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LOC121175365 Sharpr-MPRA regulatory region 2205 [ Homo sapiens (human) ]

Gene ID: 121175365, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121175365
Gene description
Sharpr-MPRA regulatory region 2205
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 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Apr 2021]
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Genomic context

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See LOC121175365 in Genome Data Viewer
Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (128936255..128936549)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (130249182..130249475)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (128576309..128576603)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:128531177-128531767 Neighboring gene uncharacterized LOC105375497 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:128532717-128533916 Neighboring gene kielin cysteine rich BMP regulator Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128543906-128544411 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128544412-128544916 Neighboring gene filamin C pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128569307-128569807 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26609 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:128578271-128578854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26613 Neighboring gene interferon regulatory factor 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26615 Neighboring gene transportin 3 Neighboring gene RNA, 7SL, cytoplasmic 306, 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_074297.1 

    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
    128936255..128936549
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    130249182..130249475
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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