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 levels26561523NR unit decrease0.0082EFO_0004623
ENSG00000021826rs7152210678331CBetaine levels in individuals undergoing cardiac evaluation26822151[0.032-0.068] unit decrease0.05EFO_0007787|EFO_0006512
ENSG00000021826rs74223392210675783AChronic kidney disease26831199[1.07-1.15]1.11EFO_0003884
ENSG00000021826rs7152210678331TAmino acid levels26068415[0.022-0.04] unit decrease0.0311EFO_0005664|EFO_0005134
ENSG00000021826rs74223392210675783AGlomerular filtration rate (creatinine)26831199[0.0086-0.0126] unit decrease0.0106EFO_0005208|EFO_0004518
ENSG00000021826rs7152210678331CUrinary metabolites26352407[NR] unit increase0.1409EFO_0005116
ENSG00000021826rs7152210678331CUrinary metabolites26352407[NR] unit increase0.176EFO_0005116
ENSG00000021826rs74223392210675783AHomocysteine levels23824729[0.071-0.102] unit increase0.0864EFO_0004578
ENSG00000021826rs124685572210630863TBody mass index in asthmatics23517042EFO_0004340
ENSG00000021826rs10478912210675783APlasma homocysteine levels (post-methionine load test)24651765[0.12-0.26] unit increase0.191EFO_0004578
ENSG00000021826rs74223392210675783AFibrinogen20031577[NR] mg/dl decrease4.84EFO_0004623
ENSG00000021826rs74223392210675783AHomocysteine levels20154341[0.03-0.07] log(Hcy) increase0.05EFO_0004578
ENSG00000021826rs74223392210675783ASerum metabolite levels24625756[NR] unit increase0.1EFO_0005653
ENSG00000021826rs7152210678331TBlood metabolite levels24816252[0.07-0.082] unit decrease0.076EFO_0005664
ENSG00000021826rs7152210678331TBlood metabolite levels24816252[0.079-0.103] unit decrease0.091EFO_0005664
ENSG00000021826rs7152210678331TBlood metabolite levels24816252[0.027-0.039] unit decrease0.033EFO_0005664
ENSG00000021826rs7152210678331TBlood metabolite levels24816252[0.037-0.053] unit decrease0.045EFO_0005664
ENSG00000021826rs7152210678331TBlood metabolite levels24816252[0.018-0.026] unit decrease0.022EFO_0005664
ENSG00000021826rs7152210678331TBlood metabolite levels24816252[0.016-0.028] unit increase0.022EFO_0005664
ENSG00000021826rs7152210678331TBlood metabolite levels24816252[0.028-0.044] unit increase0.036EFO_0005664
ENSG00000021826rs7152210678331TBlood metabolite levels24816252[0.016-0.028] unit increase0.022EFO_0005664
ENSG00000021826rs7152210678331?Creatinine levels29403010[0.027-0.047] unit increase novel0.03693EFO_0004518
ENSG00000021826rs10478912210675783?Mean corpuscular volume29403010[0.023-0.047] unit increase novel0.03507EFO_0004526
ENSG00000021826rs10478912210675783?Mean corpuscular hemoglobin29403010[0.022-0.047] unit increase novel0.0346EFO_0004527
ENSG00000021826rs10478912210675783AGlomerular filtration rate (creatinine)28452372[0.0069-0.0109] unit decrease0.0089EFO_0005208|EFO_0004518
ENSG00000021826rs7152210678331CPlateletcrit27863252[0.016-0.032] unit decrease0.02410037EFO_0007985
ENSG00000021826rs10478912210675783APlatelet count27863252[0.027-0.042] unit decrease0.03416632EFO_0004309
ENSG00000021826rs7152210678331CEosinophil percentage of granulocytes27863252[0.015-0.031] unit increase0.0230721EFO_0007996
ENSG00000021826rs7152210678331?Macular telangiectasia type 228250457[1.64-2.27]1.923077EFO_1002009
ENSG00000021826rs7152210678331?Fibrinogen levels28107422unit increase0.0092EFO_0004623
ENSG00000021826rs7152210678331?Fibrinogen levels28107422unit increase0.0082EFO_0004623
ENSG00000021826rs7152210678331CEosinophil percentage of white cells27863252[0.017-0.032] unit increase0.02420978EFO_0007991
ENSG00000021826rs10478912210675783CUrinary albumin excretion30220432[0.0085-0.0156] unit increase0.01205EFO_0004285
ENSG00000021826rs10478912210675783CUrinary albumin excretion (no hypertensive medication)30220432[0.0066-0.014] unit increase0.01031EFO_0004285
ENSG00000021826rs1870979362210498225CBlood protein levels30072576[0.58-0.98] unit increase0.781EFO_0007937
ENSG00000021826rs7152210678331?Red cell distribution width30595370EFO_0005192
ENSG00000021826rs10478912210675783?White blood cell count30595370EFO_0004308
ENSG00000021826rs10478912210675783?Systolic blood pressure30595370EFO_0006335
ENSG00000021826rs10478912210675783CSystolic blood pressure30224653[0.19-0.32] mmHg increase0.2528EFO_0006335
ENSG00000021826rs10478912210675783AEstimated glomerular filtration rate30604766[0.4-0.82] ml/min/1.73m2 decrease0.61EFO_0005208
ENSG00000021826rs10478912210675783?Fat-free mass30593698[0.1-0.2] unit increase0.15189EFO_0004995
ENSG00000021826rs10478912210675783?Fat-free mass30593698[0.12-0.27] unit increase0.19194EFO_0004995
ENSG00000021826rs10478912210675783?Fat-free mass30593698[0.13-0.22] unit increase0.17494EFO_0004995
ENSG00000021826rs7152210678331?Eosinophil counts30595370EFO_0004842
ENSG00000021826rs10478912210675783?Mean corpuscular hemoglobin30595370EFO_0004527
ENSG00000021826rs7152210678331TPlasma free amino acid levels (adjusted for twenty other PFAAs)30659259[0.64-0.8] unit increase0.72EFO_0009767|EFO_0005134
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000021826's network

* RBP PPI network refers to all genes directly bind to RBP
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0000050urea cycle1840546.NASProcess
GO:0000050urea cycle-TASProcess
GO:0004087carbamoyl-phosphate synthase (ammonia) activity6249820.EXPFunction
GO:0004087carbamoyl-phosphate synthase (ammonia) activity21873635.IBAFunction
GO:0004087carbamoyl-phosphate synthase (ammonia) activity8486760.9711878.IMPFunction
GO:0004088carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity-IEAFunction
GO:0004175endopeptidase activity-IEAFunction
GO:0005509calcium ion binding-IEAFunction
GO:0005515protein binding12620389.15161933.20618440.IPIFunction
GO:0005524ATP binding-IEAFunction
GO:0005543phospholipid binding-IEAFunction
GO:0005730nucleolus-IDAComponent
GO:0005737cytoplasm21873635.IBAComponent
GO:0005743mitochondrial inner membrane-IEAComponent
GO:0005759mitochondrial matrix-TASComponent
GO:0006207'de novo' pyrimidine nucleobase biosynthetic process-IEAProcess
GO:0006508proteolysis-IEAProcess
GO:0006526arginine biosynthetic process21873635.IBAProcess
GO:0006541glutamine metabolic process-IEAProcess
GO:0006807nitrogen compound metabolic process21873635.IBAProcess
GO:0007494midgut development-IEAProcess
GO:0010043response to zinc ion-IEAProcess
GO:0014075response to amine-IEAProcess
GO:0016595glutamate binding-IEAFunction
GO:0019240citrulline biosynthetic process14718356.NASProcess
GO:0019433triglyceride catabolic process9711878.IMPProcess
GO:0032094response to food-IEAProcess
GO:0032496response to lipopolysaccharide15897806.IDAProcess
GO:0032991protein-containing complex-IEAComponent
GO:0042311vasodilation14718356.IMPProcess
GO:0042594response to starvation-IEAProcess
GO:0042645mitochondrial nucleoid18063578.IDAComponent
GO:0043200response to amino acid-IEAProcess
GO:0044344cellular response to fibroblast growth factor stimulus-IEAProcess
GO:0044877protein-containing complex binding-IEAFunction
GO:0046209nitric oxide metabolic process14718356.IMPProcess
GO:0050667homocysteine metabolic process20031578.IDAProcess
GO:0055081anion homeostasis-IEAProcess
GO:0060416response to growth hormone-IEAProcess
GO:0070365hepatocyte differentiation-IEAProcess
GO:0070409carbamoyl phosphate biosynthetic process7416778.21120950.IMPProcess
GO:0071320cellular response to cAMP-IEAProcess
GO:0071377cellular response to glucagon stimulus-IEAProcess
GO:0071400cellular response to oleic acid-IEAProcess
GO:0071548response to dexamethasone-IEAProcess
GO:0072341modified amino acid binding20031578.IDAFunction
GO:1903718cellular response to ammonia21120950.IMPProcess
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