Basic information

Full name
EGF containing fibulin extracellular matrix protein 1
Ensembl
ENSG00000115380.20
Summary
This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
Annotation
Ligand

Protein product

  • ENST00000355426.8 Primary ENSP00000347596.3 (0 phosphosite)
  • ENST00000394555.6
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-9.7e-44--0.014---2.9e-5-9.8e-27-2.6e-32--0.068-
protein-0.12-4.3e-43.5e-9-0.065-4.8e-19-3.7e-16-1.5e-47.9e-14-0.021

* 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
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC5678910111213141516log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC2424.52525.52626.52727.52828.52929.530log2(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

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC051015202530350-5-10-15-20-25-30-35Pan-cancer01020304050607080901001100-10-20-30-40-50-60-70-80-90-100-110proteinRNASCNVclinicalpathwaycell 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 EFEMP1 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: TGFb2.3e-793.5e-92.6e-92.3e-59.7e-57.6e-92.2e-163.6e-52.2e-162.9e-72.2e-16
HALLMARK_UV_RESPONSE_DN8.3e-726.8e-102.1e-60.0017e-82.2e-162.2e-162.3e-51.1e-80.0122.2e-16
HALLMARK_MYOGENESIS3.4e-692.2e-164.3e-72.9e-52.1e-64.1e-44.4e-96.1e-71.7e-82.4e-72.2e-16
HALLMARK_EPITHELIAL_MESENCHYMAL_TRANSITION1.7e-689e-103.8e-83.4e-42e-104.1e-71.6e-110.0462.2e-164.3e-42.2e-16
ESTIMATE: StromalScore3.3e-602.3e-89.0e-62.7e-43.1e-71.6e-58e-100.0282.2e-169.5e-52.2e-16
xcell: stroma score2.4e-562.1e-102.2e-48.5e-50.0469.0e-41e-73.2e-51.3e-82e-132.2e-16
HALLMARK_APICAL_JUNCTION6.5e-538.5e-102.8e-73.9e-31.1e-64.7e-57.9e-80.0451.7e-84.6e-52.2e-16
xcell: Cancer associated fibroblast7.7e-514.1e-91.1e-92.0e-4-0.89.1e-53e-82.9e-52.8e-71.1e-111.3e-10
HALLMARK_TGF_BETA_SIGNALING1.2e-462.7e-92.4e-41.1e-56.6e-60.0197.7e-102.4e-67.3e-107.9e-44.1e-5
xcell: Hematopoietic stem cell5.9e-319e-103.1e-30.0260.582.9e-42.1e-42.5e-62.3e-60.148.3e-11
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 EFEMP1

BRCA0.67-0.07-0.00proteinmRNASCNVmethylationCCRCC0.500.06-0.01-0.090.08-0.08proteinmRNASCNVmethylationCOAD0.520.12-0.15proteinmRNASCNVmethylationGBM0.760.110.010.11-0.040.05proteinmRNASCNVmethylationHNSCC0.500.120.150.30-0.25-0.24proteinmRNASCNVmethylationLSCC0.580.060.040.17-0.19-0.29proteinmRNASCNVmethylationLUAD0.530.14-0.02-0.010.050.19proteinmRNASCNVmethylationOV0.69-0.030.03proteinmRNASCNVmethylationPDAC0.470.090.08-0.080.110.04proteinmRNASCNVmethylationUCEC0.74-0.25-0.13-0.17-0.150.03proteinmRNASCNVmethylation

* 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 EFEMP1 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.