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    KU-MEL-3 uncharacterized LOC497048 [ Homo sapiens (human) ]

    Gene ID: 497048, updated on 10-Oct-2023

    Summary

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    Gene symbol
    KU-MEL-3
    Gene description
    uncharacterized LOC497048
    See related
    Ensembl:ENSG00000205444
    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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    Location:
    6p25.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (4610565..4611919)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (4479482..4480836)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (4610799..4612153)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374894 Neighboring gene uncharacterized LOC124901247 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:4466860-4468059 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:4487436-4488635 Neighboring gene long intergenic non-protein coding RNA 2533 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:4503825-4504510 Neighboring gene uncharacterized LOC124901549 Neighboring gene Sharpr-MPRA regulatory region 6592 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:4655389-4655960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:4655961-4656532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:4660676-4661494 Neighboring gene Sharpr-MPRA regulatory region 4929 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:4694403-4694656 Neighboring gene proteasome 26S subunit, ATPase 1 pseudogene 11

    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. Systematic identification of human melanoma antigens using serial analysis of gene expression (SAGE). Matsuzaki Y, et al. J Immunother, 2005 Jan-Feb. PMID 15614040
    2. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article
    3. 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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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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)

    Genotypes

    General gene information

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    Markers

    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_122107.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL034376
      Related
      ENST00000380106.4

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      4610565..4611919
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      4479482..4480836
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001011540.1: Suppressed sequence

      Description
      NM_001011540.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version

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