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LOC122149318 Sharpr-MPRA regulatory region 5219 [ Homo sapiens (human) ]

Gene ID: 122149318, updated on 12-Sep-2024

Summary

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Gene symbol
LOC122149318
Gene description
Sharpr-MPRA regulatory region 5219
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 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC122149318 in Genome Data Viewer
Location:
1q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (181160353..181160647)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (180515784..180516078)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (181129489..181129783)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2173 Neighboring gene Sharpr-MPRA regulatory region 8031 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:181065969-181066485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1605 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:181074489-181075383 Neighboring gene immediate early response 5 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:181080957-181082156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2175 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2179 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:181103703-181104902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2181 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr1:181110258-181110758 and GRCh37_chr1:181110759-181111259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1608 Neighboring gene VISTA enhancer hs1862 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1610 Neighboring gene long intergenic non-protein coding RNA 1732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:181151125-181151624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:181176185-181177094 Neighboring gene long intergenic non-protein coding RNA 1699

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_076510.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    181160353..181160647
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    180515784..180516078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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