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POT1-AS1 POT1 antisense RNA 1 [ Homo sapiens (human) ]

Gene ID: 401398, updated on 10-Oct-2023

Summary

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Official Symbol
POT1-AS1provided by HGNC
Official Full Name
POT1 antisense RNA 1provided by HGNC
Primary source
HGNC:HGNC:49459
See related
Ensembl:ENSG00000224897 AllianceGenome:HGNC:49459
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Low expression observed in reference dataset See more
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Genomic context

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See POT1-AS1 in Genome Data Viewer
Location:
7q31.33
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (124929873..125145234)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (126247277..126462620)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (124569927..124785288)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5263 Neighboring gene long intergenic non-protein coding RNA 3043 Neighboring gene Sharpr-MPRA regulatory region 10744 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:124449868 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:124472442-124472991 Neighboring gene protection of telomeres 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:124533191-124533332 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:124542275 Neighboring gene Sharpr-MPRA regulatory region 5954 Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:124774965-124775464 Neighboring gene chromosome 11 open reading frame 58 pseudogene Neighboring gene long intergenic non-protein coding RNA 2830

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. 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  3. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_125718.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    AC019155, AC096665, BC142949, BM674798, DA063136
    Related
    ENST00000453342.5

  2. NR_125719.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks five internal exons and contains two alternate internal exons, resulting in a shorter transcript, compared to variant 1.
    Source sequence(s)
    AC019155, BC142949, BM674798, BX648695, DA063136
    Related
    ENST00000449642.5

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    124929873..125145234
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    126247277..126462620
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001023566.1: Suppressed sequence

    Description
    NM_001023566.1 was permanently suppressed because it is based on sequence from an endogenous retrovirus.
Nucleotide Protein
Heading Accession and Version

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