AutismKB 2.0

Evidence Details for MYO5A


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Basic Information Top
Gene Symbol:MYO5A ( GS1,MYH12,MYO5,MYR12 )
Gene Full Name: myosin VA (heavy chain 12, myoxin)
Band: 15q21.2
Quick LinksEntrez ID:4644; OMIM: 160777; Uniprot ID:MYO5A_HUMAN; ENSEMBL ID: ENSG00000197535; HGNC ID: 7602
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYO5A|4644|nucleotide
ATGGCTGCGTCGGAGCTCTACACAAAGTTTGCCAGGGTTTGGATACCTGATCCAGAGGAAGTCTGGAAGTCAGCAGAGCTGCTCAAAGATTATAAGCCAGGAGAT
AAAGTCCTCCTGCTTCACCTCGAGGAAGGAAAGGATTTGGAATACCATCTAGATCCAAAGACCAAGGAGCTGCCTCACTTACGAAATCCTGACATACTTGTTGGT
GAAAATGACCTCACAGCCCTCAGCTATCTTCATGAGCCTGCTGTGCTCCATAATCTCAGAGTCCGCTTTATTGATTCCAAACTTATTTATACGTATTGTGGTATA
GTCCTAGTAGCTATAAATCCCTATGAACAGCTGCCTATTTATGGAGAAGATATTATTAATGCATACAGTGGTCAGAACATGGGTGATATGGATCCACATATCTTT
GCAGTAGCTGAAGAAGCTTACAAGCAAATGGCCAGAGATGAACGAAATCAGTCCATCATCGTAAGTGGAGAGTCTGGGGCAGGAAAAACAGTCTCAGCTAAGTAT
GCCATGCGATACTTTGCAACTGTGAGTGGTTCTGCCAGTGAGGCCAATGTGGAGGAAAAGGTCTTGGCCTCCAACCCCATCATGGAGTCCATTGGAAATGCTAAA
ACAACCAGGAATGATAATAGCAGCCGTTTTGGGAAGTATATTGAGATTGGTTTTGATAAGAGATATCGAATCATTGGTGCCAATATGAGAACTTATCTTTTAGAG
AAATCCAGAGTGGTATTCCAGGCAGAAGAGGAGAGAAACTATCATATCTTCTATCAGCTTTGTGCCTCAGCAAAGTTACCTGAATTTAAAATGCTACGATTAGGA
AATGCAGATAACTTTAATTACACAAAACAAGGAGGCAGTCCTGTGATTGAAGGAGTGGATGATGCAAAGGAGATGGCACATACTAGGCAGGCCTGCACTTTGCTA
GGAATTAGTGAATCTCATCAAATGGGAATTTTCCGAATACTTGCTGGCATCCTTCACTTAGGCAATGTTGGATTTACATCCCGAGATGCAGACAGCTGCACAATA
CCTCCCAAGCATGAACCTCTCTGCATCTTCTGTGACCTCATGGGTGTGGACTATGAGGAGATGTGTCACTGGCTCTGCCATCGGAAACTGGCTACTGCCACAGAG
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>MYO5A|4644|protein
MAASELYTKFARVWIPDPEEVWKSAELLKDYKPGDKVLLLHLEEGKDLEYHLDPKTKELPHLRNPDILVGENDLTALSYLHEPAVLHNLRVRFIDSKLIYTYCGI
VLVAINPYEQLPIYGEDIINAYSGQNMGDMDPHIFAVAEEAYKQMARDERNQSIIVSGESGAGKTVSAKYAMRYFATVSGSASEANVEEKVLASNPIMESIGNAK
TTRNDNSSRFGKYIEIGFDKRYRIIGANMRTYLLEKSRVVFQAEEERNYHIFYQLCASAKLPEFKMLRLGNADNFNYTKQGGSPVIEGVDDAKEMAHTRQACTLL
GISESHQMGIFRILAGILHLGNVGFTSRDADSCTIPPKHEPLCIFCDLMGVDYEEMCHWLCHRKLATATETYIKPISKLQATNARDALAKHIYAKLFNWIVDNVN
QALHSAVKQHSFIGVLDIYGFETFEINSFEQFCINYANEKLQQQFNMHVFKLEQEEYMKEQIPWTLIDFYDNQPCINLIESKLGILDLLDEECKMPKGTDDTWAQ
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top