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LOC124375247 Sharpr-MPRA regulatory region 12102 [ Homo sapiens (human) ]

Gene ID: 124375247, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124375247
Gene description
Sharpr-MPRA regulatory region 12102
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 DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [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 (136796977..136797271)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149029858..149030152)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139691429..139691723)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATPase H+ transporting V1 subunit G1 pseudogene 3 Neighboring gene CRISPRi-validated cis-regulatory element chr9.4332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20540 Neighboring gene transmembrane protein 141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139690211-139690712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139693993-139694696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20542 Neighboring gene coiled-coil domain containing 183 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139695381-139695908 Neighboring gene CCDC183 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:139701344-139701939 and GRCh37_chr9:139701940-139702536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20547 Neighboring gene iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene Neighboring gene RAB, member RAS oncogene family like 6

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_078968.1 

    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
    136796977..136797271
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    149029858..149030152
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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