Human Gene Module / Chromosome 2 / ZNF385B

ZNF385BZinc finger protein 385B

Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
2 / 2
Rare Variants / Common Variants
0 / 6
ZNF385B, ZNF533
Associated Syndromes
Genetic Category
Genetic Association
Chromosome Band
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.

Reports related to ZNF385B (2 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 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 ... Maestrini E , et al. (2009) Yes -
2 Positive Association Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population. Liang S , et al. (2014) Yes -
Rare Variants  

No rare variants reported.

Common Variants   (6)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
c.25+359G>A;c.253+24149G>A Risk allele, G intron_variant - - - 19401682 Maestrini E , et al. (2009)
c.25+19019A>G;c.253+42809A>G Risk allele, A intron_variant - - - 19401682 Maestrini E , et al. (2009)
c.25+42367G>A;c.253+66157G>A Risk allele, C intron_variant - - - 19401682 Maestrini E , et al. (2009)
c.25+60997C>T;c.253+84787C>T Risk allele, T intron_variant - - - 19401682 Maestrini E , et al. (2009)
c.25+19019A>G;c.253+42809A>G - intron_variant - - - 24599690 Liang S , et al. (2014)
c.25+42367G>A;c.253+66157G>A T/C intron_variant - - - 24599690 Liang S , et al. (2014)
SFARI Gene score

Suggestive Evidence

Association between the ZNF385B gene and ASD has been observed in two studies (Maestrini et al., 2010; Liang et al., 2014).

Score Delta: Score remained at 4


Suggestive Evidence

See all Category 3 Genes

The literature is replete with relatively small studies of candidate genes, using either common or rare variant approaches, which do not reach the criteria set out for categories 1 and 2. Genes that had two such lines of supporting evidence were placed in category 3, and those with one line of evidence were placed in category 4. Some additional lines of "accessory evidence" (indicated as "acc" in the score cards) could also boost a gene from category 4 to 3.


Decreased from 4 to 3

New Scoring Scheme

Association between the ZNF385B gene and ASD has been observed in two studies (Maestrini et al., 2010; Liang et al., 2014).

Reports Added
[New Scoring Scheme]

Increased from to 4.3



Krishnan Probability Score

Score 0.49580813566608

Ranking 2795/25841 scored genes

[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at
ExAC Score

Score 0.0010653026367816

Ranking 11744/18225 scored genes

[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: aned_exac_nonTCGA_z_pli_rec_null_data.txt
Sanders TADA Score

Score 0.86268460357472

Ranking 3963/18665 scored genes

[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see
Larsen Cumulative Evidence Score

Score 8

Ranking 238/461 scored genes

[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size, and variant frequency in the general population. The approach was first presented in Mol Autism 7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from that paper.
Zhang D Score

Score 0.48033044368805

Ranking 657/20870 scored genes

[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.