AutismKB 2.0

Evidence Details for MYO1A


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Basic Information Top
Gene Symbol:MYO1A ( BBMI,DFNA48,MIHC,MYHL )
Gene Full Name: myosin IA
Band: 12q13.3
Quick LinksEntrez ID:4640; OMIM: 601478; Uniprot ID:MYO1A_HUMAN; ENSEMBL ID: ENSG00000166866; HGNC ID: 7595
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYO1A|4640|nucleotide
ATGCCTCTCCTGGAAGGTTCTGTGGGGGTGGAGGATCTTGTCCTCCTGGAACCCTTGGTGGAGGAGTCACTGCTCAAGAATCTTCAGCTTCGCTATGAAAACAAG
GAGATTTATACCTACATTGGGAATGTGGTGATCTCAGTGAATCCCTATCAACAGCTTCCCATCTATGGGCCAGAGTTCATTGCCAAATATCAAGACTATACTTTC
TATGAGCTGAAGCCCCATATCTACGCATTGGCAAATGTGGCGTACCAGTCACTGAGGGACAGGGACCGAGACCAGTGTATCCTCATCACAGGCGAGAGTGGATCA
GGGAAGACTGAGGCCAGCAAGCTGGTGATGTCTTATGTGGCTGCCGTCTGTGGGAAAGGAGAGCAGGTGAACTCTGTGAAGGAGCAGCTGCTACAGTCTAACCCA
GTGCTGGAGGCTTTTGGCAATGCCAAGACCATTCGCAACAACAATTCCTCCCGATTTGGAAAATACATGGATATTGAATTTGACTTCAAGGGATCCCCCCTCGGT
GGTGTCATCACAAACTATCTGCTTGAGAAATCCCGATTAGTGAAGCAGCTCAAAGGAGAAAGGAACTTCCACATCTTCTATCAGCTGCTGGCTGGAGCAGATGAA
CAGCTGCTGAAGGCCCTGAAGCTTGAGCGGGATACAACTGGCTATGCCTATCTGAATCATGAAGTATCCAGAGTGGATGGCATGGACGACGCCTCCAGCTTCAGG
GCTGTACAGAGTGCAATGGCAGTGATTGGGTTCTCGGAGGAGGAGATTCGACAAGTGCTAGAGGTGACATCCATGGTGCTAAAGCTGGGGAACGTGTTGGTGGCT
GATGAGTTCCAGGCCAGTGGGATACCAGCAAGTGGCATCCGTGATGGGAGAGGTGTTCGGGAGATTGGGGAGATGGTGGGCTTGAATTCAGAAGAAGTAGAGAGA
GCTTTGTGCTCGAGGACCATGGAAACAGCCAAGGAAAAGGTGGTCACTGCACTGAATGTTATGCAGGCTCAGTATGCTCGGGACGCCCTGGCTAAGAACATCTAC
AGCCGCCTCTTTGACTGGATAGTGAATCGAATCAATGAGAGCATCAAGGTGGGCATCGGGGAAAAGAAGAAGGTAATGGGAGTCCTTGATATCTACGGTTTTGAG
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>MYO1A|4640|protein
MPLLEGSVGVEDLVLLEPLVEESLLKNLQLRYENKEIYTYIGNVVISVNPYQQLPIYGPEFIAKYQDYTFYELKPHIYALANVAYQSLRDRDRDQCILITGESGS
GKTEASKLVMSYVAAVCGKGEQVNSVKEQLLQSNPVLEAFGNAKTIRNNNSSRFGKYMDIEFDFKGSPLGGVITNYLLEKSRLVKQLKGERNFHIFYQLLAGADE
QLLKALKLERDTTGYAYLNHEVSRVDGMDDASSFRAVQSAMAVIGFSEEEIRQVLEVTSMVLKLGNVLVADEFQASGIPASGIRDGRGVREIGEMVGLNSEEVER
ALCSRTMETAKEKVVTALNVMQAQYARDALAKNIYSRLFDWIVNRINESIKVGIGEKKKVMGVLDIYGFEILEDNSFEQFVINYCNEKLQQVFIEMTLKEEQEEY
KREGIPWTKVDYFDNGIICKLIEHNQRGILAMLDEECLRPGVVSDSTFLAKLNQLFSKHGHYESKVTQNAQRQYDHTMGLSCFRICHYAGKVTYNVTSFIDKNND
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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 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top