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LOC112533649 Sharpr-MPRA regulatory region 13843 [ Homo sapiens (human) ]

Gene ID: 112533649, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112533649
Gene description
Sharpr-MPRA regulatory region 13843
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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 enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50161488..50161782)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51028553..51028847)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48238849..48239143)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene pyruvate dehydrogenase kinase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48189161-48189846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48189847-48190532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48191458-48192053 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48193223-48193766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8680 Neighboring gene sterile alpha motif domain containing 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48209774-48210516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48210517-48211258 Neighboring gene protein phosphatase 1 regulatory subunit 9B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48223652-48224322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48224323-48224991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12379 Neighboring gene uncharacterized LOC124904025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8683 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8685 Neighboring gene Sharpr-MPRA regulatory region 5931 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8686 Neighboring gene CRISPRi-validated cis-regulatory element chr17.3603 Neighboring gene uncharacterized LOC105371818 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8687 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48240960-48241460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48252214-48252815 Neighboring gene Sharpr-MPRA regulatory region 9980 Neighboring gene sarcoglycan alpha Neighboring gene Sharpr-MPRA regulatory region 10059 Neighboring gene H1.9 linker histone, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48259283-48260178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48261754-48262744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48266067-48266622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48266623-48267176 Neighboring gene collagen type I alpha 1 chain Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8691

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
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid silent region 8688

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_056920.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    50161488..50161782
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    51028553..51028847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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