2.0 genes in this pathway
HOFFMANN LARGE TO SMALL PRE BII LYMPHOCYTE UP 163102All SZGR 2.0 genes in this pathway
HOFFMANN SMALL PRE BII TO IMMATURE B LYMPHOCYTE UP 7049All SZGR 2.0 genes in this pathway
VALK AML CLUSTER 9 3526All SZGR 2.0 genes in this pathway
VALK AML WITH T 8 21 TRANSLOCATION 55All SZGR 2.0 genes in this pathway
YAGI AML WITH INV 16 TRANSLOCATION 422277All SZGR 2.0 genes in this pathway
MIKKELSEN ES ICP WITH H3K27ME3 4227All SZGR 2.0 genes in this pathway
NAKAMURA ADIPOGENESIS EARLY DN 3827All SZGR 2.0 genes in this pathway
NAKAMURA ADIPOGENESIS LATE DN 3825All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137655All SZGR 2.0 genes in this pathway
KATSANOU ELAVL1 TARGETS UP 169105All SZGR 2.0 genes in this pathway
PLASARI TGFB1 SIGNALING VIA NFIC 1HR DN 10677All SZGR 2.0 genes in this pathway
PLASARI TGFB1 SIGNALING VIA NFIC 10HR UP 5438All SZGR 2.0 genes in this pathway
ACEVEDO FGFR1 TARGETS IN PROSTATE CANCER MODEL DN 308187All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL UP 489314All SZGR 2.0 genes in this pathway
GHANDHI BYSTANDER IRRADIATION DN 1210All SZGR 2.0 genes in this pathway