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LOC121852964 Sharpr-MPRA regulatory region 1696 [ Homo sapiens (human) ]

Gene ID: 121852964, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121852964
Gene description
Sharpr-MPRA regulatory region 1696
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 13:Ctcf, distal CTCF/candidate insulator without open chromatin). [provided by RefSeq, Jul 2021]
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Genomic context

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Location:
18q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (33231545..33231839)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (33423330..33423624)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (30811509..30811803)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985186 Neighboring gene uncharacterized LOC105372059 Neighboring gene coiled-coil domain containing 178 Neighboring gene NANOG hESC enhancer GRCh37_chr18:30880684-30881216 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:31003580-31004779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:31157523-31158511 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:31158512-31159499 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:31164967-31165678 Neighboring gene ASXL transcriptional regulator 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9391 Neighboring gene uncharacterized LOC124904347 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:31416777-31417720 Neighboring gene nucleolar protein 4 Neighboring gene NANOG hESC enhancer GRCh37_chr18:31583567-31584247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9392 Neighboring gene uncharacterized LOC124904279

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_076071.1 

    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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    33231545..33231839
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    33423330..33423624
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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