AutismKB 2.0

Evidence Details for ZNF471


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Basic Information Top
Gene Symbol:ZNF471 ( ERP1,KIAA1396,MGC150657,MGC150658,Z1971 )
Gene Full Name: zinc finger protein 471
Band: 19q13.43
Quick LinksEntrez ID:57573; OMIM: NA; Uniprot ID:ZN471_HUMAN; ENSEMBL ID: ENSG00000196263; HGNC ID: 23226
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF471|57573|nucleotide
ATGAATGTTGAAGTAGTAAAAGTCATGCCCCAGGACTTAGTGACATTCAAGGATGTGGCAATAGATTTTTCCCAGGAAGAATGGCAATGGATGAACCCTGCTCAG
AAGCGTTTATACAGGAGTATGATGTTGGAGAACTATCAGAGCCTGGTATCACTTGGTCTTTGCATTTCTAAGCCATATGTGATCTCCTTATTGGAGCAAGGGAGA
GAGCCTTGGGAGATGACGAGTGAGATGACAAGAAGCCCATTCTCAGATTGGGAATCTATATATGTGACACAGGAATTACCTCTGAAGCAGTTCATGTATGATGAT
GCATGCATGGAGGGAATTACTAGCTATGGACTTGAGTGTTCCACTTTTGAAGAAAATTGGAAATGGGAAGACCTTTTTGAGAAGCAGATGGGAAGTCATGAGATG
TTTAGCAAGAAAGAAATAATCACTCATAAAGAAACCATCACTAAGGAAACAGAATTCAAATATACTAAATTTGGGAAATGTATCCATCTGGAAAACATAGAAGAG
AGTATTTATAATCACACATCAGATAAAAAAAGCTTCTCCAAAAATTCTATGGTAATAAAACACAAGAAAGTCTATGTAGGAAAGAAGCTTTTTAAATGTAATGAA
TGTGACAAAACCTTCACCCATAGCTCATCCCTTACTGTTCATTTTAGAATTCATACTGGTGAAAAACCATATGCATGTGAGGAATGTGGAAAAGCCTTCAAGCAA
AGGCAACACCTTGCTCAACATCACAGAACACATACTGGAGAGAAACTCTTTGAATGTAAAGAATGTAGGAAAGCCTTCAAACAAAGTGAACACCTTATTCAGCAT
CAAAGAATTCATACTGGAGAAAAACCATATAAATGTAAGGAATGCAGAAAAGCCTTCAGACAGCCTGCACACCTTGCTCAGCATCAGAGAATTCATACTGGAGAG
AAACCCTATGAATGTAAAGAATGTGGCAAAGCCTTCAGTGATGGCTCGTCTTTTGCTCGACATCAGAGATGTCACACTGGCAAAAGACCCTATGAATGTATTGAG
TGTGGGAAGGCTTTTAGGTATAACACATCTTTTATTCGTCACTGGAGGAGTTATCATACTGGAGAGAAGCCTTTTAATTGCATTGATTGTGGGAAAGCCTTCAGT
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>ZNF471|57573|protein
MNVEVVKVMPQDLVTFKDVAIDFSQEEWQWMNPAQKRLYRSMMLENYQSLVSLGLCISKPYVISLLEQGREPWEMTSEMTRSPFSDWESIYVTQELPLKQFMYDD
ACMEGITSYGLECSTFEENWKWEDLFEKQMGSHEMFSKKEIITHKETITKETEFKYTKFGKCIHLENIEESIYNHTSDKKSFSKNSMVIKHKKVYVGKKLFKCNE
CDKTFTHSSSLTVHFRIHTGEKPYACEECGKAFKQRQHLAQHHRTHTGEKLFECKECRKAFKQSEHLIQHQRIHTGEKPYKCKECRKAFRQPAHLAQHQRIHTGE
KPYECKECGKAFSDGSSFARHQRCHTGKRPYECIECGKAFRYNTSFIRHWRSYHTGEKPFNCIDCGKAFSVHIGLILHRRIHTGEKPYKCGVCGKTFSSGSSRTV
HQRIHTGEKPYECDICGKDFSHHASLTQHQRVHSGEKPYECKECGKAFRQNVHLVSHLRIHTGEKPYECKECGKAFRISSQLATHQRIHTGEKPYECIECGNAFK
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Krupp DR, 2017 - 2264 247 Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
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