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LOC121627981 Sharpr-MPRA regulatory region 13107 [ Homo sapiens (human) ]

Gene ID: 121627981, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121627981
Gene description
Sharpr-MPRA regulatory region 13107
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 non-DNase unmatched - State 24:Quies, heterochromatin/dead zone) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121627981 in Genome Data Viewer
Location:
Xq
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (131816841..131817135)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (130141061..130141355)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (130950869..130951163)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene firre intergenic repeating RNA element Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:130937096-130937596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:130937597-130938097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29965 Neighboring gene MAPK regulated corepressor interacting protein 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29967 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:130960090-130960590 Neighboring gene PNKD pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:131057048-131058247 Neighboring gene RNA, 5S ribosomal pseudogene 514 Neighboring gene Sharpr-MPRA regulatory region 3545 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:131156878-131157424 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:131157425-131157972 Neighboring gene serine/threonine kinase 26

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_075461.1 

    Range
    101..395
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    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    131816841..131817135
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    130141061..130141355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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