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LOC112469008 Sharpr-MPRA regulatory region 83 [ Homo sapiens (human) ]

Gene ID: 112469008, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112469008
Gene description
Sharpr-MPRA regulatory region 83
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 unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 1:Tss). [provided by RefSeq, May 2018]
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Genomic context

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See LOC112469008 in Genome Data Viewer
Location:
16q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (57462537..57462831)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (63257714..63258008)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (57496449..57496743)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene cytokine induced apoptosis inhibitor 1 Neighboring gene Sharpr-MPRA regulatory region 5957 Neighboring gene coenzyme Q9 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57506902-57507423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57507424-57507944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57508610-57509398 Neighboring gene RNA polymerase II subunit C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57519658-57520454 Neighboring gene docking protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57541954-57542946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57543642-57544142 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43689 Neighboring gene coiled-coil domain containing 102A Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:57562855-57563355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10897 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57566372-57566931 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57566932-57567490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7531 Neighboring gene adhesion G protein-coupled receptor G5

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_056835.1 

    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    57462537..57462831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    63257714..63258008
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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