AutismKB 2.0

Evidence Details for PLCG1


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Basic Information Top
Gene Symbol:PLCG1 ( NCKAP3,PLC-II,PLC1,PLC148,PLCgamma1 )
Gene Full Name: phospholipase C, gamma 1
Band: 20q12
Quick LinksEntrez ID:5335; OMIM: 172420; Uniprot ID:PLCG1_HUMAN; ENSEMBL ID: ENSG00000124181; HGNC ID: 9065
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLCG1|5335|nucleotide
ATGGCGGGCGCCGCGTCCCCTTGCGCCAACGGCTGCGGGCCCGGCGCGCCCTCGGACGCCGAGGTGCTGCACCTCTGCCGCAGCCTCGAGGTGGGCACCGTCATG
ACTTTGTTCTACTCCAAGAAGTCGCAGCGACCCGAGCGGAAGACCTTCCAGGTCAAGCTGGAGACGCGCCAGATCACGTGGAGCCGGGGCGCCGACAAGATCGAG
GGGGCCATTGACATTCGTGAAATTAAGGAGATCCGCCCAGGGAAGACCTCACGGGACTTTGATCGCTATCAAGAGGACCCAGCTTTCCGGCCGGACCAGTCACAT
TGCTTTGTCATTCTCTATGGAATGGAATTTCGCCTGAAAACGCTGAGCCTGCAAGCCACATCTGAGGATGAAGTGAACATGTGGATCAAGGGCTTAACTTGGCTG
ATGGAGGATACATTGCAGGCACCCACACCCCTGCAGATTGAGAGGTGGCTCCGGAAGCAGTTTTACTCAGTGGATCGGAATCGTGAGGATCGTATATCAGCCAAG
GACCTGAAGAACATGCTGTCCCAGGTCAACTACCGGGTCCCCAACATGCGCTTCCTCCGAGAGCGGCTGACGGACCTGGAGCAGCGCAGCGGGGACATCACCTAC
GGGCAGTTTGCTCAGCTGTACCGCAGCCTCATGTACAGCGCCCAGAAGACGATGGACCTCCCCTTCTTGGAAGCCAGTACTCTGAGGGCTGGGGAGCGGCCGGAG
CTTTGCCGAGTGTCCCTTCCTGAGTTCCAGCAGTTCCTTCTTGACTACCAGGGGGAGCTGTGGGCTGTTGATCGCCTCCAGGTGCAGGAGTTCATGCTCAGCTTC
CTCCGAGACCCCTTACGAGAGATCGAGGAGCCATACTTCTTCCTGGATGAGTTTGTCACCTTCCTGTTCTCCAAAGAGAACAGTGTGTGGAACTCGCAGCTGGAT
GCAGTATGCCCGGACACCATGAACAACCCTCTTTCCCACTACTGGATCTCCTCCTCGCACAACACGTACCTGACCGGGGACCAGTTCTCCAGTGAGTCCTCCTTG
GAAGCCTATGCTCGCTGCCTGCGGATGGGCTGTCGCTGCATTGAGTTGGACTGCTGGGACGGCCCGGATGGGATGCCAGTTATTTACCATGGGCACACCCTTACC
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>PLCG1|5335|protein
MAGAASPCANGCGPGAPSDAEVLHLCRSLEVGTVMTLFYSKKSQRPERKTFQVKLETRQITWSRGADKIEGAIDIREIKEIRPGKTSRDFDRYQEDPAFRPDQSH
CFVILYGMEFRLKTLSLQATSEDEVNMWIKGLTWLMEDTLQAPTPLQIERWLRKQFYSVDRNREDRISAKDLKNMLSQVNYRVPNMRFLRERLTDLEQRSGDITY
GQFAQLYRSLMYSAQKTMDLPFLEASTLRAGERPELCRVSLPEFQQFLLDYQGELWAVDRLQVQEFMLSFLRDPLREIEEPYFFLDEFVTFLFSKENSVWNSQLD
AVCPDTMNNPLSHYWISSSHNTYLTGDQFSSESSLEAYARCLRMGCRCIELDCWDGPDGMPVIYHGHTLTTKIKFSDVLHTIKEHAFVASEYPVILSIEDHCSIA
QQRNMAQYFKKVLGDTLLTKPVEISADGLPSPNQLKRKILIKHKKLAEGSAYEEVPTSMMYSENDISNSIKNGILYLEDPVNHEWYPHYFVLTSSKIYYSEETSS
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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 (0) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top