AutismKB 2.0

Evidence Details for MYO9A


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Basic Information Top
Gene Symbol:MYO9A ( FLJ11061,FLJ13244,MGC71859 )
Gene Full Name: myosin IXA
Band: 15q23
Quick LinksEntrez ID:4649; OMIM: 604875; Uniprot ID:MYO9A_HUMAN; ENSEMBL ID: ENSG00000066933; HGNC ID: 7608
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYO9A|4649|nucleotide
ATGAATATAAATGATGGAGGAAGACGACGCTTTGAAGATAATGAACATACATTACGGATATATCCTGGGGCTATTTCAGAAGGGACAATCTACTGTCCGATTCCT
GCCAGAAAAAACTCCACAGCTGCTGAGGTGATTGAGTCTCTTATAAACAAACTTCATCTTGACAAAACAAAATGTTATGTTCTAGCAGAGGTAAAGGAATTTGGT
GGAGAAGAATGGATTCTCAATCCAACAGATTGTCCAGTTCAGCGAATGATGCTGTGGCCCCGAATGGCTCTGGAAAATCGCTTAAGTGGAGAGGACTACCGCTTC
CTTCTGAGAGAGAAAAACCTTGATGGATCAATCCATTATGGTAGCCTGCAGTCATGGCTACGGGTAACAGAAGAACGTCGCAGGATGATGGAACGGGGTTTTCTT
CCACAGCCTCAACAGAAAGACTTTGATGATTTATGTAGTTTACCTGATTTGAATGAGAAAACTCTCTTAGAAAACCTACGAAATCGCTTTAAGCATGAAAAAATT
TATACCTATGTTGGCAGTATTCTAATAGTTATTAACCCATTCAAGTTTCTTCCTATTTATAACCCCAAATATGTCAAAATGTATGATAACCACCAACTGGGAAAA
CTTGAGCCCCACATTTATGCTGTGGCTGATGTAGCTTATCATGCCATGCTTCAGCGCAAAAAGAATCAGTGCATCGTGATTTCAGGAGAGAGTGGTTCTGGGAAG
ACTCAAAGCACAAACTTTCTTATTCACCACCTTACTGCTCTCAGTCAGAAAGGATTTGCCAGTGGAGTAGAACAGATTATTCTTGGAGCTGGACCAGTACTTGAG
GCCTTTGGAAATGCAAAGACAGCTCATAATAACAATTCAAGTCGTTTTGGGAAGTTTATTCAAGTAAATTACCAGGAAACAGGCACTGTACTTGGTGCCTATGTT
GAAAAATATCTACTGGAGAAGTCCAGACTCGTTTATCAGGAGCATAATGAACGGAACTATCATGTATTCTATTACCTCCTGGCAGGAGCAAGTGAAGATGAGAGA
TCAGCATTCCATCTTAAGCAACCAGAGGAATATCATTATCTCAATCAGATAACAAAGAAACCCCTCAGACAGAGCTGGGATGATTATTGCTATGACTCTGAGCCG
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>MYO9A|4649|protein
MNINDGGRRRFEDNEHTLRIYPGAISEGTIYCPIPARKNSTAAEVIESLINKLHLDKTKCYVLAEVKEFGGEEWILNPTDCPVQRMMLWPRMALENRLSGEDYRF
LLREKNLDGSIHYGSLQSWLRVTEERRRMMERGFLPQPQQKDFDDLCSLPDLNEKTLLENLRNRFKHEKIYTYVGSILIVINPFKFLPIYNPKYVKMYDNHQLGK
LEPHIYAVADVAYHAMLQRKKNQCIVISGESGSGKTQSTNFLIHHLTALSQKGFASGVEQIILGAGPVLEAFGNAKTAHNNNSSRFGKFIQVNYQETGTVLGAYV
EKYLLEKSRLVYQEHNERNYHVFYYLLAGASEDERSAFHLKQPEEYHYLNQITKKPLRQSWDDYCYDSEPDCFTVEGEDLRHDFERLQLAMEMVGFLPKTRRQIF
SLLSAILHLGNICYKKKTYRDDSIDICNPEVLPIVSELLEVKEEMLFEALVTRKTVTVGEKLILPYKLAEAVTVRNSMAKSLYSALFDWIVFRINHALLNSKDLE
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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) 1 (5) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (6)
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
Smith, 2000 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top