Property Summary

NCBI Gene PubMed Count 16
PubMed Score 15.45
PubTator Score 12.96

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count
Dupuytren Contracture 5
Disease Target Count P-value
group 4 medulloblastoma 1875 2.36507985199349E-11
oligodendroglioma 2849 7.79733045393173E-10
cystic fibrosis 1670 1.61599406590476E-8
non-small cell lung cancer 2798 6.30428893876396E-7
psoriasis 6685 1.17391616728731E-6
pituitary cancer 1972 1.27189407343932E-6
atypical teratoid / rhabdoid tumor 4369 8.94327513751512E-5
primitive neuroectodermal tumor 3031 1.35684444358226E-4
medulloblastoma, large-cell 6234 1.44253529581889E-4
head and neck cancer 270 2.01033992540649E-4
primary pancreatic ductal adenocarcinoma 1271 2.8275707866633E-4
pancreatic cancer 2300 0.00122040574048803
Pick disease 1893 0.00305307250210936
ductal carcinoma in situ 1745 0.00377954816648079
breast carcinoma 1614 0.00432247997690131
Breast cancer 3099 0.00984878164402426
invasive ductal carcinoma 2950 0.0143444609730555
ovarian cancer 8492 0.0222591587512621
gastric carcinoma 832 0.0279742298039059
astrocytic glioma 2241 0.0294086013614137
fibroadenoma 557 0.0330253103034168
ependymoma 2514 0.0346650228519844
Disease Target Count Z-score Confidence
Connective tissue disease 59 0.0 2.0
Disease Target Count Z-score Confidence
Primary angle-closure glaucoma 11 3.153 1.6

Expression

  Differential Expression (22)

Disease log2 FC p
astrocytic glioma -1.300 0.029
ependymoma -1.500 0.035
oligodendroglioma -1.100 0.000
group 4 medulloblastoma -3.300 0.000
cystic fibrosis -4.318 0.000
atypical teratoid / rhabdoid tumor -1.800 0.000
medulloblastoma, large-cell -2.500 0.000
primitive neuroectodermal tumor -1.800 0.000
primary pancreatic ductal adenocarcinoma 1.965 0.000
non-small cell lung cancer -1.182 0.000
breast carcinoma -1.200 0.004
fibroadenoma -1.600 0.033
invasive ductal carcinoma -1.800 0.014
psoriasis -1.100 0.000
Pick disease -1.600 0.003
Breast cancer -1.600 0.010
gastric carcinoma 1.300 0.028
ductal carcinoma in situ -1.500 0.004
ovarian cancer 1.300 0.022
pituitary cancer 1.800 0.000
pancreatic cancer 1.500 0.001
head and neck cancer -2.000 0.000

Synonym

Accession Q9UM22 A8K4C0 C9JYS3 Q06BL0 Q99M77 MERP-1
Symbols EPDR
UCC1
MERP1
MERP-1

Gene

  Ortholog (5)

Species Source
Mouse OMA Inparanoid
Rat OMA Inparanoid
Cow OMA Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid

 GWAS Trait (1)

 CSPA Cell Line (2)

Pathway (1)

Gene RIF (4)

PMID Text
24089297 Results of this study suggest that EPDR1 gene can be added to a growing list of genes associated with Dupuytren's disease development.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
18374504 Observational study of gene-disease association. (HuGE Navigator)
16954209 Shows that the mouse ortholog is a lysosomal protein.

AA Sequence

MPGRAPLRTVPGALGAWLLGGLWAWTLCGLCSLGAVGAPRPCQAPQQWEGRQVMYQQSSGRNSRALLSYD      1 - 70
GLNQRVRVLDERKALIPCKRLFEYILLYKDGVMFQIDQATKQCSKMTLTQPWDPLDIPQNSTFEDQYSIG     71 - 140
GPQEQITVQEWSDRKSARSYETWIGIYTVKDCYPVQETFTINYSVILSTRFFDIQLGIKDPSVFTPPSTC    141 - 210
QMAQLEKMSEDCSW                                                            211 - 224
//

Text Mined References (21)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24089297 2013 Common variants of the EPDR1 gene and the risk of Dupuytren’s disease.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
21732829 2011 Wnt signaling and Dupuytren's disease.
20556588 2010 Effects of combined siRNA-TR and -TERT on telomerase activity and growth of bladder transitional cell cancer BIU-87 cells.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
18374504 2008 Influence of multiple genetic polymorphisms on genitourinary morbidity after carbon ion radiotherapy for prostate cancer.
17302986 2007 Molecular evolution of the ependymin protein family: a necessary update.
16954209 2006 Demonstration of lysosomal localization for the mammalian ependymin-related protein using classical approaches combined with a novel density shift method.
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