AutismKB 2.0

Evidence Details for ZNF638


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Basic Information Top
Gene Symbol:ZNF638 ( DKFZp686P1231,MGC26130,MGC90196,NP220,ZFML,Zfp638 )
Gene Full Name: zinc finger protein 638
Band: 2p13.3-p13.2
Quick LinksEntrez ID:27332; OMIM: NA; Uniprot ID:ZN638_HUMAN; ENSEMBL ID: ENSG00000075292; HGNC ID: 17894
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNF638|27332|nucleotide
ATGTCGAGACCCAGGTTTAATCCTCGAGGAGACTTTCCACTTCAAAGGCCACGAGCACCTAACCCTTCTGGGATGAGGCCTCCAGGACCATTTATGAGGCCTGGA
TCTATGGGTCTCCCAAGATTTTACCCAGCAGGGAGAGCACGTGGAATTCCACACAGATTTGCTGGCCATGAATCTTATCAGAACATGGGGCCACAGAGAATGAAT
GTTCAGGTAACTCAACACAGAACTGATCCAAGATTGACCAAAGAAAAACTGGATTTTCATGAAGCACAACAGAAGAAGGGGAAGCCTCATGGTAGCCGGTGGGAT
GATGAGCCTCATATATCTGCATCAGTGGCAGTGAAACAGAGTTCTGTAACACAGGTTACAGAGCAGAGTCCCAAAGTACAGAGCCGCTATACAAAAGAGAGTGCC
TCAAGTATCTTAGCAAGTTTTGGATTATCTAATGAAGACCTAGAAGAACTTAGTCGCTATCCTGATGAACAACTAACTCCTGAAAATATGCCATTAATTTTGAGG
GATATAAGAATGCGAAAAATGGGGCGCCGATTACCTAATTTACCTTCTCAGAGCAGAAATAAAGAAACACTTGGTAGTGAAGCAGTTTCAAGTAATGTGATCGAT
TATGGGCATGCAAGCAAATATGGCTACACAGAAGATCCACTTGAAGTACGTATTTATGATCCTGAAATTCCAACTGATGAGGTCGAGAATGAATTTCAGTCACAG
CAGAACATTTCTGCATCTGTTCCCAATCCAAATGTGATATGTAATTCTATGTTTCCTGTTGAAGACGTATTTCGCCAAATGGACTTCCCCGGTGAGTCCTCCAAT
AATCGGTCCTTTTTCTCAGTTGAGAGTGGAACCAAGATGTCAGGCTTACACATTTCAGGAGGACAGTCAGTCCTTGAACCCATAAAATCCGTCAACCAATCCATT
AACCAAACAGTTAGCCAGACAATGAGTCAATCTCTGATTCCTCCATCTATGAACCAGCAACCTTTTTCGTCGGAATTAATTTCATCTGTAAGCCAGCAAGAGCGG
ATCCCACATGAACCTGTGATTAATTCATCTAACGTACATGTTGGATCAAGAGGAAGTAAAAAGAATTACCAGTCACAGGCTGACATTCCCATTCGGTCTCCCTTT
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>ZNF638|27332|protein
MSRPRFNPRGDFPLQRPRAPNPSGMRPPGPFMRPGSMGLPRFYPAGRARGIPHRFAGHESYQNMGPQRMNVQVTQHRTDPRLTKEKLDFHEAQQKKGKPHGSRWD
DEPHISASVAVKQSSVTQVTEQSPKVQSRYTKESASSILASFGLSNEDLEELSRYPDEQLTPENMPLILRDIRMRKMGRRLPNLPSQSRNKETLGSEAVSSNVID
YGHASKYGYTEDPLEVRIYDPEIPTDEVENEFQSQQNISASVPNPNVICNSMFPVEDVFRQMDFPGESSNNRSFFSVESGTKMSGLHISGGQSVLEPIKSVNQSI
NQTVSQTMSQSLIPPSMNQQPFSSELISSVSQQERIPHEPVINSSNVHVGSRGSKKNYQSQADIPIRSPFGIVKASWLPKFSHADAQKMKRLPTPSMMNDYYAAS
PRIFPHLCSLCNVECSHLKDWIQHQNTSTHIESCRQLRQQYPDWNPEILPSRRNEGNRKENETPRRRSHSPSPRRSRRSSSSHRFRRSRSPMHYMYRPRSRSPRI
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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 (3) 0 (0) 0 (0) 0 (0) 0 (3)
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
Reference Case Number Family Number de novo Number Title
Neale BM, 2012 175 175 173 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Fromer M, 2014 - - 94 De novo mutations in schizophrenia implicate synaptic networks.
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