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LOC112272548 Sharpr-MPRA regulatory region 9441 [ Homo sapiens (human) ]

Gene ID: 112272548, updated on 17-Sep-2024

Summary

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Gene symbol
LOC112272548
Gene description
Sharpr-MPRA regulatory region 9441
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 12:CtcfO, distal CTCF/candidate insulator with open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 12:CtcfO). [provided by RefSeq, Mar 2018]
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Genomic context

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See LOC112272548 in Genome Data Viewer
Location:
14q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (64430051..64430345)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (58637798..58638092)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (64896769..64897063)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8525 Neighboring gene estrogen receptor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8526 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:64805694-64806376 Neighboring gene testis expressed 21, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8531 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:64858021-64858754 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:64858755-64859488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:64859797-64860574 Neighboring gene methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5834 Neighboring gene zinc finger and BTB domain containing 25 Neighboring gene A-kinase anchoring protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8534 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8535 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:64970928-64971598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5837 Neighboring gene HSPA2 and ZBTB1 antisense RNA 1 Neighboring gene zinc finger and BTB domain containing 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_056686.1 

    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    64430051..64430345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    58637798..58638092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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