Human Gene Module / Chromosome 7 / ZNF713

ZNF713Zinc finger protein 713

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
2 / 2
Rare Variants / Common Variants
3 / 0
Aliases
-
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
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.

Reports related to ZNF713 (2 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 -
Rare Variants   (3)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.94G>T p.Glu32Ter stop_gained Familial Paternal Multiplex 31398340 Ruzzo EK , et al. (2019)
(CGG)~450 - trinucleotide_repeat_microsatellite_feature De novo NA 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
3

Suggestive Evidence

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: Decreased from 4 to 3

3

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.

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).

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.
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
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).
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.
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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.
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