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LOC121740712 Sharpr-MPRA regulatory region 6380 [ Homo sapiens (human) ]

Gene ID: 121740712, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121740712
Gene description
Sharpr-MPRA regulatory region 6380
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 DNase unmatched - State 17:Gen3', transcription 3' end of genes, highly expressed, more exonic) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121740712 in Genome Data Viewer
Location:
8p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (25345393..25345687)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (25620591..25620885)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (25202909..25203203)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901912 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19032 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19033 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:25054518-25055458 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:25055459-25056397 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19034 Neighboring gene dedicator of cytokinesis 5 Neighboring gene MPRA-validated peak6954 silencer Neighboring gene oocyte-secreted protein 4B-like Neighboring gene Sharpr-MPRA regulatory region 2993 Neighboring gene Sharpr-MPRA regulatory region 10341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27123 Neighboring gene uncharacterized LOC105379331 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:25217237-25217846 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:25217847-25218454 Neighboring gene microRNA 6876 Neighboring gene Sharpr-MPRA regulatory region 10380 Neighboring gene gonadotropin releasing hormone 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_075774.1 

    Range
    101..395
    Download
    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    25345393..25345687
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    25620591..25620885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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