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LOC121848006 Sharpr-MPRA regulatory region 11291 [ Homo sapiens (human) ]

Gene ID: 121848006, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121848006
Gene description
Sharpr-MPRA regulatory region 11291
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
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 10:DNaseD, primarily Duke DNase, candidate regulatory elements in more likely repressive locations). This region also displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 16:ElonW, transcriptional elongation, weaker H3K36me3). [provided by RefSeq, Jul 2021]
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Genomic context

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Location:
17p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (3880015..3880309)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (3768640..3768934)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (3783309..3783603)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3716184-3716689 Neighboring gene nuclear cap binding subunit 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:3735506-3735685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8021 Neighboring gene uncharacterized LOC124903897 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3771089-3771590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3771591-3772090 Neighboring gene calcium/calmodulin dependent protein kinase kinase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3791367-3791886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3791887-3792408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8023 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3807108-3807786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11523 Neighboring gene purinergic receptor P2X 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11528 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:3831158-3832357 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3833185-3834129 Neighboring gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3844399-3844898 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3856267-3857115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3860613-3861517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8027

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_076026.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    3880015..3880309
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    3768640..3768934
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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