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LOC121725005 Sharpr-MPRA regulatory region 11281 [ Homo sapiens (human) ]

Gene ID: 121725005, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121725005
Gene description
Sharpr-MPRA regulatory region 11281
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 K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121725005 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (24683738..24684032)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (24522170..24522464)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (25010229..25010523)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:24894097-24894598 Neighboring gene NANOG hESC enhancer GRCh37_chr1:24895749-24896251 Neighboring gene ribosomal protein L26 pseudogene 8 Neighboring gene non-compact myelin associated protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 434 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 435 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:24981406-24981591 Neighboring gene small nucleolar RNA U13 Neighboring gene serine and arginine repetitive matrix 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 436 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:25041190-25042389 Neighboring gene Sharpr-MPRA regulatory region 6401 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:25050611-25051418 Neighboring gene Sharpr-MPRA regulatory region 445 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25056667-25057257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:25069429-25070034 Neighboring gene hESC enhancers GRCh37_chr1:25071247-25071852 and GRCh37_chr1:25071853-25072458 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 439 Neighboring gene chloride intracellular channel 4 Neighboring gene RNA, U6 small nuclear 1208, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:25173940-25174664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 441 Neighboring gene uncharacterized LOC105376876

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_075475.1 

    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
    24683738..24684032
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    24522170..24522464
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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