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LOC122056812 Sharpr-MPRA regulatory region 8314 [ Homo sapiens (human) ]

Gene ID: 122056812, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122056812
Gene description
Sharpr-MPRA regulatory region 8314
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 14:Gen5', transcription transition, highly expressed genes towards 5' end). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC122056812 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (27405205..27405499)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (27246529..27246823)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27731709..27732003)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27717742-27718278 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27718279-27718815 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 515 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27719353-27719888 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27720717-27721514 Neighboring gene CD164 molecule like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27725651-27726603 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 548 Neighboring gene G protein-coupled receptor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 549 Neighboring gene WASP family member 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27756559-27757532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 552 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27816920-27817464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27817465-27818009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27830147-27830734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27830735-27831320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27831321-27831907 Neighboring gene uncharacterized LOC105376892 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27849319-27849901 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27851813-27852451 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27855359-27856073 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27864051-27864652 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27869009-27869527 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27869528-27870045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27881926-27882481 Neighboring gene AT-hook DNA binding motif containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 556 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27889385-27890112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27907956-27908485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27918399-27918972 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27919547-27920120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27920121-27920694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27922307-27922832 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27922833-27923358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27924447-27925402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27925403-27926360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27926361-27927316 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27928027-27928623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 524

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_076268.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    27405205..27405499
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    27246529..27246823
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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