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LOC111946240 Sharpr-MPRA regulatory region 4601 [ Homo sapiens (human) ]

Gene ID: 111946240, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111946240
Gene description
Sharpr-MPRA regulatory region 4601
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 non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Feb 2018]
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Genomic context

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See LOC111946240 in Genome Data Viewer
Location:
10q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (48476526..48476820)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (49325599..49325893)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (49684569..49684863)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2355 Neighboring gene ribosomal protein S6 pseudogene 14 Neighboring gene mitogen-activated protein kinase 8 Neighboring gene Sharpr-MPRA regulatory region 12210 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:49607374-49608116 Neighboring gene Sharpr-MPRA regulatory region 2186 Neighboring gene Sharpr-MPRA regulatory region 5880 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:49653211-49654112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:49662087-49663064 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49668057-49668559 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49671373-49672306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49672307-49673238 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:49674919-49675115 Neighboring gene Rho GTPase activating protein 22 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:49678026-49678908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49686951-49687608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49687609-49688265 Neighboring gene Sharpr-MPRA regulatory region 14185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49716013-49716998 Neighboring gene ARHGAP22 intronic transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49725473-49726106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49727221-49727810 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49727811-49728398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2356 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:49741600-49742140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49750999-49751784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49763487-49763987 Neighboring gene NANOG hESC enhancer GRCh37_chr10:49782573-49783074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3331 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:49802653-49803477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49807300-49807800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49812539-49813269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3336 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:49887725-49887989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3337 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49893168-49893708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:49953319-49953863 Neighboring gene WDFY family member 4 Neighboring gene ribosomal protein L13a pseudogene 19

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_056329.1 

    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    48476526..48476820
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    49325599..49325893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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