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LOC123864079 Sharpr-MPRA regulatory region 8938 [ Homo sapiens (human) ]

Gene ID: 123864079, updated on 12-Sep-2024

Summary

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Gene symbol
LOC123864079
Gene description
Sharpr-MPRA regulatory region 8938
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 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Jan 2022]
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Genomic context

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See LOC123864079 in Genome Data Viewer
Location:
6q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (137513352..137513646)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (138701797..138702091)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (137834489..137834783)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723633 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:137744471-137745316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:137808523-137809198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:137814441-137814940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:137816622-137817155 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:137817156-137817688 Neighboring gene oligodendrocyte transcription factor 3 Neighboring gene basic transcription factor 3 like 4 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25141 Neighboring gene Sharpr-MPRA regulatory region 13388 Neighboring gene OLIG3-TNFAIP3 interval homotypic cluster of transcription factor binding sites enhancer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25143 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17585 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90442 Neighboring gene NANOG hESC enhancer GRCh37_chr6:137974082-137974598 Neighboring gene uncharacterized LOC105378018 Neighboring gene long intergenic non-protein coding RNA 3004

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_078211.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    137513352..137513646
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    138701797..138702091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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