Human Gene Module / Chromosome 7 / ZNF713

ZNF713Zinc finger protein 713

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
3 / 3
Rare Variants / Common Variants
4 / 0
Aliases
-
Associated Syndromes
-
Chromosome Band
7p11.2
Associated Disorders
-
Relevance to Autism

A de novo occurrence of the 7p11.2 folate-sensitive fragile site FRA7A was identified in a male ASD patient due to a CGG-repeat expansion mutation (~450 repeats) in a 5' intron of the ZNF713 gene; in a second unrelated family, three siblings with ASD and their unaffected father were found to carry FRA7A pre-mutations (Metsu et al., 2014).

Molecular Function

May be involved in transcriptional regulation.

External Links
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Human
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SFARI Genomic Platforms
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Reports related to ZNF713 (3 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families Metsu S , et al. (2014) Yes -
2 Support Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks Ruzzo EK , et al. (2019) Yes -
3 Support - Zhou X et al. (2022) Yes -
Rare Variants   (4)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.1019G>A p.Arg340His missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.94G>T p.Glu32Ter stop_gained Familial Paternal Multiplex 31398340 Ruzzo EK , et al. (2019)
(CGG)~450 - trinucleotide_repeat_microsatellite_feature De novo - Simplex 25196122 Metsu S , et al. (2014)
(CGG)66-70 - trinucleotide_repeat_microsatellite_feature Familial Paternal Multiplex 25196122 Metsu S , et al. (2014)
Common Variants  

No common variants reported.

SFARI Gene score
2

Strong Candidate

A de novo occurrence of the 7p11.2 folate-sensitive fragile site FRA7A was identified in a male ASD patient due to a CGG-repeat expansion mutation (~450 repeats) in a 5' intron of the ZNF713 gene; in a second unrelated family, three siblings with ASD and their unaffected father were found to carry FRA7A pre-mutations (Metsu et al., 2014).

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 de novo occurrence of the 7p11.2 folate-sensitive fragile site FRA7A was identified in a male ASD patient due to a CGG-repeat expansion mutation (~450 repeats) in a 5' intron of the ZNF713 gene; in a second unrelated family, three siblings with ASD and their unaffected father were found to carry FRA7A pre-mutations (Metsu et al., 2014).

10/1/2019
4
icon
3

Decreased from 4 to 3

New Scoring Scheme
Description

A de novo occurrence of the 7p11.2 folate-sensitive fragile site FRA7A was identified in a male ASD patient due to a CGG-repeat expansion mutation (~450 repeats) in a 5' intron of the ZNF713 gene; in a second unrelated family, three siblings with ASD and their unaffected father were found to carry FRA7A pre-mutations (Metsu et al., 2014).

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

Decreased from 4 to 4

Description

A de novo occurrence of the 7p11.2 folate-sensitive fragile site FRA7A was identified in a male ASD patient due to a CGG-repeat expansion mutation (~450 repeats) in a 5' intron of the ZNF713 gene; in a second unrelated family, three siblings with ASD and their unaffected father were found to carry FRA7A pre-mutations (Metsu et al., 2014).

Reports Added
[Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.2019]
1/1/2016
icon
4

Increased from to 4

Description

A de novo occurrence of the 7p11.2 folate-sensitive fragile site FRA7A was identified in a male ASD patient due to a CGG-repeat expansion mutation (~450 repeats) in a 5' intron of the ZNF713 gene; in a second unrelated family, three siblings with ASD and their unaffected father were found to carry FRA7A pre-mutations (Metsu et al., 2014).

Krishnan Probability Score

Score 0.48160091136365

Ranking 7917/25841 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 0.0011151979958795

Ranking 11708/18225 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 0.93543412131544

Ranking 12876/18665 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
Larsen Cumulative Evidence Score

Score 13.5

Ranking 146/461 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.
Original Source
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