AutismKB 2.0

Evidence Details for ARHGAP19


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Basic Information Top
Gene Symbol:ARHGAP19 ( DKFZp313K217,MGC138804,MGC138805,MGC14258 )
Gene Full Name: Rho GTPase activating protein 19
Band: 10q24.1
Quick LinksEntrez ID:84986; OMIM: 611587; Uniprot ID:RHG19_HUMAN; ENSEMBL ID: ENSG00000213390; HGNC ID: 23724
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARHGAP19|84986|nucleotide
ATGGCGACTGAGGCACAGAGTGAAGGGGAGGTGCCAGCCCGCGAATCCGGCCGGAGTGATGCCATCTGCAGTTTTGTGATCTGCAATGATTCTTCCCTTCGAGGT
CAGCCCATTATCTTTAATCCTGACTTTTTTGTGGAGAAACTCCGACATGAGAAACCTGAGATTTTCACTGAGTTGGTGGTCAGCAATATCACAAGGCTCATCGAT
TTACCTGGAACTGAGTTGGCTCAGCTGATGGGGGAAGTGGACCTTAAGTTGCCTGGCGGGGCTGGCCCAGCATCAGGATTCTTCCGGTCTCTCATGTCTCTCAAG
CGAAAGGAAAAAGGAGTGATATTTGGGTCCCCACTGACGGAGGAAGGCATTGCCCAGATATACCAACTGATTGAGTATCTACACAAAAACTTGCGAGTAGAGGGT
TTGTTTAGAGTACCGGGTAATAGTGTCCGACAGCAGATTTTAAGGGATGCTCTCAATAATGGAACTGACATTGACTTGGAATCAGGGGAATTTCACTCAAATGAT
GTTGCCACTTTGCTGAAGATGTTTCTAGGAGAGTTGCCGGAGCCTCTGCTGACACATAAACACTTCAATGCACACCTCAAAATCGCTGATTTGATGCAGTTTGAT
GATAAAGGAAACAAGACCAATATACCAGACAAGGACCGGCAAATTGAGGCTCTCCAGTTGCTCTTCCTCATTCTCCCTCCTCCTAATCGTAATTTGCTGAAGTTA
TTGCTTGATCTCCTATACCAGACAGCAAAGAAACAAGACAAGAACAAGATGTCAGCCTATAACCTTGCCCTTATGTTTGCACCCCATGTCCTGTGGCCAAAAAAT
GCTCCTGCTTACATTCGGGAGTGTGCGAGATTGCACTATTTGGGATCCAGAACTCAGGCATCAAAGGATGACCTTGACCTCATAGCTTCATGTCATACTAAGTCC
TTTCAGCTGGCAAAGTCTCAGAAACGGAACCGGGTAGATTCCTGCCCTCACCAGGAGGAGACCCAGCACCATACGGAAGAGGCACTGAGAGAGCTGTTTCAACAC
GTTCATGATATGCCAGAGTCAGCAAAGAAGAAACAACTTATTAGACAGTTTAATAAGCAATCATTGACCCAGACACCAGGGCGAGAACCTTCTACTTCCCAGGTA
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>ARHGAP19|84986|protein
MATEAQSEGEVPARESGRSDAICSFVICNDSSLRGQPIIFNPDFFVEKLRHEKPEIFTELVVSNITRLIDLPGTELAQLMGEVDLKLPGGAGPASGFFRSLMSLK
RKEKGVIFGSPLTEEGIAQIYQLIEYLHKNLRVEGLFRVPGNSVRQQILRDALNNGTDIDLESGEFHSNDVATLLKMFLGELPEPLLTHKHFNAHLKIADLMQFD
DKGNKTNIPDKDRQIEALQLLFLILPPPNRNLLKLLLDLLYQTAKKQDKNKMSAYNLALMFAPHVLWPKNAPAYIRECARLHYLGSRTQASKDDLDLIASCHTKS
FQLAKSQKRNRVDSCPHQEETQHHTEEALRELFQHVHDMPESAKKKQLIRQFNKQSLTQTPGREPSTSQVQKRARSRSFSGLIKRKVLGNQMMSEKKKKNPTPES
VAIGELKGTSKENRNLLFSGSPAVTMTPTRLKWSEGKKEGKKGFL
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Hashimoto R, 2016 30 - 38 Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Dou Y, 2017 - 2361 230 Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and
Krupp DR, 2017 - 2264 247 Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
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