AutismKB 2.0

Evidence Details for SNX33


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Basic Information Top
Gene Symbol:SNX33 ( MGC32065,SH3PX3,SH3PXD3C,SNX30 )
Gene Full Name: sorting nexin 33
Band: 15q24.2
Quick LinksEntrez ID:257364; OMIM: NA; Uniprot ID:SNX33_HUMAN; ENSEMBL ID: ENSG00000173548; HGNC ID: 28468
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SNX33|257364|nucleotide
ATGGCACTGAAAGGCCGAGCCCTCTATGACTTTCACAGTGAGAACAAGGAGGAAATCAGCATCCAGCAGGATGAGGACCTGGTCATCTTTAGCGAGACCTCACTG
GATGGCTGGCTGCAGGGCCAGAACAGCCGTGGGGAGACAGGGCTCTTTCCTGCCTCTTATGTGGAGATCGTCCGTTCTGGCATCAGCACCAACCATGCTGACTAC
TCCAGCAGCCCTGCAGGCTCTCCCGGAGCCCAGGTGAGCTTGTACAACAGCCCCAGTGTGGCCAGCCCAGCTAGGAGTGGTGGGGGCAGTGGCTTCCTCTCAAAC
CAGGGTAGCTTTGAGGAGGATGATGATGATGACTGGGATGACTGGGACGACGGATGCACAGTGGTGGAGGAGCCACGGGCTGGTGGGCTGGGCACCAACGGGCAC
CCTCCCCTCAACCTCTCCTACCCTGGTGCCTACCCCAGCCAGCACATGGCCTTCCGGCCCAAGCCACCACTGGAGCGGCAGGACAGCCTGGCATCTGCCAAGCGA
GGCAGTGTGGTGGGCCGTAACCTCAACCGTTTCTCATGCTTTGTGCGTTCTGGAGTGGAGGCCTTCATCCTGGGTGATGTGCCCATGATGGCCAAGATCGCTGAG
ACATACTCCATTGAAATGGGCCCTCGTGGCCCCCAGTGGAAGGCCAATCCCCACCCATTTGCCTGCTCTGTGGAGGACCCCACAAAACAGACCAAATTCAAGGGC
ATCAAAAGCTACATCTCCTACAAGCTCACACCCACCCATGCTGCCTCACCCGTCTACCGGCGCTACAAACACTTTGACTGGCTCTATAACCGCCTGCTACACAAG
TTCACTGTCATCTCGGTGCCCCACCTGCCTGAGAAGCAGGCCACTGGCCGCTTCGAGGAGGACTTCATCGAAAAGCGGAAGCGGAGACTCATCCTCTGGATGGAC
CACATGACCAGCCACCCTGTGCTCTCCCAGTACGAAGGCTTCCAGCATTTCCTCAGCTGCCTGGATGACAAGCAGTGGAAGATGGGCAAACGCCGGGCGGAGAAG
GATGAGATGGTGGGTGCCAGCTTCCTGCTCACCTTCCAGATCCCCACCGAGCACCAGGACTTGCAGGACGTGGAAGATCGCGTGGACACTTTCAAGGCCTTCAGT
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>SNX33|257364|protein
MALKGRALYDFHSENKEEISIQQDEDLVIFSETSLDGWLQGQNSRGETGLFPASYVEIVRSGISTNHADYSSSPAGSPGAQVSLYNSPSVASPARSGGGSGFLSN
QGSFEEDDDDDWDDWDDGCTVVEEPRAGGLGTNGHPPLNLSYPGAYPSQHMAFRPKPPLERQDSLASAKRGSVVGRNLNRFSCFVRSGVEAFILGDVPMMAKIAE
TYSIEMGPRGPQWKANPHPFACSVEDPTKQTKFKGIKSYISYKLTPTHAASPVYRRYKHFDWLYNRLLHKFTVISVPHLPEKQATGRFEEDFIEKRKRRLILWMD
HMTSHPVLSQYEGFQHFLSCLDDKQWKMGKRRAEKDEMVGASFLLTFQIPTEHQDLQDVEDRVDTFKAFSKKMDDSVLQLSTVASELVRKHVGGFRKEFQKLGSA
FQAISHSFQMDPPFCSEALNSAISHTGRTYEAIGEMFAEQPKNDLFQMLDTLSLYQGLLSNFPDIIHLQKGAFAKVKESQRMSDEGRMVQDEADGIRRRCRVVGF
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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 (4) 0 (0) 0 (0) 0 (0) 0 (1) 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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
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
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
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