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LOC121725096 Sharpr-MPRA regulatory region 13618 [ Homo sapiens (human) ]

Gene ID: 121725096, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121725096
Gene description
Sharpr-MPRA regulatory region 13618
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 K562 erythroleukemia cells (group: K562 Activating DNase matched - State 18:Pol2, Pol2 specific locations, majority in genes but substantial portion in intergenic locations). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
2p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74221162..74221456)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74229912..74230206)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74448289..74448583)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MOB kinase activator 1A Neighboring gene ReSE screen-validated silencer GRCh37_chr2:74403666-74403858 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:74405031-74405714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16047 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74414816-74415489 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74415490-74416162 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:74419240-74419966 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74419967-74420694 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74425404-74425962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:74433385-74433964 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74455229-74455729 Neighboring gene solute carrier family 4 member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16049 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16051 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:74513902-74514036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74516904-74517404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:74517405-74517905 Neighboring gene keratin 18 pseudogene 26 Neighboring gene RNA, U6 small nuclear 542, pseudogene

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_075565.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    74221162..74221456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    74229912..74230206
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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