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LOC112533668 Sharpr-MPRA regulatory region 12431 [ Homo sapiens (human) ]

Gene ID: 112533668, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112533668
Gene description
Sharpr-MPRA regulatory region 12431
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 21:Repr, strong Polycomb repression) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, May 2018]
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Genomic context

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Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (74931454..74931748)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (75823241..75823535)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (72927549..72927843)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:72870273-72871173 Neighboring gene CRISPRi-validated cis-regulatory element chr17.4853 Neighboring gene Sharpr-MPRA regulatory region 12632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72875167-72875668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72875669-72876168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72878575-72879105 Neighboring gene fatty acid desaturase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12722 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72920304-72920487 Neighboring gene USH1 protein network component sans Neighboring gene otopetrin 2 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:72939523-72940722 Neighboring gene otopetrin 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72946212-72947170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12723 Neighboring gene Sharpr-MPRA regulatory region 11423 Neighboring gene HID1 domain containing Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:72959394-72959894 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:72960959-72961117 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8947 Neighboring gene HID1 antisense RNA 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_057341.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    74931454..74931748
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    75823241..75823535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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