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LOC108228202 PEC7 enhancer downstream of PAX1 [ Homo sapiens (human) ]

Gene ID: 108228202, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108228202
Gene description
PEC7 enhancer downstream of PAX1
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
Also known as
PEC7
Summary
This region represents a conserved enhancer element located approximately 275 kb downstream of the paired box 1 (PAX1) gene. This sequence drives expression of a transgene in the somite of developing embryos. A naturally-occurring polymorphism (rs169311) in this region affects enhancer activity and is associated with susceptibility to idiopathic scoliosis. [provided by RefSeq, Sep 2016]
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Genomic context

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Location:
chromosome: 20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (21981205..21982804)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (22038250..22039848)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (21961843..21963442)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 6 pseudogene 1 Neighboring gene ribosomal protein L41 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:21789824-21790630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:21790631-21791436 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:21917369-21917960 Neighboring gene Xe1 enhancer downstream of PAX1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:21982513-21983712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:21989996-21990496 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:22026257-22026923 Neighboring gene long intergenic non-protein coding RNA 1432 Neighboring gene uncharacterized LOC105372560

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. A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females. Sharma S, et al. Nat Commun, 2015 Mar 18. PMID 25784220, 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)

General gene information

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Other Names

  • PAX1 candidate enhancer (PEC) 7

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_050973.1 

    Range
    101..1700
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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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    21981205..21982804
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    22038250..22039848
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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