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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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TissGeneSummary

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TissGeneExp

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TissGene-miRNA

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TissGeneMut: TissGeneSNV, TissGeneCNV, and TissGeneFusions

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TissGeneNet

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TissGeneProg

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TissGeneClin: TissGeneDrug and TissGeneDisease

TissGeneSummary for CPS1
check button Gene summary
Basic gene informationGene symbolCPS1
Gene namecarbamoyl-phosphate synthase 1, mitochondrial
SynonymsCPSASE1|PHN
CytomapUCSC genome browser: 2q35
Type of geneprotein-coding
RefGenesNM_001122633.2,
NM_001122634.2,NM_001875.4,
Descriptioncarbamoyl-phosphate synthase [ammonia], mitochondrialcarbamoylphosphate synthetase I
Modification date20141211
dbXrefs MIM : 608307
HGNC : HGNC
Ensembl : ENSG00000021826
HPRD : 01995
Vega : OTTHUMG00000132994
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CPS1
BioGPS: 1373
PathwayNCI Pathway Interaction Database: CPS1
KEGG: CPS1
REACTOME: CPS1
Pathway Commons: CPS1
ContextiHOP: CPS1
ligand binding site mutation search in PubMed: CPS1
UCL Cancer Institute: CPS1
Assigned class in TissGDB*C
Included tissue-specific gene expression resourcesTiGER,GTEx
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx)CervixLiver
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA)CESCLIHC
Reference showing the relevant tissue of CPS1
Description by TissGene annotations
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C.

check button Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO termPubMed ID
GO:0032496response to lipopolysaccharide15897806
GO:0050667homocysteine metabolic process20031578
GO:0032496response to lipopolysaccharide15897806
GO:0050667homocysteine metabolic process20031578


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TissGeneExp for CPS1

check button Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
gene exp


check button Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01)
gene isoform exp


check button Gene expressions across normal tissues of GTEx data
(GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct)
- Here, we shows the matched tissue types only among our 28 cancer types.
normal gene exp


check button Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
DEG exp

- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05)
Cancer typeMean(exp) in tumorMean(exp) in matched normalLog2FCP-val.FDR
KIRC-1.3280169090.68025948-2.0082763891.38E-146.72E-14
BRCA-0.8517919091.226899319-2.0786912282.39E-232.15E-22
LIHC7.0601994249.886499424-2.82633.96E-061.87E-05
THCA-1.669117050.09597278-1.7650898312.71E-091.48E-08
KICH-2.563088576-0.006488576-2.55663.17E-061.09E-05
LUAD0.005136252-1.4772034031.4823396550.001530.003243658
KIRP-1.3354398260.532900799-1.8683406250.0006670.001917197


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TissGene-miRNA for CPS1

check button Significantly anti-correlated miRNAs of TissGene across 28 cancer types
(Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016)
(TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21)
(TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16)
(Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25))
Cancer typemiRNA idmiRNA accessionP-val.Coeff.# samples


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TissGeneMut for CPS1
TissGeneSNV for CPS1

check button nsSNV counts per each loci.
Different colors of circles represent different cancer types. Circle size denotes number of samples.
(TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25)

* Click on the image to enlarge it in a new window.
SNV lollipop
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check button Somatic nucleotide variants of TissGene across 28 cancer types
(X-axis: cancer type and Y-axis: % of mutated samples)
The numbers in parentheses are numbers of samples with mutation (nsSNVs).
(TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25)
SNV distribution

- nsSNVs sorted by frequency.
AAchangeCancer type# samples
p.R638CSKCM2
p.R1089CSKCM2
p.D358NSKCM2
p.K751NBLCA2
p.S430LSKCM2
p.R644*UCEC2
p.N74ISKCM2
p.N1401KSARC2
p.G1248ESKCM2
p.T855KLUSC2
p.P1131HLUSC1
p.V1095ALUAD1
p.R593HSTAD1
p.A782SSKCM1
p.I858NPAAD1
p.G513DESCA1
p.D973EPRAD1
p.R1095HUCEC1
p.F1281LBRCA1
p.R1174QSKCM1
p.R1481CSKCM1
p.L1472RSTAD1
p.A1186TUCEC1
p.L1472RESCA1
p.A504TSTAD1
p.R906WLUAD1
p.A485VUCEC1
p.H366YLUAD1
p.V960LUCEC1
p.V997FSTAD1
p.R689CHNSC1
p.P846SLUAD1
p.L678PSTAD1
p.V221LLUAD1
p.P1302SSKCM1
p.L904VHNSC1
p.M311ILUAD1
p.R12SBLCA1
p.R286HLIHC1
p.H1490YSKCM1
p.T961KBRCA1
p.S904CLUSC1
p.K581QSTAD1
p.G1460ESKCM1
p.D859NBLCA1
p.K483TREAD1
p.R814WPRAD1
p.L910MUCEC1
p.D1256GLIHC1
p.L937RLUSC1
p.L864ILUAD1
p.Y443FLUAD1
p.V1435ASKCM1
p.L1116PLUAD1
p.S312FSKCM1
p.A1161SLUSC1
p.M508ILUAD1
p.H69QLUSC1
p.V984ASKCM1
p.E724XREAD1
p.T85SKIRC1
p.T652ILUSC1
p.A1378SHNSC1
p.I207NLUSC1
p.I1236VBLCA1
p.S771NLIHC1
p.R781HSTAD1
p.P501TLUAD1
p.R678KSKCM1
p.P705SSKCM1
p.G982CLUAD1
p.A52TUCEC1
p.T550MSTAD1
p.G35SOV1
p.N963DLUAD1
p.N505HCOAD1
p.A275VSKCM1
p.F912ISTAD1
p.D844NKIRC1
p.S429FLUSC1
p.P1217SESCA1
p.E637QGBM1
p.R689HSTAD1
p.P382LSTAD1
p.E519QLUAD1
p.A579SOV1
p.L891VBLCA1
p.A103VESCA1
p.T166ILUAD1
p.A855SLUAD1
p.P1211SESCA1
p.A498TSTAD1
p.S924XPAAD1
p.R1492GLUAD1
p.G1077DSTAD1
p.A1161VGBM1
p.K1230ELIHC1
p.L1478RSTAD1
p.L1470PESCA1
p.T1213NLUSC1
p.K934NLUAD1
p.N698SSKCM1
p.K630NSTAD1
p.P464RLUAD1
p.R1001CLUAD1
p.L672PSTAD1
p.G215RSKCM1
p.R689CSTAD1
p.G698DLUSC1
p.M662ILUSC1
p.R1319MLUAD1
p.D826YREAD1
p.E694KSKCM1
p.V469FLUAD1
p.P501LOV1
p.R803SLUAD1
p.S980NCOAD1
p.K1275NUCEC1
p.F918ISTAD1
p.E639*UCEC1
p.G363ETHCA1
p.V1139AUCEC1
p.R1323WLIHC1
p.R721LLIHC1
p.N1062TESCA1
p.S631PSTAD1
p.K560TLUAD1
p.L1258FLUAD1
p.E534XSTAD1
p.V242ABLCA1
p.S755FHNSC1
p.G1077RLIHC1
p.H1190RSTAD1
p.S625PSTAD1
p.E162*UCEC1
p.A675VHNSC1
p.E255KPAAD1
p.H1162YLUAD1
p.I719SBRCA1
p.N1068TESCA1
p.F992LLUAD1
p.D844EUCEC1
p.T95KLUAD1
p.S1216NPAAD1
p.A340VSKCM1
p.Q194KESCA1
p.R9KESCA1
p.R775HSTAD1
p.A303SLUAD1
p.A726VSKCM1
p.A314TCOAD1
p.L870ILUSC1
p.L200FLUAD1
p.R777QREAD1
p.R336QREAD1
p.P774TKIRC1
p.A1025VSKCM1
p.V831ESKCM1
p.F394LLUAD1
p.T373ICOAD1
p.F37ICESC1
p.D838NKIRC1
p.R587HSTAD1
p.A1321SLUAD1
p.R550HCOAD1
p.R721QESCA1
p.R286HCOAD1
p.R1492MLUAD1
p.K1076RSTAD1
p.E1034*LUAD1
p.M976ILUAD1
p.M542LLUAD1
p.P411SLUAD1
p.T544MUCS1
p.S597*LUAD1
p.M102VGBM1
p.H967NLUAD1
p.Q359KLUAD1
p.L270FLUAD1
p.R3KESCA1
p.G1339VPAAD1
p.G737_spliceLUSC1
p.Q194KLUSC1
p.V1101ILUSC1
p.P668SSKCM1
p.V426FTGCT1
p.V753ASTAD1
p.K575QSTAD1
p.K207ELUAD1
p.T1214ISKCM1
p.T24ALUAD1
p.V1164MPRAD1
p.H1447YSKCM1
p.L937PESCA1
p.P265QLUAD1
p.Q1243*SKCM1
p.P464QLUAD1
p.I404MBRCA1
p.D1129NLUSC1
p.K375ESTAD1
p.G1182CLUAD1
p.G258ECOAD1
p.I864NPAAD1
p.R723QSKCM1
p.A657SCOAD1
p.L1464PESCA1
p.Q1088PLUSC1
p.P195QSKCM1
p.S557LBRCA1
p.H1196RSTAD1
p.Y489*UCEC1
p.R1002QCOAD1
p.R695HSTAD1
p.P851SSKCM1
p.P563LBLCA1
p.H249QUCEC1
p.L506MLUAD1
p.K369ESTAD1
p.E155KSKCM1
p.R1262*SARC1
p.R43MUCEC1
p.H1343YSKCM1
p.V1003FSTAD1
p.S819CBLCA1
p.L5FREAD1
p.R1377QUCEC1
p.R1459WUCEC1
p.P939LSKCM1
p.K527TLUAD1
p.R1010CSTAD1
p.P1407SSKCM1
p.I1342FHNSC1
p.C522FCHOL1
p.A1119VLUAD1
p.E528*STAD1
p.G507DESCA1
p.E1171QHNSC1
p.H1039YSKCM1
p.K1070RSTAD1
p.G363RTHCA1
p.Q443HLUSC1
p.D1289GBLCA1
p.E866KSKCM1
p.Y443HCOAD1
p.G628VLUAD1
p.W29*SKCM1
p.L958VHNSC1
p.L1264MESCA1
p.N1068KSTAD1
p.P739LLUSC1
p.W149XLIHC1
p.Q500KLUAD1
p.E446*UCEC1
p.S918*PAAD1
p.R888CGBM1
p.L1128FBLCA1
p.E153DREAD1
p.L1478RESCA1
p.H996YSKCM1
p.S847TOV1
p.P780TKIRC1
p.Q517XKIRC1
p.P388LSTAD1
p.V759ASTAD1
p.G1083RLIHC1
p.E1175KSKCM1
p.I867MLUAD1
p.L1258FKIRP1
p.Q548PSTAD1
p.E1145KSKCM1
p.L1302FLUSC1
p.A687TLGG1
p.E657DUCEC1
p.G193CLUSC1
p.P1407LBLCA1
p.D502HLUAD1
p.P956SSKCM1
p.R1095CUCEC1
p.A1476VSKCM1
p.L532FLUSC1
p.L1006RSTAD1
p.D358NLUAD1
p.V628LLUSC1
p.E703DCOAD1
p.S1267FLIHC1
p.C516FSTAD1
p.G756RHNSC1
p.A1233SSKCM1
p.P81QLUAD1
p.A334DLUAD1
p.P601SSKCM1
p.S557XESCA1
p.N1062KSTAD1
p.R727QESCA1
p.R1129KSKCM1
p.H1447DLUAD1
p.R523KLGG1
p.T1449ALUSC1
p.D1146NSKCM1
p.P388QUCEC1
p.L1251IUCEC1
p.V1306ALUAD1
p.V1282ESKCM1
p.T91SKIRC1
p.M662KLUSC1
p.L1258MESCA1
p.S1314FSKCM1
p.P411LHNSC1
p.C522FSTAD1
p.H782YHNSC1
p.C822RGBM1
p.Q188KESCA1
p.L260FLUAD1
p.N680IBRCA1
p.C717FKIRP1
p.S755FSKCM1
p.T550MUCS1
p.A1310SLUAD1
p.T1084RBRCA1
p.V1377EHNSC1
p.R1377WUCEC1
p.K1074NACC1
p.R270QCOAD1
p.R727LLIHC1
p.T763ISKCM1
p.K405RLIHC1
p.R906MLUAD1
p.S1222NPAAD1
p.A1054STHYM1
p.K914NLUSC1
p.L504FHNSC1
p.A863DDLBC1
p.Q554PSTAD1
p.G122RUCEC1
p.K636NSTAD1


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TissGeneCNV for CPS1

check button Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples)
(TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16)
CNV


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TissGeneFusions for CPS1

check button Fusion genes including TissGene
(ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01)
DatabaseSrcCancer typeSampleFusion geneORF5'-gene BP3'-gene BP
Chimerdb3.0ChiTaRsNAAV694689CPS1-PRDX3chr2:211421447chr10:120927794
Chimerdb3.0ChiTaRsNABX102832CPS1-IFNGR1chr2:211523729chr6:137518622
TCGAfusionPortalPRADAPRADTCGA-KC-A7F3-01AZC3H15-CPS1In-frameChr2:187351184Chr2:211454830


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TissGeneNet for CPS1

check button Co-expressed gene networks based on protein-protein interaction data (CePIN)
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(PINA2 ppi data)
BRCA (tumor)BRCA (normal)
CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (tumor)CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (normal)
bullet pointbullet point
COAD (tumor)COAD (normal)
CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (tumor)CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (normal)
bullet pointbullet point
HNSC (tumor)HNSC (normal)
CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (tumor)CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (normal)
bullet pointbullet point
KICH (tumor)KICH (normal)
CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (tumor)CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (normal)
bullet pointbullet point
KIRC (tumor)KIRC (normal)
CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (tumor)CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (normal)
bullet pointbullet point
KIRP (tumor)KIRP (normal)
CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (tumor)CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (normal)
bullet pointbullet point
LIHC (tumor)LIHC (normal)
CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (tumor)CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (normal)
bullet pointbullet point
LUAD (tumor)LUAD (normal)
CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (tumor)CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (normal)
bullet pointbullet point
LUSC (tumor)LUSC (normal)
CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (tumor)CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (normal)
bullet pointbullet point
PRAD (tumor)PRAD (normal)
CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (tumor)CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (normal)
bullet pointbullet point
STAD (tumor)STAD (normal)
CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (tumor)CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (normal)
bullet pointbullet point
THCA (tumor)THCA (normal)
CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (tumor)CPS1, UBC, YWHAZ, YWHAQ, RAF1, RICTOR, ARAF, H2AFX (normal)
bullet pointbullet point


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TissGeneProg for CPS1

check button Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image to enlarge it in a new window.
survival 1

check button Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 2

check button Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 3

check button Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 4

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TissGeneClin for CPS1
TissGeneDrug for CPS1

check button Drug information targeting TissGene
(DrugBank Version 5.0.6, 2017-04-01)
DrugBank IDDrug nameDrug activityDrug typeDrug status


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TissGeneDisease for CPS1

check button Disease information associated with TissGene
(DisGeNet, 2016-06-01)
Disease IDDisease name# pubmedsSource
umls:C0751753Carbamoyl-Phosphate Synthase I Deficiency Disease12BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT
umls:C0220994Hyperammonemia3CTD_human,GAD
umls:C2239176Liver carcinoma3BeFree
umls:C0020538Hypertensive disease2LHGDN,RGD
umls:C0023893Liver Cirrhosis, Experimental2CTD_human,RGD
umls:C0023903Liver neoplasms2BeFree
umls:C0085605Liver Failure2RGD
umls:C0520459Necrotizing Enterocolitis2BeFree,GAD,LHGDN
umls:C1561955Fibrinogen Adverse Event2GAD,GWASCAT
umls:C0001122Acidosis1RGD
umls:C0010414Infection by Cryptococcus neoformans1BeFree
umls:C0011853Diabetes Mellitus, Experimental1RGD
umls:C0013080Down Syndrome1BeFree
umls:C0014544Epilepsy1GAD
umls:C0015695Fatty Liver1RGD
umls:C0015934Fetal Growth Retardation1RGD
umls:C0019188Hepatitis, Animal1RGD
umls:C0019360Herpes zoster disease1BeFree
umls:C0020542Pulmonary Hypertension1BeFree,GAD
umls:C0022661Kidney Failure, Chronic1GAD
umls:C0023904Liver Neoplasms, Experimental1RGD
umls:C0025362Mental Retardation1BeFree
umls:C0028754Obesity1RGD
umls:C0031190Persistent Fetal Circulation Syndrome1CTD_human
umls:C0032768Postherpetic neuralgia1BeFree,CLINVAR
umls:C0032927Precancerous Conditions1CTD_human
umls:C0036341Schizophrenia1GAD
umls:C0040336Tobacco Use Disorder1GAD
umls:C0042373Vascular Diseases1GAD
umls:C0150055Chronic pain1BeFree
umls:C0151526Premature Birth1GAD
umls:C0154246Urea Cycle Disorders, Inborn1BeFree
umls:C0279000Liver and Intrahepatic Biliary Tract Carcinoma1BeFree
umls:C0345904Malignant neoplasm of liver1BeFree
umls:C0376618Endotoxemia1CTD_human
umls:C0740380Varicella zoster1BeFree
umls:C0741916Cardiac defects1BeFree
umls:C1512409Hepatocarcinogenesis1BeFree
umls:C1561535Creatinine finding1GAD
umls:C1561643Chronic Kidney Diseases1GWASCAT
umls:C1842297VENOOCCLUSIVE DISEASE AFTER BONE MARROW TRANSPLANTATION, SUSCEPTIBILITY TO0CLINVAR
umls:C2677362Alveolar capillary dysplasia0CTD_human