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ANKRD62P1-PARP4P3 ANKRD62P1-PARP4P3 readthrough, transcribed pseudogene [ Homo sapiens (human) ]

Gene ID: 23783, updated on 10-Oct-2023

Summary

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Official Symbol
ANKRD62P1-PARP4P3provided by HGNC
Official Full Name
ANKRD62P1-PARP4P3 readthrough, transcribed pseudogeneprovided by HGNC
Primary source
HGNC:HGNC:42393
See related
AllianceGenome:HGNC:42393
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VWFP1-ANKRD62P1-PARP4P3
Summary
This locus represents putative naturally-occurring readthrough transcription between two pseudogenes, ANKRD62P1 (ankyrin repeat domain 62 pseudogene 1) and PARP4P3 (poly(ADP-ribose) polymerase family member 4 pseudogene 3). The individual pseudogene loci are not curated as transcribed regions. The readthrough transcript would likely not encode a functional protein. [provided by RefSeq, Jan 2016]
Expression
Low expression observed in reference dataset See more
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Genomic context

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See ANKRD62P1-PARP4P3 in Genome Data Viewer
Location:
22q11.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (16653708..16675540, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (17330281..17352093, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17134598..17156430, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene fatty acid binding protein 5 pseudogene 11 Neighboring gene TPTE pseudogene 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62165 Neighboring gene solute carrier family 25 member 15 pseudogene 5 Neighboring gene MPRA-validated peak4438 silencer Neighboring gene poly(ADP-ribose) polymerase family member 4 pseudogene 3 Neighboring gene ankyrin repeat domain 62 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:17177994-17178151 Neighboring gene von Willebrand factor pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 1665

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Genetic variants of XRCC1, APE1, and ADPRT genes and risk of bladder cancer. Wang M, et al. DNA Cell Biol, 2010 Jun. PMID 20218899
  2. Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Smith TR, et al. Carcinogenesis, 2008 Nov. PMID 18701435, Free PMC Article
  3. Decoding the fine-scale structure of a breast cancer genome and transcriptome. Volik S, et al. Genome Res, 2006 Mar. PMID 16461635, Free PMC Article
  4. Polymorphisms in the base excision repair pathway and graft-versus-host disease. Arora M, et al. Leukemia, 2010 Aug. PMID 20574454, Free PMC Article
  5. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. Monsees GM, et al. Breast Cancer Res Treat, 2011 Jan. PMID 20496165, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Polymorphisms in the base excision repair pathway and graft-versus-host disease.
  2. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.
Submit: New GeneRIF Correction

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)

Genotypes

General gene information

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Other Names

  • ANKRD62P1-PARP4P3 readthrough (non-protein coding)

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.

RNA

  1. NR_040115.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AP000365

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    16653708..16675540 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    17330281..17352093 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_002623.4: Suppressed sequence

    Description
    NG_002623.4: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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