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

    Gene ID: 401398, updated on 10-Dec-2024

    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (124929873..125145234)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (126247277..126462620)
    RS_2024_09 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)

    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_2024_08

    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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