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LOC121811717 Sharpr-MPRA regulatory region 12854 [ Homo sapiens (human) ]

Gene ID: 121811717, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121811717
Gene description
Sharpr-MPRA regulatory region 12854
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 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jul 2021]
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Genomic context

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Location:
9q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (112795509..112795803)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (124966738..124967044)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (115557789..115558083)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene INTS3 and NABP interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28828 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:115512887-115513808 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:115513809-115514728 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:115516859-115517473 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:115517474-115518087 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:115518123-115518802 Neighboring gene SNX30 divergent transcript Neighboring gene sorting nexin family member 30 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:115565661-115566288 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:115566289-115566914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:115572830-115573740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28830 Neighboring gene MPRA-validated peak7321 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20197 Neighboring gene NANOG hESC enhancer GRCh37_chr9:115608506-115609059 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:115609080-115609580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:115610366-115610938 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:115628995-115629496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28831 Neighboring gene solute carrier family 46 member 2 Neighboring gene major urinary protein, pseudogene

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_075820.1 

    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    112795509..112795803
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    124966738..124967044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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