Human Gene Module / Chromosome X / ZNF711

ZNF711zinc finger protein 711

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
1 / 5
Rare Variants / Common Variants
10 / 0
EAGLE Score
4.25
Limited Learn More
Aliases
-
Associated Syndromes
-
Chromosome Band
Xq21.1
Associated Disorders
-
Genetic Category
Rare Single Gene Mutation
Relevance to Autism

van der Werf et al., 2017 presented two large four-generation families with a total of 11 males affected with intellectual disability caused by mutations in the ZNF711 gene; patients with ZNF711 mutations presented with mild-to-moderate intellectual disability and poor speech accompanied by additional features in some patients, such as autistic features and mild facial dysmorphic features. Wang et al., 2022 described the clinical findings of 20 new cases with ZNF711 variants; in combination with the 11 patients originally described in van der Werf et al., 2017, the authors found that affected males with ZNF711 mutations presented with typically mild intellectual disability, and coexisting autism or autistic behavior occurred in half of the cases.

Molecular Function

Transcription regulator required for brain development. Probably acts as a transcription factor that binds to the promoter of target genes and recruits PHF8 histone demethylase, leading to activate expression of genes involved in neuron development, such as KDM5C.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to ZNF711 (5 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Support A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation Tarpey PS et al. (2009) No -
2 Primary - van der Werf IM et al. (2017) No Autistic features
3 Recent Recommendation - Wang J et al. (2022) No ASD or autistic features
4 Support - Brea-Fernández AJ et al. (2022) No -
5 Support - Zhou X et al. (2022) Yes -
Rare Variants   (10)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.1439A>G p.Glu480Gly missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.2161C>T p.Pro721Ser stop_gained Unknown - Simplex 34992252 Wang J et al. (2022)
c.2116T>C p.Phe706Leu missense_variant De novo - Simplex 34992252 Wang J et al. (2022)
c.1555G>T p.Glu519Ter stop_gained Familial Maternal Simplex 34992252 Wang J et al. (2022)
c.1543C>T p.Arg515Ter stop_gained Familial Maternal Multi-generational 34992252 Wang J et al. (2022)
c.2227C>T p.Arg743Ter stop_gained Familial Maternal Multi-generational 34992252 Wang J et al. (2022)
c.2081A>G p.Gln694Arg missense_variant Familial Maternal - 35322241 Brea-Fernández AJ et al. (2022)
c.731T>C p.Ile244Thr missense_variant Familial Maternal Multi-generational 27993705 van der Werf IM et al. (2017)
c.2127_2128del p.Ser709ArgfsTer9 frameshift_variant Familial Maternal Multi-generational 34992252 Wang J et al. (2022)
c.2054del p.Asp685ValfsTer38 frameshift_variant Familial Maternal Multi-generational 27993705 van der Werf IM et al. (2017)
Common Variants  

No common variants reported.

SFARI Gene score
2

Strong Candidate

Score Delta: Score remained at 2

criteria met
See SFARI Gene'scoring criteria
2

Strong Candidate

See all Category 2 Genes

We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.

4/1/2022
icon
2

Increased from to 2

Krishnan Probability Score

Score 0.49955427879237

Ranking 2151/25841 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: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
Original Source
ExAC Score

Score 0.98939356350558

Ranking 1825/18225 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 exac.broadinstitute.org. 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: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle aned_exac_nonTCGA_z_pli_rec_null_data.txt
Original Source
Sanders TADA Score

Score 0.93393574398219

Ranking 12417/18665 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 www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Original Source
Zhang D Score

Score 0.1379883136269

Ranking 5393/20870 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.
Original Source
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