U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PEG13 paternally expressed 13 [ Homo sapiens (human) ]

Gene ID: 359809, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Official Symbol
PEG13provided by HGNC
Official Full Name
paternally expressed 13provided by HGNC
Primary source
HGNC:HGNC:19969
See related
Ensembl:ENSG00000282164 AllianceGenome:HGNC:19969
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
8q24.3
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (140094894..140100535, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (141214976..141220617, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (141104993..141110634, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene trafficking protein particle complex subunit 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140949298-140949857 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140951259-140951760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140951761-140952260 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:140965559-140965725 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:140983608-140984108 Neighboring gene chromosome 8 putative open reading frame 17 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr8:141058150-141058375 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:141067573-141068074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:141071871-141072712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:141109891-141110390 Neighboring gene uncharacterized LOC124902029 Neighboring gene MPRA-validated peak7188 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:141274731-141275554 Neighboring gene uncharacterized LOC105375779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:141282982-141283482

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus. Court F, et al. Epigenetics Chromatin, 2014 Mar 25. PMID 24667089, Free PMC Article
  2. Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment. Court F, et al. Genome Res, 2014 Apr. PMID 24402520, Free PMC Article
  3. Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster. Sánchez Delgado M, et al. Am J Med Genet B Neuropsychiatr Genet, 2014 Sep. PMID 24980697
  4. Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human. Ruf N, et al. Hum Mol Genet, 2007 Nov 1. PMID 17704508
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Genotypes

General gene information

Go to the top of the page Help

Clone Names

  • FLJ97021, DKFZp761H1212

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_144431.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC040978, DA321270, R46233
    Related
    ENST00000631594.3

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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    140094894..140100535 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    141214976..141220617 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases