Basic information

Full name
CLN8 transmembrane ER and ERGIC protein
Ensembl
ENSG00000182372.10
Summary
This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]

Protein product

  • ENST00000331222.6 Primary ENSP00000328182.4 (0 phosphosite)
  • ENST00000637083.1
  • ENST00000637156.1
  • ENST00000635751.1
  • ENST00000519254.2
  • ENST00000636934.1
  • ENST00000520991.3
Phosphosites on the primary protein product
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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-1.3e-62--1.4e-18---1.5e-14-2.3e-16-5.5e-17--2.0e-5-
protein1.5e-3-1.5e-4--0.140.890.33---

* 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
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC6.577.588.599.51010.51111.512log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC151617181920212223log2(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

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC0123456780-1-2-3-4-5-6-7-8Pan-cancer02468101214161820220-2-4-6-8-10-12-14-16-18-20-22proteinRNASCNVclinicalpathwaycell 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 CLN8 with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
HALLMARK_EPITHELIAL_MESENCHYMAL_TRANSITION1.6e-40.70.075--0.0540.0290.0010.56-0.0490.015
ESTIMATE: StromalScore2.7e-4-0.870.1--0.310.0848.5e-40.83-0.0130.036
HALLMARK_ANGIOGENESIS9.3e-40.380.12--0.0886.1e-32.9e-30.7-0.330.12
HALLMARK_COAGULATION1.2e-3-0.443.5e-3--0.280.0616.9e-4-0.68-0.370.02
HALLMARK_UV_RESPONSE_DN2.2e-30.130.62--0.130.11.1e-3-0.74-0.329.4e-3
PROGENy: TGFb2.3e-30.160.51--0.0820.471.1e-40.77-0.0320.2
PERT-PSP_UV0.011----0.011-----
PATH-NP_TSLP_PATHWAY0.0130.943.4e-3--0.116.2e-30.930.1-0.420.72
HALLMARK_TNFA_SIGNALING_VIA_NFKB0.0160.910.11--0.110.0140.0260.79-0.990.078
xcell: Macrophage M20.021-0.180.011--0.460.350.014-1-0.0940.55
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 CLN8

BRCA0.260.390.52proteinmRNASCNVmethylationCCRCC0.45-0.200.12-0.130.25-0.16proteinmRNASCNVmethylationCOAD0.55proteinmRNASCNVmethylationGBM0.63-0.150.11-0.090.100.23proteinmRNASCNVmethylationHNSCC0.38-0.060.230.020.660.04proteinmRNASCNVmethylationLSCC0.49-0.210.38-0.390.66-0.29proteinmRNASCNVmethylationLUAD0.28-0.330.22-0.320.72-0.33proteinmRNASCNVmethylationOV0.64proteinmRNASCNVmethylationPDAC-0.04-0.21-0.120.430.15proteinmRNASCNVmethylationUCEC0.04-0.14-0.25-0.110.470.03proteinmRNASCNVmethylation

* 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 CLN8 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.