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

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Hashimoto R, 2016 30 - 38 Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018