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LOC124416833 Sharpr-MPRA regulatory region 4371 [ Homo sapiens (human) ]

Gene ID: 124416833, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124416833
Gene description
Sharpr-MPRA regulatory region 4371
Gene type
biological region
Feature type(s)
regulatory: silencer
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 repressive element 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 Repressive non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Feb 2022]
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Genomic context

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Location:
10q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (70671093..70671387)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (71540752..71541049)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (72430849..72431143)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2450 Neighboring gene phosphatase domain containing paladin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72253375-72254035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72258695-72259456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72259457-72260216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72273197-72273732 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72273733-72274267 Neighboring gene YY1 transcription factor pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 14353 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:72288493-72289410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72297349-72298033 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72298034-72298719 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72301641-72302141 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72318935-72319878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72319879-72320822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72344798-72345298 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:72345790-72345956 Neighboring gene Sharpr-MPRA regulatory region 12376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72356137-72356637 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:72385043-72385632 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72391517-72392148 Neighboring gene perforin 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:72396829-72397014 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_17237 Neighboring gene Sharpr-MPRA regulatory region 11165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3511 Neighboring gene CRISPRi-validated cis-regulatory element chr10.2252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72442365-72443210 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:72447939-72448583 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72453261-72453762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72453763-72454262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72461609-72462110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72462111-72462610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72465820-72466320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72497279-72497778 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_17283 Neighboring gene Sharpr-MPRA regulatory region 12298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72502823-72503626 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_17317 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72516391-72517350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:72521542-72522311 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:72536007-72536834 Neighboring gene thymus, brain and testes associated

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_079054.1 

    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
    70671093..70671387
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    71540752..71541049
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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