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LOC112163649 Sharpr-MPRA regulatory region 10151 [ Homo sapiens (human) ]

Gene ID: 112163649, updated on 27-Aug-2024

Summary

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Gene symbol
LOC112163649
Gene description
Sharpr-MPRA regulatory region 10151
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). It also displayed weak activation by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, Mar 2018]
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Genomic context

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Location:
13q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (24221091..24221385)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (23428143..23428437)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (24795229..24795523)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene spermatogenesis associated 13 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:24715254-24716122 Neighboring gene Sharpr-MPRA regulatory region 6352 Neighboring gene importin 7 pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:24723586-24724262 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5176 Neighboring gene microRNA 2276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:24797397-24798253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:24799112-24799968 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:24822035-24822534 Neighboring gene conserved acetylation island sequence 9 enhancer Neighboring gene SPATA13 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5177 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:24855531-24856030 Neighboring gene C1q and TNF related 9 Neighboring gene PCOTH pseudogene 1

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_056626.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    24221091..24221385
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    23428143..23428437
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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