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LOC121967081 Sharpr-MPRA regulatory region 10571 [ Homo sapiens (human) ]

Gene ID: 121967081, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121967081
Gene description
Sharpr-MPRA regulatory region 10571
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 K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 14:Gen5', transcription transition, highly expressed genes towards 5' end). [provided by RefSeq, Jul 2021]
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Genomic context

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Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (12405556..12405850)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (11949702..11949996)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (12465609..12465903)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900427 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12289836-12290766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12309525-12310516 Neighboring gene vacuolar protein sorting 13 homolog D Neighboring gene ATAC-STARR-seq lymphoblastoid active region 212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 213 Neighboring gene uncharacterized LOC124903845 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:12418393-12418894 Neighboring gene uncharacterized LOC124904680 Neighboring gene NFE2L2 motif-containing MPRA enhancer 265 Neighboring gene Sharpr-MPRA regulatory region 15009 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12537802-12538659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12538660-12539516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12541249-12541767 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:12557015-12557515 Neighboring gene small nucleolar RNA, H/ACA box 59A

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_076221.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    12405556..12405850
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    11949702..11949996
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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