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LOC125177444 Sharpr-MPRA regulatory region 2481 [ Homo sapiens (human) ]

Gene ID: 125177444, updated on 12-Sep-2024

Summary

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Gene symbol
LOC125177444
Gene description
Sharpr-MPRA regulatory region 2481
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, Apr 2022]
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Genomic context

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See LOC125177444 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 (28908731..28909025)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29851514..29851808)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27235749..27236043)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene flotillin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11955 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27223968-27224468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8359 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:27228996-27229188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27232864-27233364 Neighboring gene dehydrogenase/reductase 13 Neighboring gene PHD finger protein 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11957 Neighboring gene uncharacterized LOC101927018 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27275797-27276417 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27276418-27277037 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8362 Neighboring gene uncharacterized LOC105371716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11959 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27279039-27279660 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27285966-27286466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27286467-27286967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11961 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27295422-27296072 Neighboring gene seizure related 6 homolog Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27298966-27299843 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27304487-27305060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11962 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27312673-27313313 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27314841-27315342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27318844-27319528 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27319529-27320212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27325005-27325504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27330212-27330838 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:27330839-27331463 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:27332814-27332997

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_080499.1 

    Range
    101..395
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    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
    28908731..28909025
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    29851514..29851808
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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