EuRBPDB

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TCGA tumor abbreviations
  • ACCAdrenocortical carcinoma
  • BLCABladder Urothelial Carcinoma
  • BRCABreast invasive carcinoma
  • CESCCervical squamous cell carcinoma and endocervical adenocarcinoma
  • CHOLCholangio carcinoma
  • COADColon adenocarcinoma
  • DLBCLymphoid Neoplasm Diffuse Large B-cell Lymphoma
  • ESCAEsophageal carcinoma
  • GBMGlioblastoma multiforme
  • HNSCHead and Neck squamous cell carcinoma
  • KICHKidney Chromophobe
  • KIRCKidney renal clear cell carcinoma
  • KIRPKidney renal papillary cell carcinoma
  • LAMLAcute Myeloid Leukemia
  • LGGBrain Lower Grade Glioma
  • LIHCLiver hepatocellular carcinoma
  • LUADLung adenocarcinoma
  • LUSCLung squamous cell carcinoma
  • MESOMesothelioma
  • OVOvarian serous cystadenocarcinoma
  • PAADPancreatic adenocarcinoma
  • PCPGPheochromocytoma and Paraganglioma
  • PRADProstate adenocarcinoma
  • READRectum adenocarcinoma
  • SARCSarcoma
  • SKCMSkin Cutaneous Melanoma
  • STADStomach adenocarcinoma
  • TGCTThyroid carcinoma
  • THCAThyroid carcinoma
  • THYMThymoma
  • UCECUterine Corpus Endometrial Carcinoma
  • UCSUterine Carcinosarcoma
  • UVMUveal Melanoma

Note: Click here to get the extension of tumor abbreviations.


  • Cancer Related Information
  • Basic Information

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr1095633650Splice_SitenovelX187_splice0.48
ACCchr1095626748Missense_MutationnovelM369I0.22
BLCAchr1095643170Missense_MutationnovelS42F0.2
BLCAchr1095610214Missense_MutationnovelG730D0.29
BLCAchr1095621164Missense_MutationnovelA445V0.34
BLCAchr1095653405Splice_Regionnovel0.06
BLCAchr1095616504SilentNAI526I0.57
BLCAchr1095614159Splice_RegionnovelV536V0.44
BLCAchr10956066853'UTRnovel0.22
BRCAchr1095626747Missense_MutationNAA370T0.11
BRCAchr1095632967Missense_MutationnovelD267V0.05
BRCAchr1095637364Missense_MutationnovelR126C0.09
BRCAchr1095621209Frame_Shift_DelnovelL423Hfs*40.12
BRCAchr1095611303Missense_MutationNAI688T0.42
BRCAchr1095643044Missense_MutationNAR84P0.33
BRCAchr1095606902Nonsense_MutationNAG750*0.41
BRCAchr10956065603'UTRnovel0.33
CESCchr1095613984Missense_MutationNAD595H0.19
CESCchr1095637105SilentnovelI182I0.48
COADchr1095606803Missense_MutationNAL783I0.35
COADchr1095621221Nonsense_MutationnovelL426*0.58
COADchr1095626746Missense_MutationnovelA370V0.25
COADchr1095606908Missense_Mutationrs773903524A748T0.06
COADchr1095637358Missense_MutationNAR128C0.44
COADchr1095606857Nonsense_MutationnovelR765*0.22
COADchr1095614095Missense_MutationnovelR558C0.06
COADchr10956065603'UTRnovel0.41
COADchr1095643068Missense_MutationnovelK76R0.06
COADchr1095613751Missense_MutationnovelR638S0.11
COADchr1095637358Missense_MutationNAR128C0.4
COADchr1095633564Missense_MutationNAI215T0.21
COADchr1095637332SilentNAS136S0.2
ESCAchr1095626744Nonsense_MutationnovelR371*0.08
ESCAchr1095613860Missense_MutationnovelR602I0.17
GBMchr1095626705Missense_MutationnovelQ384E0.25
GBMchr1095621034SilentnovelP488P0.42
GBMchr1095637099SilentNAA184A0.72
GBMchr1095637370Nonsense_MutationnovelK124*0.16
GBMchr1095613998Missense_MutationnovelS590Y0.45
GBMchr1095614131Missense_MutationnovelC546S0.07
HNSCchr10956065713'UTRnovel0.5
HNSCchr1095614026Missense_Mutationrs777991529E581K0.05
KIRCchr1095614101Missense_MutationNAI556V0.29
KIRPchr1095625441SilentnovelI389I0.1
KIRPchr10956067013'UTRnovel0.63
LAMLchr1095613799SilentnovelR622R0.04
LAMLchr1095637413SilentnovelG109G0.04
LIHCchr1095643017Missense_MutationNAG93E0.46
LUADchr10956533915'UTRnovel0.11
LUADchr1095628403Nonsense_MutationNAK300*0.36
LUADchr1095621061SilentnovelI479I0.12
LUADchr1095613766SilentNAI633I0.28
LUADchr1095610293Splice_SitenovelX704_splice0.17
LUSCchr1095643127SilentnovelT56T0.26
LUSCchr1095621087Frame_Shift_DelnovelL464Ffs*110.13
LUSCchr1095627487Missense_MutationnovelE345Q0.2
LUSCchr1095606826Missense_MutationnovelS775L0.44
LUSCchr1095653352Missense_MutationnovelG9A0.07
LUSCchr1095626731Missense_MutationnovelR375M0.38
LUSCchr1095637158Nonsense_MutationnovelG165*0.18
LUSCchr1095637378Missense_MutationnovelA121V0.32
LUSCchr10956066983'UTRnovel0.28
OVchr1095621063Missense_MutationnovelI479F0.37
OVchr10956533845'UTRnovel0.09
OVchr1095610234SilentnovelA723A0.15
OVchr1095621067SilentnovelL477L0.23
OVchr1095621113Missense_MutationnovelK462R0.05
OVchr10956533925'UTRnovel0.14
OVchr1095614118Missense_MutationnovelK550R0.08
OVchr1095616547Missense_MutationnovelS512I0.16
PAADchr1095637328Missense_MutationNAR138W0.17
PRADchr1095621132Missense_Mutationrs763868475R456C0.18
READchr1095627530SilentNAG330G0.22
SARCchr1095643131Missense_Mutationrs754880517R55H0.5
SKCMchr1095626722Missense_MutationnovelA378V0.21
SKCMchr1095611373Nonsense_Mutationrs751181507R665*0.24
SKCMchr1095611285Missense_MutationNAS694F0.1
SKCMchr1095643132Missense_MutationNAR55C0.06
SKCMchr1095613858Missense_MutationnovelD603N0.43
SKCMchr1095633577Missense_MutationNAL211F0.32
SKCMchr1095611433Missense_MutationNAH645Y0.16
SKCMchr1095633596SilentnovelN204N0.81
SKCMchr1095643007SilentnovelA96A0.26
SKCMchr1095643013SilentNAR94R0.47
SKCMchr1095637337Nonsense_MutationNAQ135*0.11
SKCMchr10956066713'UTRnovel0.44
SKCMchr1095628408Missense_MutationnovelG298E0.52
SKCMchr1095628409Missense_MutationnovelG298R0.53
SKCMchr1095637312Missense_MutationnovelS143L0.18
STADchr1095626697Splice_Regionnovel0.17
STADchr1095626700Splice_SitenovelX384_splice0.16
STADchr1095643055SilentNAA80A0.14
STADchr1095611373Nonsense_Mutationrs751181507R665*0.42
STADchr1095643055SilentNAA80A0.37
STADchr1095643015Missense_MutationNAR94C0.26
STADchr10956065603'UTRnovel0.5
STADchr1095614101Missense_MutationNAI556V0.36
STADchr1095637327Missense_MutationNAR138Q0.3
STADchr1095637358Missense_MutationNAR128C0.46
STADchr1095653405Splice_Regionnovel0.07
STADchr1095643144Missense_Mutationrs755553870V51I0.29
STADchr1095643080Missense_MutationNAR72I0.28
STADchr1095633019Missense_MutationnovelA250T0.28
STADchr1095627470SilentNAG350G0.15
STADchr1095632964Missense_MutationNAV268A0.17
STADchr1095610250Frame_Shift_DelnovelC718Lfs*350.06
STADchr1095611291Missense_MutationNAG692D0.07
TGCTchr1095610264Silentrs147842812H713H0.35
THCAchr1095637358Frame_Shift_DelnovelR128Afs*210.04
THCAchr1095637360Frame_Shift_DelnovelR126Afs*30.04
THYMchr10956066483'UTRnovel0.25
UCECchr1095610209Missense_Mutationrs760203992R732C0.41
UCECchr1095606770Missense_MutationnovelT794A0.26
UCECchr1095621189Missense_MutationnovelA437S0.09
UCECchr1095621051Missense_Mutationrs764145947R483C0.29
UCECchr1095611435Missense_MutationnovelI644T0.07
UCECchr1095611436Frame_Shift_InsnovelI644Afs*120.07
UCECchr1095628433Missense_Mutationrs368147360G290R0.42
UCECchr1095637197Missense_MutationnovelA152S0.44
UCECchr1095606908Missense_Mutationrs773903524A748T0.37
UCECchr1095637328Missense_MutationNAR138W0.46
UCECchr1095611423Frame_Shift_InsnovelP648Lfs*110.13
UCECchr1095613996Missense_Mutationrs755594128E591K0.38
UCECchr1095628474Frame_Shift_DelNAP276Qfs*200.1
UCECchr1095611423Frame_Shift_InsnovelP648Hfs*240.34
UCECchr1095611425Frame_Shift_DelnovelG647Afs*200.1
UCECchr1095606791Missense_MutationNAL787I0.41
UCECchr1095614137Missense_MutationNAD544Y0.33
UCECchr1095616540Silentrs777553274R514R0.36
UCECchr1095637285Splice_SiteNAX151_splice0.33
UCECchr1095611419In_Frame_InsnovelK649delinsNLVR0.04
UCECchr1095633510Missense_MutationnovelS233N0.3
UCECchr1095611372Missense_Mutationrs766264810R665Q0.13
UCECchr1095653290Missense_Mutationrs113678237H30Y0.44
UCECchr1095614095Missense_MutationnovelR558C0.39
UCECchr10956065883'UTRnovel0.31
UCECchr1095626746Missense_MutationnovelA370V0.11
UCECchr10956065643'UTRnovel0.38
UCECchr1095626743Missense_Mutationrs745614904R371Q0.34
UCECchr1095621050Missense_Mutationrs756168752R483H0.48
UCECchr1095637409Nonsense_MutationnovelE111*0.52
UCECchr1095611269Silentrs780721947I699I0.52
UCECchr1095643091Silentrs768807587K68K0.45
UCECchr10956065603'UTRnovel0.33
UCECchr1095611302SilentNAI688I0.46
UCECchr1095621148SilentNAS450S0.31
UCECchr1095625425Missense_MutationNAL395M0.37
UCECchr1095637105SilentnovelI182I0.21
UCECchr1095616595Missense_MutationnovelA496V0.35
UCECchr1095643060Missense_MutationnovelS79G0.45
UCECchr1095614127Missense_Mutationrs199668897R547H0.29
UCECchr1095625409Missense_MutationnovelR400H0.09
UCECchr1095628380SilentnovelG307G0.2
UCECchr1095625378Missense_MutationnovelD410E0.29
UCECchr10956065603'UTRnovel0.33
UCECchr1095626744Nonsense_MutationnovelR371*0.08
UCECchr1095633631Missense_MutationnovelD193H0.12
UCECchr1095633632Missense_MutationnovelL192F0.12
UCECchr1095643021Missense_MutationNAL92V0.68
UCECchr1095637170Missense_MutationnovelC161R0.2
UCECchr1095611415Missense_MutationnovelA651T0.07
UCECchr1095611372Missense_Mutationrs766264810R665Q0.06
UCECchr10956065263'UTRnovel0.34
UCECchr1095606908Missense_Mutationrs773903524A748T0.38
UCECchr1095633562Missense_MutationnovelV216I0.27
UCECchr1095653348SilentnovelF10F0.29
UCECchr1095643063Missense_Mutationrs762588270G78S0.42

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
ACCDEL0.10.19593
CHOLDEL0.19440.048655
COADDEL0.17749.4741e-07
MESODEL0.28740.00015289
PAADDEL0.13040.169
READDEL0.24240.014135
THCADEL0.0160.011063
THYMDEL0.03250.10563
UCSDEL0.30360.1218

Survival Analysis
CancerP-value Q-value
KIRC0.00011

Kaplan-Meier Survival Analysis

STAD0.0007

Kaplan-Meier Survival Analysis

SARC0.0022

Kaplan-Meier Survival Analysis

MESO0.00028

Kaplan-Meier Survival Analysis

ACC0.0023

Kaplan-Meier Survival Analysis

LUSC0.012

Kaplan-Meier Survival Analysis

BRCA0.024

Kaplan-Meier Survival Analysis

KIRP0.00091

Kaplan-Meier Survival Analysis

UCEC0.0029

Kaplan-Meier Survival Analysis

LIHC0.0019

Kaplan-Meier Survival Analysis

LGG0.00043

Kaplan-Meier Survival Analysis

LUAD0.033

Kaplan-Meier Survival Analysis

Drugs

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Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742

  • Description
  • RBPome
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000059573 (Gene tree)
Gene ID
5832
Gene Symbol
ALDH18A1
Alias
P5CS|GSAS|PYCS|SPG9
Full Name
aldehyde dehydrogenase 18 family member A1
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Minus strand
Length
50,882 bases
Position
chr10:95,605,929-95,656,810
Accession
9722
RBP type
non-canonical RBP
Summary
This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & HEK2932019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & HEK2932018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004
29431736Capturing the interactome of newly transcribed RNAPolyT-RICK & Hela2018 Feb 12Bao XDOI: 10.1038/nmeth.4595
22658674Insights into RNA biology from an atlas of mammalian mRNA-binding proteinsRIC & Hela2012 May 31Castello ADOI: 10.1016/j.cell.2012.04.031
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & MCF10A2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & U2OS2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
27453046Comprehensive Identification of RNA-Binding Domains in Human CellsRIC & Hela2016 Aug 18Castello ADOI: 10.1016/j.molcel.2016.06.029
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000489386ALDH18A1-205543--- (aa)--
ENST00000371221ALDH18A1-2013337XM_024448096ENSP00000360265793 (aa)XP_024303864P54886
ENST00000485428ALDH18A1-204726--- (aa)--
ENST00000371224ALDH18A1-2023359XM_024448094ENSP00000360268795 (aa)XP_024303862P54886
ENST00000483788ALDH18A1-203750--- (aa)--
Gene Model
Click here to download ENSG00000059573's gene model file
Pathways
Pathway IDPathway NameSource
hsa00330Arginine and proline metabolismKEGG
hsa01100Metabolic pathwaysKEGG
hsa01230Biosynthesis of amino acidsKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000059573Metabolism8E-1124816252
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000059573rs563224091095636205TBlood metabolite levels24816252[0.0071-0.0149] unit decrease0.011EFO_0005664
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000059573's network

* RBP PPI network refers to all genes directly bind to RBP
Orthologs identified by RBPome
Ensembl IDGene SymbolCoverageIdentiy OrthologGene SymbolCoverageIdentiy Species
ENSG00000059573ALDH18A19155.372WBGene00011938alh-138955.372Caenorhabditis_elegans
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0003723RNA binding22658674.HDAFunction
GO:0004349glutamate 5-kinase activity11092761.IDAFunction
GO:0004349glutamate 5-kinase activity26297558.IMPFunction
GO:0004350glutamate-5-semialdehyde dehydrogenase activity21873635.IBAFunction
GO:0004350glutamate-5-semialdehyde dehydrogenase activity11092761.IDAFunction
GO:0004350glutamate-5-semialdehyde dehydrogenase activity26297558.IMPFunction
GO:0005515protein binding25416956.IPIFunction
GO:0005524ATP binding-IEAFunction
GO:0005739mitochondrion21873635.IBAComponent
GO:0005739mitochondrion26297558.26320891.IDAComponent
GO:0005743mitochondrial inner membrane-TASComponent
GO:0005829cytosol-IDAComponent
GO:0006536glutamate metabolic process11092761.IMPProcess
GO:0006561proline biosynthetic process11092761.26297558.IMPProcess
GO:0006592ornithine biosynthetic process11092761.26297558.IMPProcess
GO:0008652cellular amino acid biosynthetic process-TASProcess
GO:0016310phosphorylation-IEAProcess
GO:0019240citrulline biosynthetic process11092761.26297558.IMPProcess
GO:0042802identical protein binding26297558.IDAFunction
GO:0055114oxidation-reduction process-IEAProcess
GO:0055129L-proline biosynthetic process-IEAProcess
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