Aliases: HSPC045, HSPC226, NYD-SP6
Chromosome No: 3
Chromosome Band: 3p21.1
Genetic Category: Rare single gene variant
ASD Reports: 4
Recent Reports: 0
Annotated variants: 15
Associated CNVs: 3
Evidence score: 2
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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-molecular 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.
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