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LOC113687202 Sharpr-MPRA regulatory region 13780 [ Homo sapiens (human) ]

Gene ID: 113687202, updated on 10-Oct-2023

Summary

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Gene symbol
LOC113687202
Gene description
Sharpr-MPRA regulatory region 13780
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 4:PromP, inactive/poised promoter, highly conserved) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Dec 2018]
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Genomic context

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See LOC113687202 in Genome Data Viewer
Location:
7p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (149169..149463)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (249827..250126)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (149169..149463)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375113 Neighboring gene uncharacterized LOC101929756 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:81530-82302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:82303-83073 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:84367-85090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:85091-85814 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:86539-87262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:89543-90191 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:96283-97052 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:97053-97823 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:108674-109390 Neighboring gene uncharacterized LOC105375114 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:119835-120053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:133814-134316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:134317-134819 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:139089-139857 Neighboring gene long intergenic non-protein coding RNA 3015 Neighboring gene long intergenic non-protein coding RNA 3014 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:159391-160174 Neighboring gene TRIO and F-actin-binding protein-like Neighboring gene uncharacterized LOC105375115

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_062482.1 

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

    Range
    149169..149463
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021159998.1 Reference GRCh38.p14 PATCHES

    Range
    124857..125151
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187558.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    104969..105268
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187653.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    141490..141784
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    249827..250126
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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