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LOC121529657 Sharpr-MPRA regulatory region 6741 [ Homo sapiens (human) ]

Gene ID: 121529657, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121529657
Gene description
Sharpr-MPRA regulatory region 6741
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 non-DNase unmatched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, May 2021]
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Genomic context

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Location:
14q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (95523792..95524086)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (89754485..89754779)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (95990129..95990423)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370640 Neighboring gene spectrin repeat containing nuclear envelope family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8958 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:95904894-95906093 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:95917656-95918448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8959 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:95941052-95941938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:95941939-95942824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:95961573-95962074 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr14:95966308-95966888 and GRCh37_chr14:95966889-95967468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8962 Neighboring gene Sharpr-MPRA regulatory region 11978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8963 Neighboring gene SYNE3 antisense RNA 1 Neighboring gene CRISPRi-validated cis-regulatory element chr14.2067 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:95999817-96000606 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:96000607-96001396 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6049 Neighboring gene small Cajal body-specific RNA 13 Neighboring gene small nucleolar RNA host gene 10 Neighboring gene glutaredoxin 5

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_074769.1 

    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    95523792..95524086
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    89754485..89754779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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