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LOC125177490 Sharpr-MPRA regulatory region 499 [ Homo sapiens (human) ]

Gene ID: 125177490, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125177490
Gene description
Sharpr-MPRA regulatory region 499
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 7:EnhWF, candidate poised/weak enhancer, flanking open chromatin of candidate enhancers). [provided by RefSeq, Apr 2022]
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Genomic context

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Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (45171882..45172176)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (46025775..46026069)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:43226945-43227500 Neighboring gene HEXIM2 antisense RNA 1 Neighboring gene HEXIM P-TEFb complex subunit 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43237877-43238492 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43238493-43239108 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43239109-43239724 Neighboring gene HEXIM P-TEFb complex subunit 2 Neighboring gene uncharacterized LOC105371795 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43247744-43248702 Neighboring gene Sharpr-MPRA regulatory region 8248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43249661-43250619 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:43250620-43251577 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12282 Neighboring gene FMNL1 divergent transcript Neighboring gene ReSE screen-validated silencer GRCh37_chr17:43279930-43280114 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:43281002-43281263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8613 Neighboring gene Sharpr-MPRA regulatory region 174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43300291-43300791 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12288 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43305824-43306459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12291 Neighboring gene formin like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8615 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:43318529-43319247 Neighboring gene FMNL1 antisense RNA 1

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

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_080545.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    45171882..45172176
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    46025775..46026069
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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