AutismKB 2.0

Evidence Details for ZNF804A


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Basic Information Top
Gene Symbol:ZNF804A ( C2orf10 )
Gene Full Name: zinc finger protein 804A
Band: 2q32.1
Quick LinksEntrez ID:91752; OMIM: 612282; Uniprot ID:Z804A_HUMAN; ENSEMBL ID: ENSG00000170396; HGNC ID: 21711
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF804A|91752|nucleotide
ATGGAGTGTTACTACATTGTCATCAGCTCCACGCATCTCAGCAACGGACACTTTCGCAACATCAAGGGAGTTTTCCGGGGCCCTCTCAGCAAGAACGGGAACAAA
ACTCTGGACTATGCTGAGAAGGAAAATACCATAGCAAAAGCTCTGGAAGATCTGAAGGCAAATTTTTACTGTGAACTCTGTGACAAGCAGTACTATAAGCACCAG
GAGTTTGACAATCACATTAATTCATATGACCATGCTCACAAGCAGAGGCTCAAGGAACTGAAACAAAGGGAATTTGCTCGAAATGTAGCATCTAAATCCAGGAAA
GATGAAAGAAAACAGGAAAAGGCACTCCAACGCCTGCACAAGCTGGCTGAGCTAAGAAAGGAAACTGTATGTGCTCCTGGAAGTGGCCCCATGTTCAAATCAACA
ACTGTTACTGTGAGAGAAAACTGTAATGAAATTTCCCAACGAGTTGTTGTGGATTCAGTTAATAACCAGCAAGATTTCAAATATACTTTGATTCATAGTGAAGAG
AATACTAAAGATGCTACCACTGTTGCTGAAGATCCAGAAAGTGCAAATAATTATACAGCAAAAAATAACCAAGTTGGGGATCAAGCCCAGGGGATTCACAGACAC
AAAATCGGCTTTTCTTTTGCATTTCCAAAGAAAGCGTCCGTGAAGCTAGAGTCCTCAGCTGCAGCCTTCTCTGAATACAGTGATGATGCCTCAGTGGGAAAAGGA
TTTAGCAGAAAAAGTAGATTTGTCCCCAGTGCTTGTCATCTTCAACAATCTTCACCAACAGATGTGCTTTTGAGTTCTGAGGAGAAAACTAACTCTTTTCATCCA
CCAGAGGCAATGTGCAGAGACAAAGAAACTGTTCAAACTCAAGAGATAAAAGAAGTCTCTAGTGAAAAAGATGCATTATTATTACCTTCATTTTGCAAGTTTCAA
CTTCAGTTATCTTCTGATGCAGATAATTGTCAAAATTCAGTCCCATTAGCAGATCAAATACCACTAGAGAGTGTTGTTATTAATGAAGACATACCTGTTAGTGGT
AACAGTTTTGAGTTGTTAGGAAATAAATCCACAGTTCTTGACATGTCTAATGATTGCATATCTGTGCAAGCTACCACAGAGGAAAATGTTAAGCATAACGAGGCA
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>ZNF804A|91752|protein
MECYYIVISSTHLSNGHFRNIKGVFRGPLSKNGNKTLDYAEKENTIAKALEDLKANFYCELCDKQYYKHQEFDNHINSYDHAHKQRLKELKQREFARNVASKSRK
DERKQEKALQRLHKLAELRKETVCAPGSGPMFKSTTVTVRENCNEISQRVVVDSVNNQQDFKYTLIHSEENTKDATTVAEDPESANNYTAKNNQVGDQAQGIHRH
KIGFSFAFPKKASVKLESSAAAFSEYSDDASVGKGFSRKSRFVPSACHLQQSSPTDVLLSSEEKTNSFHPPEAMCRDKETVQTQEIKEVSSEKDALLLPSFCKFQ
LQLSSDADNCQNSVPLADQIPLESVVINEDIPVSGNSFELLGNKSTVLDMSNDCISVQATTEENVKHNEASTTEVENKNGPETLAPSNTEEVNITIHKKTNFCKR
QCEPFVPVLNKHRSTVLQWPSEMLVYTTTKPSISYSCNPLCFDFKSTKVNNNLDKNKPDLKDLCSQQKQEDICMGPLSDYKDVSTEGLTDYEIGSSKNKCSQVTP
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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) 1 (1) 0 (1) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 24 (7)
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
Gallagher, 2003 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2001 USA microsatellite-based genomic screenautism, PDD, Asperger syndrome 35 - 35 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Fromer M, 2014 - - 94 De novo mutations in schizophrenia implicate synaptic networks.
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