Gene: SGCE

LinkedOmicsKB © 2022-2023 Zhang Lab

Basic information

Full name
sarcoglycan epsilon
Ensembl
ENSG00000127990.19
Summary
This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]
Annotation
Druggable target (Tier T5)

Protein product

  • ENST00000648936.2 Primary ENSP00000497130.1 (1 phosphosite)
  • ENST00000646489.1
  • ENST00000644375.1
  • ENST00000415788.3
  • ENST00000644551.1
  • ENST00000643272.1
  • ENST00000445866.7
  • ENST00000644816.1
  • ENST00000643193.1
  • ENST00000645725.1
  • ENST00000645109.1
  • ENST00000647018.1
  • ENST00000647096.1
  • ENST00000642933.1
  • ENST00000644609.1
  • ENST00000646137.1
  • ENST00000428696.7
  • ENST00000646098.1
  • ENST00000447873.6
  • ENST00000646879.1
  • ENST00000643128.1
  • ENST00000645262.1
  • ENST00000643903.1
  • ENST00000645101.1
  • ENST00000437425.7
  • ENST00000642394.1
  • ENST00000644681.1
  • ENST00000645535.1
  • ENST00000642707.1
  • ENST00000647351.1
  • ENST00000646943.1
  • ENST00000644122.1
  • ENST00000642441.1
  • ENST00000644116.1
Phosphosites on the primary protein product

Tumor and normal comparison

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Signed p-values
Data type
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
RNA-8.1e-28-1.0e-4---1.9e-3-6.9e-25-3.3e-25--5.3e-6-
protein-8.9e-54--7.4e-4-5.5e-25--7.1e-11-4.1e-25-2.4e-21-6.3e-5-1.7e-6

* 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
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC67891011121314log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCCOADGBMHNSCCLSCCLUADPDACUCEC17181920212223242526log2(MS1 intensity)tumornormal

* 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

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC0246810121416182022240-2-4-6-8-10-12-14-16-18-20-22-24Pan-cancer05101520253035404550550-5-10-15-20-25-30-35-40-45-50-55proteinRNASCNVclinicalpathwaycell typegenomicmutation-log10 of P-value

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

Associations of the protein abundance of SGCE with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
PROGENy: TGFb4.9e-562.2e-164.5e-42.1e-70.66.9e-82.2e-165.6e-6-5.3e-103.3e-8
ESTIMATE: StromalScore4.8e-522.2e-161.4e-33.1e-80.572.5e-63.9e-101.1e-5-2.2e-167.9e-6
xcell: Cancer associated fibroblast4.9e-508.1e-62.0e-55.3e-140.013.3e-32.8e-101.2e-7-1.3e-92.1e-7
HALLMARK_EPITHELIAL_MESENCHYMAL_TRANSITION2.3e-422.2e-164.9e-43.7e-6-0.15.5e-52.2e-165.2e-4-6.9e-101.4e-5
xcell: stroma score2.1e-414.8e-81.5e-32.2e-16-0.131.4e-35e-97.6e-7-1.1e-94.9e-7
HALLMARK_MYOGENESIS2.7e-417.5e-117.4e-49.4e-9-0.836.5e-31e-103.8e-6-1.2e-74.3e-9
HALLMARK_UV_RESPONSE_DN1.8e-357.1e-102.4e-31.7e-5-0.621.7e-62.2e-166.2e-4-8.9e-45.6e-6
HALLMARK_APICAL_JUNCTION2.5e-285.1e-100.0120.006-0.22.6e-45.6e-91.7e-5-5.7e-64.5e-6
xcell: Hematopoietic stem cell2.9e-202.3e-90.033.9e-7-0.540.0099.5e-40.014-0.0788.6e-7
HALLMARK_TGF_BETA_SIGNALING7.9e-193.7e-70.0122.0e-4-0.790.0952.7e-100.075-4.1e-30.004
Showing 1 to 10 of 256 rows

* 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 SGCE

BRCA0.450.060.22proteinmRNASCNVmethylationCCRCC0.190.060.23-0.070.15-0.09proteinmRNASCNVmethylationCOAD0.620.01-0.05proteinmRNASCNVmethylationGBM0.55-0.21-0.12-0.290.11-0.05proteinmRNASCNVmethylationHNSCC0.390.05-0.09-0.230.030.01proteinmRNASCNVmethylationLSCC0.470.02-0.00-0.090.06-0.13proteinmRNASCNVmethylationLUAD0.39-0.020.14-0.180.40-0.23proteinmRNASCNVmethylationOV0.21proteinmRNASCNVmethylationPDAC0.370.170.02-0.030.080.11proteinmRNASCNVmethylationUCEC0.61-0.06-0.00-0.130.04-0.13proteinmRNASCNVmethylation

* 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 SGCE and the protein abundance of other genes

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Signed p-values
Gene
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
No matching records found

* 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.