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LOC112997591 Sharpr-MPRA regulatory region 2050 [ Homo sapiens (human) ]

Gene ID: 112997591, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112997591
Gene description
Sharpr-MPRA regulatory region 2050
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 DNase matched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss). [provided by RefSeq, Aug 2018]
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Genomic context

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Location:
5p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (42993207..42993501)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (43245578..43245887)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (42993309..42993603)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:42950525-42951724 Neighboring gene uncharacterized LOC105374745 Neighboring gene PRELI domain containing 3B pseudogene 7 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:42980851-42981676 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:42981677-42982502 Neighboring gene uncharacterized LOC643977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22516 Neighboring gene uncharacterized LOC105374746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22517 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:43000051-43000552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:43000553-43001052 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:43007431-43008283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:43010287-43010787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22521 Neighboring gene ANXA2R overlapping transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:43018214-43018736 Neighboring gene uncharacterized LOC105374748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22523 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:43033815-43034354 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:43034355-43034892 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:43039303-43039843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:43042769-43043306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:43043307-43043842 Neighboring gene ANXA2R antisense RNA 1 Neighboring gene annexin A2 receptor

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_061590.1 

    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    42993207..42993501
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    43245578..43245887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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