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LOC121366043 Sharpr-MPRA regulatory region 4256 [ Homo sapiens (human) ]

Gene ID: 121366043, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121366043
Gene description
Sharpr-MPRA regulatory region 4256
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 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, May 2021]
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Genomic context

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See LOC121366043 in Genome Data Viewer
Location:
10p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (14181250..14181544)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (14194323..14194617)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (14223249..14223543)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene FERM domain containing 4A Neighboring gene uncharacterized LOC105376425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3068 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:14073952-14074117 Neighboring gene uncharacterized LOC101928453 Neighboring gene NANOG hESC enhancer GRCh37_chr10:14135940-14136630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:14140561-14141060 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:14209403-14209904 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:14209905-14210404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:14217447-14217946 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:14219306-14219467 Neighboring gene uncharacterized LOC124902378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3069 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:14297701-14297910 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_11398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:14406081-14406580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:14414401-14414901 Neighboring gene microRNA 4293

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_074393.1 

    Range
    101..395
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    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    14181250..14181544
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    14194323..14194617
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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