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LOC121847990 Sharpr-MPRA regulatory region 4373 [ Homo sapiens (human) ]

Gene ID: 121847990, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121847990
Gene description
Sharpr-MPRA regulatory region 4373
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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Location:
16q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (70864726..70865020)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (76675874..76676168)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (70898629..70898923)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene VAC14 component of PIKFYVE complex Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:70834747-70835369 Neighboring gene tRNA-Gly (anticodon GCC) 2-5 Neighboring gene RNA, U6atac small nuclear 25, pseudogene Neighboring gene HYDIN axonemal central pair apparatus protein Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:71020999-71022198 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:71042849-71044048 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:71061796-71062512 Neighboring gene Sharpr-MPRA regulatory region 1178 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:71113179-71114378 Neighboring gene Sharpr-MPRA regulatory region 1449 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:71195224-71195424 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:71289688-71289924 Neighboring gene uncharacterized LOC102723786 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7676 Neighboring gene uncharacterized LOC102725168 Neighboring gene cap methyltransferase 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 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_076010.1 

    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    70864726..70865020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    76675874..76676168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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