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LOC121331343 Sharpr-MPRA regulatory region 12797 [ Homo sapiens (human) ]

Gene ID: 121331343, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121331343
Gene description
Sharpr-MPRA regulatory region 12797
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 both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 19:H4K20, transcription, primarily H4K20me1, more intronic) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, May 2021]
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Genomic context

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See LOC121331343 in Genome Data Viewer
Location:
9q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (111636789..111637083)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (123808154..123808448)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (114399069..114399363)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 37 member A5, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:114379051-114379784 Neighboring gene uncharacterized LOC107987116 Neighboring gene DNAJC25-GNG10 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28795 Neighboring gene FOXA motif-containing MPRA enhancer 227 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105958 Neighboring gene DnaJ heat shock protein family (Hsp40) member C25 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28798 Neighboring gene Sharpr-MPRA regulatory region 3205 Neighboring gene G protein subunit gamma 10 Neighboring gene shortage in chiasmata 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_105998

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_074367.1 

    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
    111636789..111637083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    123808154..123808448
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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