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LOC121048728 Sharpr-MPRA regulatory region 13089 [ Homo sapiens (human) ]

Gene ID: 121048728, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121048728
Gene description
Sharpr-MPRA regulatory region 13089
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 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, Apr 2021]
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Genomic context

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See LOC121048728 in Genome Data Viewer
Location:
3q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (186495340..186495634)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (189311067..189311361)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (186213129..186213423)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2020 Neighboring gene long intergenic non-protein coding RNA 2052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:186194185-186194957 Neighboring gene long intergenic non-protein coding RNA 2051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20938 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20941 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20942 Neighboring gene crystallin gamma S Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:186270000-186271199 Neighboring gene TBCC domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14986

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_074099.1 

    Range
    101..395
    Download
    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    186495340..186495634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    189311067..189311361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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