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LOC112529894 Sharpr-MPRA regulatory region 11916 [ Homo sapiens (human) ]

Gene ID: 112529894, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112529894
Gene description
Sharpr-MPRA regulatory region 11916
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 24:Quies, heterochromatin/dead zone) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 3:PromF, promoter flanking). [provided by RefSeq, May 2018]
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Genomic context

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Location:
17p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (10291572..10291866)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (10199448..10199742)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (10194889..10195183)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9828374-9829300 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:9862137-9862330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9884467-9884968 Neighboring gene growth arrest specific 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:9929866-9930370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:9929360-9929865 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9936551-9937052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9937053-9937552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11728 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9964299-9964800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9971697-9972196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10010547-10011088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8199 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10020585-10021114 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10021115-10021644 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10022175-10022702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10022877-10023835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10030567-10031284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11730 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10074967-10075792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10074140-10074966 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:10076620-10077445 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:10083873-10084415 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:10108420-10109619 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10113552-10114271 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:10114272-10114990 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8200 Neighboring gene uncharacterized LOC107985004 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:10195435-10196634 Neighboring gene Sharpr-MPRA regulatory region 3410 Neighboring gene RPS27A pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:10212735-10213249 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:10232009-10232227 Neighboring gene myosin heavy chain 13 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:10295275-10296474 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:10303826-10305025 Neighboring gene myosin heavy chain gene cluster antisense RNA Neighboring gene myosin heavy chain 8

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_056884.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    10291572..10291866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    10199448..10199742
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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