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LOC121725026 Sharpr-MPRA regulatory region 4934 [ Homo sapiens (human) ]

Gene ID: 121725026, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121725026
Gene description
Sharpr-MPRA regulatory region 4934
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 2:TssF, active promoter, flanking TSS/CpG islands). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (62689498..62689792)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (62567689..62567983)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (63155169..63155463)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene dedicator of cytokinesis 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:63088457-63088957 Neighboring gene angiopoietin like 3 Neighboring gene ribosomal protein L13a pseudogene 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:63135613-63136174 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:63140571-63141202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 946 Neighboring gene DOCK7 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:63220743-63221288 Neighboring gene uncharacterized LOC124904194 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:63221289-63221835 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:63221836-63222381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1121 Neighboring gene Sharpr-MPRA regulatory region 3967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1123 Neighboring gene autophagy related 4C cysteine peptidase

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_075496.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    62689498..62689792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    62567689..62567983
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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