AutismKB 2.0

Evidence Details for PCP4


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Basic Information Top
Gene Symbol:PCP4 ( PEP-19 )
Gene Full Name: Purkinje cell protein 4
Band: 21q22.2
Quick LinksEntrez ID:5121; OMIM: 601629; Uniprot ID:PCP4_HUMAN; ENSEMBL ID: ENSG00000183036; HGNC ID: 8742
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PCP4|5121|nucleotide
ATGAGTGAGCGACAAGGTGCTGGGGCAACCAATGGAAAAGACAAGACATCTGGTGAAAATGATGGACAGAAGAAAGTTCAAGAAGAATTTGACATTGACATGGAT
GCACCAGAGACAGAACGTGCAGCGGTGGCCATTCAGTCTCAGTTCAGAAAATTCCAGAAGAAGAAGGCTGGGTCTCAGTCCTAG









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>PCP4|5121|protein
MSERQGAGATNGKDKTSGENDGQKKVQEEFDIDMDAPETERAAVAIQSQFRKFQKKKAGSQS




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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
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
Linkage Studies Top