Basic information

Full name
iron-sulfur cluster assembly enzyme
Ensembl
ENSG00000136003.15
Summary
This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016]
Annotation
Essential genes

Protein product

Phosphosites on the primary protein product
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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 ISCU 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 ISCU

* 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 ISCU 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.