Human Gene Module / Chromosome 19 / ZBTB7A

ZBTB7Azinc finger and BTB domain containing 7A

SFARI Gene Score
S
Syndromic Syndromic
Autism Reports / Total Reports
1 / 2
Rare Variants / Common Variants
13 / 0
Aliases
-
Associated Syndromes
-
Chromosome Band
19p13.3
Associated Disorders
-
Relevance to Autism

von der Lippe et al., 2021 identified 12 individuals with heterozygous variant in the ZBTB7A gene presenting with a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin; autistic features were observed in 7/12 individuals with ZBTB7A variants, five of whom were diagnosed with autism spectrum disorder.

Molecular Function

Transcription factor that represses the transcription of a wide range of genes involved in cell proliferation and differentiation

SFARI Genomic Platforms
Reports related to ZBTB7A (2 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary - von der Lippe C et al. (2022) No ASD or autistic features
2 Support - Zhou X et al. (2022) Yes -
Rare Variants   (13)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.721C>A p.Pro241Thr missense_variant De novo - - 35982159 Zhou X et al. (2022)
c.832G>T p.Glu278Ter stop_gained De novo - - 34515416 von der Lippe C et al. (2022)
c.1108C>T p.Gln370Ter stop_gained De novo - - 34515416 von der Lippe C et al. (2022)
c.331G>C p.Ala111Pro missense_variant De novo - - 34515416 von der Lippe C et al. (2022)
c.1214C>A p.Thr405Lys missense_variant De novo - - 34515416 von der Lippe C et al. (2022)
c.1354G>A p.Asp452Asn missense_variant De novo - - 34515416 von der Lippe C et al. (2022)
c.1446_1447del p.His482GlnfsTer57 frameshift_variant De novo - - 35982159 Zhou X et al. (2022)
c.167_168delinsTT p.Ser56Ile missense_variant Unknown - - 34515416 von der Lippe C et al. (2022)
c.859_860delinsCT p.Ala287Leu missense_variant De novo - - 34515416 von der Lippe C et al. (2022)
c.983del p.Gly328AlafsTer26 frameshift_variant De novo - - 34515416 von der Lippe C et al. (2022)
c.1588del p.Arg530GlyfsTer27 frameshift_variant De novo - - 34515416 von der Lippe C et al. (2022)
c.1247dup p.Val417GlyfsTer123 frameshift_variant De novo - - 34515416 von der Lippe C et al. (2022)
c.642dup p.Asn215GlnfsTer35 frameshift_variant Familial Paternal Multiplex 34515416 von der Lippe C et al. (2022)
Common Variants  

No common variants reported.

SFARI Gene score
S

Syndromic

Score Delta: Score remained at S

The syndromic category includes mutations that are associated with a substantial degree of increased risk and consistently linked to additional characteristics not required for an ASD diagnosis. If there is independent evidence implicating a gene in idiopathic ASD, it will be listed as "#S" (e.g., 2S, 3S, etc.). If there is no such independent evidence, the gene will be listed simply as "S."

Krishnan Probability Score

Score 0.51527250160046

Ranking 1762/25841 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.
Sanders TADA Score

Score 0.93976817937456

Ranking 14327/18665 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).
Zhang D Score

Score 0.10087771219203

Ranking 6124/20870 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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