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LOC120893168 Sharpr-MPRA regulatory region 8886 [ Homo sapiens (human) ]

Gene ID: 120893168, updated on 12-Sep-2024

Summary

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Gene symbol
LOC120893168
Gene description
Sharpr-MPRA regulatory region 8886
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 unmatched - State 25:Art, potential CNV or repetitive artifacts). [provided by RefSeq, Mar 2021]
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Genomic context

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See LOC120893168 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 (173431270..173431564)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (172789425..172789719)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (173400409..173400703)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene TNF superfamily member 4 Neighboring gene uncharacterized LOC100506023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2103 Neighboring gene ribosomal protein L26 pseudogene 11 Neighboring gene centrosomal protein 57kDa pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2111 Neighboring gene PRDX6 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2112 Neighboring gene Sharpr-MPRA regulatory region 679 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:173429231-173429730 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:173445479-173446015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2113 Neighboring gene uncharacterized LOC124904456 Neighboring gene MPRA-validated peak459 silencer Neighboring gene Sharpr-MPRA regulatory region 4744 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:173473949-173475148 Neighboring gene peroxiredoxin 6 Neighboring gene solute carrier family 9 member C2 (putative)

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_073927.1 

    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
    173431270..173431564
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    172789425..172789719
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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