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LOC121587594 Sharpr-MPRA regulatory region 5434 [ Homo sapiens (human) ]

Gene ID: 121587594, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121587594
Gene description
Sharpr-MPRA regulatory region 5434
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 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jun 2021]
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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 (43878581..43878875)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44731161..44731455)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41955949..41956243)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984979 Neighboring gene uncharacterized LOC107985077 Neighboring gene CD300 molecule like family member g Neighboring gene ReSE screen-validated silencer GRCh37_chr17:41943686-41943858 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41959115-41959616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41959617-41960116 Neighboring gene MAGUK p55 scaffold protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41991041-41991541 Neighboring gene uncharacterized LOC105371787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41994398-41995219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41995220-41996040 Neighboring gene uncharacterized LOC107985086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41997678-41998178 Neighboring gene family with sequence similarity 215 member A

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 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_074979.1 

    Range
    101..395
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    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
    43878581..43878875
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    44731161..44731455
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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