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HNRNPA1P57 heterogeneous nuclear ribonucleoprotein A1 pseudogene 57 [ Homo sapiens (human) ]

Gene ID: 101060039, updated on 10-Oct-2023

Summary

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Official Symbol
HNRNPA1P57provided by HGNC
Official Full Name
heterogeneous nuclear ribonucleoprotein A1 pseudogene 57provided by HGNC
Primary source
HGNC:HGNC:48787
See related
Ensembl:ENSG00000237442 AllianceGenome:HGNC:48787
Gene type
pseudo
RefSeq status
MODEL
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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Genomic context

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Location:
2p22.1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (41156565..41157555)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (41165754..41166744)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374497 Neighboring gene uncharacterized LOC105374491 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:40978387-40978561 Neighboring gene Sharpr-MPRA regulatory region 3356 Neighboring gene long intergenic non-protein coding RNA 1794 Neighboring gene uncharacterized LOC105374506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15623 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:41936889-41938088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15624 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:41949350-41950549 Neighboring gene MPRA-validated peak3673 silencer Neighboring gene lactate dehydrogenase A pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. A common variant in RAB27A gene is associated with fractional exhaled nitric oxide levels in adults. Bouzigon E, et al. Clin Exp Allergy, 2015 Apr. PMID 25431337, Free PMC Article
  2. A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels. López S, et al. Mitochondrion, 2014 Sep. PMID 25240745

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A Common variant in RAB27A gene is associated with fractional exhaled nitric oxide levels in adults.
EBI GWAS Catalog
A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
EBI GWAS Catalog

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh38)

NCBI Reference Sequences (RefSeq)

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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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    41156565..41157555
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    41165754..41166744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
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