AutismKB 2.0

Evidence Details for PLA2G6


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Basic Information Top
Gene Symbol:PLA2G6 ( CaI-PLA2,GVI,INAD1,IPLA2-VIA,NBIA2A,NBIA2B,PARK14,PLA2,PNPLA9,iPLA2 )
Gene Full Name: phospholipase A2, group VI (cytosolic, calcium-independent)
Band: 22q13.1
Quick LinksEntrez ID:8398; OMIM: 603604; Uniprot ID:PA2G6_HUMAN; ENSEMBL ID: ENSG00000184381; HGNC ID: 9039
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLA2G6|8398|nucleotide
ATGCAGTTCTTTGGCCGCCTGGTCAATACCTTCAGTGGCGTCACCAACTTGTTCTCTAACCCATTCCGGGTGAAGGAGGTGGCTGTGGCCGACTACACCTCGAGT
GACCGAGTTCGGGAGGAAGGGCAGCTGATTCTGTTCCAGAACACTCCCAACCGCACCTGGGACTGCGTCCTGGTCAACCCCAGGAACTCACAGAGTGGATTCCGA
CTCTTCCAGCTGGAGTTGGAGGCTGACGCCCTAGTGAATTTCCATCAGTATTCTTCCCAGCTGCTACCCTTCTATGAGAGCTCCCCTCAGGTCCTGCACACTGAG
GTCCTGCAGCACCTGACCGACCTCATCCGTAACCACCCCAGCTGGTCAGTGGCCCACCTGGCTGTGGAGCTAGGGATCCGCGAGTGCTTCCATCACAGCCGTATC
ATCAGCTGTGCCAATTGCGCGGAGAACGAGGAGGGCTGCACACCCCTGCACCTGGCCTGCCGCAAGGGTGATGGGGAGATCCTGGTGGAGCTGGTGCAGTACTGC
CACACTCAGATGGATGTCACCGACTACAAGGGAGAGACCGTCTTCCATTATGCTGTCCAGGGTGACAATTCTCAGGTGCTGCAGCTCCTTGGAAGGAACGCAGTG
GCTGGCCTGAACCAGGTGAATAACCAAGGGCTGACCCCGCTGCACCTGGCCTGCCAGCTGGGGAAGCAGGAGATGGTCCGCGTGCTGCTGCTGTGCAATGCTCGG
TGCAACATCATGGGCCCCAACGGCTACCCCATCCACTCGGCCATGAAGTTCTCTCAGAAGGGGTGTGCGGAGATGATCATCAGCATGGACAGCAGCCAGATCCAC
AGCAAAGACCCCCGTTACGGAGCCAGCCCCCTCCACTGGGCCAAGAACGCAGAGATGGCCCGCATGCTGCTGAAACGGGGCTGCAACGTGAACAGCACCAGCTCC
GCGGGGAACACGGCCCTGCACGTGGCGGTGATGCGCAACCGCTTCGACTGTGCCATAGTGCTGCTGACCCACGGGGCCAACGCGGATGCCCGCGGAGAGCACGGC
AACACCCCGCTGCACCTGGCCATGTCGAAAGACAACGTGGAGATGATCAAGGCCCTCATCGTGTTCGGAGCAGAAGTGGACACCCCGAATGACTTTGGGGAGACT
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>PLA2G6|8398|protein
MQFFGRLVNTFSGVTNLFSNPFRVKEVAVADYTSSDRVREEGQLILFQNTPNRTWDCVLVNPRNSQSGFRLFQLELEADALVNFHQYSSQLLPFYESSPQVLHTE
VLQHLTDLIRNHPSWSVAHLAVELGIRECFHHSRIISCANCAENEEGCTPLHLACRKGDGEILVELVQYCHTQMDVTDYKGETVFHYAVQGDNSQVLQLLGRNAV
AGLNQVNNQGLTPLHLACQLGKQEMVRVLLLCNARCNIMGPNGYPIHSAMKFSQKGCAEMIISMDSSQIHSKDPRYGASPLHWAKNAEMARMLLKRGCNVNSTSS
AGNTALHVAVMRNRFDCAIVLLTHGANADARGEHGNTPLHLAMSKDNVEMIKALIVFGAEVDTPNDFGETPTFLASKIGRQLQDLMHISRARKPAFILGSMRDEK
RTHDHLLCLDGGGVKGLIIIQLLIAIEKASGVATKDLFDWVAGTSTGGILALAILHSKSMAYMRGMYFRMKDEVFRGSRPYESGPLEEFLKREFGEHTKMTDVRK
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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 (1) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)		ASD -
-		 -
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top