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LOC121725056 Sharpr-MPRA regulatory region 10037 [ Homo sapiens (human) ]

Gene ID: 121725056, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121725056
Gene description
Sharpr-MPRA regulatory region 10037
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 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
1q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (152035073..152035367)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (151158618..151158912)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (152007549..152007843)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene S100 calcium binding protein A10 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:151964375-151965574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1334 Neighboring gene Sharpr-MPRA regulatory region 9275 Neighboring gene uncharacterized LOC105371442 Neighboring gene NBPF member 18, pseudogene Neighboring gene Sharpr-MPRA regulatory region 201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1728 Neighboring gene S100 calcium binding protein A11 Neighboring gene uncharacterized LOC101927949 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:152019998-152021197 Neighboring gene S100A11-TCHHL1 intergenic CAGE-defined high expression enhancer Neighboring gene NANOG hESC enhancer GRCh37_chr1:152025018-152025574 Neighboring gene serine palmitoyltransferase long chain base subunit 1 pseudogene 4

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_075526.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    152035073..152035367
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    151158618..151158912
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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