AutismKB 2.0

Evidence Details for ZDHHC2


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Basic Information Top
Gene Symbol:ZDHHC2 ( DHHC2,ZNF372 )
Gene Full Name: zinc finger, DHHC-type containing 2
Band: 8p22
Quick LinksEntrez ID:51201; OMIM: NA; Uniprot ID:ZDHC2_HUMAN; ENSEMBL ID: ENSG00000104219; HGNC ID: 18469
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZDHHC2|51201|nucleotide
ATGGCGCCCTCGGGCCCGGGCAGCAGCGCCAGGCGGCGGTGCCGGCGGGTGCTGTACTGGATCCCGGTGGTGTTCATCACCCTCCTGCTCGGCTGGTCCTACTAC
GCCTACGCCATCCAGCTGTGCATAGTGTCCATGGAAAACACTGGCGAACAAGTTGTGTGCCTGATGGCCTATCATCTACTTTTTGCAATGTTTGTCTGGTCATAC
TGGAAAACTATCTTTACATTACCAATGAATCCTTCAAAAGAATTCCATCTCTCTTATGCAGAGAAAGATTTGTTGGAGAGAGAGCCAAGAGGAGAAGCCCATCAG
GAAGTTCTTAGGCGAGCAGCCAAGGATCTTCCCATCTATACCAGGACCATGTCTGGAGCCATCCGATACTGTGACAGATGCCAACTTATAAAACCAGATCGCTGC
CATCACTGCTCCGTCTGTGATAAATGTATTTTGAAGATGGATCATCATTGTCCATGGGTGAACAATTGTGTTGGATTTTCAAATTATAAGTTCTTTCTCCTTTTC
TTGGCTTATTCTCTGCTCTACTGCCTTTTTATTGCGGCAACAGATTTACAGTATTTTATCAAATTTTGGACAAATGGCCTACCTGATACTCAAGCCAAGTTCCAT
ATTATGTTTTTATTCTTTGCTGCAGCTATGTTTTCTGTCAGCTTGTCTTCTCTGTTTGGCTATCATTGTTGGCTAGTCAGCAAAAATAAATCTACATTAGAGGCA
TTCAGAAGTCCAGTATTTCGACATGGAACAGATAAGAATGGATTCAGCTTGGGTTTCAGTAAAAACATGCGACAAGTTTTTGGTGATGAGAAGAAGTACTGGTTG
CTACCCATTTTTTCAAGTCTAGGTGATGGCTGCTCCTTTCCAACTTGCCTTGTTAACCAGGATCCTGAACAAGCATCTACTCCTGCAGGGCTGAATTCCACAGCT
AAAAATCTCGAAAACCATCAGTTTCCTGCAAAGCCATTGAGAGAGTCCCAGAGCCACCTTCTTACTGATTCTCAGTCTTGGACGGAGAGCAGCATAAACCCAGGA
AAATGCAAAGCTGGTATGAGCAATCCTGCATTAACCATGGAAAATGAGACTTAA
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>ZDHHC2|51201|protein
MAPSGPGSSARRRCRRVLYWIPVVFITLLLGWSYYAYAIQLCIVSMENTGEQVVCLMAYHLLFAMFVWSYWKTIFTLPMNPSKEFHLSYAEKDLLEREPRGEAHQ
EVLRRAAKDLPIYTRTMSGAIRYCDRCQLIKPDRCHHCSVCDKCILKMDHHCPWVNNCVGFSNYKFFLLFLAYSLLYCLFIAATDLQYFIKFWTNGLPDTQAKFH
IMFLFFAAAMFSVSLSSLFGYHCWLVSKNKSTLEAFRSPVFRHGTDKNGFSLGFSKNMRQVFGDEKKYWLLPIFSSLGDGCSFPTCLVNQDPEQASTPAGLNSTA
KNLENHQFPAKPLRESQSHLLTDSQSWTESSINPGKCKAGMSNPALTMENET

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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) 1 (3) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 14 (5)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
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