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LOC121627901 Sharpr-MPRA regulatory region 10548 [ Homo sapiens (human) ]

Gene ID: 121627901, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121627901
Gene description
Sharpr-MPRA regulatory region 10548
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 HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
20p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (25508093..25508387)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (25573132..25573426)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (25488729..25489023)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene abhydrolase domain containing 12, lysophospholipase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12752 Neighboring gene uncharacterized LOC105372581 Neighboring gene peptidylprolyl isomerase A pseudogene 2 Neighboring gene MPRA-validated peak4176 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17669 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:25388698-25389455 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25418017-25418688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25418689-25419360 Neighboring gene GINS complex subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25457461-25457961 Neighboring gene ninein like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25483989-25484500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25506669-25507224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25507225-25507779 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25513199-25514199 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25529495-25530318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25541385-25541914 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:25545021-25545520 Neighboring gene Sharpr-MPRA regulatory region 10614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12753 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:25582716-25583915 Neighboring gene RNA, U6atac small nuclear 17, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:25603923-25604598 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17671 Neighboring gene N-acetylneuraminic acid phosphatase

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_075092.1 

    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    25508093..25508387
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    25573132..25573426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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