AutismKB 2.0

Evidence Details for MYH8


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MYH8 ( MyHC-peri,MyHC-pn,gtMHC-F )
Gene Full Name: myosin, heavy chain 8, skeletal muscle, perinatal
Band: 17p13.1
Quick LinksEntrez ID:4626; OMIM: 160741; Uniprot ID:MYH8_HUMAN; ENSEMBL ID: ENSG00000133020; HGNC ID: 7578
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYH8|4626|nucleotide
ATGAGTGCGAGCTCAGACGCTGAGATGGCTGTTTTTGGCGAAGCTGCTCCCTACCTTCGAAAATCAGAAAAGGAGCGGATTGAGGCCCAAAACAAGCCGTTTGAT
GCTAAAACATCTGTCTTTGTGGCGGAGCCCAAGGAATCCTATGTGAAGAGCACTATACAAAGCAAAGAAGGAGGGAAAGTAACCGTAAAGACTGAAGGTGGAGCA
ACTCTAACTGTCAGGGAAGACCAAGTCTTCCCTATGAACCCTCCGAAATATGACAAAATTGAGGACATGGCCATGATGACTCATCTACACGAGCCTGGAGTGCTG
TACAACCTCAAAGAGCGCTATGCAGCCTGGATGATCTACACCTACTCAGGCCTCTTCTGTGTCACCGTCAACCCCTACAAGTGGCTGCCGGTGTACAAGCCCGAG
GTGGTGGCTGCCTACAGAGGCAAAAAGCGCCAGGAGGCCCCGCCCCACATCTTCTCCATCTCTGACAATGCCTATCAGTTCATGTTGACTGATCGAGAGAATCAG
TCCATCCTGATCACCGGAGAATCTGGTGCCGGAAAGACTGTGAACACCAAGCGTGTCATCCAATACTTTGCAACAATTGCAGTTACTGGAGAGAAGAAGAAGGAT
GAATCTGGCAAAATGCAGGGGACTCTGGAAGATCAAATCATCAGCGCCAATCCCCTACTGGAGGCCTTTGGCAATGCCAAAACTGTGAGGAATGACAACTCCTCT
CGCTTTGGTAAATTCATTAGAATCCACTTTGGTACTACAGGGAAGCTGGCATCTGCTGATATAGAAACATATCTTTTAGAAAAGTCCAGAGTTACTTTCCAGCTA
AAGGCGGAAAGAAGCTACCATATTTTTTATCAGATCACTTCCAATAAGAAGCCAGATCTAATTGAAATGCTCCTGATCACCACCAACCCATATGACTATGCCTTC
GTCAGTCAGGGGGAGATCACAGTTCCCAGTATTGATGACCAAGAAGAGTTGATGGCCACTGATAGTGCCATTGACATCCTGGGCTTCACTCCTGAAGAGAAAGTG
TCCATCTATAAACTCACAGGGGCTGTGATGCATTATGGGAACATGAAATTCAAGCAAAAGCAGCGTGAGGAGCAAGCTGAGCCAGATGGCACAGAAGTCGCTGAC
Show »

>MYH8|4626|protein
MSASSDAEMAVFGEAAPYLRKSEKERIEAQNKPFDAKTSVFVAEPKESYVKSTIQSKEGGKVTVKTEGGATLTVREDQVFPMNPPKYDKIEDMAMMTHLHEPGVL
YNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYKPEVVAAYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGESGAGKTVNTKRVIQYFATIAVTGEKKKD
ESGKMQGTLEDQIISANPLLEAFGNAKTVRNDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVTFQLKAERSYHIFYQITSNKKPDLIEMLLITTNPYDYAF
VSQGEITVPSIDDQEELMATDSAIDILGFTPEEKVSIYKLTGAVMHYGNMKFKQKQREEQAEPDGTEVADKAAYLQSLNSADLLKALCYPRVKVGNEYVTKGQTV
QQVYNAVGALAKAVYEKMFLWMVTRINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIE
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 0 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 2 (5)
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
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top