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LOC113748396 Sharpr-MPRA regulatory region 1133 [ Homo sapiens (human) ]

Gene ID: 113748396, updated on 17-Sep-2024

Summary

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Gene symbol
LOC113748396
Gene description
Sharpr-MPRA regulatory region 1133
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 18:Pol2, Pol2 specific locations, majority in genes but substantial portion in intergenic locations) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 14:Gen5', transcription transition, highly expressed genes towards 5' end). [provided by RefSeq, Dec 2018]
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Genomic context

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See LOC113748396 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 (5607578..5607872)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (5725108..5725402)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (5647209..5647503)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene S100 calcium binding protein A11 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5601490-5602016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5602017-5602541 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5602542-5603067 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:5609174-5610162 Neighboring gene CRISPRi-validated cis-regulatory element chr7.769 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5626381-5626880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17926 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:5633617-5634192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17928 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:5634770-5635345 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:5636965-5637180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5642390-5643243 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5643244-5644096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5648079-5648632 Neighboring gene fascin actin-bundling protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5655393-5656132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5666829-5667500 Neighboring gene VISTA enhancer hs1623 Neighboring gene ring finger protein 216 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:5678992-5679856 Neighboring gene RNF216 intronic transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25605 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25608 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25609 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5735716-5736216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:5736217-5736717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25610 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:5741581-5742780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25611 Neighboring gene microRNA 6874

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_062507.1 

    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
    5607578..5607872
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    5725108..5725402
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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