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LOC112997546 Sharpr-MPRA regulatory region 11108 [ Homo sapiens (human) ]

Gene ID: 112997546, updated on 17-Sep-2024

Summary

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Gene symbol
LOC112997546
Gene description
Sharpr-MPRA regulatory region 11108
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 HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, Aug 2018]
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Genomic context

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See LOC112997546 in Genome Data Viewer
Location:
4q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (87317577..87317871)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (90646617..90646911)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (88238729..88239023)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene kelch like family member 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:88140772-88141384 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15557 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 60 Neighboring gene Sharpr-MPRA regulatory region 2168 Neighboring gene microRNA 5705 Neighboring gene hydroxysteroid 17-beta dehydrogenase 13 Neighboring gene hydroxysteroid 17-beta dehydrogenase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21706 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:88312635-88313207 Neighboring gene RNA, 7SL, cytoplasmic 681, pseudogene Neighboring gene mitochondrial ribosomal protein L19 pseudogene

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_061539.1 

    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    87317577..87317871
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    90646617..90646911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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