AutismKB 2.0

Evidence Details for ZNF75A


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Basic Information Top
Gene Symbol:ZNF75A ( FLJ31529 )
Gene Full Name: zinc finger protein 75a
Band: 16p13.3
Quick LinksEntrez ID:7627; OMIM: 601473; Uniprot ID:ZN75A_HUMAN; ENSEMBL ID: ENSG00000162086; HGNC ID: 13146
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF75A|7627|nucleotide
ATGTATTTTTCCCAGGAAGAATGGGAGTTATTGGATCCCACTCAGAAGGCCCTCTACAATGATGTAATGCAGGAAAACTATGAGACTGTCATCTCTCTAGCATTG
TTTGTGCTCCCCAAACCTAAAGTGATCTCCTGTCTAGAGCAAGGGGAAGAGCCATGGGTTCAAGTATCCCCGGAGTTTAAGGATAGTGCCGGAAAATCTCCTACA
GGGTTAAAGCTCAAAAACGACACTGAAAATCATCAGCCTGTGTCTCTTTCTGACTTAGAAATACAAGCATCAGCAGGCGTCATATCAAAAAAGGCCAAAGTAAAA
GTTCCCCAGAAAACAGCAGGCAAAGAAAATCATTTTGATATGCACAGAGTGGGAAAATGGCACCAAGATTTTCCAGTGAAGAAAAGAAAGAAACTTTCAACCTGG
AAACAAGAGCTGCTCAAACTTATGGATCGTCACAAGAAAGATTGTGCAAGAGAGAAGCCTTTTAAATGTCAGGAATGTGGGAAAACCTTCAGAGTTAGCTCTGAC
CTTATTAAGCACCAAAGAATTCACACTGAAGAGAAACCCTATAAATGTCAACAGTGTGATAAGAGGTTTAGATGGAGTTCAGATCTTAATAAGCACTTAACAACA
CACCAAGGAATAAAACCATATAAATGTTCATGGTGTGGGAAAAGCTTCAGTCAAAATACAAATTTACATACACACCAAAGAACTCATACAGGAGAAAAGCCCTTC
ACATGTCATGAATGTGGAAAAAAATTCAGTCAGAACTCCCACCTTATTAAACACCGGAGAACCCACACAGGTGAGCAGCCATATACTTGTAGCATATGCAGGAGA
AACTTCAGCAGGCGGTCAAGCCTTCTTAGACACCAGAAACTCCACCTGTGA


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>ZNF75A|7627|protein
MYFSQEEWELLDPTQKALYNDVMQENYETVISLALFVLPKPKVISCLEQGEEPWVQVSPEFKDSAGKSPTGLKLKNDTENHQPVSLSDLEIQASAGVISKKAKVK
VPQKTAGKENHFDMHRVGKWHQDFPVKKRKKLSTWKQELLKLMDRHKKDCAREKPFKCQECGKTFRVSSDLIKHQRIHTEEKPYKCQQCDKRFRWSSDLNKHLTT
HQGIKPYKCSWCGKSFSQNTNLHTHQRTHTGEKPFTCHECGKKFSQNSHLIKHRRTHTGEQPYTCSICRRNFSRRSSLLRHQKLHL


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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) 1 (2) 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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
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