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LOC114004401 Sharpr-MPRA regulatory region 10363 [ Homo sapiens (human) ]

Gene ID: 114004401, updated on 10-Oct-2023

Summary

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Gene symbol
LOC114004401
Gene description
Sharpr-MPRA regulatory region 10363
Gene type
biological region
Feature type(s)
regulatory: silencer
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 repressive element 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 Repressive non-DNase unmatched - State 20:ReprD, Polycomb repression with Duke DNase/promoter and conservation enriched). [provided by RefSeq, Jan 2019]
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Genomic context

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Location:
6p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (47094493..47094787)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (46931974..46932268)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (47062229..47062523)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901489 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:46952137-46952638 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 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 Sharpr-MPRA regulatory region 4111

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_063901.1 

    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
    47094493..47094787
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    46931974..46932268
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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