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LOC112694728 Sharpr-MPRA regulatory region 2003 [ Homo sapiens (human) ]

Gene ID: 112694728, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112694728
Gene description
Sharpr-MPRA regulatory region 2003
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 DNase matched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC112694728 in Genome Data Viewer
Location:
20q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (63978796..63979090)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (65798558..65798852)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62610149..62610443)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62573671-62574384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62574385-62575096 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62580108-62580646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62580647-62581185 Neighboring gene uridine-cytidine kinase 1 like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62581186-62581724 Neighboring gene microRNA 647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62587955-62588842 Neighboring gene UCKL1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62588843-62589728 Neighboring gene zinc finger protein 512B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62599635-62600172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62600173-62600708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62610429-62610944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13198 Neighboring gene sterile alpha motif domain containing 10 Neighboring gene pre-mRNA processing factor 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62631004-62631506 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:62636447-62636619 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:62642795-62643994 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:62648052-62649251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62667815-62668408 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62668409-62669002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13201 Neighboring gene chromosome 20 open reading frame 204

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_060757.1 

    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    63978796..63979090
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    65798558..65798852
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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