AutismKB 2.0

Evidence Details for MYO19


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Basic Information Top
Gene Symbol:MYO19 ( FLJ22865,MYOHD1 )
Gene Full Name: myosin XIX
Band: 17q12
Quick LinksEntrez ID:80179; OMIM: NA; Uniprot ID:MYO19_HUMAN; ENSEMBL ID: ENSG00000141140; HGNC ID: 26234
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYO19|80179|nucleotide
ATGCTCCAGCAGGTCAATGGCCACAATCCGGGGTCTGATGGCCAAGCCAGGGAGTACCTCAGAGAAGACCTGCAGGAGTTCCTGGGTGGGGAGGTCCTGCTGTAC
AAACTGGATGACCTCACCAGGGTGAATCCTGTGACACTAGAGACAGTCCTGAGGTGCCTGCAGGCCCGGTACATGGCAGACACATTCTACACCAATGCTGGCTGC
ACCCTGGTAGCCTTGAACCCCTTCAAGCCTGTTCCTCAGCTCTACTCGCCCGAGCTAATGAGAGAGTACCATGCTGCGCCTCAGCCCCAGAAACTGAAGCCCCAT
GTGTTCACTGTGGGTGAACAGACCTACAGGAATGTCAAGAGCCTGATTGAACCAGTCAACCAGTCTATTGTTGTCAGTGGAGAGAGTGGTGCTGGAAAGACATGG
ACGTCTCGCTGCCTAATGAAGTTCTATGCTGTGGTGGCCACCTCACCTGCATCTTGGGAGAGCCACAAGATTGCAGAGAGGATAGAACAGAGGATCCTGAACTCC
AACCCTGTCATGGAAGCTTTTGGGAATGCGTGTACACTGAGGAATAACAACAGCAGTCGCTTTGGGAAGTTCATCCAGCTCCAGCTGAACAGGGCTCAGCAAATG
ACTGGAGCCGCAGTCCAGACCTACCTCCTAGAGAAAACTCGAGTGGCCTGCCAGGCTTCCAGTGAGAGGAACTTCCACATCTTCTATCAGATTTGCAAAGGAGCC
AGTGAGGACGAGAGGCTCCAGTGGCACCTTCCTGAGGGAGCTGCCTTCTCCTGGCTGCCCAACCCAGAGAGGAGCTTAGAAGAGGATTGTTTTGAGGTGACCAGA
GAGGCCATGCTCCATTTGGGCATTGACACCCCTACCCAGAACAACATCTTTAAGGTCAGAAGAAAAGCCACGCCACTTAAGTTTGGCAGAGATGACGGGCAGCCC
TTTGCATAG

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>MYO19|80179|protein
MLQQVNGHNPGSDGQAREYLREDLQEFLGGEVLLYKLDDLTRVNPVTLETVLRCLQARYMADTFYTNAGCTLVALNPFKPVPQLYSPELMREYHAAPQPQKLKPH
VFTVGEQTYRNVKSLIEPVNQSIVVSGESGAGKTWTSRCLMKFYAVVATSPASWESHKIAERIEQRILNSNPVMEAFGNACTLRNNNSSRFGKFIQLQLNRAQQM
TGAAVQTYLLEKTRVACQASSERNFHIFYQICKGASEDERLQWHLPEGAAFSWLPNPERSLEEDCFEVTREAMLHLGIDTPTQNNIFKVRRKATPLKFGRDDGQP
FA

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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 (1) 0 (0) 0 (0) 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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Roberts JL, 2014 - aCGH;FISH--autism - - - - 1 - 1
Kanduri C, 2016 Finnish -autism 83 - - - 257 288 545
Linkage Studies Top
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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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