Gene: PAX6

LinkedOmicsKB © 2022-2023 Zhang Lab

Basic information

Full name
paired box 6
Ensembl
ENSG00000007372.23
Summary
This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peter's anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019]
Annotation
Transcription factor

Protein product

  • ENST00000643871.1 Primary ENSP00000495109.1 (2 phosphosites)
  • ENST00000379109.7
  • ENST00000640610.1
  • ENST00000639916.1
  • ENST00000379132.8
  • ENST00000241001.13
  • ENST00000638965.1
  • ENST00000638963.1
  • ENST00000640368.1
  • ENST00000638914.3
  • ENST00000606377.6
  • ENST00000419022.6
  • ENST00000379129.7
  • ENST00000379107.7
  • ENST00000640975.1
  • ENST00000639409.1
  • ENST00000640684.1
  • ENST00000639034.2
  • ENST00000638696.1
  • ENST00000638755.1
  • ENST00000638685.1
  • ENST00000639386.2
  • ENST00000638629.1
  • ENST00000481563.6
  • ENST00000639548.1
  • ENST00000640125.1
Phosphosites on the primary protein product

Tumor and normal comparison

Signed p-values
Data type Meta P BRCA CCRCC COAD GBM HNSCC LSCC LUAD OV PDAC UCEC

* P-values are from Wilcoxon rank sum test and can be clicked to show the box plots. Positive values mean higher abundance in tumor. BRCA and GBM do not have normal samples.

mRNA expression at gene level
Protein expression

* Mild outlier: filled circle; Extreme outlier: empty circle.

Phenotype and mutation association

Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types

* Data points of significant associations above and below the dotted lines can be hovered to show the phenotype.

Associations of the protein abundance of PAX6 with phenotypes and mutations

Signed p-values
Phenotype Meta P BRCA CCRCC COAD GBM HNSCC LSCC LUAD OV PDAC UCEC

* P-values could be from test for Spearman correlation, Wilcoxon rank sum test, Jonckheere-Terpstra trend test or Cox regression depending on the data type. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Cis-association

Associations between omics data of PAX6

* The numbers are Spearman correlation coefficients and can be clicked to show the scatter plots. The color and size of the circles correlate with the coefficients.

Trans-association

Associations of the protein abundance of PAX6 and the protein abundance of other genes

Signed p-values
Gene Meta P BRCA CCRCC COAD GBM HNSCC LSCC LUAD OV PDAC UCEC

* P-values are from test for Spearman correlation. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Gene set enrichment analysis

Submit genes and the common logarithm of the p-values of their association with to WebGestalt.