EuRBPDB

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  • Basic Information
  • Cancer Related Information

  • Description
  • RBPome
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • PPI
  • Gene Ontology
Description
Ensembl ID
ENSG00000134255 (Gene tree)
Gene ID
10390
Gene Symbol
CEPT1
Alias
HCEPT1
Full Name
Choline/Ethanolamine Phosphotransferase 1
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Plus strand
Length
45,478 bases
Position
chr1:111,139,627-111,185,104
Accession
24289
RBP type
non-canonical RBP
Summary
This gene codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
30352994Discovery of RNA-binding proteins and characterization of their dynamic responses by enhanced RNA interactome captureRIC & Jurkat2018 Oct 23Perez-Perri JIDOI:10.1038/s41467-018-06557-8
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000498239CEPT1-2091957--- (aa)--
ENST00000473474CEPT1-204764--- (aa)--
ENST00000476865CEPT1-205783--- (aa)--
ENST00000460443CEPT1-202851--- (aa)--
ENST00000467362CEPT1-2035300--- (aa)--
ENST00000545121CEPT1-2102251XM_024450080ENSP00000441980416 (aa)XP_024305848Q9Y6K0
ENST00000483427CEPT1-208511--- (aa)--
ENST00000480324CEPT1-2072110--- (aa)--
ENST00000615636CEPT1-2111966-ENSP00000477632280 (aa)-A0A0C4DGS9
ENST00000357172CEPT1-2012198XM_011540496ENSP00000349696416 (aa)XP_011538798Q9Y6K0
ENST00000478042CEPT1-2062175--- (aa)--
Gene Model
Click here to download ENSG00000134255's gene model file
Pathways
Pathway IDPathway NameSource
hsa00440Phosphonate and phosphinate metabolismKEGG
hsa00564Glycerophospholipid metabolismKEGG
hsa00565Ether lipid metabolismKEGG
hsa01100Metabolic pathwaysKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000134255Platelet Function Tests1.0013700E-005-
ENSG00000134255Interleukin-1beta3.7960000E-005-
ENSG00000134255gamma-Glutamyltransferase7E-922001757
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000134255's network

* RBP PPI network refers to all genes directly bind to RBP
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0004142diacylglycerol cholinephosphotransferase activity21873635.IBAFunction
GO:0004307ethanolaminephosphotransferase activity21873635.IBAFunction
GO:0005789endoplasmic reticulum membrane21873635.IBAComponent
GO:0005789endoplasmic reticulum membrane-TASComponent
GO:0005794Golgi apparatus21873635.IBAComponent
GO:0006629lipid metabolic process10191259.TASProcess
GO:0006646phosphatidylethanolamine biosynthetic process21873635.IBAProcess
GO:0006646phosphatidylethanolamine biosynthetic process-IEAProcess
GO:0006646phosphatidylethanolamine biosynthetic process-TASProcess
GO:0006656phosphatidylcholine biosynthetic process-TASProcess
GO:0006657CDP-choline pathway-IEAProcess
GO:0016021integral component of membrane-IEAComponent
GO:0016780phosphotransferase activity, for other substituted phosphate groups21873635.IBAFunction
GO:0031965nuclear membrane-IEAComponent
GO:0046872metal ion binding-IEAFunction

Cancer associated literatures
PIDTitleArticle TimeAuthorDoi
28844958Growth arrest and DNA damage-inducible 45α protects against nonalcoholic steatohepatitis induced by methionine- and choline-deficient diet.Biochim Biophys Acta Mol Basis Dis2017 DecTanaka Ndoi: 10.1016/j.bbadis.2017.08.017

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr1111182861SilentnovelI303I0.5
BLCAchr1111184202Missense_MutationnovelF381L0.15
BLCAchr1111147871Nonsense_MutationnovelE53*0.27
BLCAchr1111159536Intronnovel0.55
BRCAchr1111159404Missense_MutationnovelC122S0.07
BRCAchr1111182208Missense_MutationNAM246L0.26
CESCchr11111847363'UTRrs5465518350.48
CESCchr1111161239Missense_MutationnovelF191C0.04
CESCchr11111843363'UTRnovel0.13
CESCchr1111147862Missense_MutationnovelR50W0.26
CESCchr1111147863Missense_Mutationrs749655031R50Q0.17
COADchr1111159639Intronnovel0.57
COADchr1111184246Missense_MutationNAA396V0.39
COADchr1111161214Frame_Shift_DelNAC185Vfs*260.36
COADchr1111161213Frame_Shift_InsNAC185Lfs*280.43
COADchr1111161188Missense_MutationnovelQ174P0.05
COADchr1111148000Missense_MutationNAN96H0.1
COADchr1111159534Splice_Regionnovel0.07
DLBCchr1111182242Missense_MutationnovelG257E0.26
GBMchr1111159630Intronnovel0.49
HNSCchr1111159442SilentnovelA134A0.17
HNSCchr1111159465Missense_MutationnovelR142I0.26
HNSCchr1111183580Frame_Shift_DelnovelI375Sfs*80.25
LAMLchr1111182815Frame_Shift_DelnovelS288Ffs*90.11
LGGchr1111183479SilentnovelK341K0.21
LGGchr1111184246Missense_MutationNAA396V0.05
LIHCchr1111161214Frame_Shift_DelNAC185Vfs*260.45
LIHCchr1111159658Intronnovel0.13
LIHCchr1111159396Missense_MutationnovelY119C0.08
LUADchr1111183569Missense_MutationNAI371M0.09
LUSCchr1111147977Missense_MutationnovelI88T0.25
OVchr1111161207Silentrs567601468D180D0.43
OVchr1111184246Missense_MutationNAA396V0.04
PAADchr1111159491Nonsense_MutationNAE151*0.28
PAADchr1111147895Missense_MutationnovelR61W0.21
READchr11111476985'UTRrs5607705640.57
READchr1111161214Frame_Shift_DelNAC185Vfs*260.26
SKCMchr1111182245Missense_MutationNAT258I0.29
SKCMchr1111147755Missense_MutationnovelS14F0.32
SKCMchr1111182817Missense_MutationNAP289S0.21
SKCMchr11111843693'UTRnovel0.15
SKCMchr11111476875'UTRnovel0.31
SKCMchr1111147767Missense_MutationnovelS18F0.58
SKCMchr1111182193Missense_MutationnovelV241M0.42
STADchr1111161213Frame_Shift_InsNAC185Lfs*280.13
STADchr1111161214Frame_Shift_DelNAC185Vfs*260.22
STADchr1111183471Missense_Mutationrs757785358M339V0.33
STADchr11111476985'UTRrs5607705640.45
STADchr1111147862Missense_MutationnovelR50W0.41
STADchr11111476985'UTRrs5607705640.48
STADchr1111147797Missense_MutationNAT28I0.06
STADchr1111147940Missense_Mutationrs752416064V76I0.47
STADchr1111182270SilentnovelF266F0.56
STADchr1111160954Intronnovel0.78
STADchr1111161213Frame_Shift_InsNAC185Lfs*280.09
THYMchr1111161214Frame_Shift_DelNAC185Vfs*260.31
UCECchr11111844263'UTRnovel0.24
UCECchr1111161238Missense_MutationnovelF191L0.18
UCECchr11111843363'UTRnovel0.12
UCECchr1111161214Frame_Shift_DelNAC185Vfs*260.13
UCECchr1111147890Missense_Mutationrs773409190A59V0.53
UCECchr1111182920Missense_MutationnovelF323C0.19
UCECchr1111182802Missense_MutationNAT284A0.09
UCECchr1111160954Intronnovel0.64
UCECchr11111477145'UTRnovel0.15
UCECchr1111161286Nonsense_MutationnovelR207*0.3
UCECchr1111182186Splice_SitenovelX239_splice0.35
UCECchr1111147881Missense_MutationnovelY56C0.4
UCECchr11111850733'UTRnovel0.41
UCECchr11111849973'UTRnovel0.06
UCECchr1111182815Missense_MutationnovelS288Y0.13
UCECchr11111843613'UTRrs7557615900.4
UCECchr11111850633'UTRnovel0.27
UCECchr1111183517Missense_Mutationrs374219627P354L0.28
UCECchr1111182271Missense_Mutationrs143162153R267C0.41
UCECchr1111147727Nonsense_MutationnovelR5*0.5
UCECchr1111182802Missense_MutationNAT284A0.48
UCECchr1111161157Missense_MutationnovelF164V0.11
UCECchr1111182271Missense_Mutationrs143162153R267C0.47
UCECchr1111184216Missense_Mutationrs778057254R386H0.06
UCECchr1111161213Frame_Shift_InsNAC185Lfs*280.28
UCECchr1111147878Missense_MutationnovelR55I0.11
UCECchr1111182271Missense_Mutationrs143162153R267C0.29
UCECchr1111184246Missense_MutationNAA396V0.25
UCECchr1111147862Missense_MutationnovelR50W0.24
UCECchr1111161254Missense_MutationNAA196V0.3
UCECchr1111159540Intronnovel0.2
UCECchr1111159441Missense_MutationNAA134V0.32
UCECchr1111183475Missense_MutationnovelT340M0.4
UCECchr1111174897SilentnovelV216V0.48

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
BRCADEL0.24635.7821e-10
CESCDEL0.08810.01281
COADDEL0.21950.00038973
DLBCDEL0.10420.0017831
LUADDEL0.23642.5961e-13
MESODEL0.36785.9874e-12
READDEL0.27270.013822
SKCMDEL0.17179.7877e-07
STADDEL0.16550.0040659
TGCTAMP0.19330.088103

Survival Analysis
CancerP-value Q-value
KIRC0.0015

Kaplan-Meier Survival Analysis

STAD0.032

Kaplan-Meier Survival Analysis

MESO0.031

Kaplan-Meier Survival Analysis

ACC0.029

Kaplan-Meier Survival Analysis

SKCM0.011

Kaplan-Meier Survival Analysis

PRAD0.041

Kaplan-Meier Survival Analysis

KIRP0.037

Kaplan-Meier Survival Analysis

PAAD0.014

Kaplan-Meier Survival Analysis

READ0.00026

Kaplan-Meier Survival Analysis

GBM0.023

Kaplan-Meier Survival Analysis

Drugs

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Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742


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