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LOC112694749 Sharpr-MPRA regulatory region 172 [ Homo sapiens (human) ]

Gene ID: 112694749, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112694749
Gene description
Sharpr-MPRA regulatory region 172
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 HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Jul 2018]
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Genomic context

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Location:
21q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (41768669..41768963)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (40159056..40159350)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (43188829..43189123)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43154537-43155036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43160656-43161352 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43173001-43173792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43180486-43181120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43181121-43181755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43181756-43182390 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr21:43182391-43183024 Neighboring gene receptor interacting serine/threonine kinase 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43183726-43184325 Neighboring gene microRNA 6814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43184326-43184924 Neighboring gene uncharacterized LOC102724800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43192149-43192696 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:43216480-43216980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18485 Neighboring gene PR/SET domain 15 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:43241376-43242575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:43256373-43257080 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:43274198-43275397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13333 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43318691-43319691 Neighboring gene C2 calcium dependent domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:43364315-43364815 Neighboring gene small nucleolar RNA, H/ACA box 91

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_060776.1 

    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_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    41768669..41768963
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    40159056..40159350
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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