AutismKB 2.0

Evidence Details for PRKCG


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Basic Information Top
Gene Symbol:PRKCG ( MGC57564,PKC-gamma,PKCC,PKCG,SCA14 )
Gene Full Name: protein kinase C, gamma
Band: 19q13.42
Quick LinksEntrez ID:5582; OMIM: 176980; Uniprot ID:KPCG_HUMAN; ENSEMBL ID: ENSG00000126583; HGNC ID: 9402
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRKCG|5582|nucleotide
ATGGCTGGTCTGGGCCCCGGCGTAGGCGATTCAGAGGGGGGACCCCGGCCCCTGTTTTGCAGAAAGGGGGCCCTGAGGCAGAAGGTGGTCCACGAAGTCAAGAGC
CACAAGTTCACCGCTCGCTTCTTCAAGCAGCCCACCTTCTGCAGCCACTGCACCGACTTCATCTGGGGTATCGGAAAGCAGGGCCTGCAATGTCAAGTCTGCAGC
TTTGTGGTTCATCGACGATGCCACGAATTTGTGACCTTCGAGTGTCCAGGCGCTGGGAAGGGCCCCCAGACGGACGACCCCCGGAACAAACACAAGTTCCGCCTG
CATAGCTACAGCAGCCCCACCTTCTGCGACCACTGTGGCTCCCTCCTCTACGGGCTTGTGCACCAGGGCATGAAATGCTCCTGCTGCGAGATGAACGTGCACCGG
CGCTGTGTGCGTAGCGTGCCCTCCCTGTGCGGTGTGGACCACACCGAGCGCCGCGGGCGCCTGCAGCTGGAGATCCGGGCTCCCACAGCAGATGAGATCCACGTA
ACTGTTGGCGAGGCCCGTAACCTAATTCCTATGGACCCCAATGGTCTCTCTGATCCCTATGTGAAACTGAAGCTCATCCCAGACCCTCGGAACCTGACGAAACAG
AAGACCCGAACGGTGAAAGCCACGCTAAACCCTGTGTGGAATGAGACCTTTGTGTTCAACCTGAAGCCAGGGGATGTGGAGCGCCGGCTCAGCGTGGAGGTGTGG
GACTGGGACCGGACCTCCCGCAACGACTTCATGGGGGCCATGTCCTTTGGCGTCTCGGAGCTGCTCAAGGCGCCCGTGGATGGCTGGTACAAGTTACTGAACCAG
GAGGAGGGCGAGTATTACAATGTGCCGGTGGCCGATGCTGACAACTGCAGCCTCCTCCAGAAGTTTGAGGCTTGTAACTACCCCCTGGAATTGTATGAGCGGGTG
CGGATGGGCCCCTCTTCCTCTCCCATCCCCTCCCCTTCCCCTAGTCCCACCGACCCCAAGCGCTGCTTCTTCGGGGCGAGTCCAGGACGCCTGCACATCTCCGAC
TTCAGCTTCCTCATGGTTCTAGGAAAAGGCAGTTTTGGGAAGGTGATGCTGGCCGAGCGCAGGGGCTCTGATGAGCTCTACGCCATCAAGATCTTGAAAAAGGAC
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>PRKCG|5582|protein
MAGLGPGVGDSEGGPRPLFCRKGALRQKVVHEVKSHKFTARFFKQPTFCSHCTDFIWGIGKQGLQCQVCSFVVHRRCHEFVTFECPGAGKGPQTDDPRNKHKFRL
HSYSSPTFCDHCGSLLYGLVHQGMKCSCCEMNVHRRCVRSVPSLCGVDHTERRGRLQLEIRAPTADEIHVTVGEARNLIPMDPNGLSDPYVKLKLIPDPRNLTKQ
KTRTVKATLNPVWNETFVFNLKPGDVERRLSVEVWDWDRTSRNDFMGAMSFGVSELLKAPVDGWYKLLNQEEGEYYNVPVADADNCSLLQKFEACNYPLELYERV
RMGPSSSPIPSPSPSPTDPKRCFFGASPGRLHISDFSFLMVLGKGSFGKVMLAERRGSDELYAIKILKKDVIVQDDDVDCTLVEKRVLALGGRGPGGRPHFLTQL
HSTFQTPDRLYFVMEYVTGGDLMYHIQQLGKFKEPHAAFYAAEIAIGLFFLHNQGIIYRDLKLDNVMLDAEGHIKITDFGMCKENVFPGTTTRTFCGTPDYIAPE
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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 (1) 1 (2) 0 (0) 1 (1) 0 (1) 0 (1) 0 (0) 0 (0) 5 (6)
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
Linkage Studies Top