AutismKB 2.0

Evidence Details for PHF5A


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Basic Information Top
Gene Symbol:PHF5A ( INI,MGC1346,Rds3,SAP14b,SF3b14b,bK223H9.2 )
Gene Full Name: PHD finger protein 5A
Band: 22q13.2
Quick LinksEntrez ID:84844; OMIM: NA; Uniprot ID:PHF5A_HUMAN; ENSEMBL ID: ENSG00000100410; HGNC ID: 18000
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PHF5A|84844|nucleotide
ATGGCTAAACATCATCCTGATTTGATCTTTTGCCGCAAGCAGGCTGGTGTTGCCATCGGAAGACTGTGTGAAAAATGTGATGGCAAGTGTGTGATTTGTGACTCC
TATGTGCGTCCCTGCACTCTGGTGCGCATATGTGATGAGTGTAACTATGGATCTTACCAGGGGCGCTGTGTGATCTGTGGAGGACCTGGGGTCTCTGATGCCTAT
TATTGTAAGGAGTGCACCATCCAGGAGAAGGACAGAGATGGCTGCCCAAAGATTGTCAATCTGGGGAGCTCTAAGACAGACCTCTTCTATGAACGCAAAAAATAC
GGCTTCAAGAAGAGGTGA







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>PHF5A|84844|protein
MAKHHPDLIFCRKQAGVAIGRLCEKCDGKCVICDSYVRPCTLVRICDECNYGSYQGRCVICGGPGVSDAYYCKECTIQEKDRDGCPKIVNLGSSKTDLFYERKKY
GFKKR



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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top