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LOC112163654 Sharpr-MPRA regulatory region 3304 [ Homo sapiens (human) ]

Gene ID: 112163654, updated on 17-Sep-2024

Summary

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Gene symbol
LOC112163654
Gene description
Sharpr-MPRA regulatory region 3304
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 HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, Mar 2018]
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Genomic context

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See LOC112163654 in Genome Data Viewer
Location:
13q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (36324272..36324566)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (35543771..35544065)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (36898409..36898703)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene CCDC169-SOHLH2 readthrough Neighboring gene spermatogenesis and oogenesis specific basic helix-loop-helix 2 Neighboring gene MPRA-validated peak2068 silencer Neighboring gene coiled-coil domain containing 169 Neighboring gene Sharpr-MPRA regulatory region 14903 Neighboring gene RNA, U6 small nuclear 71, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:36871578-36872539 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36872540-36873502 Neighboring gene NANOG hESC enhancer GRCh37_chr13:36887598-36888362 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36890200-36891034 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:36891035-36891868 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:36894061-36894764 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36895467-36896169 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:36896170-36896871 Neighboring gene spartin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5263 Neighboring gene SPART antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:36962882-36963065 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5265 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5266 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:37011626-37012825 Neighboring gene cyclin A1

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_056631.1 

    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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    36324272..36324566
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    35543771..35544065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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