AutismKB 2.0

Evidence Details for MYO3A


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Basic Information Top
Gene Symbol:MYO3A ( DFNB30 )
Gene Full Name: myosin IIIA
Band: 10p12.1
Quick LinksEntrez ID:53904; OMIM: 606808; Uniprot ID:MYO3A_HUMAN; ENSEMBL ID: ENSG00000095777; HGNC ID: 7601
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYO3A|53904|nucleotide
ATGTTTCCATTAATTGGAAAAACAATCATCTTTGATAACTTTCCTGATCCTTCTGATACATGGGAAATCACTGAGACAATTGGCAAAGGAACTTATGGGAAAGTT
TTTAAAGTATTGAATAAGAAAAATGGCCAAAAAGCAGCAGTCAAAATTCTTGATCCAATTCACGATATTGACGAAGAGATTGAAGCAGAATATAACATCTTAAAA
GCACTTTCTGACCACCCTAATGTGGTCAGATTCTATGGGATATACTTTAAGAAGGATAAAGTAAATGGAGACAAGCTGTGGTTGGTTCTTGAGCTCTGCAGTGGA
GGATCAGTGACTGACCTTGTGAAAGGATTTCTGAAGAGGGGTGAAAGAATGAGTGAGCCTCTAATTGCCTATATTTTACATGAAGCACTAATGGGACTTCAACAT
TTGCATAACAACAAAACTATCCACAGAGATGTGAAAGGCAATAACATTCTATTGACCACGGAAGGTGGAGTGAAACTAGTAGATTTTGGTGTGTCTGCACAGCTC
ACCAGTACCCGGCACCGTCGGAACACATCCGTAGGAACACCGTTTTGGATGGCTCCTGAGGTGATTGCATGTGAACAGCAATTGGATACCACTTATGACGCCAGA
TGTGACACTTGGTCCCTGGGTATCACGGCCATTGAGCTGGGTGATGGAGATCCTCCACTAGCTGACCTTCATCCCATGAGAGCACTCTTCAAAATACCAAGGAAT
CCACCCCCAAAACTAAGGCAGCCTGAGCTATGGTCAGCAGAATTCAATGACTTCATAAGCAAGTGCTTGACTAAAGATTATGAAAAGCGTCCAACAGTGTCAGAA
CTTTTACAGCATAAATTCATTACTCAAATTGAGGGCAAAGATGTGATGCTACAAAAACAACTAACGGAATTCATTGGCATCCATCAATGCATGGGAGGCACAGAA
AAGGCCAGACGTGAACGTATTCACACGAAGAAAGGGAACTTCAACCGACCTCTAATATCCAATCTGAAGGATGTAGATGATTTAGCAACCCTAGAAATTTTGGAT
GAGAATACAGTCTCAGAGCAACTTGAGAAGTGTTATTCCAGAGATCAGATCTACGTCTATGTGGGAGACATACTCATTGCTCTTAACCCTTTTCAGAGTCTGGGT
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>MYO3A|53904|protein
MFPLIGKTIIFDNFPDPSDTWEITETIGKGTYGKVFKVLNKKNGQKAAVKILDPIHDIDEEIEAEYNILKALSDHPNVVRFYGIYFKKDKVNGDKLWLVLELCSG
GSVTDLVKGFLKRGERMSEPLIAYILHEALMGLQHLHNNKTIHRDVKGNNILLTTEGGVKLVDFGVSAQLTSTRHRRNTSVGTPFWMAPEVIACEQQLDTTYDAR
CDTWSLGITAIELGDGDPPLADLHPMRALFKIPRNPPPKLRQPELWSAEFNDFISKCLTKDYEKRPTVSELLQHKFITQIEGKDVMLQKQLTEFIGIHQCMGGTE
KARRERIHTKKGNFNRPLISNLKDVDDLATLEILDENTVSEQLEKCYSRDQIYVYVGDILIALNPFQSLGLYSTKHSKLYIGSKRTASPPHIFAMADLGYQSMIT
YNSDQCIVISGESGAGKTENAHLLVQQLTVLGKANNRTLQEKILQVNNLVEAFGNACTIINDNSSRFGKYLEMKFTSSGAVVGAQISEYLLEKSRVIHQAIGEKN
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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 (0) 1 (2) 0 (0) 0 (0) 0 (0) 0 (2) 0 (1) 0 (0) 2 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top