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LOC121627822 Sharpr-MPRA regulatory region 1937 [ Homo sapiens (human) ]

Gene ID: 121627822, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121627822
Gene description
Sharpr-MPRA regulatory region 1937
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 both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 24:Quies, heterochromatin/dead zone) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 24:Quies). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121627822 in Genome Data Viewer
Location:
18p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (7966711..7967005)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (8129840..8130134)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (7966709..7967003)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9270 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:7577695-7578451 Neighboring gene protein tyrosine phosphatase receptor type M Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:7727774-7728973 Neighboring gene NANOG hESC enhancer GRCh37_chr18:7734824-7735325 Neighboring gene uncharacterized LOC124904242 Neighboring gene NANOG hESC enhancer GRCh37_chr18:7957710-7958211 Neighboring gene small nucleolar RNA U3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:8045403-8046602 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:8062594-8063198 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:8066484-8067132 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:8084054-8084920 Neighboring gene NANOG hESC enhancer GRCh37_chr18:8088787-8089335 Neighboring gene uncharacterized LOC107985119

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_075012.1 

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    7966711..7967005
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    8129840..8130134
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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