AutismKB 2.0

Evidence Details for SNX19


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Basic Information Top
Gene Symbol:SNX19 ( CHET8,DKFZp667I205,KIAA0254 )
Gene Full Name: sorting nexin 19
Band: 11q24.3-q25
Quick LinksEntrez ID:399979; OMIM: NA; Uniprot ID:SNX19_HUMAN; ENSEMBL ID: ENSG00000120451; HGNC ID: 21532
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SNX19|399979|nucleotide
ATGAAGACAGAAACAGTGCCACCGTTCCAGGAAACTCCAGCTGGATCGAGCTGTCACCTCAATAACCTGTTGAGTAGCCGGAAGCTGATGGCTGTGGGGGTCTTG
CTTGGCTGGCTCCTGGTCATACACCTTCTGGTCAACGTGTGGCTGCTGTGCCTTCTGTCGGCATTGCTAGTGGTGCTGGGAGGATGGCTGGGCTCCAGCCTCGCT
GGAGTGGCTTCAGGTCGACTGCATCTGGAACGCTTCATCCCGTTGGCCACCTGTCCTCCATGCCCTGAGGCAGAAAGGCAGCTGGAACGGGAGATCAACCGCACC
ATCCAGATGATTATTCGAGATTTTGTGTTATCTTGGTACCGTTCCGTGAGCCAGGAGCCAGCCTTTGAGGAAGAAATGGAGGCAGCCATGAAAGGGTTGGTCCAG
GAGCTTCGGAGAAGGATGAGCGTGATGGACAGTCATGCTGTTGCCCAGAGTGTTCTGACTCTCTGCGGTTGTCACCTGCAGAGCTACATTCAGGCAAAGGAGGCC
ACTGCAGGGAAGAATGGTCCAGTTGAGCCTTCCCACCTCTGGGAGGCTTACTGCCGGGCGACTGCCCCACATCCTGCTGTGCACAGCCCCAGTGCTGAAGTCACC
TATACGCGTGGCGTTGTGAATTTGTTGCTTCAAGGGCTGGTGCCCAAGCCCCACTTGGAGACTCGTACCGGACGCCATGTAGTGGTCGAACTCATCACATGCAAT
GTAATCTTACCACTGATCAGCAGGCTGTCAGATCCTGACTGGATCCACCTTGTACTCGTGGGTATCTTTTCCAAGGCCAGAGATCCAGCACCCTGCCCAGCCAGT
GCCCCCGAACAGCCCTCAGTGCCGACATCTCTGCCACTGATTGCTGAGGTAGAGCAGCTTCCAGAAGGGAGAGCTTCTCCAGTAGCAGCCCCAGTATTCCTAAGT
TACAGTGAGCCAGAGGGTTCTGCAGGCCCCTCTCCAGAGGTTGAAGAAGGCCACGAAGCTGTAGAGGGAGATTTGGGTGGGATGTGTGAAGAAAGAAAAGTAGGA
AACAACTCATCTCATTTCCTACAGCCAAATGTTCGAGGTCCCCTGTTCTTATGTGAAGACTCAGAGCTGGAGTCTCCGCTGTCTGAACTGGGCAAAGAAACCATC
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>SNX19|399979|protein
MKTETVPPFQETPAGSSCHLNNLLSSRKLMAVGVLLGWLLVIHLLVNVWLLCLLSALLVVLGGWLGSSLAGVASGRLHLERFIPLATCPPCPEAERQLEREINRT
IQMIIRDFVLSWYRSVSQEPAFEEEMEAAMKGLVQELRRRMSVMDSHAVAQSVLTLCGCHLQSYIQAKEATAGKNGPVEPSHLWEAYCRATAPHPAVHSPSAEVT
YTRGVVNLLLQGLVPKPHLETRTGRHVVVELITCNVILPLISRLSDPDWIHLVLVGIFSKARDPAPCPASAPEQPSVPTSLPLIAEVEQLPEGRASPVAAPVFLS
YSEPEGSAGPSPEVEEGHEAVEGDLGGMCEERKVGNNSSHFLQPNVRGPLFLCEDSELESPLSELGKETIMLMTPGSFLSDRIQDALCALESSQALEPKDGEASE
GAEAEEGPGTETETGLPVSTLNSCPEIHIDTADKEIEQGDVTASVTALLEGPEKTCPSRPSCLEKDLTNDVSSLDPTLPPVLLSSSPPGPLSSATFSFEPLSSPD
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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 (3) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (5)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Maruani A, 2015 - -ASD - - - - 1256 1287 2543
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.
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
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