AutismKB 2.0

Evidence Details for ZNF750


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Basic Information Top
Gene Symbol:ZNF750 ( FLJ13841,FLJ51362,MGC125667,MGC125668,ZFP750 )
Gene Full Name: zinc finger protein 750
Band: 17q25.3
Quick LinksEntrez ID:79755; OMIM: 610226; Uniprot ID:ZN750_HUMAN; ENSEMBL ID: ENSG00000141579; HGNC ID: 25843
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF750|79755|nucleotide
ATGAGTCTCCTCAAAGAGCGGAAGCCAAAAAAGCCACATTACATCCCCAGGCCTCCAGGAAAGCCCTTCAAGTATAAATGTTTCCAATGTCCCTTTACTTGCAAT
GAGAAGTCACATCTTTTTAATCACATGAAGTATGGTCTTTGTAAAAACTCGATTACTTTAGTATCAGAGCAGGATCGAGTTCCCAAGTGCCCTAAATCTAACTCA
CTAGACCCCAAGCAAACCAACCAGCCCGATGCCACGGCGAAGCCAGCCTCTTCCAAGTCTGTCGCAAATGGACTCTCTGCCTTCGACTCGAAGCTTCAGCACAGC
TCTGCCAGGGAAGACATCAAGGAAAACCTGGAGCTGCAAGCCCGGGGAACCCACAGGTGCCTGGGACAGAAGCCAGCCCTCCACAGGGCATCACCCTGCAAGAGC
CCAGCTCCGGAAGCCGCCCTCGGTGCCCAGCCTGCTCTGGAAGGCGCAGCTCGGCCTTCTGCATTTGTTCCAGTCGGCGAGCACAGACTCAAGGGGCCAGACAAC
GCCGAGGCGCCCGAGACACTGGCTTTACACAACCCCACTGCCAAGGCCGTGTCTTTCCACACCAAGTCGGCCTTCCACACTCCTGGCTACCCCTGGAAAGCCGGC
TCACCTTTCCTTCCACCAGAGTTTCCACATAAAATCTCATCTACAAAGGGGCTTGGGGCCATTTCCCCTTACATGCACCCCACAATCCCAGAGTACCCGCCTCAC
TTTTACACAGAGCACGGGCTGGCCACCATCTACTCGCCTTACCTGCTGGCTGGGAGCTCGCCTGAGTGTGACGCACCCCTGCTGTCAGTCTACGGAACCCAAGAC
CCGAGACACTTCCTGCCTCACCCGGGGCCGATCCCTAAGCACCTGGCTCCATCTCCAGCCACATACGATCACTACAGGTTTTTCCAGCAATATCCCTCTAACCTG
CCGATTCCTTACGGATTTTACAGGCCAGAGTCTGCATTTTCCTCCTATGGTCTCAGACTCCCACCTGTCACTGGCCTCACCCGAGATCAGAGCTCTCACCTGCTT
GAAGAAGCCACCCTGGTCTATCCAGCCTCGAGTCCTTCCAGGTTAAACCCTTCGGACCCCAACAGAAAACACGTCGAGTTCGAAAGTCCAATTCCTGAGGCTAAA
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>ZNF750|79755|protein
MSLLKERKPKKPHYIPRPPGKPFKYKCFQCPFTCNEKSHLFNHMKYGLCKNSITLVSEQDRVPKCPKSNSLDPKQTNQPDATAKPASSKSVANGLSAFDSKLQHS
SAREDIKENLELQARGTHRCLGQKPALHRASPCKSPAPEAALGAQPALEGAARPSAFVPVGEHRLKGPDNAEAPETLALHNPTAKAVSFHTKSAFHTPGYPWKAG
SPFLPPEFPHKISSTKGLGAISPYMHPTIPEYPPHFYTEHGLATIYSPYLLAGSSPECDAPLLSVYGTQDPRHFLPHPGPIPKHLAPSPATYDHYRFFQQYPSNL
PIPYGFYRPESAFSSYGLRLPPVTGLTRDQSSHLLEEATLVYPASSPSRLNPSDPNRKHVEFESPIPEAKDSSKAGQRDTEGSKMSPRAGSAATGSPGRPSPTDF
MQTSQTCEGLYDLSNKAASSALGRLYPPEQSLTAFRPVKKSTECLPAQAAETTAESPVSLNVVNGDPPAPTGSASLVSEAAPSSPDDSSGMGPLNLSKKSEINLA
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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 (1) 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
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
Auranen, 2002 Finland microsatellite-based genomic screenautism 19 - 19 - 54 - -
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
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