Human Gene Module / Chromosome 3 / PHF7

PHF7PHD finger protein 7

Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
2 / 3
Rare Variants / Common Variants
14 / 0
Aliases
PHF7, HSPC045,  HSPC226,  NYD-SP6
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
3p21.1
Associated Disorders
DD/NDD, ID
Relevance to Autism

A de novo likely gene-disruptive (LGD) variant in PHF7 was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014). Single-molecule molecular inversion probe (smMIP) sequencing of 3,363 probands from cohorts with a primary diagnosis of ASD in Wang et al., 2020 identified 5 ASD-associated LGD variants and one ASD-associated missense variant with a CADD score 30 in the PHF7 gene.

Molecular Function

Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. This gene is expressed in the testis in Sertoli cells but not germ cells. The protein encoded by this gene contains plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. The protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis.

Reports related to PHF7 (3 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Support The contribution of de novo coding mutations to autism spectrum disorder Iossifov I et al. (2014) Yes -
2 Support Prevalence and architecture of de novo mutations in developmental disorders et al. (2017) No -
3 Primary Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders Wang T et al. (2020) Yes DD, ID
Rare Variants   (14)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.112C>T p.Arg38Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
c.803-1G>C - splice_site_variant Unknown - - 33004838 Wang T et al. (2020)
c.920-1G>C - splice_site_variant Unknown - - 33004838 Wang T et al. (2020)
c.1040C>T p.Pro347Leu missense_variant De novo NA - 28135719 et al. (2017)
c.275G>A p.Arg92Gln missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.686C>T p.Ala229Val missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.829G>A p.Gly277Arg missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.41+1G>A - splice_site_variant Unknown Not maternal - 33004838 Wang T et al. (2020)
c.587dup p.Ser197IlefsTer12 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.1137dup p.Ser380IlefsTer8 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.111_120del p.Arg38GlyfsTer6 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.939_940del p.Asp315HisfsTer11 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.388del p.Leu130PhefsTer89 frameshift_variant De novo NA - 25363768 Iossifov I et al. (2014)
c.356dup p.His120ProfsTer23 frameshift_variant Familial Maternal - 33004838 Wang T et al. (2020)
Common Variants  

No common variants reported.

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