AutismKB 2.0

Evidence Details for MYO9B


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Basic Information Top
Gene Symbol:MYO9B ( CELIAC4,MYR5 )
Gene Full Name: myosin IXB
Band: 19p13.11
Quick LinksEntrez ID:4650; OMIM: 602129; Uniprot ID:B0I1T6_HUMAN; ENSEMBL ID: ENSG00000099331; HGNC ID: 7609
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYO9B|4650|nucleotide
ATGAGTGTGAAAGAGGCAGGCAGCTCGGGCCGCCGGGAGCAGGCGGCCTACCACCTGCACATCTACCCCCAGCTGTCCACCACCGAGAGCCAGGCCTCGTGCCGC
GTGACTGCCACCAAGGACAGCACCACCTCGGACGTCATCAAGGACGCCATTGCCAGCCTGCGGCTGGACGGCACCAAATGTTATGTGCTGGTGGAGGTCAAAGAG
TCGGGAGGCGAGGAATGGGTGCTGGACGCCAACGACTCGCCTGTGCACCGGGTGCTGCTATGGCCCCGGCGGGCACAGGACGAGCACCCTCAGGAGGATGGCTAC
TACTTCCTGCTGCAGGAGCGCAACGCAGATGGAACCATCAAGTACGTGCATATGCAGCTGGTGGCGCAGGCCACAGCCACCCGGCGCCTAGTGGAGCGTGGCCTC
CTGCCACGGCAGCAGGCGGACTTTGATGACCTGTGTAACCTCCCCGAGCTAACCGAGGGCAACCTCCTGAAGAACCTCAAGCACCGCTTCCTGCAACAAAAGATC
TACACGTACGCGGGGAGCATCCTGGTGGCCATCAACCCCTTTAAGTTCCTGCCCATCTACAACCCCAAGTACGTGAAGATGTATGAGAACCAGCAGCTGGGCAAG
CTGGAGCCACACGTCTTCGCGCTGGCCGACGTGGCCTACTACACCATGCTCAGGAAGCGCGTGAACCAGTGCATCGTGATCTCGGGTGAGAGCGGCTCCGGCAAG
ACCCAGAGCACCAACTTCCTCATCCACTGCCTCACCGCCCTCAGCCAGAAGGGCTACGCCAGCGGCGTCGAGAGGACCATCCTGGGTGCTGGCCCTGTGCTGGAG
GCTTTTGGAAATGCCAAGACAGCCCACAACAACAACTCCAGCCGGTTTGGGAAATTCATCCAAGTCAGCTACCTAGAGAGTGGCATCGTGAGAGGAGCTGTCGTC
GAGAAATATCTGCTTGAAAAGTCTCGCCTGGTGTCTCAGGAGAAGGATGAGAGGAACTACCATGTGTTTTATTATTTGTTACTTGGGGTCAGCGAGGAAGAGCGC
CAAGAATTTCAGCTCAAGCAGCCTGAAGATTATTTCTACCTCAACCAGCATAACTTGAAGATTGAAGATGGGGAGGACCTGAAGCATGACTTTGAGAGGCTCAAG
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>MYO9B|4650|protein
MSVKEAGSSGRREQAAYHLHIYPQLSTTESQASCRVTATKDSTTSDVIKDAIASLRLDGTKCYVLVEVKESGGEEWVLDANDSPVHRVLLWPRRAQDEHPQEDGY
YFLLQERNADGTIKYVHMQLVAQATATRRLVERGLLPRQQADFDDLCNLPELTEGNLLKNLKHRFLQQKIYTYAGSILVAINPFKFLPIYNPKYVKMYENQQLGK
LEPHVFALADVAYYTMLRKRVNQCIVISGESGSGKTQSTNFLIHCLTALSQKGYASGVERTILGAGPVLEAFGNAKTAHNNNSSRFGKFIQVSYLESGIVRGAVV
EKYLLEKSRLVSQEKDERNYHVFYYLLLGVSEEERQEFQLKQPEDYFYLNQHNLKIEDGEDLKHDFERLKQAMEMVGFLPATKKQIFAVLSAILYLGNVTYKKRA
TGREEGLEVGPPEVLDTLSQLLKVKREILVEVLTKRKTVTVNDKLILPYSLSEAITARDSMAKSLYSALFDWIVLRINHALLNKKDVEEAVSCLSIGVLDIFGFE
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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 (1) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 12 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
McCauley, 2005 - microsatellite-based genomic screenautism 158 - 158 - 333 - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018