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

Cancer associated literatures
PIDTitleArticle TimeAuthorDoi
28538732CPS1 maintains pyrimidine pools and DNA synthesis in KRAS/LKB1-mutant lung cancer cells.Nature2017 Jun 1Kim Jdoi: 10.1038/nature22359

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr2210591858SilentnovelI325I0.38
ACCchr2210592935SilentnovelT381T0.43
ACCchr2210647943Missense_MutationnovelK1074N0.32
ACCchr2210663122Splice_SitenovelX1310_splice0.29
BLCAchr2210599448Missense_Mutationrs187860166A479V0.44
BLCAchr2210660571SilentNAK1281K0.29
BLCAchr2210648538Splice_RegionNAL1134L0.09
BLCAchr2210590105Splice_SitenovelX238_splice0.12
BLCAchr2210556769Missense_MutationnovelR12S0.13
BLCAchr2210658638Missense_Mutationrs767193495I1236V0.11
BLCAchr22105566775'UTRnovel0.42
BLCAchr2210590119Missense_MutationNAV242A0.49
BLCAchr2210600693Missense_MutationnovelP563L0.27
BLCAchr2210612181Missense_MutationNAS819C0.24
BLCAchr2210648520Missense_MutationNAL1128F0.2
BLCAchr2210599562Splice_SitenovelX517_splice0.23
BLCAchr2210608421Missense_MutationNAK751N0.42
BLCAchr2210675786Missense_MutationNAP1407L0.51
BLCAchr2210660594Missense_MutationnovelD1289G0.82
BRCAchr2210612272Silentrs371426184T849T0.24
BRCAchr2210591953Missense_Mutationrs761817028N357S0.28
BRCAchr2210647954Missense_MutationNAT1078R0.25
BRCAchr2210582657Missense_MutationnovelV190A0.09
BRCAchr2210600657Missense_MutationNAS551L0.36
BRCAchr2210605126SilentNAL621L0.17
BRCAchr2210606887Missense_MutationNAI713S0.22
BRCAchr2210675763Silentrs548201746N1399N0.4
BRCAchr2210590858Missense_MutationNAT300I0.32
BRCAchr22106780773'UTRnovel0.31
BRCAchr2210639184Missense_MutationNAT955K0.36
BRCAchr2210602236Missense_MutationnovelG581D0.05
BRCAchr2210594602Missense_MutationnovelV420A0.04
BRCAchr2210616534Missense_MutationNAL894V0.17
BRCAchr2210654073Missense_MutationnovelE1177Q0.11
BRCAchr2210656603Missense_Mutationrs774692248Q1213K0.27
BRCAchr2210588057Splice_SiteNAX208_splice0.22
BRCAchr2210647869Missense_MutationNAG1050S0.19
BRCAchr2210594537Missense_MutationNAI398M0.23
BRCAchr2210654074Missense_MutationnovelE1177G0.12
BRCAchr2210606932Nonsense_MutationnovelK728delinsNYF*SSSFH*0.45
BRCAchr2210660640Frame_Shift_InsnovelY1305Rfs*90.09
BRCAchr2210660553Missense_MutationNAF1275L0.21
BRCAchr2210647885Missense_MutationnovelS1055L0.28
BRCAchr2210606770Missense_MutationNAN674I0.14
BRCAchr2210582651Missense_Mutationrs376091629Q188R0.14
CESCchr2210602321SilentNAL609L0.43
CESCchr2210582682Silentrs150369462Q198Q0.33
CESCchr2210556757SilentnovelF8F0.36
CESCchr2210650393Frame_Shift_InsnovelD1146Mfs*40.15
CESCchr2210576441Missense_MutationnovelA111V0.35
CESCchr2210590177Silentrs142468138I261I0.37
CESCchr2210602316Missense_MutationnovelD608N0.4
CESCchr2210668199Missense_MutationnovelG1339D0.43
CESCchr2210556824Missense_MutationNAF31I0.33
CESCchr22106780243'UTRnovel0.09
CESCchr2210663193Missense_MutationnovelG1333A0.48
COADchr2210576468Missense_MutationNAY120C0.52
COADchr2210590899Missense_MutationNAA314T0.23
COADchr2210595541Nonsense_MutationNAE440*0.29
COADchr2210642563SilentnovelV1013V0.25
COADchr2210616521Missense_MutationnovelK889N0.4
COADchr2210677024Missense_Mutationrs754446815S1431N0.36
COADchr2210650420Missense_MutationNAE1154D0.39
COADchr2210660643SilentnovelY1305Y0.38
COADchr2210590167Missense_MutationNAG258E0.41
COADchr2210658630Missense_MutationNAA1233D0.37
COADchr2210602324Missense_MutationnovelS610R0.17
COADchr2210612201Missense_Mutationrs757451824R826C0.65
COADchr2210677090Missense_MutationNAR1453Q0.21
COADchr2210606769Missense_MutationnovelN674D0.14
COADchr2210599512SilentnovelQ500Q0.38
COADchr2210594576Silentrs779447126P411P0.18
COADchr2210606911Missense_Mutationrs752339705R721Q0.38
COADchr2210639192Missense_MutationnovelL958I0.07
COADchr22104777605'UTRnovel0.12
COADchr2210594522SilentnovelS393S0.26
COADchr2210608528Missense_Mutationrs571936934R787Q0.37
COADchr2210639186Missense_MutationNAN956H0.28
COADchr2210576399Missense_MutationnovelA97D0.34
COADchr2210648043Missense_MutationNAA1108S0.22
COADchr2210590816Missense_Mutationrs148654695R286H0.2
COADchr2210654047Missense_MutationnovelK1168T0.07
COADchr2210595550Missense_MutationNAY443H0.13
COADchr2210677942Nonsense_MutationnovelS1487Rfs*20.06
COADchr2210677944Missense_MutationnovelL1488F0.01
COADchr22106780243'UTRnovel0.07
COADchr2210647879Missense_MutationnovelI1053N0.28
COADchr2210612165Missense_Mutationrs772782772R814W0.41
COADchr2210642526Missense_Mutationrs545355868R1001H0.24
COADchr2210608476Missense_MutationnovelV770I0.13
DLBCchr22105566515'UTRnovel0.24
DLBCchr2210616424Missense_MutationnovelA857D0.37
DLBCchr2210599551SilentnovelA513A0.21
ESCAchr2210677123Missense_MutationnovelL1464P0.14
ESCAchr2210606911Missense_Mutationrs752339705R721Q0.38
ESCAchr2210582650Missense_MutationNAQ188K0.07
ESCAchr2210650439Splice_SitenovelX1160_splice0.23
ESCAchr2210647906Missense_MutationnovelN1062T0.16
ESCAchr2210677897Missense_MutationNAL1472R0.39
ESCAchr2210660500Missense_MutationnovelL1258M0.29
ESCAchr2210556741Missense_MutationnovelR3K0.29
GBMchr2210677072Missense_MutationnovelH1447P0.14
GBMchr2210677979SilentnovelA1499A0.05
GBMchr2210612171Missense_MutationNAC816R0.03
GBMchr22106780183'UTRnovel0.09
GBMchr2210640045Missense_Mutationrs121912595G982D0.83
GBMchr2210642525Missense_MutationnovelR1001S0.2
GBMchr2210675752Missense_MutationnovelD1396N0.34
GBMchr2210642647SilentnovelL1041L0.08
GBMchr2210556798Missense_MutationnovelN22S0.04
GBMchr2210637703Nonsense_MutationnovelE897*0.07
GBMchr22106780913'UTRnovel0.13
GBMchr2210616498Missense_Mutationrs148519116R882C0.46
GBMchr2210677082Nonsense_MutationnovelY1450*0.04
GBMchr2210654082Missense_Mutationrs776047286A1180T0.25
GBMchr2210576395Missense_MutationNAM96V0.31
GBMchr2210605156Missense_MutationNAE631Q0.27
GBMchr2210608466SilentnovelL766L0.04
GBMchr2210650422Missense_Mutationrs766125631A1155V0.32
HNSCchr2210556775SilentnovelL14L0.06
HNSCchr2210599552SilentnovelL514L0.23
HNSCchr2210608434Missense_Mutationrs773998721G756R0.47
HNSCchr2210594575Missense_Mutationrs769284353P411L0.22
HNSCchr2210608432Missense_MutationNAS755F0.37
HNSCchr2210606936SilentnovelA729A0.1
HNSCchr2210606773Missense_MutationNAA675V0.5
HNSCchr2210637724Missense_MutationnovelL904V0.15
HNSCchr2210674932Missense_MutationnovelA1378S0.26
HNSCchr2210606814Missense_Mutationrs147443001R689C0.16
HNSCchr2210608512Missense_MutationnovelH782Y0.18
HNSCchr2210599524Missense_MutationnovelL504F0.27
HNSCchr2210654055Missense_MutationnovelE1171Q0.16
HNSCchr2210656569SilentnovelV1201V0.62
HNSCchr2210674937SilentnovelE1379E0.24
HNSCchr2210639192Missense_MutationNAL958V0.08
KIRCchr2210608488Missense_MutationNAP774T0.13
KIRCchr2210612237Missense_Mutationrs746628905D838N0.28
KIRCchr22105566845'UTRnovel0.29
KIRCchr2210656608SilentNAT1214T0.46
KIRCchr2210576363Missense_MutationNAT85S0.22
KIRPchr2210658688Missense_MutationnovelL1252F0.24
KIRPchr22106780843'UTRnovel0.35
KIRPchr2210579763Missense_MutationNAR174Q0.15
KIRPchr2210606881Missense_MutationNAC711F0.18
LAMLchr2210647892SilentnovelG1057G0.07
LAMLchr2210573353Missense_MutationnovelF61Y0.03
LGGchr2210606825SilentNAG692G0.53
LGGchr2210660657Splice_SiteNAX1309_splice0.39
LGGchr2210605246Missense_MutationnovelG661C0.07
LGGchr2210650370Missense_MutationnovelA1138T0.11
LIHCchr22105566475'UTRnovel0.53
LIHCchr2210577467Nonsense_MutationnovelW143*0.09
LIHCchr2210663144Missense_MutationNAR1317W0.17
LIHCchr2210660510Missense_MutationnovelS1261F0.22
LIHCchr22105566075'UTRnovel0.26
LIHCchr2210594539Missense_MutationnovelK399R0.25
LIHCchr2210647950Missense_MutationNAG1077R0.26
LIHCchr2210606911Missense_MutationNAR721L0.41
LIHCchr2210590816Missense_Mutationrs148654695R286H0.42
LIHCchr2210608462Missense_MutationnovelS765N0.25
LIHCchr2210600634SilentnovelA543A0.51
LIHCchr2210591864Frame_Shift_InsnovelQ329Tfs*340.2
LUADchr2210616444Missense_MutationNAL864I0.29
LUADchr2210599536Missense_MutationNAM508I0.31
LUADchr2210616455Missense_MutationnovelI867M0.13
LUADchr2210556803Missense_Mutationrs752849933T24A0.09
LUADchr2210595551Missense_MutationnovelY443F0.16
LUADchr2210605148Missense_MutationnovelG628V0.39
LUADchr2210612288Missense_MutationnovelA855S0.25
LUADchr2210654028Missense_MutationNAH1162Y0.29
LUADchr2210637816Missense_MutationnovelK934N0.11
LUADchr2210595557Missense_MutationnovelG445V0.11
LUADchr2210640044Missense_MutationnovelG982C0.11
LUADchr2210599516Missense_MutationnovelD502H0.04
LUADchr2210582688Missense_MutationnovelL200F0.31
LUADchr2210677984Nonstop_MutationNA*1501Wext*130.27
LUADchr2210600684Missense_MutationNAK560T0.49
LUADchr22106780373'UTRnovel0.14
LUADchr2210648005Missense_MutationnovelV1095A0.1
LUADchr2210591884Missense_MutationNAA334D0.09
LUADchr2210599528Missense_MutationnovelL506M0.19
LUADchr2210595492SilentnovelS423S0.32
LUADchr2210600629Missense_MutationNAM542L0.24
LUADchr2210647970SilentNAI1083I0.38
LUADchr2210677956Missense_MutationNAR1492G0.1
LUADchr2210600560Missense_MutationnovelE519Q0.11
LUADchr2210612206SilentNAL827L0.26
LUADchr2210637730Missense_MutationnovelR906W0.35
LUADchr2210637731Missense_Mutationrs749952015R906M0.37
LUADchr2210556802SilentNAV23V0.19
LUADchr2210640028Missense_MutationNAM976I0.12
LUADchr2210606871Missense_MutationnovelM708L0.11
LUADchr2210612261Missense_Mutationrs200069420P846S0.25
LUADchr2210660502Missense_MutationNAL1258F0.19
LUADchr2210576393Missense_MutationNAT95K0.39
LUADchr2210677896Frame_Shift_Delrs755682125L1472Ffs*480.26
LUADchr2210654088Missense_MutationnovelG1182C0.26
LUADchr2210582667SilentnovelV193V0.14
LUADchr2210608367Silentrs780079490P733P0.6
LUADchr2210663156Missense_MutationNAA1321S0.11
LUADchr2210677071Missense_MutationNAH1447D0.21
LUADchr2210642498Missense_MutationnovelF992L0.25
LUADchr2210599510Missense_MutationnovelQ500K0.21
LUADchr2210677091SilentnovelR1453R0.22
LUADchr2210600585Missense_MutationnovelK527T0.07
LUADchr2210663158SilentnovelA1321A0.08
LUADchr2210648492Missense_MutationNAA1119V0.16
LUADchr2210592887Frame_Shift_DelnovelM365Ifs*210.18
LUADchr2210660645Missense_MutationNAV1306A0.24
LUADchr2210591966SilentnovelN361N0.19
LUADchr2210592888Missense_MutationnovelH366Y0.15
LUADchr2210606822Missense_MutationnovelL691F0.28
LUADchr2210650384SilentNAV1142V0.11
LUADchr2210602240Frame_Shift_DelnovelP583Qfs*20.11
LUADchr2210590174Missense_MutationNAL260F0.22
LUADchr2210582707Missense_MutationNAK207E0.17
LUADchr2210668272SilentnovelL1363L0.06
LUADchr2210668183Splice_Regionrs7798867700.48
LUADchr2210591958Missense_MutationnovelQ359K0.27
LUADchr2210590132SilentNAP246P0.2
LUADchr2210640040SilentNAG980G0.31
LUADchr2210590188Missense_MutationNAP265Q0.31
LUADchr2210590148Missense_MutationnovelT252S0.28
LUADchr2210612132Missense_MutationNAR803S0.13
LUADchr2210639999Missense_MutationNAH967N0.17
LUADchr2210663123Missense_MutationNAA1310S0.18
LUADchr2210588097Missense_MutationNAV221L0.12
LUADchr2210590851SilentNAL298L0.08
LUADchr2210590202Missense_MutationnovelL270F0.12
LUADchr2210590866Missense_MutationNAA303S0.29
LUADchr2210591904Missense_MutationnovelL341M0.2
LUADchr2210663151Missense_MutationnovelR1319M0.31
LUADchr2210579739Missense_MutationNAT166I0.07
LUADchr2210599403Missense_MutationnovelP464Q0.23
LUADchr2210594574Missense_MutationNAP411S0.2
LUADchr2210599403Missense_MutationNAP464R0.2
LUADchr2210648483Missense_MutationNAL1116P0.14
LUADchr2210668184Splice_SiteNAX1335_splice0.16
LUADchr2210660482Splice_Regionnovel0.12
LUADchr2210663128SilentnovelP1311P0.1
LUADchr2210663144SilentNAR1317R0.1
LUADchr2210677925Frame_Shift_InsnovelV1483Gfs*290.18
LUADchr2210576351Missense_MutationnovelP81Q0.2
LUADchr2210577471SilentnovelL144L0.08
LUADchr2210602284Nonsense_MutationnovelS597*0.04
LUADchr2210573300Splice_RegionNAA43A0.08
LUADchr2210591955Missense_Mutationrs149930500D358N0.42
LUADchr2210677957Missense_MutationnovelR1492M0.25
LUADchr2210599417Missense_MutationNAV469F0.19
LUADchr2210650423SilentNAA1155A0.42
LUSCchr2210577489Silentrs771266355G150G0.13
LUSCchr2210588063SilentNAV209V0.24
LUSCchr2210608559Missense_MutationnovelE797D0.28
LUSCchr2210660513Missense_Mutationrs750670270R1262Q0.17
LUSCchr2210612167SilentnovelR814R0.34
LUSCchr2210640019SilentnovelD973D0.1
LUSCchr2210668255Missense_MutationnovelP1358S0.26
LUSCchr2210654085Missense_Mutationrs759207426V1181I0.29
LUSCchr2210595529Missense_MutationnovelG436R0.11
LUSCchr2210647926Missense_Mutationrs768796044Y1069H0.27
LUSCchr2210599475Missense_MutationnovelT488N0.19
LUSCchr2210599478Missense_MutationnovelP489H0.24
LUSCchr2210582650Missense_MutationNAQ188K0.56
LUSCchr2210637806Missense_MutationNAL931R0.48
LUSCchr2210637733Missense_MutationnovelA907S0.14
LUSCchr2210616443SilentNAS863S0.35
LUSCchr2210616444Missense_MutationNAL864I0.35
LUSCchr2210650411Missense_MutationnovelF1151L0.23
LUSCchr2210639213Missense_MutationnovelQ965K0.68
LUSCchr2210637821Missense_MutationnovelN936I0.25
LUSCchr2210612271Missense_MutationNAT849K0.12
LUSCchr2210590869Missense_Mutationrs750254669A304T0.09
LUSCchr2210675772Missense_MutationnovelN1402K0.24
LUSCchr2210640045Missense_Mutationrs121912595G982V0.43
LUSCchr2210592945Missense_Mutationrs764905536I385V0.04
LUSCchr2210599453Missense_MutationnovelT481S0.46
LUSCchr2210660561Missense_MutationnovelV1278E0.26
LUSCchr2210642553Missense_MutationnovelT1010K0.57
LUSCchr2210677964Silentrs769692031Y1494Y0.42
LUSCchr2210606824Missense_MutationNAG692D0.61
LUSCchr2210612132Missense_MutationNAR803S0.43
LUSCchr2210591834SilentnovelG317G0.29
LUSCchr2210674929Missense_MutationnovelV1377M0.26
LUSCchr2210605232Missense_MutationNAM656K0.26
LUSCchr2210605233Missense_MutationNAM656I0.27
LUSCchr2210605202Missense_MutationNAT646I0.1
LUSCchr2210608366Missense_MutationNAP733L0.1
LUSCchr2210573360Missense_MutationNAH63Q0.12
LUSCchr2210595534Missense_MutationNAQ437H0.19
LUSCchr22105567245'UTRnovel0.3
LUSCchr2210605129Missense_MutationnovelV622L0.21
LUSCchr2210582647Missense_MutationNAG187C0.28
LUSCchr2210579722SilentnovelA160A0.32
LUSCchr2210648472Splice_SitenovelX1113_splice0.08
LUSCchr2210648503Missense_MutationNAD1123N0.33
LUSCchr2210600581Missense_Mutationrs775632596L526F0.39
LUSCchr2210677059Missense_MutationNAT1443A0.21
LUSCchr2210588072Nonsense_MutationnovelY212*0.12
LUSCchr2210477767Splice_SiteNAX1_splice0.19
LUSCchr2210637701Splice_SiteNAX896_splice0.16
LUSCchr2210608371Missense_MutationnovelA735S0.16
LUSCchr2210637738Missense_MutationNAK908N0.17
LUSCchr2210648004Missense_MutationNAV1095I0.29
LUSCchr2210606736Missense_MutationnovelS663A0.23
LUSCchr2210582690Missense_MutationNAI201N0.07
LUSCchr2210656586Missense_MutationNAT1207N0.29
LUSCchr2210606802Missense_MutationnovelI685F0.23
LUSCchr2210639192Missense_MutationnovelL958I0.59
LUSCchr2210605129Missense_MutationNAV622L0.1
LUSCchr2210599458SilentNAV482V0.24
LUSCchr2210677931SilentnovelV1483V0.28
LUSCchr2210582655SilentnovelP189P0.63
LUSCchr2210660616Missense_MutationNAL1296F0.19
LUSCchr2210677015Missense_MutationnovelR1428T0.15
LUSCchr2210608474Missense_MutationnovelM769T0.26
LUSCchr2210640053Missense_MutationnovelH985D0.14
LUSCchr2210602280Missense_MutationnovelG596C0.17
LUSCchr2210656613Missense_MutationnovelS1216I0.16
LUSCchr2210606774Silentrs143913650A675A0.13
LUSCchr2210606940Missense_MutationNAG731C0.38
LUSCchr2210647966Missense_MutationNAQ1082P0.31
LUSCchr2210637707Missense_MutationNAS898C0.18
LUSCchr2210677040SilentnovelI1436I0.2
LUSCchr2210677965Missense_MutationnovelS1495C0.21
LUSCchr2210650421Missense_MutationNAA1155S0.07
LUSCchr2210595491Missense_MutationNAS423F0.17
LUSCchr2210556769Missense_MutationnovelR12S0.12
LUSCchr2210647927Missense_MutationnovelY1069F0.07
OVchr2210612265Missense_MutationNAS847T0.57
OVchr2210612260Missense_MutationnovelE845D0.03
OVchr2210599514Missense_MutationNAP501L0.54
OVchr2210668230SilentnovelA1349A0.31
OVchr2210677978Nonsense_MutationnovelA1500Ffs*60.14
OVchr2210602211Missense_MutationNAA573S0.3
OVchr2210608477Missense_MutationnovelV770A0.06
OVchr2210599442Missense_MutationnovelK477M0.04
OVchr22105567205'UTRnovel0.45
OVchr2210576491Splice_SiteNAX127_splice0.37
OVchr2210556836Missense_MutationNAG35S0.31
OVchr2210591938Frame_Shift_DelNAF353Lfs*20.61
OVchr2210576391SilentNAL94L0.43
OVchr2210577425Nonsense_MutationnovelS129*0.04
OVchr2210591862Missense_MutationnovelN327H0.09
OVchr22106780333'UTRnovel0.13
OVchr2210595520SilentNAL433L0.43
PAADchr2210590157Missense_Mutationrs756021170E255K0.22
PAADchr2210616427Missense_MutationnovelI858N0.16
PAADchr2210637767Nonsense_MutationnovelS918*0.19
PAADchr2210668284Splice_RegionnovelQ1367Q0.27
PRADchr2210590180Silentrs761172541A262A0.04
PRADchr2210640019Missense_MutationnovelD973E0.38
PRADchr2210612165Missense_Mutationrs772782772R814W0.09
PRADchr2210654034Missense_MutationnovelV1164M0.17
PRADchr2210677070SilentNAV1446V0.35
PRADchr2210573330SilentNAG53G0.35
PRADchr2210556832SilentNAR33R0.06
READchr2210637815Missense_MutationNAK934T0.25
READchr2210602244Missense_MutationnovelV584M0.3
READchr2210605162Nonsense_MutationNAE633*0.17
READchr2210556748Missense_MutationnovelL5F0.33
READchr2210602306Missense_MutationnovelE604D0.4
READchr2210608528Missense_Mutationrs571936934R787Q0.42
READchr2210612167SilentnovelR814R0.08
READchr2210648472Splice_SitenovelX1113_splice0.42
READchr2210654067Nonsense_MutationnovelE1175*0.4
READchr2210660557Missense_MutationnovelD1277Y0.4
READchr2210658615Missense_Mutationrs778117194R1228Q0.43
SARCchr2210660512Nonsense_MutationNAR1262*0.38
SARCchr2210675769Missense_MutationnovelN1401K0.11
SKCMchr2210677036Missense_MutationnovelV1435A0.19
SKCMchr2210595512Missense_MutationNAS430L0.39
SKCMchr2210677111Missense_MutationnovelG1460E0.67
SKCMchr2210582672Missense_MutationNAP195Q0.25
SKCMchr2210577502Missense_MutationnovelE155K0.43
SKCMchr2210637830Missense_MutationnovelP939L0.36
SKCMchr2210660632Missense_MutationNAP1302S0.29
SKCMchr2210608448SilentNAA760A0.4
SKCMchr2210602295Missense_MutationnovelP601S0.36
SKCMchr2210654067Missense_MutationnovelE1175K0.29
SKCMchr2210677949SilentNAF1489F0.27
SKCMchr2210573392Missense_MutationNAN74I0.18
SKCMchr2210591955Missense_Mutationrs149930500D358N0.2
SKCMchr2210658675Missense_MutationNAG1248E0.09
SKCMchr2210677071Missense_MutationNAH1447Y0.19
SKCMchr2210647986Missense_MutationNAR1089C0.23
SKCMchr2210658628SilentnovelK1232K0.58
SKCMchr2210658629Missense_MutationnovelA1233S0.59
SKCMchr2210654065Missense_Mutationrs553145464R1174Q0.25
SKCMchr2210591902Missense_MutationnovelA340V0.39
SKCMchr2210556820Nonsense_MutationnovelW29*0.32
SKCMchr2210608436SilentnovelG756G0.28
SKCMchr2210608432Missense_MutationNAS755F0.44
SKCMchr2210608466SilentNAL766L0.2
SKCMchr2210606751Missense_MutationNAP668S0.53
SKCMchr2210647970Silentrs751008875I1083I0.17
SKCMchr2210658675Missense_MutationNAG1248E0.13
SKCMchr2210677070SilentNAV1446V0.17
SKCMchr2210606926Missense_MutationNAA726V0.34
SKCMchr2210573351SilentNAS60S0.09
SKCMchr2210648522Missense_MutationNAR1129K0.05
SKCMchr2210677923Missense_Mutationrs138125466R1481C0.05
SKCMchr2210588079Missense_MutationNAG215R0.25
SKCMchr2210595512Missense_MutationNAS430L0.21
SKCMchr2210677006Splice_SiteNAX1425_splice0.35
SKCMchr2210606862Missense_MutationNAP705S0.15
SKCMchr2210663136Missense_MutationNAS1314F0.21
SKCMchr2210573392Missense_MutationNAN74I0.42
SKCMchr2210592908Silentrs200465544F372F0.45
SKCMchr2210675832SilentNAS1422S0.13
SKCMchr2210668210Missense_MutationNAH1343Y0.1
SKCMchr2210650394Missense_MutationnovelD1146N0.21
SKCMchr2210616450Missense_MutationnovelE866K0.33
SKCMchr2210674922SilentnovelF1374F0.51
SKCMchr2210594558SilentNAT405T0.4
SKCMchr2210677909Missense_MutationNAA1476V0.54
SKCMchr2210606842Missense_MutationnovelN698S0.24
SKCMchr2210658659Nonsense_MutationnovelQ1243*0.18
SKCMchr2210677950Missense_MutationNAH1490Y0.71
SKCMchr2210650391Missense_MutationNAE1145K0.4
SKCMchr22105566515'UTRnovel0.56
SKCMchr2210647986Missense_MutationNAR1089C0.42
SKCMchr2210660573Missense_MutationNAV1282E0.28
SKCMchr2210590894Missense_MutationNAS312F0.33
SKCMchr2210590895SilentnovelS312S0.33
STADchr2210675763Silentrs548201746N1399N0.19
STADchr2210677897Missense_MutationNAL1472R0.31
STADchr2210576392Missense_MutationnovelT95A0.15
STADchr2210599504Missense_MutationNAA498T0.4
STADchr2210599559Missense_MutationnovelC516F0.07
STADchr2210577439SilentNAL134L0.26
STADchr2210600648Missense_MutationNAQ548P0.09
STADchr2210637776Missense_MutationnovelL921R0.41
STADchr2210606764Missense_MutationNAL672P0.27
STADchr2210675763Silentrs548201746N1399N0.32
STADchr2210602254Missense_MutationNAR587H0.23
STADchr2210647930Missense_MutationNAK1070R0.28
STADchr22105566925'UTRnovel0.4
STADchr2210602217Missense_MutationNAK575Q0.29
STADchr2210606815Missense_Mutationrs201256385R689H0.38
STADchr2210642541Missense_MutationNAL1006R0.15
STADchr2210599455SilentnovelT481T0.26
STADchr2210600587Nonsense_MutationnovelE528*0.07
STADchr2210674912Missense_Mutationrs765106604R1371Q0.48
STADchr2210600673SilentNAE556E0.34
STADchr2210605155Missense_MutationNAK630N0.2
STADchr2210608492Missense_Mutationrs766970243R775H0.14
STADchr2210675805SilentNAQ1413Q0.14
STADchr2210647970Silentrs751008875I1083I0.27
STADchr2210642513Missense_MutationNAV997F0.34
STADchr2210606814Missense_Mutationrs147443001R689C0.34
STADchr2210608426Missense_MutationNAV753A0.05
STADchr2210637748Missense_MutationNAF912I0.17
STADchr2210647907Missense_MutationNAN1062K0.21
THCAchr2210592879Missense_MutationnovelG363R0.29
THCAchr2210592880Missense_MutationnovelG363E0.3
THCAchr2210612278Frame_Shift_InsnovelY852Ffs*350.05
THCAchr2210612280Nonsense_MutationnovelY852delins*0.05
UCECchr2210605177Nonsense_Mutationrs759201450R638*0.28
UCECchr2210647986Missense_MutationNAR1089C0.36
UCECchr2210647987Missense_MutationNAR1089H0.33
UCECchr2210605218Missense_MutationNAE651D0.25
UCECchr2210637724Missense_MutationNAL904M0.26
UCECchr2210658665Missense_MutationNAL1245I0.2
UCECchr2210674911Missense_Mutationrs373056604R1371W0.33
UCECchr2210602330Missense_MutationnovelK612N0.37
UCECchr2210608532SilentnovelI788I0.33
UCECchr2210650393Missense_MutationnovelE1145D0.33
UCECchr2210608393Missense_MutationnovelA742V0.43
UCECchr2210599461Nonsense_MutationNAY483*0.26
UCECchr2210639180Missense_Mutationrs756163174V954L0.46
UCECchr2210660535Missense_MutationNAK1269N0.43
UCECchr2210677089Missense_MutationNAR1453W0.45
UCECchr2210648534Missense_MutationNAV1133A0.06
UCECchr2210660640Frame_Shift_InsnovelY1305Rfs*90.05
UCECchr2210642553Missense_Mutationrs79627159T1010M0.45
UCECchr2210639996Missense_MutationNAE966K0.25
UCECchr2210650434Missense_MutationnovelS1159Y0.25
UCECchr2210588134Missense_Mutationrs751029486R233H0.2
UCECchr2210647943SilentnovelK1074K0.07
UCECchr2210592937Missense_MutationNAP382Q0.26
UCECchr2210612239Missense_MutationNAD838E0.13
UCECchr2210637722Missense_MutationnovelT903I0.05
UCECchr2210556843Missense_MutationNAR37M0.16
UCECchr2210660640Frame_Shift_InsnovelY1305Rfs*230.04
UCECchr2210582682Missense_MutationnovelQ198H0.4
UCECchr2210654067Nonsense_MutationnovelE1175*0.26
UCECchr22104777205'UTRnovel0.06
UCECchr2210573399SilentnovelG76G0.35
UCECchr2210579762Missense_MutationNAR174W0.23
UCECchr2210605125Missense_MutationnovelI620M0.32
UCECchr2210573347Missense_MutationnovelY59C0.31
UCECchr2210591883Missense_MutationnovelA334T0.16
UCECchr2210592887Missense_MutationnovelM365I0.24
UCECchr2210582621Missense_MutationnovelT178N0.34
UCECchr2210595497Missense_MutationnovelV425A0.49
UCECchr2210599449Silentrs80261173A479A0.34
UCECchr2210612133Missense_MutationnovelR803H0.14
UCECchr2210650402Frame_Shift_InsnovelF1151Ifs*70.29
UCECchr2210600602Missense_MutationnovelV533I0.06
UCECchr2210660640In_Frame_InsnovelD1304_Y1305insR0.04
UCECchr22105566925'UTRnovel0.41
UCECchr2210599398Missense_MutationnovelM462I0.16
UCECchr22105566945'UTRnovel0.42
UCECchr2210595560Missense_MutationnovelS446F0.29
UCECchr2210677918Missense_MutationnovelK1479T0.49
UCECchr2210605229Missense_MutationNAA655V0.48
UCECchr2210612160Missense_MutationnovelA812V0.48
UCECchr2210642578Missense_MutationnovelE1018D0.4
UCECchr2210660640In_Frame_InsnovelD1304_Y1305insR0.15
UCECchr2210660641Frame_Shift_InsnovelY1305Ffs*170.14
UCECchr2210612165Missense_Mutationrs772782772R814W0.25
UCECchr2210590167Missense_MutationnovelG258V0.39
UCECchr2210590123Missense_MutationNAH243Q0.46
UCECchr2210595486Splice_SiteNAX422_splice0.44
UCECchr2210605223In_Frame_InsnovelV653_D654insIS0.11
UCECchr2210594540Missense_MutationnovelK399N0.57
UCECchr2210612231Missense_MutationnovelN836D0.35
UCECchr2210606907Frame_Shift_DelnovelS720Afs*220.22
UCECchr2210602306Missense_MutationnovelE604D0.27
UCECchr2210675760SilentnovelL1398L0.11
UCECchr2210647868Missense_MutationnovelC1049W0.32
UCECchr2210660543Missense_MutationnovelG1272E0.22
UCECchr2210660571Missense_MutationnovelK1281N0.21
UCECchr2210650437Missense_MutationnovelQ1160R0.37
UCECchr2210595541Nonsense_MutationNAE440*0.35
UCECchr2210608528Missense_Mutationrs571936934R787Q0.25
UCECchr22104777005'Flanknovel0.23
UCECchr22105566815'UTRnovel0.41
UCECchr2210573307Missense_MutationnovelA46S0.31
UCECchr2210606935Missense_MutationnovelA729D0.43
UCECchr2210582709Missense_MutationnovelK207N0.39
UCECchr2210642630Missense_MutationnovelS1036P0.35
UCECchr2210556813Frame_Shift_DelnovelK28Nfs*290.24
UCECchr2210677130Frame_Shift_DelnovelQ1468Rfs*20.5
UCECchr2210660640Frame_Shift_InsnovelY1305Rfs*240.05
UCECchr22105566725'UTRnovel0.23
UCECchr2210576389Missense_MutationnovelL94I0.04
UCECchr2210650387Missense_MutationnovelF1143L0.18
UCECchr2210675763Silentrs548201746N1399N0.4
UCECchr2210606794Missense_Mutationrs778764720R682H0.31
UCECchr2210654082Missense_Mutationrs776047286A1180T0.47
UCECchr2210616499Missense_Mutationrs188120172R882H0.28
UCECchr2210608560Splice_SitenovelX797_splice0.26
UCECchr2210599448Missense_Mutationrs187860166A479V0.21
UCECchr22104777165'UTRnovel0.38
UCECchr2210573307Missense_MutationNAA46T0.38
UCECchr2210576455Missense_MutationNAG116R0.35
UCECchr2210577505Nonsense_MutationNAE156*0.49
UCECchr2210594576Silentrs779447126P411P0.55
UCECchr2210605177Nonsense_Mutationrs759201450R638*0.53
UCECchr2210606869Nonsense_MutationnovelS707*0.19
UCECchr22106779983'UTRnovel0.13
UCECchr2210588134Missense_Mutationrs751029486R233H0.2
UCECchr2210590848Missense_MutationnovelN297D0.31
UCECchr2210600617Missense_Mutationrs761343774V538I0.17
UCECchr2210612133Missense_MutationnovelR803H0.26
UCECchr2210642568Missense_MutationnovelC1015Y0.22
UCECchr2210658607SilentnovelD1225D0.34
UCECchr2210608424Silentrs770788292N752N0.25
UCECchr2210647936Missense_MutationnovelG1072D0.05
UCECchr2210650368Missense_MutationNAS1137Y0.09
UCECchr2210668234Missense_MutationnovelL1351I0.33
UCECchr2210579762Missense_MutationNAR174W0.42
UCECchr2210606902Missense_MutationnovelR718I0.4
UCSchr2210600636Missense_Mutationrs121912592T544M0.37
UCSchr2210605122SilentnovelQ619Q0.3

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
MESODEL0.12640.014499
PAADAMP0.08150.1091
PAADDEL0.0380.2014

Survival Analysis
CancerP-value Q-value
THYM0.046

Kaplan-Meier Survival Analysis

MESO0.00018

Kaplan-Meier Survival Analysis

SKCM0.032

Kaplan-Meier Survival Analysis

PRAD0.023

Kaplan-Meier Survival Analysis

KIRP0.0056

Kaplan-Meier Survival Analysis

BLCA0.036

Kaplan-Meier Survival Analysis

CESC0.049

Kaplan-Meier Survival Analysis

READ0.011

Kaplan-Meier Survival Analysis

KICH0.0039

Kaplan-Meier Survival Analysis

UCEC0.0001

Kaplan-Meier Survival Analysis

GBM0.0063

Kaplan-Meier Survival Analysis

LIHC0.0001

Kaplan-Meier Survival Analysis

LUAD0.032

Kaplan-Meier Survival Analysis

UVM0.00011

Kaplan-Meier Survival Analysis

OV0.017

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
  • Gene Ontology
Description
Ensembl ID
ENSG00000021826 (Gene tree)
Gene ID
1373
Gene Symbol
CPS1
Alias
N
Full Name
carbamoyl-phosphate synthase 1
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Plus strand
Length
201,426 bases
Position
chr2:210,477,682-210,679,107
Accession
2323
RBP type
non-canonical RBP
Summary
The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
29431736Capturing the interactome of newly transcribed RNAPolyT-RICK & Hela2018 Feb 12Bao XDOI: 10.1038/nmeth.4595
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & Hela2018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000523702CPS1-211546-ENSP00000430644157 (aa)-E7EWJ3
ENST00000619804CPS1-2121542-ENSP00000480517513 (aa)-Q5R211
ENST00000497121CPS1-208585--- (aa)--
ENST00000479988CPS1-2074811--- (aa)--
ENST00000451903CPS1-2044770-ENSP000004061361049 (aa)-P31327
ENST00000467353CPS1-205323--- (aa)--
ENST00000233072CPS1-2015821-ENSP000002330721500 (aa)-P31327
ENST00000518043CPS1-210585-ENSP00000430697121 (aa)-C9JTA4
ENST00000497163CPS1-209443--- (aa)--
ENST00000417946CPS1-202699-ENSP00000388496121 (aa)-C9JTA4
ENST00000645825CPS1-2132180--- (aa)--
ENST00000430249CPS1-2035698-ENSP000004026081506 (aa)-P31327
ENST00000470791CPS1-206501--- (aa)--
Gene Model
Click here to download ENSG00000021826's gene model file
Pathways
Pathway IDPathway NameSource
hsa00220Arginine biosynthesisKEGG
hsa00250Alanine, aspartate and glutamate metabolismKEGG
hsa00910Nitrogen metabolismKEGG
hsa01100Metabolic pathwaysKEGG
hsa01200Carbon metabolismKEGG
hsa01230Biosynthesis of amino acidsKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000021826Potassium0.0001-
ENSG00000021826gamma-Glutamyltransferase7.753e-005-
ENSG00000021826alpha-Tocopherol2.5050000E-005-
ENSG00000021826Fibrinogen2E-1123969696
ENSG00000021826Body Mass Index7E-625673413
ENSG00000021826Amino Acids3E-1126068415
ENSG00000021826Metabolism3E-1126068415
ENSG00000021826Fibrinogen9E-1428107422
ENSG00000021826Fibrinogen2E-1328107422
ENSG00000021826Metabolism4E-1624816252
ENSG00000021826Metabolism2E-1624816252
ENSG00000021826Metabolism2E-1924816252
ENSG00000021826Metabolism3E-2124816252
ENSG00000021826Metabolism1E-2424816252
ENSG00000021826Metabolism7E-3524816252
ENSG00000021826Metabolism7E-5824816252
ENSG00000021826Body Mass Index9E-623517042
ENSG00000021826Macular Degeneration1E-1528250457
ENSG00000021826Angiography1E-826822151
ENSG00000021826Betaine1E-826822151
ENSG00000021826Metabolism2E-14724816252
ENSG00000021826Body Mass Index4E-625673413
ENSG00000021826Amino Acids1E-30027005778
ENSG00000021826Metabolism1E-30027005778
ENSG00000021826Proteins1E-30027005778
ENSG00000021826Urine3E-2526352407
ENSG00000021826Glomerular Filtration Rate1E-1127588450
ENSG00000021826Homocysteine9E-1324651765
ENSG00000021826Insulin Resistance3E-5023378610
ENSG00000021826Cholesterol, HDL9E-1024097068
ENSG00000021826Fibrinogen4E-1626561523
ENSG00000021826Urine8E-3126352407
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000021826rs10478912210675783AMean corpuscular hemoglobin27863252[0.017-0.032] unit increase0.02438928EFO_0004527
ENSG00000021826rs10478912210675783AMean corpuscular volume27863252[0.017-0.032] unit increase0.02424476EFO_0004526
ENSG00000021826rs10478912210675783AMean platelet volume27863252[0.021-0.037] unit increase0.02899955EFO_0004584
ENSG00000021826rs10478912210675783ASerum metabolite concentrations in chronic kidney disease29545352[0.31-0.48] unit increase0.394115EFO_0003884|EFO_0005653
ENSG00000021826rs10478912210675783?Alanine transaminase levels29403010[0.038-0.06] unit increase0.049EFO_0004735
ENSG00000021826rs10478912210675783AMetabolite levels (small molecules and protein measures)27005778[0.47-0.51] unit increase0.49EFO_0005664|EFO_0004747|EFO_0005134
ENSG00000021826rs74223392210675783AChronic kidney disease20383146[0.005-0.013] unit decrease0.01EFO_0003884|EFO_0004518
ENSG00000021826rs7152210678331CGlomerular filtration rate27588450[0.63-1.12] unit decrease0.876EFO_0005208
ENSG00000021826rs74223392210675783AGlomerular filtration rate in non diabetics (creatinine)26831199[0.0084-0.0128] unit decrease0.0106EFO_0005208|EFO_0004518
ENSG00000021826rs7152210678331TMetabolite levels23378610[0.53-0.69] unit decrease0.61EFO_0004471
ENSG00000021826rs7152210678331TFibrinogen23969696[0.007-0.011] unit increase0.009EFO_0004623
ENSG00000021826rs10478912210675783AHDL cholesterol24097068[NR] unit decrease0.027EFO_0004612
ENSG00000021826rs7152210678331CFibrinogen levels