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LOC121466701 Sharpr-MPRA regulatory region 7415 [ Homo sapiens (human) ]

Gene ID: 121466701, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121466701
Gene description
Sharpr-MPRA regulatory region 7415
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 unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, May 2021]
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Genomic context

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See LOC121466701 in Genome Data Viewer
Location:
12q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53701785..53702079)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53667538..53667832)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (54095569..54095863)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902938 Neighboring gene Sharpr-MPRA regulatory region 12722 Neighboring gene Sharpr-MPRA regulatory region 2395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6427 Neighboring gene ATP synthase membrane subunit c locus 2 Neighboring gene calcium binding and coiled-coil domain 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:54118812-54120011 Neighboring gene uncharacterized LOC105369774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54133003-54133792 Neighboring gene uncharacterized LOC105378250 Neighboring gene CALCOCO1-CISTR intergenic nontranscribed DNase I hypersensitive site-defined enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54141521-54142049 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54142050-54142577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54144138-54144726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4518 Neighboring gene chondrogenesis-associated transcript

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_074633.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    53701785..53702079
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    53667538..53667832
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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