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LOC121466720 Sharpr-MPRA regulatory region 12439 [ Homo sapiens (human) ]

Gene ID: 121466720, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121466720
Gene description
Sharpr-MPRA regulatory region 12439
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 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, May 2021]
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Genomic context

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Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (120204866..120205160)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (120192041..120192335)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (120642669..120642963)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene GCN1 activator of EIF2AK4 Neighboring gene microRNA 4498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7132 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:120622010-120623209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120635999-120636498 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:120636618-120637559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7134 Neighboring gene ribosomal protein lateral stalk subunit P0 Neighboring gene PXN antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120653807-120654533 Neighboring gene uncharacterized LOC124903034 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4943 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:120662858-120663539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7135 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:120664223-120664903 Neighboring gene paxillin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4944 Neighboring gene hESC enhancers GRCh37_chr12:120667255-120667814 and GRCh37_chr12:120667815-120668374 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:120668816-120670015 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:120670055-120670614 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:120671735-120672294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:120676424-120677054 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:120682649-120683475 Neighboring gene ribosomal protein S20 pseudogene 31

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_074653.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    120204866..120205160
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    120192041..120192335
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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