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