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LOC121627937 Sharpr-MPRA regulatory region 13066 [ Homo sapiens (human) ]

Gene ID: 121627937, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121627937
Gene description
Sharpr-MPRA regulatory region 13066
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 non-DNase unmatched - State 22:ReprW, weaker Polycomb repression) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
22q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (26777486..26777780)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (27238395..27238689)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (27173449..27173743)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27041123-27041688 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27043802-27044604 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27045408-27046209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18797 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:27057049-27058028 Neighboring gene iron-sulfur cluster assembly 2 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:27061097-27061597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27063956-27064539 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27064540-27065122 Neighboring gene myocardial infarction associated transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27076707-27077531 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27077532-27078355 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:27085634-27086255 Neighboring gene MIAT neighbor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18799 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27146977-27147974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27147975-27148973 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27148974-27149971 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:27179387-27180586 Neighboring gene Sharpr-MPRA regulatory region 7329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:27196413-27196924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18800 Neighboring gene Sharpr-MPRA regulatory region 5469 Neighboring gene uncharacterized LOC110091768 Neighboring gene ribosomal protein L15 pseudogene 22

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_075128.1 

    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    26777486..26777780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    27238395..27238689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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