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LOC113788264 Sharpr-MPRA regulatory region 1162 [ Homo sapiens (human) ]

Gene ID: 113788264, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113788264
Gene description
Sharpr-MPRA regulatory region 1162
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 10:DNaseD, primarily Duke DNase, candidate regulatory elements in more likely repressive locations) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Dec 2018]
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Genomic context

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Location:
8q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (142198108..142198402)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (143337943..143338237)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (143279469..143279763)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375792 Neighboring gene microRNA 4472-1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:143283162-143283882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:143284603-143285322 Neighboring gene long intergenic non-protein coding RNA 51 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:143300684-143301572 Neighboring gene t-SNARE domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:143341408-143341908 Neighboring gene RNA, 7SL, cytoplasmic 260, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:143375399-143375900 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28058 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28059 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:143419370-143420072 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:143424933-143425449 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:143425450-143425965 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:143436639-143437406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:143441158-143441658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:143458238-143458812 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:143457662-143458237 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:143477973-143478474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19594 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:143484673-143485448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:143491197-143491875 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:143497207-143498198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:143498199-143499188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:143508526-143509300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:143515169-143515669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:143534525-143535456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:143535457-143536388 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:143545037-143545542 Neighboring gene uncharacterized LOC124902075 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:143550893-143551634 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:143551635-143552376 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:143553119-143553858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19599 Neighboring gene adhesion G protein-coupled receptor B1

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_062557.1 

    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    142198108..142198402
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    143337943..143338237
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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