AutismKB 2.0

Evidence Details for PLA2G7


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Basic Information Top
Gene Symbol:PLA2G7 ( LDL-PLA2,LP-PLA2,PAFAH )
Gene Full Name: phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
Band: 6p12.3
Quick LinksEntrez ID:7941; OMIM: 601690; Uniprot ID:PAFA_HUMAN; ENSEMBL ID: ENSG00000146070; HGNC ID: 9040
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLA2G7|7941|nucleotide
ATGGTGCCACCCAAATTGCATGTGCTTTTCTGCCTCTGCGGCTGCCTGGCTGTGGTTTATCCTTTTGACTGGCAATACATAAATCCTGTTGCCCATATGAAATCA
TCAGCATGGGTCAACAAAATACAAGTACTGATGGCTGCTGCAAGCTTTGGCCAAACTAAAATCCCCCGGGGAAATGGGCCTTATTCCGTTGGTTGTACAGACTTA
ATGTTTGATCACACTAATAAGGGCACCTTCTTGCGTTTATATTATCCATCCCAAGATAATGATCGCCTTGACACCCTTTGGATCCCAAATAAAGAATATTTTTGG
GGTCTTAGCAAATTTCTTGGAACACACTGGCTTATGGGCAACATTTTGAGGTTACTCTTTGGTTCAATGACAACTCCTGCAAACTGGAATTCCCCTCTGAGGCCT
GGTGAAAAATATCCACTTGTTGTTTTTTCTCATGGTCTTGGGGCATTCAGGACACTTTATTCTGCTATTGGCATTGACCTGGCATCTCATGGGTTTATAGTTGCT
GCTGTAGAACACAGAGATAGATCTGCATCTGCAACTTACTATTTCAAGGACCAATCTGCTGCAGAAATAGGGGACAAGTCTTGGCTCTACCTTAGAACCCTGAAA
CAAGAGGAGGAGACACATATACGAAATGAGCAGGTACGGCAAAGAGCAAAAGAATGTTCCCAAGCTCTCAGTCTGATTCTTGACATTGATCATGGAAAGCCAGTG
AAGAATGCATTAGATTTAAAGTTTGATATGGAACAACTGAAGGACTCTATTGATAGGGAAAAAATAGCAGTAATTGGACATTCTTTTGGTGGAGCAACGGTTATT
CAGACTCTTAGTGAAGATCAGAGATTCAGATGTGGTATTGCCCTGGATGCATGGATGTTTCCACTGGGTGATGAAGTATATTCCAGAATTCCTCAGCCCCTCTTT
TTTATCAACTCTGAATATTTCCAATATCCTGCTAATATCATAAAAATGAAAAAATGCTACTCACCTGATAAAGAAAGAAAGATGATTACAATCAGGGGTTCAGTC
CACCAGAATTTTGCTGACTTCACTTTTGCAACTGGCAAAATAATTGGACACATGCTCAAATTAAAGGGAGACATAGATTCAAATGTAGCTATTGATCTTAGCAAC
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>PLA2G7|7941|protein
MVPPKLHVLFCLCGCLAVVYPFDWQYINPVAHMKSSAWVNKIQVLMAAASFGQTKIPRGNGPYSVGCTDLMFDHTNKGTFLRLYYPSQDNDRLDTLWIPNKEYFW
GLSKFLGTHWLMGNILRLLFGSMTTPANWNSPLRPGEKYPLVVFSHGLGAFRTLYSAIGIDLASHGFIVAAVEHRDRSASATYYFKDQSAAEIGDKSWLYLRTLK
QEEETHIRNEQVRQRAKECSQALSLILDIDHGKPVKNALDLKFDMEQLKDSIDREKIAVIGHSFGGATVIQTLSEDQRFRCGIALDAWMFPLGDEVYSRIPQPLF
FINSEYFQYPANIIKMKKCYSPDKERKMITIRGSVHQNFADFTFATGKIIGHMLKLKGDIDSNVAIDLSNKASLAFLQKHLGLHKDFDQWDCLIEGDDENLIPGT
NINTTNQHIMLQNSSGIEKYN
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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 (2) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted 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.

Simple Query:


  (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