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LOC108254685 PDXK-CSTB intergenic CAGE-defined low expression enhancer [ Homo sapiens (human) ]

Gene ID: 108254685, updated on 18-May-2021

Summary

Gene symbol
LOC108254685
Gene description
PDXK-CSTB intergenic CAGE-defined low expression enhancer
Gene type
biological region
Feature type(s)
misc_feature: CAGE_cluster
regulatory: enhancer, transcriptional_cis_regulatory_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic element is located in the intergenic region between the PDXK [pyridoxal (pyridoxine, vitamin B6) kinase] and CSTB (cystatin B) genes on chromosome 21. A subregion was defined as a low expression actively transcribed enhancer based on the presence of balanced bidirectional capped transcripts by cap analysis of gene expression (CAGE). It was validated as a functional enhancer by reporter assays in both HeLa and HepG2 cells. In addition, this genomic region was validated as a high-confidence cis-regulatory element for the CSTB gene based on multiplex CRISPR/Cas9-mediated perturbation in K562 cells. [provided by RefSeq, Nov 2019]
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Genomic context

See LOC108254685 in Genome Data Viewer
Location:
21q22.3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (43767823..43768871)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45187704..45188752)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene RRP1B-PDXK intergenic CAGE-defined mid-level expression enhancer Neighboring gene pyridoxal kinase Neighboring gene uncharacterized LOC105372824 Neighboring gene cystatin B upstream repeat instability region Neighboring gene cystatin B

Genomic regions, transcripts, and products

General gene information

Other Names

  • CRISPRi-validated cis-regulatory element chr21.1148
  • PDXK-CSTB interval low CAGE FANTOM5 enhancer

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_051032.2 

    Range
    101..1149
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    43767823..43768871
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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