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LOC121815973 Sharpr-MPRA regulatory region 13916 [ Homo sapiens (human) ]

Gene ID: 121815973, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121815973
Gene description
Sharpr-MPRA regulatory region 13916
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 non-DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC121815973 in Genome Data Viewer
Location:
10q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (123133013..123133307)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (124008025..124008319)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124892529..124892823)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr10:124760713-124760899 Neighboring gene IKAROS family zinc finger 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4145 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:124776916-124777782 Neighboring gene Sharpr-MPRA regulatory region 2783 Neighboring gene acyl-CoA dehydrogenase short/branched chain Neighboring gene Sharpr-MPRA regulatory region 13327 Neighboring gene VISTA enhancer hs1319 Neighboring gene VISTA enhancer hs329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124878267-124878768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124878769-124879268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2895 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:124894701-124895651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124896834-124897798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124898839-124899608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124901370-124902306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124902307-124903243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2903 Neighboring gene Sharpr-MPRA regulatory region 2134 Neighboring gene H6 family homeobox 3 Neighboring gene H6 family homeobox 2

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_075867.1 

    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    123133013..123133307
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    124008025..124008319
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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Other Literature Sources
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