AutismKB 2.0

Evidence Details for ZNHIT1


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Basic Information Top
Gene Symbol:ZNHIT1 ( CG1I,ZNFN4A1 )
Gene Full Name: zinc finger, HIT-type containing 1
Band: 7q22.1
Quick LinksEntrez ID:10467; OMIM: NA; Uniprot ID:ZNHI1_HUMAN; ENSEMBL ID: ENSG00000106400; HGNC ID: 21688
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ZNHIT1|10467|nucleotide
ATGGTGGAGAAGAAAACTTCGGTTCGCTCCCAGGACCCCGGGCAGCGGCGGGTGCTGGACCGGGCTGCCCGGCAGCGTCGCATCAACCGGCAGCTGGAGGCCCTG
GAGAATGACAACTTCCAGGATGACCCCCACGCGGGACTCCCTCAGCTCGGCAAGAGACTGCCTCAGTTTGATGACGATGCGGACACTGGAAAGAAAAAGAAGAAA
ACCCGAGGTGATCATTTTAAACTTCGCTTCCGAAAAAACTTTCAGGCCCTGTTGGAGGAGCAGAACTTGAGTGTGGCCGAGGGCCCTAACTACCTGACGGCCTGT
GCGGGACCCCCATCGCGGCCCCAGCGCCCCTTCTGTGCTGTCTGTGGCTTCCCATCCCCCTACACCTGTGTCAGCTGCGGTGCCCGGTACTGCACTGTGCGCTGT
CTGGGGACCCACCAGGAGACCAGGTGTCTGAAGTGGACTGTGTGA






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>ZNHIT1|10467|protein
MVEKKTSVRSQDPGQRRVLDRAARQRRINRQLEALENDNFQDDPHAGLPQLGKRLPQFDDDADTGKKKKKTRGDHFKLRFRKNFQALLEEQNLSVAEGPNYLTAC
AGPPSRPQRPFCAVCGFPSPYTCVSCGARYCTVRCLGTHQETRCLKWTV



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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Baron, 2006_1 America human EBV-transformed lymphoblastoid cell lines 3
(33.33%)
-autism 3
(33.33%)
1.36 Up 0.01
  • Platform: Human Genome GeneChip U95Av2 (HG-U95Av2, Affymetrix Inc., Santa Clara, CA)
  • ProbeSet: 38613_at
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: t-test using the bootstrap method, food changes
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
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