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    LOC100507053 uncharacterized LOC100507053 [ Homo sapiens (human) ]

    Gene ID: 100507053, updated on 17-Sep-2024

    Summary

    Gene symbol
    LOC100507053
    Gene description
    uncharacterized LOC100507053
    See related
    Ensembl:ENSG00000246090
    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
    Biased expression in liver (RPKM 21.4), endometrium (RPKM 2.5) and 3 other tissues See more
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    Genomic context

    See LOC100507053 in Genome Data Viewer
    Location:
    4q23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (99088857..99301356)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (102403757..102616169)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (100010008..100222513)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene methionyl aminopeptidase 1 Neighboring gene activator of basal transcription 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21737 Neighboring gene ADH5 promoter Neighboring gene Sharpr-MPRA regulatory region 12553 Neighboring gene uncharacterized LOC124900739 Neighboring gene alcohol dehydrogenase 5 (class III), chi polypeptide Neighboring gene ADH4 promoter Neighboring gene 4E3 enhancer upstream of ADH4 Neighboring gene alcohol dehydrogenase 4 (class II), pi polypeptide Neighboring gene proliferating cell nuclear antigen pseudogene 1 Neighboring gene proliferating cell nuclear antigen pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr4:100126223-100126724 Neighboring gene ADH6 promoter Neighboring gene alcohol dehydrogenase 6 (class V) Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:100207424-100208623 Neighboring gene ADH1A promoter Neighboring gene NANOG hESC enhancer GRCh37_chr4:100231513-100232014 Neighboring gene alcohol dehydrogenase 1A (class I), alpha polypeptide Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:100238861-100240060 Neighboring gene ADH1B promoter Neighboring gene alcohol dehydrogenase 1B (class I), beta polypeptide Neighboring gene ADH1C promoter region Neighboring gene alcohol dehydrogenase 1C (class I), gamma polypeptide

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Phenotypes

    EBI GWAS Catalog

    Description
    Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
    EBI GWAS Catalog
    Genetic determinants influencing human serum metabolome among African Americans.
    EBI GWAS Catalog
    Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    General gene information

    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_037884.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC019131, AC097530, AP002026, BX647987
      Related
      ENST00000500358.6

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      99088857..99301356
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      102403757..102616169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)