AutismKB 2.0

Evidence Details for PLCH2


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Basic Information Top
Gene Symbol:PLCH2 ( PLC-eta2,PLCL4,PLCeta2 )
Gene Full Name: phospholipase C, eta 2
Band: 1p36.32
Quick LinksEntrez ID:9651; OMIM: 612836; Uniprot ID:PLCH2_HUMAN; ENSEMBL ID: ENSG00000149527; HGNC ID: 29037
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLCH2|9651|nucleotide
ATGTCTGGTCCATGGCCCTCCCCCGACAGCCGGACCAAGGGAACGGTGGCCTGGCTGGCGGAGGTACTCCTCTGGGTTGGAGGGAGTGTGGTGCTGTCTTCAGAG
TGGCAGCTCGGCCCCCTGGTGGAGCGGTGCATGGGTGCCATGCAAGAGGGGATGCAGATGGTGAAGCTGCGTGGCGGCTCCAAGGGCCTGGTCCGCTTCTACTAC
CTGGACGAGCACCGCTCCTGCATCCGCTGGAGGCCCTCACGCAAGAACGAGAAGGCCAAGATCTCCATCGACTCCATCCAGGAGGTGAGTGAGGGGCGGCAGTCG
GAGGTCTTCCAGCGCTACCCTGACGGCAGCTTCGACCCCAACTGCTGCTTCAGCATCTACCACGGCAGCCACCGCGAGTCGCTGGACCTGGTCTCCACCAGCAGC
GAGGTGGCGCGCACCTGGGTCACTGGCCTGCGCTACCTCATGGCCGGCATCAGCGACGAGGACAGCCTGGCTCGCCGCCAGCGCACCAGGGACCAGTGGCTGAAG
CAGACGTTTGACGAGGCCGACAAGAACGGGGATGGCAGCCTGAGCATTGGCGAGGTCCTGCAGCTGCTGCACAAGCTCAACGTGAACCTGCCCCGGCAGAGGGTG
AAGCAGATGTTCAGGGAAGCGGACACGGATGACCACCAAGGGACGCTGGGTTTTGAAGAGTTCTGTGCCTTCTACAAGATGATGTCCACCCGCCGGGACCTCTAC
CTGCTCATGCTGACCTACAGCAACCACAAGGACCACCTGGATGCCGCCAGCCTGCAGCGCTTCCTGCAGGTGGAGCAGAAGATGGCGGGTGTGACCCTCGAGAGC
TGCCAGGACATCATCGAGCAGTTTGAGCCATGCCCAGAAAACAAGAGTAAGGGGCTGCTGGGCATTGATGGCTTCACCAACTACACCAGGAGCCCTGCTGGTGAC
ATCTTCAACCCTGAGCACCACCATGTGCACCAGGACATGACGCAGCCGCTGAGCCACTACTTCATCACCTCGTCCCACAACACCTACCTCGTGGGTGACCAGCTC
ATGTCCCAGTCACGGGTGGACATGTATGCTTGGGTCCTGCAGGCTGGCTGCCGCTGCGTGGAGGTGGACTGCTGGGATGGGCCCGACGGGGAGCCCATTGTGCAC
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>PLCH2|9651|protein
MSGPWPSPDSRTKGTVAWLAEVLLWVGGSVVLSSEWQLGPLVERCMGAMQEGMQMVKLRGGSKGLVRFYYLDEHRSCIRWRPSRKNEKAKISIDSIQEVSEGRQS
EVFQRYPDGSFDPNCCFSIYHGSHRESLDLVSTSSEVARTWVTGLRYLMAGISDEDSLARRQRTRDQWLKQTFDEADKNGDGSLSIGEVLQLLHKLNVNLPRQRV
KQMFREADTDDHQGTLGFEEFCAFYKMMSTRRDLYLLMLTYSNHKDHLDAASLQRFLQVEQKMAGVTLESCQDIIEQFEPCPENKSKGLLGIDGFTNYTRSPAGD
IFNPEHHHVHQDMTQPLSHYFITSSHNTYLVGDQLMSQSRVDMYAWVLQAGCRCVEVDCWDGPDGEPIVHHGYTLTSKILFKDVIETINKYAFIKNEYPVILSIE
NHCSVIQQKKMAQYLTDILGDKLDLSSVSSEDATTLPSPQMLKGKILVKGKKLPANISEDAEEGEVSDEDSADEIDDDCKLLNGDASTNRKRVENTAKRKLDSLI
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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 (4) 0 (0) 0 (0) 0 (0) 0 (1) 0 (2) 0 (0) 0 (0) 0 (7)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top