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LOC121132687 Sharpr-MPRA regulatory region 4111 [ Homo sapiens (human) ]

Gene ID: 121132687, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121132687
Gene description
Sharpr-MPRA regulatory region 4111
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 K562 erythroleukemia cells (group: K562 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 LOC121132687 in Genome Data Viewer
Location:
6p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (47309873..47310167)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (47147031..47147325)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (47277609..47277903)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene adhesion G protein-coupled receptor F1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:47011981-47013180 Neighboring gene MPRA-validated peak5829 silencer Neighboring gene Sharpr-MPRA regulatory region 10363 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92032 Neighboring gene uncharacterized LOC105375081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24655 Neighboring gene MPRA-validated peak5831 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24657 Neighboring gene TNF receptor superfamily member 21 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:47252971-47254170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24658 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:47276592-47277314 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24659 Neighboring gene NANOG hESC enhancer GRCh37_chr6:47306925-47307426 Neighboring gene uncharacterized LOC105375082 Neighboring gene B3GNTL1 pseudogene 2

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_074229.1 

    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    47309873..47310167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    47147031..47147325
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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