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LOC122128434 Sharpr-MPRA regulatory region 5559 [ Homo sapiens (human) ]

Gene ID: 122128434, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122128434
Gene description
Sharpr-MPRA regulatory region 5559
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 DNase matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jul 2021]
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Genomic context

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Location:
1q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (154546433..154546727)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (153683560..153683854)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (154518909..154519203)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154390689-154391202 Neighboring gene interleukin 6 receptor Neighboring gene proteasome 26S subunit, non-ATPase, 8 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154399170-154399670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154399671-154400171 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154404493-154405326 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154405327-154406158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154406159-154406992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154417761-154418260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154437441-154437942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154461067-154461569 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:154461570-154462071 Neighboring gene Src homology 2 domain containing E Neighboring gene tudor domain containing 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1779 Neighboring gene UBE2Q1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1359 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154530992-154531573 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:154531574-154532154 Neighboring gene ubiquitin conjugating enzyme E2 Q1 Neighboring gene uncharacterized LOC107985206

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_076454.1 

    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
    154546433..154546727
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    153683560..153683854
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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