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LOC112840912 Sharpr-MPRA regulatory region 6211 [ Homo sapiens (human) ]

Gene ID: 112840912, updated on 17-Sep-2024

Summary

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Gene symbol
LOC112840912
Gene description
Sharpr-MPRA regulatory region 6211
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, transcriptional elongation, stronger H3K36me3, more exonic) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Jul 2018]
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Genomic context

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See LOC112840912 in Genome Data Viewer
Location:
2q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (236001525..236001819)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (236491273..236491567)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (236910169..236910463)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 Neighboring gene uncharacterized LOC105373942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236696882-236697382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236701667-236702167 Neighboring gene Sharpr-MPRA regulatory region 1374 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:236735809-236737008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236757968-236758468 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:236763280-236764479 Neighboring gene VISTA enhancer hs521 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236784736-236785236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236785237-236785737 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236801538-236802038 Neighboring gene NANOG hESC enhancer GRCh37_chr2:236812532-236813067 Neighboring gene NANOG hESC enhancer GRCh37_chr2:236813068-236813602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236814296-236814796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236814797-236815297 Neighboring gene thymosin beta 10 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236842540-236843040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236843041-236843541 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236859019-236859518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236863470-236863970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236881395-236881894 Neighboring gene uncharacterized LOC124907999 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236908700-236909590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236921919-236922882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236934624-236935124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236936185-236936684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236943445-236944014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236950015-236950927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236950928-236951839 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:236953845-236954624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:236954625-236955404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236955459-236955962 Neighboring gene VISTA enhancer hs921 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:236970128-236970759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:236970760-236971390 Neighboring gene RNA, U7 small nuclear 127 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:236979819-236980320 Neighboring gene RNA, 7SL, cytoplasmic 204, pseudogene

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 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_060947.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    236001525..236001819
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    236491273..236491567
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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