AutismKB 2.0

Evidence Details for MYH11


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Basic Information Top
Gene Symbol:MYH11 ( AAT4,DKFZp686D10126,DKFZp686D19237,FAA4,FLJ35232,MGC126726,MGC32963,SMHC,SMMHC )
Gene Full Name: myosin, heavy chain 11, smooth muscle
Band: 16p13.11
Quick LinksEntrez ID:4629; OMIM: 160745; Uniprot ID:MYH11_HUMAN; ENSEMBL ID: ENSG00000133392; HGNC ID: 7569
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYH11|4629|nucleotide
ATGGCGCAGAAGGGCCAACTCAGTGACGATGAGAAGTTCCTCTTTGTGGACAAAAACTTCATCAACAGCCCAGTGGCCCAGGCTGACTGGGCCGCCAAGAGACTC
GTCTGGGTCCCCTCGGAGAAGCAGGGCTTCGAGGCAGCCAGCATTAAGGAGGAGAAGGGGGATGAGGTGGTTGTGGAGCTGGTGGAGAATGGCAAGAAGGTCACG
GTTGGGAAAGATGACATCCAGAAGATGAACCCACCCAAGTTCTCCAAGGTGGAGGACATGGCGGAGCTGACGTGCCTCAACGAAGCCTCCGTGCTACACAACCTG
AGGGAGCGGTACTTCTCAGGGCTAATATATACGTACTCTGGCCTCTTCTGCGTGGTGGTCAACCCCTATAAACACCTGCCCATCTACTCGGAGAAGATCGTCGAC
ATGTACAAGGGCAAGAAGAGGCACGAGATGCCGCCTCACATCTACGCCATCGCAGACACGGCCTACCGGAGCATGCTTCAAGATCGGGAGGACCAGTCCATTCTA
TGCACAGGCGAGTCTGGAGCCGGGAAAACCGAAAACACCAAGAAGGTCATTCAGTACCTGGCCGTGGTGGCCTCCTCCCACAAGGGCAAGAAAGACACAAGTATC
ACGCAAGGCCCATCTTTTGCCTACGGAGAGCTGGAAAAGCAGCTTCTACAAGCAAACCCGATTCTGGAGGCTTTCGGCAACGCCAAAACAGTGAAGAACGACAAC
TCCTCACGATTCGGCAAATTCATCCGCATCAACTTCGACGTCACGGGTTACATCGTGGGAGCCAACATTGAGACCTATCTGCTAGAAAAATCACGGGCAATTCGC
CAAGCCAGAGACGAGAGGACATTCCACATCTTTTACTACATGATTGCTGGAGCCAAGGAGAAGATGAGAAGTGACTTGCTTTTGGAGGGCTTCAACAACTACACC
TTCCTCTCCAATGGCTTTGTGCCCATCCCAGCAGCCCAGGATGATGAGATGTTCCAGGAAACCGTGGAGGCCATGGCAATCATGGGTTTCAGCGAGGAGGAGCAG
CTATCCATATTGAAGGTGGTATCATCGGTCCTGCAGCTTGGAAATATCGTCTTCAAGAAGGAAAGAAACACAGACCAGGCGTCCATGCCAGATAACACAGCTGCT
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>MYH11|4629|protein
MAQKGQLSDDEKFLFVDKNFINSPVAQADWAAKRLVWVPSEKQGFEAASIKEEKGDEVVVELVENGKKVTVGKDDIQKMNPPKFSKVEDMAELTCLNEASVLHNL
RERYFSGLIYTYSGLFCVVVNPYKHLPIYSEKIVDMYKGKKRHEMPPHIYAIADTAYRSMLQDREDQSILCTGESGAGKTENTKKVIQYLAVVASSHKGKKDTSI
TQGPSFAYGELEKQLLQANPILEAFGNAKTVKNDNSSRFGKFIRINFDVTGYIVGANIETYLLEKSRAIRQARDERTFHIFYYMIAGAKEKMRSDLLLEGFNNYT
FLSNGFVPIPAAQDDEMFQETVEAMAIMGFSEEEQLSILKVVSSVLQLGNIVFKKERNTDQASMPDNTAAQKVCHLMGINVTDFTRSILTPRIKVGRDVVQKAQT
KEQADFAVEALAKATYERLFRWILTRVNKALDKTHRQGASFLGILDIAGFEIFEVNSFEQLCINYTNEKLQQLFNHTMFILEQEEYQREGIEWNFIDFGLDLQPC
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 1 (2) 1 (6) 1 (1) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 18 (11)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Anney, 2010_1 Discovery Illumina Human 1M-single Infinium BeadChip 1369 1385
(-)
ASD -
-
-
-
Anney, 2010_2 Replication Illumina Human 1M-single Infinium BeadChip 595 1086
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Ullmann, 2007 Australia aCGHautism - - - - 70 - 70
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Bremer, 2011 - aCGHASD - - - - 223 - 223
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Smyk M, 2016 - aCGH--DD;ADHD - - - - 1 - 1
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Krupp DR, 2017 - 2264 247 Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018