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LOC121740717 Sharpr-MPRA regulatory region 7649 [ Homo sapiens (human) ]

Gene ID: 121740717, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121740717
Gene description
Sharpr-MPRA regulatory region 7649
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 unmatched - State 14:Gen5', transcription transition, highly expressed genes towards 5' end). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
8q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (47826568..47826862)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (48202817..48203111)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (48739129..48739423)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene scaffold protein involved in DNA repair Neighboring gene RNA, U6 small nuclear 665, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:48649750-48650688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19174 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:48664855-48665355 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27329 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:48678117-48678684 Neighboring gene CCAAT enhancer binding protein delta Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:48734487-48735248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:48737843-48738343 Neighboring gene protein kinase, DNA-activated, catalytic subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:48770411-48770910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27330 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:48836071-48836571 Neighboring gene uncharacterized LOC105375818 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:48867403-48867904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19177 Neighboring gene origin of replication upstream of MCM4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19179 Neighboring gene minichromosome maintenance complex component 4

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_075779.1 

    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    47826568..47826862
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    48202817..48203111
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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