AutismKB 2.0

Evidence Details for ZNF578


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Basic Information Top
Gene Symbol:ZNF578 ( FLJ31384 )
Gene Full Name: zinc finger protein 578
Band: 19q13.41
Quick LinksEntrez ID:147660; OMIM: NA; Uniprot ID:ZN578_HUMAN; ENSEMBL ID: ENSG00000258405; HGNC ID: 26449
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF578|147660|nucleotide
ATGTTACATGAGGAAGCAGCTCAGAAGAGGAAAGGAAAGGAGCCAGGCATGGCTCTTCCTCAGGGACGCTTGACTTTCAGGGATGTGGCTATAGAATTCTCATTG
GCAGAGTGGAAATTCCTGAACCCTGCGCAGAGGGCTTTGTACAGGGAAGTGATGTTGGAGAACTACAGGAACCTGGAGGCTGTGGATATCTCTTCCAAACGCATG
ATGAAGGAGGTCTTGTCAACAGGGCAAGGCAATACAGAAGTGATCCACACAGGGATGTTGCAAAGACATGAAAGTTATCACACTGGAGATTTTTGCTTCCAGGAA
ATTGAAAAAGATATTCATGACTTTGAGTTTCAGTCACAAAAAGATGAAAGAAATGGCCATGAAGCATCCATGCCAAAAATCAAAGAGTTGATGGGTAGCACAGAC
CGACATGATCAAAGGCATGCTGGAAACAAGCCTATTAAAGATCAGCTTGGATTAAGCTTTCATTTGCATCTTCCTGAACTCCACATATTTCAGCCCGAAGAGAAA
ATTGCTAATCAAGTGGAGAAGTCTGTCAACGATGCTTCCTCAATTTCAACATCCCAAAGAATTTCTTGTAGGCCTGAAACACATACTCCTAATAACTATGGGAAT
AATTTTTTCCATTCATCATTACTCACACAAAAACAGGAAGTACACATGAGAGAAAAATCTTTCCAATGTAATGAGACTGGCGAAGCCTTTAATTGTAGCTCATTT
GTAAGGAAACATCAGATAATCCATTTAGGAGAAAAACAATATAAATTTGATATATGTGGCAAAGTCTTTAATGAGAAGCGATACCTTGCACGCCATCGTAGATGT
CACACTAGTGAGAAACCTTACAAGTGTAATGAATGTGGAAAGTCCTTCAGTTACAAGTCATCCCTGACATGCCATCGTAGATGTCACACTGGTGAGAAACCTTAC
AAGTGTAATGAATGTGGAAAGTCCTTCAGTTACAAGTCATCCCTTACATGCCATCATAGGTGTCACACTGGTGAGAAACCTTACAAGTGTAATGAATGTGGAAAG
TCCTTCAGTTACAAGTCATCCCTTAGATGCCATCGTAGACTTCATACTGGAATAAAACCTTACAAGTGTAATGAGTGTGGCAAGATGTTTGGTCAAAATTCAACC
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>ZNF578|147660|protein
MLHEEAAQKRKGKEPGMALPQGRLTFRDVAIEFSLAEWKFLNPAQRALYREVMLENYRNLEAVDISSKRMMKEVLSTGQGNTEVIHTGMLQRHESYHTGDFCFQE
IEKDIHDFEFQSQKDERNGHEASMPKIKELMGSTDRHDQRHAGNKPIKDQLGLSFHLHLPELHIFQPEEKIANQVEKSVNDASSISTSQRISCRPETHTPNNYGN
NFFHSSLLTQKQEVHMREKSFQCNETGEAFNCSSFVRKHQIIHLGEKQYKFDICGKVFNEKRYLARHRRCHTSEKPYKCNECGKSFSYKSSLTCHRRCHTGEKPY
KCNECGKSFSYKSSLTCHHRCHTGEKPYKCNECGKSFSYKSSLRCHRRLHTGIKPYKCNECGKMFGQNSTLVIHKAIHTGEKPYKCNECGKAFNQQSHLSRHHRL
HTGEKPYKCNDCGKAFIHQSSLARHHRLHTGEKSYKCEECDRVFSQKSNLERHKIIHTGEKPYKCNECHKTFSHRSSLPCHRRLHSGEKPYKCNECGKTFNVQSH
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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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Spence, 2006 USA microsatellite-based genomic screenASD 133 - 133 - 280 - -
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
Chen R, 2017 107 116 128 Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut
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