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LOC121392947 Sharpr-MPRA regulatory region 6199 [ Homo sapiens (human) ]

Gene ID: 121392947, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121392947
Gene description
Sharpr-MPRA regulatory region 6199
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 15:Elon, transcription elongation, stronger H3K36me3, more exonic) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, May 2021]
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Genomic context

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Location:
11q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (119676719..119677013)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (119699591..119699885)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (119547429..119547723)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:119507935-119508436 Neighboring gene uncharacterized LOC124900303 Neighboring gene nectin cell adhesion molecule 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:119520624-119521191 Neighboring gene RNA, U6 small nuclear 1123, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119535306-119535844 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119535845-119536381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:119560233-119560733 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119562395-119563120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119563121-119563847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:119564585-119565134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:119565135-119565682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:119566971-119567596 Neighboring gene NECTIN1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:119584957-119585597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:119588639-119589412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:119594703-119595203 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:119597492-119598434 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr11:119599234-119600095 and GRCh37_chr11:119600096-119600956 Neighboring gene NECTIN1 divergent transcript

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_074604.1 

    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    119676719..119677013
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    119699591..119699885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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