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LOC121530612 Sharpr-MPRA regulatory region 8596 [ Homo sapiens (human) ]

Gene ID: 121530612, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121530612
Gene description
Sharpr-MPRA regulatory region 8596
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. It was validated as a functional enhancer 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 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121530612 in Genome Data Viewer
Location:
16p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (3005968..3006262)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (3032652..3032946)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (3055969..3056263)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene progestin and adipoQ receptor family member 4 Neighboring gene protein kinase, membrane associated tyrosine/threonine 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3029137-3030013 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3030014-3030889 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3030890-3031766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3032811-3033312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7098 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:3033737-3033923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3037455-3038406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3038407-3039356 Neighboring gene glycine rich extracellular protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3043721-3044222 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3045542-3046514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3048182-3048682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3048683-3049183 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3051481-3052017 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:3053764-3054722 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3057599-3058558 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3058559-3059516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:3061783-3062608 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:3064184-3064351 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:3065208-3065772 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:3066992-3067588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:3067589-3068185 Neighboring gene claudin 9 Neighboring gene claudin 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_074811.1 

    Range
    101..395
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    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
    3005968..3006262
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    3032652..3032946
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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