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LOC121132700 Sharpr-MPRA regulatory region 8521 [ Homo sapiens (human) ]

Gene ID: 121132700, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121132700
Gene description
Sharpr-MPRA regulatory region 8521
Gene type
biological region
Feature type(s)
regulatory: enhancer
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 was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 23:Low, low signal proximal to active elements). [provided by RefSeq, Apr 2021]
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Genomic context

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Location:
6q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (90496630..90496924)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (91708234..91708528)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (91206349..91206643)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene BTB domain and CNC homolog 2 Neighboring gene uncharacterized LOC124901361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17398 Neighboring gene uncharacterized LOC105377891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24834 Neighboring gene NANOG hESC enhancer GRCh37_chr6:91008275-91008776 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:91012867 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:91036267 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:91037287 Neighboring gene MPRA-validated peak5961 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:91078586-91079785 Neighboring gene microRNA 4464 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:91095435-91096029 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:91117202-91117738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24835 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:91122537-91123478 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:91123479-91124420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17399 Neighboring gene uncharacterized LOC124901362 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:91204071-91204730 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:91204758-91205314 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:91205315-91205871 Neighboring gene MPRA-validated peak5962 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17400 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:91296727-91296923 Neighboring gene uncharacterized LOC124901363 Neighboring gene NANOG hESC enhancer GRCh37_chr6:91307010-91307575 Neighboring gene mitogen-activated protein kinase kinase kinase 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:91319600-91320100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:91320101-91320601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17401 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:91321559-91322507 Neighboring gene uncharacterized LOC107986623 Neighboring gene uncharacterized LOC105377893

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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, 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

See Variation Viewer (GRCh37.p13)

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_074242.1 

    Range
    101..395
    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
    90496630..90496924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    91708234..91708528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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