AutismKB 2.0

Evidence Details for MYH6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MYH6 ( ASD3,CMD1EE,CMH14,MYHC,MYHCA,alpha-MHC )
Gene Full Name: myosin, heavy chain 6, cardiac muscle, alpha
Band: 14q11.2
Quick LinksEntrez ID:4624; OMIM: 160710; Uniprot ID:MYH6_HUMAN; ENSEMBL ID: ENSG00000197616; HGNC ID: 7576
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYH6|4624|nucleotide
ATGACCGATGCCCAGATGGCTGACTTTGGGGCAGCGGCCCAGTACCTCCGCAAGTCAGAGAAGGAGCGTCTAGAGGCCCAGACCCGGCCCTTTGACATTCGCACT
GAGTGCTTCGTGCCCGATGACAAGGAAGAGTTTGTCAAAGCCAAGATTTTGTCCCGGGAGGGAGGCAAGGTCATTGCTGAAACCGAGAATGGGAAGACGGTGACT
GTGAAGGAGGACCAGGTGTTGCAGCAGAACCCACCCAAGTTCGACAAGATTGAGGACATGGCCATGCTGACCTTCCTGCACGAGCCCGCGGTGCTTTTCAACCTC
AAGGAGCGCTACGCGGCCTGGATGATATATACCTACTCGGGCCTCTTCTGTGTCACTGTCAACCCCTACAAGTGGCTGCCGGTGTACAATGCCGAGGTGGTGGCC
GCCTACCGGGGCAAGAAGAGGAGTGAGGCCCCGCCCCACATCTTCTCCATCTCCGACAACGCCTATCAGTACATGCTGACAGATCGGGAGAACCAGTCCATCCTC
ATCACGGGAGAATCCGGGGCGGGGAAGACTGTGAACACCAAGCGTGTCATCCAGTACTTTGCCAGCATTGCAGCCATAGGTGACCGTGGCAAGAAGGACAATGCC
AATGCGAACAAGGGCACCCTGGAGGACCAGATCATCCAGGCCAACCCCGCTCTGGAGGCCTTCGGCAATGCCAAGACTGTCCGGAACGACAACTCCTCCCGCTTT
GGGAAATTCATTAGGATCCACTTTGGGGCCACTGGAAAGCTGGCTTCTGCAGACATAGAGACCTACCTGCTGGAGAAGTCCCGGGTGATCTTCCAGCTGAAAGCT
GAGAGAAACTACCACATCTTCTACCAGATTCTGTCCAACAAGAAGCCGGAGTTGCTGGACATGCTGCTGGTCACCAACAATCCCTACGACTACGCCTTCGTGTCT
CAGGGAGAGGTGTCCGTGGCCTCCATTGATGACTCCGAGGAGCTCATGGCCACCGATAGTGCCTTTGACGTGCTGGGCTTCACTTCAGAGGAGAAAGCTGGCGTC
TACAAGCTGACGGGAGCCATCATGCACTACGGGAACATGAAGTTCAAGCAGAAGCAGCGGGAGGAGCAGGCGGAGCCAGACGGCACCGAAGATGCTGACAAGTCG
Show »

>MYH6|4624|protein
MTDAQMADFGAAAQYLRKSEKERLEAQTRPFDIRTECFVPDDKEEFVKAKILSREGGKVIAETENGKTVTVKEDQVLQQNPPKFDKIEDMAMLTFLHEPAVLFNL
KERYAAWMIYTYSGLFCVTVNPYKWLPVYNAEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGESGAGKTVNTKRVIQYFASIAAIGDRGKKDNA
NANKGTLEDQIIQANPALEAFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERNYHIFYQILSNKKPELLDMLLVTNNPYDYAFVS
QGEVSVASIDDSEELMATDSAFDVLGFTSEEKAGVYKLTGAIMHYGNMKFKQKQREEQAEPDGTEDADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQSVQQ
VYYSIGALAKAVYEKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLI
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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (3)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top