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LOC121847977 Sharpr-MPRA regulatory region 13449 [ Homo sapiens (human) ]

Gene ID: 121847977, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121847977
Gene description
Sharpr-MPRA regulatory region 13449
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 unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC121847977 in Genome Data Viewer
Location:
16p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (29848548..29848842)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (30131183..30131477)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (29859869..29860163)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7339 Neighboring gene MVP divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29826183-29826812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7340 Neighboring gene proline rich transmembrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29832188-29832754 Neighboring gene PAXIP1 associated glutamate rich protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10683 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29836905-29837477 Neighboring gene major vault protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29856975-29857476 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29857477-29857976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:29871974-29872512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7341 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:29874668-29875205 Neighboring gene CDP-diacylglycerol--inositol 3-phosphatidyltransferase Neighboring gene CDIP transferase opposite strand, pseudogene

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_076003.1 

    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    29848548..29848842
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    30131183..30131477
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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