AutismKB 2.0

Evidence Details for MYOM1


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Basic Information Top
Gene Symbol:MYOM1 ( MGC134946,MGC134947,SKELEMIN )
Gene Full Name: myomesin 1, 185kDa
Band: 18p11.31
Quick LinksEntrez ID:8736; OMIM: 603508; Uniprot ID:MYOM1_HUMAN; ENSEMBL ID: ENSG00000101605; HGNC ID: 7613
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYOM1|8736|nucleotide
ATGTCTTTGCCTTTTTATCAGAGGTGCCACCAGCACTATGATCTCAGCTACCGCAACAAGGACGTGCGCAGCACCGTGAGTCACTACCAGCGGGAGAAGAAACGC
TCCGCCGTCTACACCCAGGGCTCCACGGCCTACAGCAGCCGCTCCTCCGCCGCGCACCGCCGGGAGTCCGAGGCCTTCCGTCGGGCGTCCGCCTCCTCCTCCCAG
CAGCAGGCCTCGCAGCACGCCCTGAGCTCTGAAGTCAGTCGGAAGGCAGCCTCAGCCTACGATTATGGCTCCTCCCATGGACTTACAGATTCCAGTCTGCTGTTA
GATGATTATTCATCCAAGTTGAGCCCCAAACCAAAGAGAGCCAAGCACAGCCTACTGTCTGGAGAAGAGAAAGAAAATTTGCCCAGTGACTACATGGTACCCATT
TTCTCAGGACGTCAAAAGCATGTCAGTGGAATTACTGATACGGAAGAAGAAAGAATTAAAGAAGCTGCTGCTTATATAGCCCAGAGGAATCTTCTTGCTAGTGAG
GAAGGAATCACAACATCTAAACAGTCCACGGCATCCAAGCAGACCACGGCATCTAAGCAGTCCACGGCATCCAAGCAGTCCACAGCATCCAAGCAGTCCACGGCA
TCCAGGCAGTCCACGGCATCCAGGCAGTCTGTGGTTTCCAAACAGGCCACATCCGCTCTTCAACAGGAAGAAACTTCTGAAAAGAAGTCAAGGAAAGTTGTGATT
CGAGAAAAGGCAGAACGCCTGTCCCTGAGGAAAACATTAGAAGAAACCGAGACATATCATGCCAAGCTGAATGAAGACCATCTTCTCCATGCTCCTGAGTTTATC
ATTAAACCTCGCTCCCACACGGTTTGGGAGAAGGAGAATGTAAAATTGCATTGCTCCATAGCAGGCTGGCCAGAACCTCGTGTCACGTGGTATAAAAACCAGGTG
CCAATAAATGTCCATGCAAACCCTGGAAAGTATATTATTGAGAGTCGATATGGGATGCACACTCTGGAGATTAATGGATGTGATTTTGAAGATACAGCTCAGTAC
CGGGCCTCGGCGATGAATGTTAAAGGAGAGCTTTCGGCATATGCTTCAGTTGTGGTAAAAAGGTATAAGGGAGAGTTTGATGAGACTCGCTTCCACGCTGGGGCT
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>MYOM1|8736|protein
MSLPFYQRCHQHYDLSYRNKDVRSTVSHYQREKKRSAVYTQGSTAYSSRSSAAHRRESEAFRRASASSSQQQASQHALSSEVSRKAASAYDYGSSHGLTDSSLLL
DDYSSKLSPKPKRAKHSLLSGEEKENLPSDYMVPIFSGRQKHVSGITDTEEERIKEAAAYIAQRNLLASEEGITTSKQSTASKQTTASKQSTASKQSTASKQSTA
SRQSTASRQSVVSKQATSALQQEETSEKKSRKVVIREKAERLSLRKTLEETETYHAKLNEDHLLHAPEFIIKPRSHTVWEKENVKLHCSIAGWPEPRVTWYKNQV
PINVHANPGKYIIESRYGMHTLEINGCDFEDTAQYRASAMNVKGELSAYASVVVKRYKGEFDETRFHAGASTMPLSFGVTPYGYASRFEIHFDDKFDVSFGREGE
TMSLGCRVVITPEIKHFQPEIQWYRNGVPLSPSKWVQTLWSGERATLTFSHLNKEDEGLYTIRVRMGEYYEQYSAYVFVRDADAEIEGAPAAPLDVKCLEANKDY
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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 (1) 0 (0) 0 (1) 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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top