AutismKB 2.0

Evidence Details for MYO1H


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Basic Information Top
Gene Symbol:MYO1H ( FLJ37587 )
Gene Full Name: myosin IH
Band: 12q24.11
Quick LinksEntrez ID:283446; OMIM: NA; Uniprot ID:B4DNW6_HUMAN; ENSEMBL ID: ENSG00000174527; HGNC ID: 13879
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYO1H|283446|nucleotide
ATGGAAGGGGCGCTGACTGCCCGGGACAAGGTCGGGGTTCAGGATTTTGTGCTATTGGACGCGTACACCAGCGAATCTGCCTTTGTCGACAACCTCCGCAAGCGT
TTCAGCGAGAACCTCATATACACATATATTGGCACCCTCCTTGTGTCTGTGAATCCATACCAGGAGCTCGGAATCTACACTGTGAGCCAGATGGAACTTTATCAA
GGGGTCAATTTCTTTGAACTGCCACCACATGTCTACGCTATAGCCGACAACGCTTACCGAATGATGTGTGCTGAACTAAATAACCATTTCATCCTCATTTCTGGA
GAGAGTGGGGCAGGGAAAACAGAGGCCTCCAAGAAAATTCTCGAGTATTTTGCAGTGACCTGCCCAATGACCCAGTCACTACAAATAGCCCGTGACAGACTGCTG
TTCTCCAACCCAGTGCTGGAGGCTTTTGGAAATGCCAGAACGCTCCGGAATGACAACTCCAGCAGATTTGGGAAATACATGGATATACAATTTGATTTTCAGGGC
ATTCCCGTAGGTGGGCATATCATCAGTTACTTGATAGAGAAGTCCCGAGTTGTCTACCAAAACGAAGGCGAGCGGAATTTCCACATCTTCTACCAGCTGCTGGCA
GGTGGCGAAGAGGAGCGCCTGTCTTACCTGGGACTCGAGCGAGACCCCCAGCTGTATAAATACCTCTCACAGGGTCATTGTGCCAAAGAGTCATCCATTAGTGAC
AAGAATGACTGGAAAACTGTTTCCAACGCCTTTTCTGTCATTGATTTTACTGAAGCTGACCTCGAGAATCTCTTTGGAATTATTGCCAGTGTCTTACACCTGGGG
AACATTGGTTTTGAAGAAGACGACCAAGGCTGTGCCACTATCCCAGACACCCATGAGATCAAGTGGATAGCCAAGCTCCTGGGGGTCCACCCATCAGTCCTTCTG
GAAGCTCTCACCCACAGAAAAATTGAAGCCAAAACTGAGGAGGTGATCTGCCCGTTGACACTAGAACTCTCTGTCTACGCTAGAGATGCAATGGCAAAGGCTGTT
TATGGACGAACGTTTACTTGGCTGGTCAACAAAATCAATTCCTCCTTAGTTAACAAGGATTTCACCAGGAAAACTGTAATTGGATTACTGGACATCTATGGGTTT
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>MYO1H|283446|protein
MEGALTARDKVGVQDFVLLDAYTSESAFVDNLRKRFSENLIYTYIGTLLVSVNPYQELGIYTVSQMELYQGVNFFELPPHVYAIADNAYRMMCAELNNHFILISG
ESGAGKTEASKKILEYFAVTCPMTQSLQIARDRLLFSNPVLEAFGNARTLRNDNSSRFGKYMDIQFDFQGIPVGGHIISYLIEKSRVVYQNEGERNFHIFYQLLA
GGEEERLSYLGLERDPQLYKYLSQGHCAKESSISDKNDWKTVSNAFSVIDFTEADLENLFGIIASVLHLGNIGFEEDDQGCATIPDTHEIKWIAKLLGVHPSVLL
EALTHRKIEAKTEEVICPLTLELSVYARDAMAKAVYGRTFTWLVNKINSSLVNKDFTRKTVIGLLDIYGFEVFDKNGFEQFCINYCNEKLQQLLIERTLKAEQAE
YEMEGIEWEPIKYFNNKIICDLVEERHKGIISILDEECIRPGPATDLSFLEKLEEKVGKHAHFETRKLAGPKGRKRIGWMEFRLLHYAGEVTYCTKGFLEKNNDL
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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) 0 (0) 0 (0) 0 (0) 1 (1) 1 (1) 0 (0) 0 (0) 11 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top