AutismKB 2.0

Evidence Details for PCDHB4


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Basic Information Top
Gene Symbol:PCDHB4 ( PCDH-BETA4 )
Gene Full Name: protocadherin beta 4
Band: 5q31.3
Quick LinksEntrez ID:56131; OMIM: 606330; Uniprot ID:PCDB4_HUMAN; ENSEMBL ID: ENSG00000081818; HGNC ID: 8689
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PCDHB4|56131|nucleotide
ATGAAGAAGCTAGGGAGAATTCATCCAAACAGGCAAGTGTTGGCCTTTATTTTGATGGTGTTCTTGTCTCAGGTTCGCCTCGAGCCTATTCGTTATTCTGTGTTG
GAGGAAACAGAGAGCGGCTCCTTTGTAGCCCATCTGGCCAAGGATCTGGGCCTGGGAATTGGGGAACTGGCCTCCCGGTCAGCCCGGGTGCTGTCTGACGATGAC
AAGCAGCGTTTGCAGCTGGATCGTCAGACTGGAGATTTGCTTCTGAGGGAGAAACTAGACCGGGAAGAGCTCTGTGGTCCTATTGAACCGTGTGTACTGCATTTC
CAAGTGTTCCTGGAAATGCCGGTGCAATTTTTTCAAGGAGAATTATTGATCCAGGACATAAATGATCACTCTCCAATATTCCCTGAAAGGGAAGTGCTCTTGAAA
ATACTAGAAAATAGCCAGCCGGGTACTCTATTTCCGTTGCTAATAGCTGAGGATTTGGATGTGGGCAGCAATGGTCTTCAAAAATACACAATCAGCCCCAATTCT
CATTTTCACATTCTCACTCGAAATCATAGTGAGGGCAAGAAATACCCAGATTTGGTGCAGGACAAACCACTGGATCGAGAGGAGCAGCCTGAGTTCAGCTTAACC
CTCGTGGCGCTGGATGGTGGGTCACCACCTAGGTCTGGCACGGTCATGGTTCGAATCCTGATCATGGACATCAATGACAATGCTCCTGAGTTTGTGCACACTCCA
TATGGGGTGCAGGTCCTGGAAAACAGCCCCCTAGACTCTCCAATTGTTAGGGTCTTAGCTAGAGATATAGATGCTGGAAACTTCGGGAGTGTTTCTTATGGCTTA
TTCCAAGCATCAGATGAAATTAAACAAACTTTCTCAATAAATGAAGTCACGGGAGAAATACTGTTGAAAAAAAAATTGGATTTCGAAAAAATTAAATCTTACCAT
GTAGAAATTGAGGCCACAGATGGAGGAGGCCTTTCTGGAAAAGGCACTGTAGTCATAGAGGTGGTGGATGTGAATGACAATCCCCCAGAACTTATCATATCTTCA
CTCACCAGCTCCATCCCAGAAAATGCTCCTGAGACGGTAGTCTCTATCTTCCGAATTCGAGATAGAGATTCCGGAGAAAATGGAAAGATGATTTGCTCTATTCCA
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>PCDHB4|56131|protein
MKKLGRIHPNRQVLAFILMVFLSQVRLEPIRYSVLEETESGSFVAHLAKDLGLGIGELASRSARVLSDDDKQRLQLDRQTGDLLLREKLDREELCGPIEPCVLHF
QVFLEMPVQFFQGELLIQDINDHSPIFPEREVLLKILENSQPGTLFPLLIAEDLDVGSNGLQKYTISPNSHFHILTRNHSEGKKYPDLVQDKPLDREEQPEFSLT
LVALDGGSPPRSGTVMVRILIMDINDNAPEFVHTPYGVQVLENSPLDSPIVRVLARDIDAGNFGSVSYGLFQASDEIKQTFSINEVTGEILLKKKLDFEKIKSYH
VEIEATDGGGLSGKGTVVIEVVDVNDNPPELIISSLTSSIPENAPETVVSIFRIRDRDSGENGKMICSIPDNLPFILKPTLKNFYTLVTERPLDRETSAEYNITI
AVTDLGTPRLKTQQNITVQVSDVNDNAPAFTQTSYTLFVRENNSPALHIGSVSATDRDSGTNAQVTYSLLPPQDPHLPLASLVSINADNGHLFALRSLDYEALQA
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top