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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

Gene LinkOut

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