Evidence Details for PLA2G7
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 Links | Entrez 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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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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MVPPKLHVLFCLCGCLAVVYPFDWQYINPVAHMKSSAWVNKIQVLMAAASFGQTKIPRGNGPYSVGCTDLMFDHTNKGTFLRLYYPSQDNDRLDTLWIPNKEYFW
GLSKFLGTHWLMGNILRLLFGSMTTPANWNSPLRPGEKYPLVVFSHGLGAFRTLYSAIGIDLASHGFIVAAVEHRDRSASATYYFKDQSAAEIGDKSWLYLRTLK
QEEETHIRNEQVRQRAKECSQALSLILDIDHGKPVKNALDLKFDMEQLKDSIDREKIAVIGHSFGGATVIQTLSEDQRFRCGIALDAWMFPLGDEVYSRIPQPLF
FINSEYFQYPANIIKMKKCYSPDKERKMITIRGSVHQNFADFTFATGKIIGHMLKLKGDIDSNVAIDLSNKASLAFLQKHLGLHKDFDQWDCLIEGDDENLIPGT
NINTTNQHIMLQNSSGIEKYN
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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) | 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 microarray | autism | - | - | - | - | 105 | 267 | 372 | ||
Berkel, 2010 | Canada | SNP microarray | ASD | - | - | - | - | 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
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