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LOC121852926 Sharpr-MPRA regulatory region 5861 [ Homo sapiens (human) ]

Gene ID: 121852926, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121852926
Gene description
Sharpr-MPRA regulatory region 5861
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 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC121852926 in Genome Data Viewer
Location:
17p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (20053656..20053950)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (20002368..20002662)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (19956969..19957263)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene A-kinase anchoring protein 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19881511-19882224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19890363-19891159 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:19896026-19896559 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:19898031-19898532 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:19898533-19899032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:19911474-19912041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8304 Neighboring gene SPECC1 divergent transcript Neighboring gene sperm antigen with calponin homology and coiled-coil domains 1 Neighboring gene uncharacterized LOC100131943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11865 Neighboring gene Sharpr-MPRA regulatory region 535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11868 Neighboring gene Sharpr-MPRA regulatory region 1687 Neighboring gene potassium channel tetramerization domain containing 9 pseudogene 1

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_076033.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    20053656..20053950
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    20002368..20002662
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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