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LOC128772298 melanoma risk locus-associated MPRA allelic enhancer 6:90941289 [ Homo sapiens (human) ]

Gene ID: 128772298, updated on 10-Oct-2023

Summary

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Gene symbol
LOC128772298
Gene description
melanoma risk locus-associated MPRA allelic enhancer 6:90941289
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, rs2021716, that is in strong linkage disequilibrium with a melanoma risk locus identified at 6q15 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 C283T melanocytes, where differences in transcriptional activity were observed between the reference and alternative rs2021716 alleles. [provided by RefSeq, Mar 2023]
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Genomic context

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See LOC128772298 in Genome Data Viewer
Location:
chromosome: 6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (90231498..90231642)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (91443183..91443327)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene BTB domain and CNC homolog 2 Neighboring gene RN7SK pseudogene 110 Neighboring gene Sharpr-MPRA regulatory region 1684 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:90866227 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:90866333-90867532 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:90883525 Neighboring gene uncharacterized LOC105377890 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:90894000-90895199 Neighboring gene Sharpr-MPRA regulatory region 6453 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:90927428-90928086 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:90931785-90932984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24833 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:90981657 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:90982387 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:90995265-90995765 Neighboring gene uncharacterized LOC124901361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17398 Neighboring gene uncharacterized LOC105377891 Neighboring gene NANOG hESC enhancer GRCh37_chr6:91008275-91008776 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:91012867 Neighboring gene microRNA 4464

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_149789.1 

    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    90231498..90231642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    91443183..91443327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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