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LOC124310601 Sharpr-MPRA regulatory region 8876 [ Homo sapiens (human) ]

Gene ID: 124310601, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124310601
Gene description
Sharpr-MPRA regulatory region 8876
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 21:Repr, strong Polycomb repression). [provided by RefSeq, Feb 2022]
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Genomic context

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Location:
9q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (95666527..95666821)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (107837224..107837518)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (98428809..98429103)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98362911-98363412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98363413-98363912 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:98389397-98390596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98431260-98432176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98432177-98433092 Neighboring gene proteasome subunit alpha 7 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:98472872-98473055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98499106-98499628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98499629-98500151 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20074 Neighboring gene uncharacterized LOC105376161 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:98534876-98535833 Neighboring gene ERCC6L2 antisense RNA 1 Neighboring gene uncharacterized LOC107987103

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_078881.1 

    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    95666527..95666821
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    107837224..107837518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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