PWWP2AP1 PWWP domain containing 2A pseudogene 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PWWP2AP1provided by HGNC
Official Full Name: PWWP domain containing 2A pseudogene 1provided by HGNC
Primary source: HGNC:HGNC:39709
See related: AllianceGenome:HGNC:39709
Gene type: pseudo
RefSeq status: INFERRED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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Genomic context

Location:: 13q31.1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (80655397..80657198)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (79884875..79886677)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (81229532..81231333)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The promoter CpG island (CGI) of PWWP2AP1 is a constitutively hemimethylated, nonimprinted differentially methylated region (DMR), which exhibits oocyte-derived methylation asymmetry. In blood DNA, both parental alleles of the rs1176323 SNP are methylated. The intermediate methylation at the DMR is parent-of-origin-independent, and it may be the result of random (e.g., switchable) allelic methylation of this domain.
Title: Maternal 5(m)CpG Imprints at the PARD6G-AS1 and GCSAML Differentially Methylated Regions Are Decoupled From Parent-of-Origin Expression Effects in Multiple Human Tissues.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Other Names

PWWP domain-containing protein 2A pseudogene

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.