AutismKB 2.0

Evidence Details for SNX29


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Basic Information Top
Gene Symbol:SNX29 ( A-388D4.1,FLJ00143 )
Gene Full Name: sorting nexin 29
Band: 16p13.13-p13.12
Quick LinksEntrez ID:92017; OMIM: NA; Uniprot ID:SNX29_HUMAN; ENSEMBL ID: ENSG00000048471; HGNC ID: 30542
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SNX29|92017|nucleotide
ATGCACAGCTGGGCTCCGCTGAAGGTGCTGCACAATGACTCCGACATCCTCTTCCCTGTCAGTGGCGTGGGCTCCTACAGCCCAGCAGATGCCCCCCTCGGAAGC
CTGGAGAACGGGACAGGACCAGAGGACCACGTTCTCCCAGATCCTGGACTTCGGTACAGTGTGGAAGCCAGCTCTCCAGGCCACGGAAGTCCTCTGAGCAGCCTG
TTACCTTCTGCCTCAGTGCCAGAGTCCATGACAATTAGTGAACTGCGCCAGGCCACTGTGGCCATGATGAACAGGAAGGATGAGCTGGAGGAGGAGAACAGATCA
CTGCGAAACCTGCTCGACGGTGAGATGGAGCACTCAGCCGCGCTCCGGCAAGAGGTGGACACCTTGAAAAGGAAGGTGGCTGAACAGGAGGAGCGGCAGGGCATG
AAGGTCCAGGCGCTGGCCAGAGAGAACGAGGTGCTCAAAGTCCAACTGAAGAAATATGTAGGAGCTGTCCAGATGCTGAAAAGAGAAGGTCAAACAGCTGAAGTG
CCAAATCTTTGGAGTGTTGATGGAGAAGTTACAGTAGCTGAACAGAAGCCGGGAGAAATTGCTGAAGAACTCGCAAGCTCCTACGAAAGAAAGCTCATCGAGGTG
GCAGAGATGCATGGCGAGCTGATTGAGTTCAACGAGCGCCTGCACAGGGCCCTGGTAGCCAAGGAAGCCCTCGTGTCCCAGATGAGGCAGGAGCTCATCGATCTC
CGGGGACCGGTGCCTGGAGATTTGAGTCAAACGTCCGAAGACCAGAGTTTGTCGGATTTTGAAATATCAAACCGGGCGCTGATCAACGTCTGGATCCCCTCAGTG
TTTCTCCGGGGCAAAGCAGCAAATGCATTCCACGTGTATCAGGTCTACATCCGGATAAAAGACGATGAATGGAATATTTATCGCCGGTATACAGAGTTCAGGAGT
TTGCACCACAAGTTACAAAACAAGTACCCTCAAGTGAGGGCCTACAACTTCCCACCCAAAAAGGCCATTGGAAACAAGGATGCCAAGTTTGTGGAGGAACGGAGA
AAGCAGCTCCAGAATTACCTGCGCAGCGTCATGAACAAAGTCATCCAGATGGTCCCCGAGTTCGCTGCCAGCCCCAAGAAGGAGACCCTCATCCAGCTGATGCCC
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>SNX29|92017|protein
MHSWAPLKVLHNDSDILFPVSGVGSYSPADAPLGSLENGTGPEDHVLPDPGLRYSVEASSPGHGSPLSSLLPSASVPESMTISELRQATVAMMNRKDELEEENRS
LRNLLDGEMEHSAALRQEVDTLKRKVAEQEERQGMKVQALARENEVLKVQLKKYVGAVQMLKREGQTAEVPNLWSVDGEVTVAEQKPGEIAEELASSYERKLIEV
AEMHGELIEFNERLHRALVAKEALVSQMRQELIDLRGPVPGDLSQTSEDQSLSDFEISNRALINVWIPSVFLRGKAANAFHVYQVYIRIKDDEWNIYRRYTEFRS
LHHKLQNKYPQVRAYNFPPKKAIGNKDAKFVEERRKQLQNYLRSVMNKVIQMVPEFAASPKKETLIQLMPFFVDITPPGEPVNSRPKAASRFPKLSRGQPRETRN
VEPQSGDL
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (1) 2 (6) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (8)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
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 - -
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
Liu, 2001 USA microsatellite-based genomic screenautism, ASD 110 - 110 - - - -
Lamb, 2005 - microsatellite-based genomic screenautism 207 - 207 - 420 - -
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Spence, 2006 USA microsatellite-based genomic screenASD 133 - 133 - 280 - -
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

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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