ZNF385B
Homo sapiens
Gene Name: Zinc finger protein 385B
Aliases: ZNF533
Chromosome No: 2
Chromosome Band: 2q31.2-q31.3
Genetic Category: Genetic association-Rare single gene variant
Aliases: ZNF533
Chromosome No: 2
Chromosome Band: 2q31.2-q31.3
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 9
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 9
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Assocation between the ZNF385B gene and ASD has been observed in two studies (Maestrini et al., 2010; Liang et al., 2014).
Molecular Function
May play a role in p53/TP53-mediated apoptosis. Diseases associated with ZNF385B include orofacial cleft. This gene resides within the AUTS5 linkage region.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism ...
ASD
Positive Association
Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN602C001
intron_variant
rs7590028
c.25+60997C>T;c.253+84787C>T
Risk allele, T
Combined sample of IMGSAC primary and replication samples (420-421 cases, 368 controls)
Discovery
GEN602C002
intron_variant
rs11885327
c.25+42367G>A;c.253+66157G>A
Risk allele, C
Discovery cohort: 126 ASD families from IMGSAC showing linkage to the AUTS5 region, 188 gender-matched controls
Discovery
GEN602C003
intron_variant
rs1964081
c.25+19019A>G;c.253+42809A>G
Risk allele, A
Discovery cohort: 126 ASD families from IMGSAC showing linkage to the AUTS5 region, 188 gender-matched controls
Discovery
GEN602C004
intron_variant
rs1139
c.25+359G>A;c.253+24149G>A
Risk allele, G
Discovery cohort: 126 ASD families from IMGSAC showing linkage to the AUTS5 region, 188 gender-matched controls
Discovery
GEN602C005
intron_variant
rs11885327
c.25+42367G>A;c.253+66157G>A
T/C
Discovery cohort: 370 ASD child-parent trios of Han Chinese descent
Replication
GEN602C006
intron_variant
rs1964081
c.25+19019A>G;c.253+42809A>G
Discovery cohort: 370 ASD child-parent trios of Han Chinese descent
Replication