AutismKB 2.0

Evidence Details for MYH9


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Basic Information Top
Gene Symbol:MYH9 ( DFNA17,EPSTS,FTNS,MGC104539,MHA,NMHC-II-A,NMMHCA )
Gene Full Name: myosin, heavy chain 9, non-muscle
Band: 22q12.3
Quick LinksEntrez ID:4627; OMIM: 160775; Uniprot ID:MYH9_HUMAN; ENSEMBL ID: ENSG00000100345; HGNC ID: 7579
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYH9|4627|nucleotide
ATGGCACAGCAAGCTGCCGATAAGTATCTCTATGTGGATAAAAACTTCATCAACAATCCGCTGGCCCAGGCCGACTGGGCTGCCAAGAAGCTGGTATGGGTGCCT
TCCGACAAGAGTGGCTTTGAGCCAGCCAGCCTCAAGGAGGAGGTGGGCGAAGAGGCCATCGTGGAGCTGGTGGAGAATGGGAAGAAGGTGAAGGTGAACAAGGAT
GACATCCAGAAGATGAACCCGCCCAAGTTCTCCAAGGTGGAGGACATGGCAGAGCTCACGTGCCTCAACGAAGCCTCGGTGCTGCACAACCTCAAGGAGCGTTAC
TACTCAGGGCTCATCTACACCTATTCAGGCCTGTTCTGTGTGGTCATCAATCCTTACAAGAACCTGCCCATCTACTCTGAAGAGATTGTGGAAATGTACAAGGGC
AAGAAGAGGCACGAGATGCCCCCTCACATCTATGCCATCACAGACACCGCCTACAGGAGTATGATGCAAGACCGAGAAGATCAATCCATCTTGTGCACTGGTGAA
TCTGGAGCTGGCAAGACGGAGAACACCAAGAAGGTCATCCAGTATCTGGCGTACGTGGCGTCCTCGCACAAGAGCAAGAAGGACCAGGGCGAGCTGGAGCGGCAG
CTGCTGCAGGCCAACCCCATCCTGGAGGCCTTCGGGAACGCCAAGACCGTGAAGAATGACAACTCCTCCCGCTTCGGCAAATTCATTCGCATCAACTTTGATGTC
AATGGCTACATTGTTGGAGCCAACATTGAGACTTATCTTTTGGAGAAATCTCGTGCTATCCGCCAAGCCAAGGAAGAACGGACCTTCCACATCTTCTATTATCTC
CTGTCTGGGGCTGGAGAGCACCTGAAGACCGATCTCCTGTTGGAGCCGTACAACAAATACCGCTTCCTGTCCAATGGACACGTCACCATCCCCGGGCAGCAGGAC
AAGGACATGTTCCAGGAGACCATGGAGGCCATGAGGATTATGGGCATCCCAGAAGAGGAGCAAATGGGCCTGCTGCGGGTCATCTCAGGGGTTCTTCAGCTCGGC
AACATCGTCTTCAAGAAGGAGCGGAACACTGACCAGGCGTCCATGCCCGACAACACAGCTGCCCAAAAGGTGTCCCATCTCTTGGGTATCAATGTGACCGATTTC
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>MYH9|4627|protein
MAQQAADKYLYVDKNFINNPLAQADWAAKKLVWVPSDKSGFEPASLKEEVGEEAIVELVENGKKVKVNKDDIQKMNPPKFSKVEDMAELTCLNEASVLHNLKERY
YSGLIYTYSGLFCVVINPYKNLPIYSEEIVEMYKGKKRHEMPPHIYAITDTAYRSMMQDREDQSILCTGESGAGKTENTKKVIQYLAYVASSHKSKKDQGELERQ
LLQANPILEAFGNAKTVKNDNSSRFGKFIRINFDVNGYIVGANIETYLLEKSRAIRQAKEERTFHIFYYLLSGAGEHLKTDLLLEPYNKYRFLSNGHVTIPGQQD
KDMFQETMEAMRIMGIPEEEQMGLLRVISGVLQLGNIVFKKERNTDQASMPDNTAAQKVSHLLGINVTDFTRGILTPRIKVGRDYVQKAQTKEQADFAIEALAKA
TYERMFRWLVLRINKALDKTKRQGASFIGILDIAGFEIFDLNSFEQLCINYTNEKLQQLFNHTMFILEQEEYQREGIEWNFIDFGLDLQPCIDLIEKPAGPPGIL
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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 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 2 (4) 0 (2) 0 (0) 0 (0) 22 (8)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top
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
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Li J, 2017 536 - 22 Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in au
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Dou Y, 2017 - 2361 230 Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and
Krupp DR, 2017 - 2264 247 Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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