AutismKB 2.0

Evidence Details for ZNF323


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ZNF323 ( FLJ23407,ZNF20-Lp,ZNF310P,dJ874C20.2 )
Gene Full Name: zinc finger protein 323
Band: 6p21.31|6p22.3-p22.1
Quick LinksEntrez ID:64288; OMIM: 610794; Uniprot ID:ZN323_HUMAN; ENSEMBL ID: ENSG00000235109; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF323|64288|nucleotide
ATGGCTTCAACAGAGGAACAGTACGATCTTAAGATTGTGAAAGTGGAGGAAGACCCTATCTGGGACCAAGAAACCCACCTTCGAGGGAACAACTTTTCTGGCCAA
GAAGCCTCCCGACAACTTTTTAGGCAGTTTTGTTACCAAGAGACTCCTGGTCCCCGAGAAGCTCTGAGCCGGCTCCGAGAACTCTGTCATCAGTGGCTAAGGCCA
GAAATCCACACCAAAGAGCAAATCTTGGAGCTGCTGGTGCTGGAGCAATTCCTGACTATCCTGCCTGAGGAGCTCCAGGCCTGGGTGCGGGAGCACCATCCGGAG
AGTGGGGAGGAGGCTGTGGCTGTAGTTGAAGATCTGGAACAAGAGCTTAGTGAGCCAGGGAACCAGGCTCCAGACCATGAACATGGACATTCTGAAGTGCTCTTG
GAGGATGTGGAACATCTGAAGGTCAAGCAGGAACCAACAGACATACAGCTTCAGCCTATGGTGACACAGCTCAGATATGAATCTTTTTGCCTCCACCAATTTCAA
GAACAAGATGGTGAAAGTATACCTGAGAACCAGGAGTTGGCATCAAAGCAAGAAATCTTAAAAGAAATGGAACATTTGGGGGATAGCAAACTCCAAAGAGATGTA
TCTTTGGATTCTAAGTACAGAGAAACTTGTAAACGAGACAGCAAGGCAGAAAAGCAGCAGGCACATTCCACTGGAGAGAGACGCCACAGGTGCAATGAATGTGGG
AAAAGCTTCACTAAGAGTTCAGTACTCATTGAGCACCAGAGAATCCACACTGGGGAGAAGCCATATGAATGTGAAGAATGTGGGAAGGCCTTCAGCCGGAGGTCA
AGCCTGAATGAACATCGGCGGAGCCACACTGGAGAGAAACCCTATCAATGTAAGGAGTGTGGGAAAGCCTTCAGTGCCAGCAATGGCCTCACTCGACACAGAAGA
ATCCACACAGGGGAAAAACCATATGAATGCAAAGTGTGTGGGAAGGCTTTCCTCCTCAGCTCATGCCTTGTTCAGCATCAGAGGATACACACTGGAGAGAAGCGC
TATCAGTGTCGTGAGTGTGGCAAAGCCTTCATTCAGAATGCAGGGCTTTTCCAGCATCTCCGAGTCCACACTGGTGAGAAACCCTATCAGTGCAGTCAGTGCAGT
Show »

>ZNF323|64288|protein
MASTEEQYDLKIVKVEEDPIWDQETHLRGNNFSGQEASRQLFRQFCYQETPGPREALSRLRELCHQWLRPEIHTKEQILELLVLEQFLTILPEELQAWVREHHPE
SGEEAVAVVEDLEQELSEPGNQAPDHEHGHSEVLLEDVEHLKVKQEPTDIQLQPMVTQLRYESFCLHQFQEQDGESIPENQELASKQEILKEMEHLGDSKLQRDV
SLDSKYRETCKRDSKAEKQQAHSTGERRHRCNECGKSFTKSSVLIEHQRIHTGEKPYECEECGKAFSRRSSLNEHRRSHTGEKPYQCKECGKAFSASNGLTRHRR
IHTGEKPYECKVCGKAFLLSSCLVQHQRIHTGEKRYQCRECGKAFIQNAGLFQHLRVHTGEKPYQCSQCSKLFSKRTLLKKHQKIHTGERP

Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Guerini, 2010 Italy microsatellite-based genomic screen, SNP-based genomic screenASD 61 61 - - 61 149 210
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
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (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