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LOC121852947 Sharpr-MPRA regulatory region 4989 [ Homo sapiens (human) ]

Gene ID: 121852947, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121852947
Gene description
Sharpr-MPRA regulatory region 4989
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 matched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC121852947 in Genome Data Viewer
Location:
17q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (67954373..67954667)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (68829586..68829880)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (65950489..65950783)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7199 Neighboring gene ribosomal protein SA pseudogene 67 Neighboring gene ribosomal protein L17 pseudogene 41 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65820867-65821564 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:65821565-65822260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12632 Neighboring gene NANOG hESC enhancer GRCh37_chr17:65827101-65827602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12633 Neighboring gene bromodomain PHD finger transcription factor Neighboring gene RNA, 7SL, cytoplasmic 622, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8881 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8883 Neighboring gene chromosome 17 open reading frame 58

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_076054.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    67954373..67954667
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    68829586..68829880
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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