AutismKB 2.0

Evidence Details for YAF2


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Basic Information Top
Gene Symbol:YAF2 ( DKFZp779H1820,MGC41856 )
Gene Full Name: YY1 associated factor 2
Band: 12q12
Quick LinksEntrez ID:10138; OMIM: 607534; Uniprot ID:YAF2_HUMAN; ENSEMBL ID: ENSG00000015153; HGNC ID: 17363
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>YAF2|10138|nucleotide
ATGGGAGACAAGAAGAGCCCCACCAGGAAACCTCGACCTGTCTCCCAGTTGGTTGCACAGCAGGTTACTCAGCAGTTTGTGCCTCCTACACAGTCAAAGAAAGAG
AAAAAAGATAAAGTAGAAAAAGAAAAAAGTGAAAAGGAAACAACTAGCAAAAAGAATAGCCATAAGAAAACCAGGCCAAGATTGAAAAATGTGGATCGGAGTAGT
GCTCAGCATTTGGAAGTTACTGTTGGAGATCTGACAGTCATTATTACAGACTTTAAGGAGAAAACAAAGTCACCGCCTGCATCTAGTGCTGCTTCTGCAGATCAA
CACAGTCAAAGCGGCTCTAGCTCTGATAACACAGAGAGAGGAATGTCCAGGTCATCTTCACCCAGAGGAGAAGCCTCATCATTGAATGGAGAATCTCATTAA







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>YAF2|10138|protein
MGDKKSPTRKPRPVSQLVAQQVTQQFVPPTQSKKEKKDKVEKEKSEKETTSKKNSHKKTRPRLKNVDRSSAQHLEVTVGDLTVIITDFKEKTKSPPASSAASADQ
HSQSGSSSDNTERGMSRSSSPRGEASSLNGESH



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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top