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LOC120893127 Sharpr-MPRA regulatory region 4114 [ Homo sapiens (human) ]

Gene ID: 120893127, updated on 10-Oct-2023

Summary

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Gene symbol
LOC120893127
Gene description
Sharpr-MPRA regulatory region 4114
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 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Mar 2021]
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Genomic context

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Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (30801782..30802076)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (30654089..30654383)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (31274629..31274923)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene lysosomal protein transmembrane 5 Neighboring gene uncharacterized LOC105378620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 625 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31223351-31223894 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31223895-31224436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31229428-31230224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 632 Neighboring gene Sharpr-MPRA regulatory region 12480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31246183-31246683 Neighboring gene uncharacterized LOC105378621 Neighboring gene CRISPRi-validated cis-regulatory element chr1.4289 Neighboring gene CRISPRi-validated cis-regulatory element chr1.4291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31260718-31261230 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:31277163-31277830 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:31277831-31278496 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:31282779-31283279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31291425-31291931 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31296724-31297226 Neighboring gene long intergenic non-protein coding RNA 1778 Neighboring gene RN7SK pseudogene 91

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_073886.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    30801782..30802076
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    30654089..30654383
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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