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LOC121853030 Sharpr-MPRA regulatory region 1599 [ Homo sapiens (human) ]

Gene ID: 121853030, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121853030
Gene description
Sharpr-MPRA regulatory region 1599
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 unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC121853030 in Genome Data Viewer
Location:
21q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (41610469..41610763)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (39999502..39999796)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (43030629..43030923)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372809 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:42952959-42954158 Neighboring gene prostate cancer expressed EZH2 associated transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43024594-43025470 Neighboring gene uncharacterized LOC124905060 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43025471-43026346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43032765-43033428 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43040871-43041391 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:43042456-43043655 Neighboring gene uncharacterized LOC105372812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43079701-43080288 Neighboring gene uncharacterized LOC107985478

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_076138.1 

    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    41610469..41610763
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    39999502..39999796
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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