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LOC112340388 Sharpr-MPRA regulatory region 3130 [ Homo sapiens (human) ]

Gene ID: 112340388, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112340388
Gene description
Sharpr-MPRA regulatory region 3130
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 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Apr 2018]
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Genomic context

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Location:
16p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2388848..2389142)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2411233..2411527)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2438849..2439143)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene microRNA 4717 Neighboring gene ATP binding cassette subfamily A member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7042 Neighboring gene ribosomal protein S16 pseudogene 7 Neighboring gene ATP binding cassette subfamily A member 17, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2450358-2451105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2472691-2473456 Neighboring gene conserved acetylation island sequence C01 enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2478509-2479088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7045 Neighboring gene cyclin F Neighboring gene uncharacterized LOC105371050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2508584-2509398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10267 Neighboring gene microRNA 6767

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_056787.1 

    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    2388848..2389142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    2411233..2411527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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