AutismKB 2.0

Evidence Details for PAFAH1B2


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Basic Information Top
Gene Symbol:PAFAH1B2 ( - )
Gene Full Name: platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)
Band: 11q23
Quick LinksEntrez ID:5049; OMIM: 602508; Uniprot ID:PA1B2_HUMAN; ENSEMBL ID: ENSG00000168092; HGNC ID: 8575
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PAFAH1B2|5049|nucleotide
ATGAGCCAAGGAGACTCAAACCCAGCAGCTATTCCGCATGCAGCAGAAGATATTCAAGGAGATGACCGATGGATGTCTCAGCACAACAGATTTGTTTTGGACTGT
AAAGACAAAGAGCCTGATGTACTGTTCGTGGGAGACTCCATGGTGCAGTTAATGCAGCAATATGAGATATGGCGAGAGCTTTTTTCCCCACTTCATGCACTGAAT
TTTGGAATTGGGGGAGATACAACAAGACATGTTTTGTGGAGACTAAAGAATGGAGAACTGGAGAATATTAAGCCTAAGGTCATTGTTGTCTGGGTAGGAACAAAT
AACCACGAAAATACAGCAGAAGAAGTAGCAGGTGGGATCGAGGCCATTGTACAACTTATCAACACAAGGCAGCCACAGGCCAAAATCATTGTATTGGGTAAAGCA
GCCGCCTCCAAATACTCTATCTCAGAGATAGTGAGACTAGAACAAGGGTCGGTTAACTGGTCGATCGGGACCTATCCTGATGACACACCAGCAACTACCAGGCCA
GCAATATTACAATTATTTACTGGCAAGATGAGCAGGATTACCATGAAAGAAAAGTCCAGATGGACTGAGGAAATCCTACACTGA





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>PAFAH1B2|5049|protein
MSQGDSNPAAIPHAAEDIQGDDRWMSQHNRFVLDCKDKEPDVLFVGDSMVQLMQQYEIWRELFSPLHALNFGIGGDTTRHVLWRLKNGELENIKPKVIVVWVGTN
NHENTAEEVAGGIEAIVQLINTRQPQAKIIVLGKAAASKYSISEIVRLEQGSVNWSIGTYPDDTPATTRPAILQLFTGKMSRITMKEKSRWTEEILH



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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 (2) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 10 (3)
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 - - - - -
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, 2012 - 343 50 De novo gene disruptions in children on the autistic spectrum.
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