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    HMGA2-AS1 HMGA2 antisense RNA 1 [ Homo sapiens (human) ]

    Gene ID: 100129940, updated on 10-Dec-2024

    Summary

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    Official Symbol
    HMGA2-AS1provided by HGNC
    Official Full Name
    HMGA2 antisense RNA 1provided by HGNC
    Primary source
    HGNC:HGNC:53973
    See related
    Ensembl:ENSG00000197301 AllianceGenome:HGNC:53973
    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
    Orthologs
    all
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    Genomic context

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    See HMGA2-AS1 in Genome Data Viewer
    Location:
    12q14.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (65851227..65882325, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (65830729..65861850, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (66245007..66276105, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:66050206-66051405 Neighboring gene PEST containing nuclear protein pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 9176 Neighboring gene MPRA-validated peak1767 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:66132196-66132696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:66135292-66135792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:66135793-66136293 Neighboring gene MPRA-validated peak1768 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6609 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:66155026-66155586 Neighboring gene Sharpr-MPRA regulatory region 15140 Neighboring gene NANOG hESC enhancer GRCh37_chr12:66172695-66173196 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:66175547-66176083 Neighboring gene ribosomal protein SA pseudogene 52 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:66192736-66193237 Neighboring gene Sharpr-MPRA regulatory region 869 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:66219383-66219990 Neighboring gene high mobility group AT-hook 2 Neighboring gene MPRA-validated peak1769 silencer Neighboring gene MPRA-validated peak1770 silencer Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:66285256-66286168 Neighboring gene hESC enhancers GRCh37_chr12:66289853-66290620 and GRCh37_chr12:66290621-66291388 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:66291389-66292155 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:66320206-66320716 Neighboring gene HNF4 motif-containing MPRA enhancer 102 Neighboring gene uncharacterized LOC124902955 Neighboring gene negCOR silencer S1 Neighboring gene microRNA 6074

    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. Identification and characterization of novel human transcripts embedded within HMGA2 in t(12;14)(q15;q24.1) uterine leiomyoma. Ingraham SE, et al. Mutat Res, 2006 Dec 1. PMID 17045619
    2. Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes. Ng MC, et al. PLoS Genet, 2014 Aug. PMID 25102180, Free PMC Article

    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
    Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Other Names

    • RP11-366L20.2

    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_120478.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains distinct exons compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
      Source sequence(s)
      AY387665
      Related
      ENST00000504038.2

    2. NR_158984.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC090673
      Related
      ENST00000356215.5

    3. NR_158985.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC090673, AC107308

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      65851227..65882325 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      65830729..65861850 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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    Research Materials