AutismKB 2.0

Evidence Details for MYH7B


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Basic Information Top
Gene Symbol:MYH7B ( MGC96928,MGC96940,MHC14,MYH14 )
Gene Full Name: myosin, heavy chain 7B, cardiac muscle, beta
Band: 20q11.22
Quick LinksEntrez ID:57644; OMIM: 609928; Uniprot ID:MYH7B_HUMAN; ENSEMBL ID: ENSG00000078814; HGNC ID: 15906
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYH7B|57644|nucleotide
ATGAGTGGCAATAAAAGGGGTAGCAGAGCTTCCTGCCCTCACCGTGGTGCCGAGTGCCTGCTGCCTTGGGCCGCCTTGAACCTCCAGGGTTTCCAGCTCCTCCTC
CTTCACCCCAGTGCCACTGCCATGATGGATGTGAGTGAACTTGGGGAGTCTGCCCGCTACCTCCGCCAGGGCTACCAGGAGATGACGAAGGTGCACACTATCCCA
TGGGACGGGAAGAAGCGAGTCTGGGTGCCTGATGAACAGGACGCCTACGTGGAGGCCGAGGTCAAGTCGGAGGCTACCGGGGGCAGAGTCACCGTGGAGACCAAA
GACCAGAAGGTGCTGATGGTGCGTGAAGCCGAGCTGCAGCCCATGAACCCGCCTCGCTTCGACTTACTGGAGGACATGGCCATGATGACGCACCTGAACGAGGCC
TCTGTGCTGCACAACCTGCGCCAGCGCTATGCCCGCTGGATGATCTATACCTACTCAGGCCTCTTCTGTGTCACCATCAACCCCTACAAATGGCTCCCAGTCTAT
ACGGCCTCCGTAGTGGCTGCTTACAAGGGAAAGCGCCGCTCAGATTCCCCGCCCCATATATATGCGGTGGCGGACAACGCCTACAACGACATGCTGCGCAACCGA
GACAACCAGTCCATGCTGATCACCGGAGAGTCGGGGGCCGGTAAGACGGTTAACACCAAGCGGGTCATTCAGTACTTTGCCATCGTCGCTGCCCTGGGAGACGGG
CCGGGCAAGAAGGCCCAATTTCTGGCAACAAAGACGGGGGGCACCCTTGAGGATCAAATCATCGAGGCCAACCCTGCCATGGAGGCCTTTGGCAACGCCAAGACC
CTGAGGAATGATAACTCCTCCCGCTTTGGCAAGTTCATCCGCATTCACTTTGGTCCCTCTGGGAAGCTGGCATCCGCGGATATTGACAGCTATCTCCTGGAGAAG
TCGCGGGTGATCTTCCAGTTGCCTGGTGAGCGCAGCTACCATGTCTACTACCAGATCCTCTCAGGGAGGAAGCCAGAGCTGCAGGACATGCTGCTTCTGTCTATG
AACCCCTATGACTACCACTTCTGCAGCCAGGGCGTCATCACCGTGGACAACATGAATGATGGGGAGGAGCTCATCGCCACCGACCATGCCATGGACATCCTAGGC
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>MYH7B|57644|protein
MSGNKRGSRASCPHRGAECLLPWAALNLQGFQLLLLHPSATAMMDVSELGESARYLRQGYQEMTKVHTIPWDGKKRVWVPDEQDAYVEAEVKSEATGGRVTVETK
DQKVLMVREAELQPMNPPRFDLLEDMAMMTHLNEASVLHNLRQRYARWMIYTYSGLFCVTINPYKWLPVYTASVVAAYKGKRRSDSPPHIYAVADNAYNDMLRNR
DNQSMLITGESGAGKTVNTKRVIQYFAIVAALGDGPGKKAQFLATKTGGTLEDQIIEANPAMEAFGNAKTLRNDNSSRFGKFIRIHFGPSGKLASADIDSYLLEK
SRVIFQLPGERSYHVYYQILSGRKPELQDMLLLSMNPYDYHFCSQGVITVDNMNDGEELIATDHAMDILGFSVDEKCACYKIVGALLHFGNMKFKQKQREEQAEA
DGTESADKAAYLMGVSSGDLLKGLLHPRVRVGNEYVTKGQSVEQVVFAVGALAKATYDRLFRWLVSRINQTLDTKLPRQFFIGVLDIAGFEIFEFNSFEQLCINF
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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) 0 (1) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (4)
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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top