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LOC112590800 Sharpr-MPRA regulatory region 45 [ Homo sapiens (human) ]

Gene ID: 112590800, updated on 10-Dec-2024

Summary

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Gene symbol
LOC112590800
Gene description
Sharpr-MPRA regulatory region 45
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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. A subregion was validated as a functional enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region), with weak activation in HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 1:Tss). This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC112590800 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (45491101..45491451)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (45362685..45363035)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45956773..45957123)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:45826137-45826636 Neighboring gene testis associated actin remodelling kinase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45856236-45856736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 969 Neighboring gene peptidylprolyl isomerase A pseudogene 36 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:45909108-45909337 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 970 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45965685-45966217 Neighboring gene CCDC163 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 972 Neighboring gene metabolism of cobalamin associated C Neighboring gene peroxiredoxin 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid silent region 830

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_060590.2 

    Range
    101..451
    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
    45491101..45491451
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    45362685..45363035
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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