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LOC121847967 Sharpr-MPRA regulatory region 13654 [ Homo sapiens (human) ]

Gene ID: 121847967, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121847967
Gene description
Sharpr-MPRA regulatory region 13654
Gene type
biological region
Feature type(s)
regulatory: enhancer
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. The major subregion was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in naive human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. Another subregion was validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase matched - State 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
16p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1048085..1048803)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1059766..1060484)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1098509..1098803)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene lipase maturation factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1038856-1039356 Neighboring gene cytoplasmic endogenous regulator of oxidative phosphorylation 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1051902-1052558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10216 Neighboring gene SRY-box transcription factor 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1059983-1060602 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:1064356-1064557 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1074897-1075411 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1075412-1075925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1087280-1087789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1097469-1098084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6963 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1113181-1113680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1119782-1120538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1121507-1122248 Neighboring gene SSTR5 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1128485-1129149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1132931-1133783 Neighboring gene somatostatin receptor 5 Neighboring gene C1q and TNF related 8

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. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1098085-1098699

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_075993.2 

    Range
    101..819
    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    1048085..1048803
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    1059766..1060484
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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