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LOC121725126 Sharpr-MPRA regulatory region 5168 [ Homo sapiens (human) ]

Gene ID: 121725126, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121725126
Gene description
Sharpr-MPRA regulatory region 5168
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 DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121725126 in Genome Data Viewer
Location:
2q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (241386614..241386908)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241885836..241886130)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242326029..242326323)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene high density lipoprotein binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17424 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242255088-242255812 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242255813-242256537 Neighboring gene septin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12537 Neighboring gene uncharacterized LOC105373973 Neighboring gene FERM, ARH/RhoGEF and pleckstrin domain protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242386413-242387062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242407765-242408327 Neighboring gene microRNA 3133 Neighboring gene KCTD5 pseudogene 1

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_075595.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    241386614..241386908
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    241885836..241886130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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