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LOC108254694 PAX7 promoter region [ Homo sapiens (human) ]

Gene ID: 108254694, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108254694
Gene description
PAX7 promoter region
Gene type
biological region
Feature type(s)
regulatory: promoter
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region contains the core functional promoter of the paired box 7 (PAX7) gene. [provided by RefSeq, Jul 2016]
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Genomic context

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Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (18630530..18631629)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (18450592..18451691)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (18957024..18958123)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18807375-18808246 Neighboring gene kelch domain containing 7A Neighboring gene dynein light chain LC8-type 1 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18877005-18877829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18879379-18879880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18879881-18880380 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18883865-18884372 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18884373-18884880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18898371-18898870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18901646-18902224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18902225-18902802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18925717-18926246 Neighboring gene PAX7 intron homotypic clusters of transcription factor binding sites enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18962444-18963061 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18963062-18963678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18963679-18964296 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:18967445-18967966 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:18976025-18976654 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:18978097-18978886 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:18979869-18980025 Neighboring gene Sharpr-MPRA regulatory region 1855 Neighboring gene paired box 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19018361-19018860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19064331-19064838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19064839-19065345 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19066201-19066702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19119189-19119690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19119691-19120190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19144000-19144500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19146197-19146706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19146707-19147216 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:19147395-19147573 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:19176158-19176291 Neighboring gene taste 1 receptor member 2 Neighboring gene Sharpr-MPRA regulatory region 7483 Neighboring gene aldehyde dehydrogenase 4 family member A1 Neighboring gene microRNA 4695

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. Cloning and characterization of the human PAX7 promoter. Murmann OV, et al. Biol Chem, 2000 Apr. PMID 10839462
  2. Structural and functional characterization of the human PAX7 5'-flanking regulatory region. Syagailo YV, et al. Gene, 2002 Jul 10. PMID 12234688
  3. Comparison of the proximal promoter regions of the PAX3 and PAX7 genes. Möller E, et al. Cancer Genet Cytogenet, 2007 Oct 15. PMID 17954266

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_051041.1 

    Range
    101..1200
    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
    18630530..18631629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    18450592..18451691
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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