Human Gene Module / Chromosome 8 / ZNF517

ZNF517Zinc finger protein 517

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
4 / 5
Rare Variants / Common Variants
7 / 0
Aliases
-
Associated Syndromes
-
Chromosome Band
8q24.3
Associated Disorders
-
Relevance to Autism

A novel recurrent deletion involving an exonic region of the ZNF517 gene was identified in two unrelated ASD cases in Prasad et al., 2012; however, no comparison with controls was reported, and segregation of the CNV with ASD was incomplete in one of two families.

Molecular Function

May be involved in transcriptional regulation.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to ZNF517 (5 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary A discovery resource of rare copy number variations in individuals with autism spectrum disorder Prasad A , et al. (2013) Yes -
2 Support Large-scale discovery of novel genetic causes of developmental disorders Deciphering Developmental Disorders Study (2014) No -
3 Support Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks Ruzzo EK , et al. (2019) Yes -
4 Support - N.Y.) (07/2) Yes -
5 Support - Zhou X et al. (2022) Yes -
Rare Variants   (7)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.898C>T p.Arg300Cys missense_variant De novo - - 35901164 N.Y.) (07/2)
- - copy_number_loss Familial Paternal Simplex 23275889 Prasad A , et al. (2013)
- - copy_number_loss Familial Maternal Multiplex 23275889 Prasad A , et al. (2013)
c.1438del p.Glu480ArgfsTer34 frameshift_variant De novo - - 35982159 Zhou X et al. (2022)
c.1287C>T p.Cys429%3D synonymous_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.543C>G p.Tyr181Ter stop_gained De novo - Unknown 25533962 Deciphering Developmental Disorders Study (2014)
c.1158del p.Lys387SerfsTer46 frameshift_variant Familial Paternal Multiplex 31398340 Ruzzo EK , et al. (2019)
Common Variants  

No common variants reported.

SFARI Gene score
2

Strong Candidate

A novel recurrent deletion involving an exonic region of the ZNF517 gene was identified in two unrelated ASD cases in Prasad et al., 2012; however, no comparison with controls was reported, and segregation of the CNV with ASD was incomplete in one of two families (i.e. not all affected siblings were positive for the deletion).

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
3
icon
2

Decreased from 3 to 2

Description

A novel recurrent deletion involving an exonic region of the ZNF517 gene was identified in two unrelated ASD cases in Prasad et al., 2012; however, no comparison with controls was reported, and segregation of the CNV with ASD was incomplete in one of two families (i.e. not all affected siblings were positive for the deletion).

10/1/2019
4
icon
3

Decreased from 4 to 3

New Scoring Scheme
Description

A novel recurrent deletion involving an exonic region of the ZNF517 gene was identified in two unrelated ASD cases in Prasad et al., 2012; however, no comparison with controls was reported, and segregation of the CNV with ASD was incomplete in one of two families (i.e. not all affected siblings were positive for the deletion).

Reports Added
[New Scoring Scheme]
7/1/2019
4
icon
4

Decreased from 4 to 4

Description

A novel recurrent deletion involving an exonic region of the ZNF517 gene was identified in two unrelated ASD cases in Prasad et al., 2012; however, no comparison with controls was reported, and segregation of the CNV with ASD was incomplete in one of two families (i.e. not all affected siblings were positive for the deletion).

Reports Added
[Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.2019]
10/1/2017
icon
4

Increased from to 4

Description

A novel recurrent deletion involving an exonic region of the ZNF517 gene was identified in two unrelated ASD cases in Prasad et al., 2012; however, no comparison with controls was reported, and segregation of the CNV with ASD was incomplete in one of two families (i.e. not all affected siblings were positive for the deletion).

Krishnan Probability Score

Score 0.48955694347092

Ranking 6438/25841 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 2.0097191930834E-5

Ranking 13884/18225 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 0.93586774260221

Ranking 13013/18665 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
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