AutismKB 2.0

Evidence Details for ZNF467


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Basic Information Top
Gene Symbol:ZNF467 ( EZI,Zfp467 )
Gene Full Name: zinc finger protein 467
Band: 7q36.1
Quick LinksEntrez ID:168544; OMIM: NA; Uniprot ID:ZN467_HUMAN; ENSEMBL ID: ENSG00000181444; HGNC ID: 23154
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF467|168544|nucleotide
ATGAGAGAGACCTTGGAGGCCCTCAGCTCCCTGGGATTCTCTGTGGGACAGCCAGAGATGGCCCCCCAAAGTGAGCCCAGGGAAGGATCCCATAATGCCCAGGAG
CAGATGTCCTCTTCTAGGGAAGAGAGAGCACTGGGGGTGTGCTCAGGGCACGAGGCCCCTACACCGGAGGAAGGTGCCCACACAGAACAAGCCGAGGCTCCCTGC
AGAGGCCAGGCGTGCTCAGCACAGAAGGCTCAGCCTGTGGGTACCTGCCCAGGAGAGGAGTGGATGATTCGGAAGGTGAAGGTGGAGGACGAAGATCAGGAGGCA
GAAGAGGAGGTCGAATGGCCCCAGCATCTATCGTTACTTCCCAGCCCCTTTCCCGCGCCTGACCTGGGGCATCTGGCTGCCGCGTACAAACTGGAGCCAGGGGCC
CCGGGGGCACTGAGTGGGCTCGCGCTGTCTGGGTGGGGTCCGATGCCGGAGAAGCCCTACGGCTGCGGGGAGTGTGAGCGGCGCTTCCGGGACCAGCTGACGTTG
CGACTGCACCAGCGGCTGCACCGGGGCGAGGGCCCCTGCGCCTGCCCGGACTGCGGCCGCAGCTTCACGCAGCGCGCCCACATGCTACTGCATCAGCGCAGCCAC
CGCGGCGAGCGGCCTTTCCCGTGCTCCGAGTGCGACAAGCGCTTCAGCAAGAAGGCCCATCTGACCCGCCACCTGCGCACGCACACGGGCGAGCGGCCCTACCCG
TGCGCGGAGTGCGGCAAGCGCTTCAGCCAGAAGATCCACCTGGGCTCGCACCAAAAGACCCACACCGGCGAGCGGCCCTTCCCCTGCACGGAATGCGAGAAGCGC
TTTCGCAAGAAGACGCACTTGATTCGGCACCAGCGCATCCATACGGGCGAGAGGCCCTACCAGTGCGCACAGTGCGCACGCAGCTTCACGCACAAGCAGCACTTG
GTGCGGCACCAAAGGGTGCACCAGACGGCCGGCCCGGCCAGGCCCTCTCCCGACTCGTCCGCTTCTCCTCATTCCACTGCCCCGTCCCCGACCCCATCCTTTCCC
GGGCCAAAGCCTTTCGCGTGCTCCGACTGCGGCTTGAGCTTCGGCTGGAAAAAGAACCTCGCCACGCACCAGTGTCTGCACCGCAGCGAGGGTCGCCCCTTTGGG
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>ZNF467|168544|protein
MRETLEALSSLGFSVGQPEMAPQSEPREGSHNAQEQMSSSREERALGVCSGHEAPTPEEGAHTEQAEAPCRGQACSAQKAQPVGTCPGEEWMIRKVKVEDEDQEA
EEEVEWPQHLSLLPSPFPAPDLGHLAAAYKLEPGAPGALSGLALSGWGPMPEKPYGCGECERRFRDQLTLRLHQRLHRGEGPCACPDCGRSFTQRAHMLLHQRSH
RGERPFPCSECDKRFSKKAHLTRHLRTHTGERPYPCAECGKRFSQKIHLGSHQKTHTGERPFPCTECEKRFRKKTHLIRHQRIHTGERPYQCAQCARSFTHKQHL
VRHQRVHQTAGPARPSPDSSASPHSTAPSPTPSFPGPKPFACSDCGLSFGWKKNLATHQCLHRSEGRPFGCDECALGATVDAPAAKPLASAPGGPGCGPGSDPVV
PQRAPSGERSFFCPDCGRGFSHGQHLARHPRVHTGERPFACTQCDRRFGSRPNLVAHSRAHSGARPFACAQCGRRFSRKSHLGRHQAVHTGSRPHACAVCARSFS
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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 (2) 0 (0) 0 (0) 0 (0) 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
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
Liu, 2001 USA microsatellite-based genomic screenautism, ASD 110 - 110 - - - -
Molloy, 2005 USA microsatellite-based genomic screenASD 34 - 34 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
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