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LOC121627896 Sharpr-MPRA regulatory region 11499 [ Homo sapiens (human) ]

Gene ID: 121627896, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121627896
Gene description
Sharpr-MPRA regulatory region 11499
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 matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 13:Ctcf, distal CTCF/candidate insulator without open chromatin). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121627896 in Genome Data Viewer
Location:
20p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (19802445..19802739)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (19854485..19854779)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (19783089..19783383)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929547 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:19188093-19188651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12705 Neighboring gene uncharacterized LOC124904879 Neighboring gene SLC24A3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17597 Neighboring gene solute carrier family 24 member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17600 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:19477291-19478490 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:19496927-19497144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:19563919-19564420 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:19600691-19601604 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:19658252-19659230 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:19659231-19660207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:19691947-19692447 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:19739291-19739865 Neighboring gene cutaneous T cell lymphoma-associated antigen 1 pseudogene Neighboring gene Ras and Rab interactor 2 Neighboring gene ribosomal protein L12 pseudogene 12

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_075087.1 

    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    19802445..19802739
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    19854485..19854779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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