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    LOC100506207 uncharacterized LOC100506207 [ Homo sapiens (human) ]

    Gene ID: 100506207, updated on 10-Dec-2024

    Summary

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    Gene symbol
    LOC100506207
    Gene description
    uncharacterized LOC100506207
    See related
    Ensembl:ENSG00000285219
    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
    Broad expression in testis (RPKM 1.7), kidney (RPKM 0.4) and 21 other tissues See more
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    Genomic context

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    See LOC100506207 in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (8435623..8785445)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (8304907..8654850)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (8435856..8785678)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374911 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96039 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:8383593-8384467 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:8387849-8389048 Neighboring gene MPRA-validated peak5649 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96052 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96058 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96069 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96067 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96073 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96077 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96094 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:8435518-8436059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23962 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96137 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96126 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96121 Neighboring gene solute carrier family 35 member B3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96153 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96161 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96186 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96299 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96383 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96450 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96472 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96469 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:8619731-8620403 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:8627414-8628613 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96605 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96748 Neighboring gene hepatocellular carcinoma up-regulated long non-coding RNA Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_96779 Neighboring gene uncharacterized LOC112267952 Neighboring gene uncharacterized LOC105374914 Neighboring gene Sharpr-MPRA regulatory region 5599

    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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    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    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_038979.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AL135912, AL355815, BC040612, CD243731
      Related
      ENST00000646876.1

    2. NR_038980.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon, includes two alternate exons and uses an alternate splice site, compared to variant 1.
      Source sequence(s)
      AI125458, AL355815, BC040612, BX111366, CD243731
      Related
      ENST00000644441.1

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      8435623..8785445
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      8304907..8654850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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