AutismKB 2.0

Evidence Details for ZNF813


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Basic Information Top
Gene Symbol:ZNF813 ( FLJ16542,FLJ34141 )
Gene Full Name: zinc finger protein 813
Band: 19q13.42
Quick LinksEntrez ID:126017; OMIM: NA; Uniprot ID:ZN813_HUMAN; ENSEMBL ID: ENSG00000198346; HGNC ID: 33257
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF813|126017|nucleotide
ATGGCTCTTCCTCAGGGTCTATTGACATTCAGGGATGTGGCCATAGAATTCTCTCAGGAGGAGTGGAAATGCCTGGACCCTGCTCAGAGGACTCTATACAGGGAC
GTGATGCTGGAGAATTATAGGAACCTGGTCTCCCTGGATATCTCTTCCAAATGCATGATGAAGGAGTTCTCATCAACAGCACAAGGCAATAGAGAAGTGATCCAC
ACAGGGACATTGCAAAGACATGAAAGTCATCACACTGGAGACTTTCGCTTTCAGGAAATTGATAAAGATATTCATAACTTAGAGTTTCAGTGGCAAGAAGATGAA
AGAAATAGCCATGAAGCACCCATGACAGAAATCAAAAAGTTGACTGGTAGTGCAGACCGATATGATCAAAGGCATGCTGGAAACAAGCCTATTAAAGATCAGCTT
GGATCAAGCTTTCATTCGCATCTGCCTGAACTCCACATGTTTCAGACCCAAGGGAAAATTGGTAATCAAGTGGAGAAGTCTATCAACGATGCTTCCTCAATTTCA
ACATCCCAAAGAATTTCTTGTAGGCCCAAAACCCATATTTCTAATAACTATGGGAATAATTTCCGGAATTCTTCGTTACTCACACAAAAACAGGAGGTACACATG
AGAGAAAAGTCTTTCCAATGTAATGAGAGTGGCAAAGCCTTTAATTATAGCTCACTCTTAAGGAAACATCAAATAATCCATTTAGGAGAGAAACAATATAAATGT
GATGTATGTGGCAAGGTCTTTAATCGGAAGCGAAACCTAGTGTGCCATCGTAGATGTCACACTGGGGAGAAACCTTACAGGTGTAATGAGTGTGGCAAGACTTTC
AGTCAGACGTATTCCCTTACATGCCATCGTAGACTTCATACTGGAGAGAAACCTTACAAATGTGAAGAATGTGACAAAGCTTTCAGTTTCAAATCAAACCTTAAA
AGACATAGGAGAATTCATGCTGGAGAAAAACCATACAAGTGTAATGAATGTGGCAAGACCTTTAGTCAGACGTCATCCCTTACATGCCATCGTAGACTTCATACT
GGAGAGAAACCTTTCAAGTGTAATGAGTGTGGCAAGACCTTTAGTCGGAAGTCATCCCTTACATGCCATCATAGACTTCATACGGGAGAGAAACCTTATAAGTGT
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>ZNF813|126017|protein
MALPQGLLTFRDVAIEFSQEEWKCLDPAQRTLYRDVMLENYRNLVSLDISSKCMMKEFSSTAQGNREVIHTGTLQRHESHHTGDFRFQEIDKDIHNLEFQWQEDE
RNSHEAPMTEIKKLTGSADRYDQRHAGNKPIKDQLGSSFHSHLPELHMFQTQGKIGNQVEKSINDASSISTSQRISCRPKTHISNNYGNNFRNSSLLTQKQEVHM
REKSFQCNESGKAFNYSSLLRKHQIIHLGEKQYKCDVCGKVFNRKRNLVCHRRCHTGEKPYRCNECGKTFSQTYSLTCHRRLHTGEKPYKCEECDKAFSFKSNLK
RHRRIHAGEKPYKCNECGKTFSQTSSLTCHRRLHTGEKPFKCNECGKTFSRKSSLTCHHRLHTGEKPYKCNECGKTFSQELTLKCHRRLHTGEKPYKCNECGKVF
NKKANLARHHRLHSGEKPYKCTECVKTFSRNSALVIHKAIHIGEKRYKCNECGKTFSRISALVIHTAIHTGEKPYKCNECGKGFNRKTHLACHHRLHTGEKPYKC
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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 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (4)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Spence, 2006 USA microsatellite-based genomic screenASD 133 - 133 - 280 - -
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
Neale BM, 2012 175 175 173 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (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