AutismKB 2.0

Evidence Details for ZNF804B


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Basic Information Top
Gene Symbol:ZNF804B ( FLJ32110 )
Gene Full Name: zinc finger protein 804B
Band: 7q21.13
Quick LinksEntrez ID:219578; OMIM: NA; Uniprot ID:Z804B_HUMAN; ENSEMBL ID: ENSG00000182348; HGNC ID: 21958
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF804B|219578|nucleotide
ATGGCTTGTTACCTGGTCATCAGTTCGAGACATCTCAGCAATGGGCACTACCGGGGCATTAAAGGAGTCTTCAGGGGACCCCTGTGCAAGAACGGATCTCCCTCT
CCGGATTTTGCAGAAAAGAAGTCCACAGCAAAGGCCCTGGAAGATGTAAAGGCAAACTTTTACTGTGAATTATGTGACAAGCAGTATCACAAACACCAGGAGTTT
GACAATCATATTAATTCTTATGACCATGCTCATAAGCAGAGACTGAAAGAATTAAAGCAACGGGAATTTGCTCGAAATGTAGCTTCTAAGTCATGGAAAGATGAG
AAAAAACAAGAAAAAGCACTTAAACGACTTCATCAGCTGGCTGAGTTAAGGCAGCAATCTGAATGTGTTTCTGGAAATGGACCAGCATACAAAGCCCCCAGGGTA
GCCATAGAAAAGCAACTCCAGCAAGGAATTTTCCCCATTAAGAATGGCAGAAAGGTATCATGCATGAAGAGTGCTCTTCTCCTTAAAGGAAAAAATCTCCCCAGA
ATCATATCCGATAAACAGCGGTCCACCATGCCAAATCGACACCAATTACAATCAGACAGGCGTTGTTTGTTTGGAAATCAGGTACTGCAAACATCTTCAGATCTC
AGCAATGCAAATCACAGAACAGGAGTATCATTTACTTTTTCCAAAAAAGTGCACCTAAAATTAGAATCTTCAGCATCAGTTTTCAGTGAGAACACAGAAGAAACC
CATGATTGTAACAAGTCACCCATTTATAAAACAAAACAAACTGCAGATAAGTGCAAGTGCTGCAGGTTTGCAAATAAAGATACACACCTTACCAAGGAAAAAGAG
GTAAATATCTCACCAAGCCATCTGGAAAGTGTTTTACACAATACCATCTCCATAAACTCTAAAATTTTGCAAGACAAACACGACTCTATTGATGAGACACTAGAA
GATTCAATTGGCATTCATGCTTCATTCTCTAAATCTAACATTCATCTTTCAGATGTAGATTTTACTCCTACCAGCAGAGAAAAAGAAACTAGAAATACATTGAAG
AACACTTTAGAAAATTGTGTTAATCACCCATGCCAAGCAAATGCTTCCTTCAGCCCACCAAACATTTACAACCATAGTGATGCCAGGATATCTGAATGCCTGGAT
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>ZNF804B|219578|protein
MACYLVISSRHLSNGHYRGIKGVFRGPLCKNGSPSPDFAEKKSTAKALEDVKANFYCELCDKQYHKHQEFDNHINSYDHAHKQRLKELKQREFARNVASKSWKDE
KKQEKALKRLHQLAELRQQSECVSGNGPAYKAPRVAIEKQLQQGIFPIKNGRKVSCMKSALLLKGKNLPRIISDKQRSTMPNRHQLQSDRRCLFGNQVLQTSSDL
SNANHRTGVSFTFSKKVHLKLESSASVFSENTEETHDCNKSPIYKTKQTADKCKCCRFANKDTHLTKEKEVNISPSHLESVLHNTISINSKILQDKHDSIDETLE
DSIGIHASFSKSNIHLSDVDFTPTSREKETRNTLKNTLENCVNHPCQANASFSPPNIYNHSDARISECLDEFSSLEPSEQKSTVHLNPNSRIENREKSLDKTERV
SKNVQRLVKEACTHNVASKPLPFLHVQSKDGHTTLQWPTELLLFTKTEPCISYGCNPLYFDFKLSRNTKEDHNLEDLKTELGKKPLELKTKRESQVSGLTEDQQK
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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 (4) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (5)
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
Yu, 2002 USA STS mappingPDD 105 - 105 - - 668 668
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
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
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