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LOC121847943 Sharpr-MPRA regulatory region 4500 [ Homo sapiens (human) ]

Gene ID: 121847943, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121847943
Gene description
Sharpr-MPRA regulatory region 4500
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, Jul 2021]
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Genomic context

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See LOC121847943 in Genome Data Viewer
Location:
15q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40565970..40566264)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38371661..38371955)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40858169..40858463)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 32 Neighboring gene RNA, U6 small nuclear 516, pseudogene Neighboring gene mitochondrial ribosomal protein L42 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9248 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40846211-40846831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9250 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:40859416-40859595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9251 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40861831-40862330 Neighboring gene RNA pseudouridine synthase domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6339 Neighboring gene tRNA-Ser (anticodon GCT) 4-2

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 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_075969.1 

    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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    40565970..40566264
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    38371661..38371955
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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