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LOC121832842 Sharpr-MPRA regulatory region 12312 [ Homo sapiens (human) ]

Gene ID: 121832842, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121832842
Gene description
Sharpr-MPRA regulatory region 12312
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, Jul 2021]
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Genomic context

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See LOC121832842 in Genome Data Viewer
Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (69243789..69244083)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (69222873..69223167)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (69637569..69637863)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene carboxypeptidase M Neighboring gene PRELI domain containing 2 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:69401223-69401916 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:69417938-69419137 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:69420279-69420508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:69436381-69436882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:69436883-69437382 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:69447351-69447948 Neighboring gene transcript overexpressed in dedifferentiated liposarcoma Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:69461643-69462842 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:69509413-69510201 Neighboring gene MPRA-validated peak1782 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:69633505-69634085 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:69634086-69634665 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:69639551-69640050 Neighboring gene MPRA-validated peak1783 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6648 Neighboring gene cleavage and polyadenylation specific factor 6 Neighboring gene C1GALT1 pseudogene 1 Neighboring gene microRNA 1279

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_075917.1 

    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
    69243789..69244083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    69222873..69223167
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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