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LOC111828528 Sharpr-MPRA regulatory regions 12575 and 14060 [ Homo sapiens (human) ]

Gene ID: 111828528, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111828528
Gene description
Sharpr-MPRA regulatory regions 12575 and 14060
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. Two overlapping subregions were validated as functional enhancers by Sharpr-MPRA (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 10:DNaseD, primarily Duke DNase, candidate regulatory elements in more likely repressive locations) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
6p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (42028551..42028885)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (41856795..41857129)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (41996289..41996623)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:41884515-41885714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41892998-41893498 Neighboring gene mediator complex subunit 20 Neighboring gene bystin like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41906017-41906832 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41906833-41907648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24531 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41908777-41909728 Neighboring gene cyclin D3 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:41928638-41928835 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:41932711-41933221 Neighboring gene uncharacterized LOC105375059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41976875-41977831 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:41977832-41978787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:41984389-41984890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24535 Neighboring gene RNA, U6 small nuclear 761, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24534 Neighboring gene skeletal muscle cis-regulatory module in CCND3 intron Neighboring gene ReSE screen-validated silencer GRCh37_chr6:42007359-42007580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42011196-42011696 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24537 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:42013050-42013640 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:42013641-42014230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17197 Neighboring gene H3K27ac hESC enhancers GRCh37_chr6:42017885-42018436 and GRCh37_chr6:42018437-42018988 Neighboring gene TATA-box binding protein associated factor 8 Neighboring gene Sharpr-MPRA regulatory region 7068 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:42067953-42068174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17200 Neighboring gene chromosome 6 open reading frame 132 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42104000-42104697 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42108933-42109612

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
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 24536
  • Sharpr-MPRA regulatory region 12575
  • Sharpr-MPRA regulatory region 14060

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_056252.1 

    Range
    101..435
    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    42028551..42028885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    41856795..41857129
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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