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LOC128772272 melanoma risk locus-associated MPRA allelic enhancer 5:90277675 [ Homo sapiens (human) ]

Gene ID: 128772272, updated on 10-Oct-2023

Summary

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Gene symbol
LOC128772272
Gene description
melanoma risk locus-associated MPRA allelic enhancer 5:90277675
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic sequence includes a genetic variant, rs11742679, that is in strong linkage disequilibrium with a melanoma risk locus identified at 5q14.3 in genome-wide association studies (GWASs), and for which the reference allele has a risk effect. This region was validated as a functional enhancer by massively parallel reporter assays (MPRAs) in UACC903 melanoma cells, where differences in transcriptional activity were observed between the reference and alternative rs11742679 alleles. [provided by RefSeq, Mar 2023]
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Genomic context

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See LOC128772272 in Genome Data Viewer
Location:
chromosome: 5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (90981786..90981930)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (91468272..91468416)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:89820083-89820584 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:89824672-89825172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22780 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:89838485-89839226 Neighboring gene NANOG hESC enhancer GRCh37_chr5:89850082-89850882 Neighboring gene NANOG hESC enhancer GRCh37_chr5:89853234-89853735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16170 Neighboring gene LysM domain containing 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:89900954-89901152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22781 Neighboring gene adhesion G protein-coupled receptor V1 Neighboring gene NANOG hESC enhancer GRCh37_chr5:89940736-89941239 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:89963673-89964204 Neighboring gene NANOG hESC enhancer GRCh37_chr5:89968220-89968777 Neighboring gene uncharacterized LOC105379077 Neighboring gene NANOG hESC enhancer GRCh37_chr5:90033573-90034074 Neighboring gene MPRA-validated peak5350 silencer Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90190300 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90212892 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:90225253-90225805 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90264394 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90266068 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90269376 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90272756 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90277863 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 5:90276298 Neighboring gene Sharpr-MPRA regulatory region 3426 Neighboring gene LYSET pseudogene 1 Neighboring gene uncharacterized LOC107986432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22784 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:90496731-90496943 Neighboring gene uncharacterized LOC107986433

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity. Long E, et al. Am J Hum Genet, 2022 Dec 1. PMID 36423637, Free PMC Article
  2. Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility. Landi MT, et al. Nat Genet, 2020 May. PMID 32341527, Free PMC Article

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

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.

Genomic

  1. NG_149763.1 

    Range
    101..245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    90981786..90981930
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    91468272..91468416
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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