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LOC113748390 Sharpr-MPRA regulatory region 6412 [ Homo sapiens (human) ]

Gene ID: 113748390, updated on 17-Sep-2024

Summary

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Gene symbol
LOC113748390
Gene description
Sharpr-MPRA regulatory region 6412
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 15:Elon, transcriptional elongation, stronger H3K36me3, more exonic) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 14:Gen5', transcription initiation, highly expressed genes towards 5' end). [provided by RefSeq, Dec 2018]
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Genomic context

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See LOC113748390 in Genome Data Viewer
Location:
7p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (39688830..39689124)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (39846394..39846688)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (39728429..39728723)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene YAE1 maturation factor of ABCE1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18111 Neighboring gene uncharacterized LOC107986785 Neighboring gene akirin 1 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:39663047-39663894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25879 Neighboring gene RAS like proto-oncogene A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25880 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:39761893-39762394 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:39762968-39763530 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:39763531-39764091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25882 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:39772987-39774186 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:39774391-39775162 Neighboring gene long intergenic non-protein coding RNA 265 Neighboring gene NANOG hESC enhancer GRCh37_chr7:39789308-39790145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:39793752-39794419 Neighboring gene RNA, U6 small nuclear 719, pseudogene Neighboring gene capicua transcriptional repressor pseudogene 22

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. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
  2. 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_062501.1 

    Range
    101..395
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    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    39688830..39689124
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    39846394..39846688
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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