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LOC112806047 Sharpr-MPRA regulatory region 12033 [ Homo sapiens (human) ]

Gene ID: 112806047, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112806047
Gene description
Sharpr-MPRA regulatory region 12033
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 4:PromP, inactive/poised promoter, highly conserved) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 4:PromP). [provided by RefSeq, Jul 2018]
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Genomic context

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Location:
2q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (129877436..129877730)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (130307063..130307357)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (130635009..130635303)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124907889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130501931-130502432 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130502433-130502932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:130505293-130505905 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:130515244-130515865 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:130515866-130516488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130539341-130540152 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130540153-130540964 Neighboring gene uncharacterized LOC107985945 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130616037-130616537 Neighboring gene long intergenic non-protein coding RNA 2572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130635324-130635880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130635881-130636436 Neighboring gene uncharacterized LOC105373616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130638314-130638814 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:130645385-130645622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130666529-130667049 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130671974-130672474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130672475-130672975 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130680057-130680872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:130680873-130681686 Neighboring gene long intergenic non-protein coding RNA 1856 Neighboring gene placenta associated 9 pseudogene 1

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_060903.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    129877436..129877730
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791762.1 Reference GRCh38.p14 PATCHES

    Range
    49678..49972
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    130307063..130307357
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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