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
22791817Desmoplakin acts as a tumor suppressor by inhibition of the Wnt/β-catenin signaling pathway in human lung cancer.Carcinogenesis2012 OctYang Ldoi: 10.1093/carcin/bgs226
19386346Altered desmoplakin expression at transcriptional and protein levels provides prognostic information in human oropharyngeal cancer.Hum Pathol2009 SepPapagerakis Sdoi: 10.1016/j.humpath.2009.02.002

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr67579331SilentnovelA1047A0.33
BLCAchr67585730Missense_MutationNAP2823Q0.16
BLCAchr67575481Missense_Mutationrs200338012D875H0.29
BLCAchr67583128Missense_MutationnovelE1956Q0.11
BLCAchr67583088SilentNAL1942L0.34
BLCAchr67582980SilentnovelI1906I0.17
BLCAchr67583541Missense_MutationnovelI2093M0.19
BLCAchr67583901SilentnovelI2213I0.11
BLCAchr67584803Missense_MutationnovelS2514C0.26
BLCAchr67585844Missense_MutationNAS2861Y0.07
BLCAchr67579958SilentnovelL1256L0.2
BLCAchr67542063Missense_MutationNAD50N0.67
BLCAchr67585616Missense_Mutationrs781408330Y2785C0.68
BLCAchr67583611Missense_MutationNAD2117H0.21
BLCAchr67580514Nonsense_MutationnovelQ1442*0.06
BLCAchr67583080Missense_MutationNAD1940N0.11
BLCAchr67583676SilentnovelV2138V0.14
BLCAchr67584918SilentnovelL2552L0.23
BLCAchr67583867Missense_MutationNAS2202L0.41
BLCAchr67580877Missense_MutationNAL1563V0.37
BLCAchr67582681Missense_MutationnovelQ1807E0.06
BLCAchr67570482SilentnovelL540L0.65
BLCAchr67580485Missense_MutationNAQ1432P0.24
BLCAchr67566404Missense_MutationnovelE323Q0.18
BLCAchr67583512Nonsense_MutationnovelQ2084*0.27
BLCAchr67579705Frame_Shift_InsnovelR1173Ffs*30.07
BLCAchr67585085Missense_MutationnovelS2608C0.51
BLCAchr67580469Missense_MutationNAE1427K0.17
BLCAchr67580843SilentNAV1551V0.36
BLCAchr67571960Missense_MutationnovelK674N0.21
BLCAchr67579893Missense_MutationNAL1235V0.11
BLCAchr67580577Missense_MutationNAV1463I0.08
BLCAchr67567423SilentnovelL372L0.19
BLCAchr67580755Missense_MutationNAT1522R0.15
BLCAchr67581258Missense_MutationNAE1690K0.36
BLCAchr67580755Missense_MutationNAT1522K0.11
BLCAchr67559281Nonsense_Mutationrs397516943R160*0.17
BLCAchr67583327Missense_MutationnovelS2022C0.22
BLCAchr67582858Nonsense_MutationNAQ1866*0.38
BLCAchr67580240SilentnovelK1350K0.11
BLCAchr67580960Missense_MutationnovelK1590N0.27
BLCAchr67559314Missense_MutationnovelG171R0.1
BLCAchr67584841Missense_MutationnovelQ2527E0.1
BLCAchr67585276Nonsense_MutationnovelQ2672*0.12
BLCAchr67559271Missense_MutationnovelI156M0.13
BRCAchr67579479Missense_MutationNAL1097V0.14
BRCAchr67570441Missense_MutationNAE527K0.16
BRCAchr67574782Missense_MutationnovelR808L0.07
BRCAchr67583615Missense_MutationNAR2118T0.1
BRCAchr67577857Nonsense_MutationNAQ986*0.39
BRCAchr67580053Missense_MutationNAK1288T0.35
BRCAchr67582883Missense_MutationNAK1874T0.2
BRCAchr67584887Missense_MutationNAK2542M0.2
BRCAchr67583923Missense_MutationnovelE2221K0.09
BRCAchr67585865Missense_MutationnovelS2868C0.08
BRCAchr67582699Missense_MutationNAE1813Q0.44
BRCAchr67581114Missense_MutationnovelG1642S0.07
BRCAchr67583184SilentnovelK1974K0.08
BRCAchr67583635SilentNAL2125L0.14
BRCAchr67585460Missense_MutationnovelT2733K0.33
BRCAchr67583252Missense_MutationNAG1997V0.4
BRCAchr67575326Missense_Mutationrs141834182S823L0.18
BRCAchr67584352Missense_MutationNAG2364S0.32
BRCAchr67582868Frame_Shift_DelnovelY1871Gfs*50.2
BRCAchr67576419Missense_MutationNAD919V0.42
BRCAchr67583741Missense_Mutationrs146642551R2160Q0.14
BRCAchr67584636Missense_Mutationrs778068911K2458N0.13
BRCAchr67584827Missense_MutationNAR2522K0.25
BRCAchr67585504Missense_MutationNAE2748K0.17
BRCAchr67575346Missense_MutationNAT830A0.08
BRCAchr67580146Missense_Mutationrs138599871T1319I0.25
BRCAchr67567396Nonsense_MutationNAQ363*0.29
BRCAchr67580970Silentrs149463707L1594L0.07
CESCchr67566404Missense_MutationnovelE323Q0.22
CESCchr67582672Nonsense_MutationNAQ1804*0.3
CESCchr67571928Missense_MutationNAQ664E0.47
CESCchr67582816Missense_Mutationrs550818559R1852C0.33
CESCchr67583314Missense_MutationNAI2018V0.37
CESCchr67559233Missense_MutationNAQ144E0.5
CESCchr67580867Missense_MutationnovelF1559L0.33
CESCchr67581161SilentnovelL1657L0.28
CESCchr67583867Nonsense_MutationnovelS2202*0.24
CESCchr67582960Missense_Mutationrs751447598E1900K0.16
CESCchr67583541SilentNAI2093I0.32
CESCchr67576382Missense_Mutationrs749051278R907C0.33
CESCchr67581230Silentrs766078629L1680L0.89
CESCchr67580862Missense_Mutationrs777102300R1558W0.25
CESCchr67563741Missense_MutationnovelE244D0.09
CESCchr67579678Missense_MutationnovelA1163V0.44
CESCchr67580525SilentnovelQ1445Q0.67
CESCchr67583056Missense_Mutationrs748825632R1932C0.53
CESCchr67583828Missense_Mutationrs766933370R2189Q0.4
CESCchr67584385Missense_MutationNAG2375R0.18
CESCchr67577857Nonsense_MutationNAQ986*0.3
CESCchr67580318Frame_Shift_InsnovelI1377Rfs*200.75
CESCchr67562692Missense_MutationnovelS213L0.19
CESCchr67575342Missense_MutationnovelM828I0.23
CESCchr67580016Missense_MutationNAQ1276E0.27
COADchr67579774Missense_MutationNAV1195A0.29
COADchr67585419SilentNAP2719P0.43
COADchr67575371Missense_MutationnovelI838S0.09
COADchr67585062SilentnovelR2600R0.09
COADchr67555731Missense_MutationnovelM62L0.38
COADchr67579925SilentnovelE1245E0.73
COADchr67580209Missense_Mutationrs765247380R1340H0.31
COADchr67580940Missense_Mutationrs191778417A1584T0.12
COADchr67575371Missense_MutationnovelI838S0.11
COADchr67583221Missense_MutationNAD1987Y0.32
COADchr67579987Missense_MutationNAQ1266L0.4
COADchr67584113Missense_MutationNAR2284Q0.2
COADchr67584159SilentnovelG2299G0.05
COADchr67572030Missense_MutationnovelS698P0.21
COADchr67585739Missense_Mutationrs548754771R2826H0.15
COADchr67582817Missense_Mutationrs193922669R1852H0.16
COADchr67555817SilentnovelQ90Q0.42
COADchr67583384Missense_MutationNAS2041N0.08
COADchr67582816Missense_Mutationrs550818559R1852C0.26
COADchr67567836Missense_MutationNAI399T0.37
COADchr67585786Missense_Mutationrs144850908R2842C0.23
COADchr67542017Frame_Shift_InsNAT37Hfs*560.17
COADchr67584964Missense_Mutationrs139486943G2568S0.26
COADchr67571425Missense_Mutationrs756671027D582N0.45
COADchr67571424Silentrs139095230A581A0.08
COADchr67582935SilentnovelE1891E0.17
COADchr67581025Missense_MutationnovelI1612T0.06
COADchr67584323Missense_MutationnovelM2354T0.08
COADchr67585256Missense_Mutationrs151309106T2665M0.42
COADchr67565443Missense_MutationNAD288Y0.2
COADchr67582670Missense_MutationNAN1803T0.13
COADchr67584745Nonsense_MutationNAE2495*0.21
COADchr67571965Missense_Mutationrs777782794R676H0.38
COADchr67581239SilentNAE1683E0.35
COADchr67583349SilentNAY2029Y0.35
COADchr67579780Missense_MutationNAN1197S0.27
COADchr67584968Missense_MutationnovelT2569N0.11
COADchr67584340Missense_MutationNAE2360K0.25
COADchr67583629Missense_Mutationrs372242085R2123C0.28
COADchr67565388SilentNAL269L0.32
COADchr67562683Missense_MutationNAD210G0.27
COADchr67574715Frame_Shift_InsnovelY787Lfs*20.17
COADchr67583389Nonsense_MutationnovelE2043*0.07
COADchr67583390Missense_MutationnovelE2043A0.07
COADchr67585625Missense_Mutationrs748307773A2788V0.2
COADchr67580563Missense_Mutationrs370063434R1458Q0.27
DLBCchr67584721SilentnovelL2487L0.76
ESCAchr67574143Missense_MutationnovelL730I0.36
ESCAchr67583164Frame_Shift_InsnovelE1982*0.5
ESCAchr67579814Frame_Shift_InsnovelY1210*0.7
ESCAchr67583587Missense_Mutationrs397516951E2109K0.46
ESCAchr67584959Missense_MutationnovelG2566D0.19
GBMchr67580136Missense_MutationnovelA1316T0.36
GBMchr67576382Missense_Mutationrs749051278R907C0.38
GBMchr67581454Missense_MutationNAQ1755L0.3
GBMchr67565390Missense_MutationNAR270Q0.41
GBMchr67584431Missense_Mutationrs779025714I2390T0.38
GBMchr67569230Silentrs768526275N488N0.29
GBMchr67579562SilentnovelR1124R0.09
GBMchr67585763Missense_Mutationrs121912999R2834H0.23
GBMchr67584862Missense_MutationNAI2534V0.04
GBMchr675858943'UTRnovel0.11
GBMchr67575327Silentrs368945617S823S0.35
GBMchr67565390Missense_MutationNAR270Q0.16
GBMchr67584936SilentNAA2558A0.06
GBMchr67562717SilentnovelH221H0.31
GBMchr67568492Missense_MutationnovelK441T0.58
GBMchr67571510Missense_MutationnovelS610F0.3
GBMchr67580525SilentnovelQ1445Q0.29
GBMchr67583211SilentnovelC1983C0.07
GBMchr67585687Missense_MutationnovelS2809P0.6
GBMchr67575446Missense_MutationnovelL863Q0.58
GBMchr67571521Missense_Mutationrs764951792D614N0.69
GBMchr67581571Splice_SiteNAX1793_splice0.09
GBMchr67569271Missense_MutationnovelD502A0.06
GBMchr67579849Missense_MutationnovelT1220I0.05
GBMchr67575464Missense_MutationnovelR869M0.43
GBMchr67583502Silentrs757650857F2080F0.07
GBMchr67583704Missense_Mutationrs144539278A2148T0.24
GBMchr67583658SilentNAG2132G0.44
GBMchr67569253Missense_Mutationrs374283517T496M0.36
GBMchr67576338Missense_Mutationrs758592774R892H0.16
GBMchr67581567Missense_MutationNAE1793K0.27
GBMchr67584693Missense_MutationnovelM2477I0.07
HNSCchr67583380Missense_MutationnovelI2040V0.49
HNSCchr67566393Missense_MutationnovelL319P0.2
HNSCchr67581215SilentnovelV1675V0.08
HNSCchr67583286Missense_MutationnovelI2008M0.11
HNSCchr67585760Missense_MutationnovelS2833Y0.07
HNSCchr67582717Missense_MutationnovelI1819V0.41
HNSCchr67562653Missense_MutationnovelA200V0.22
HNSCchr67576360Nonsense_MutationnovelC899*0.32
HNSCchr67585800SilentnovelR2846R0.24
HNSCchr67567832Frame_Shift_InsnovelI399Hfs*320.23
HNSCchr67582789Missense_MutationnovelL1843V0.16
HNSCchr67567403Missense_Mutationrs754577019T365I0.37
HNSCchr67569299SilentnovelI511I0.29
HNSCchr67585640Missense_MutationnovelM2793T0.22
HNSCchr67585838Missense_MutationnovelS2859C0.26
HNSCchr67559281Missense_MutationNAR160G0.13
HNSCchr67566389Nonsense_MutationnovelQ318*0.14
HNSCchr67574700Missense_MutationnovelE781Q0.21
HNSCchr67571554Nonsense_MutationnovelQ625*0.66
HNSCchr67580016Nonsense_MutationnovelQ1276*0.13
HNSCchr67585385Missense_MutationnovelS2708L0.06
HNSCchr67580957Silentrs763203149C1589C0.35
HNSCchr67584374Missense_MutationnovelQ2371R0.42
HNSCchr67579698Missense_Mutationrs139582608E1170K0.36
HNSCchr67569272Missense_MutationnovelD502E0.19
HNSCchr67569231Nonsense_MutationnovelE489*0.48
HNSCchr67583995Missense_MutationnovelE2245Q0.51
HNSCchr67582866Missense_MutationnovelK1868N0.06
HNSCchr67584838Missense_MutationnovelS2526G0.2
HNSCchr67574733Missense_MutationnovelT792P0.1
HNSCchr67571945SilentnovelL669L0.05
HNSCchr67583449Missense_Mutationrs374090050R2063W0.26
KICHchr67580755Missense_Mutationrs375150075T1522M0.33
KIRCchr67582959SilentNAI1899I0.29
KIRCchr67568587Nonsense_MutationNAQ473*0.5
KIRCchr67580756SilentnovelT1522T0.25
KIRCchr67585130Frame_Shift_InsnovelF2623Lfs*190.11
KIRCchr67570555Missense_MutationNAI565V0.31
KIRCchr67583611Missense_MutationNAD2117Y0.28
KIRCchr67583785Missense_MutationnovelP2175T0.15
KIRPchr67541975SilentnovelA20A0.49
KIRPchr67584393Frame_Shift_InsnovelI2378Yfs*20.44
KIRPchr67584394Missense_MutationnovelI2378F0.44
KIRPchr67578487SilentnovelY1003Y0.47
KIRPchr67583923Missense_MutationNAE2221Q0.36
KIRPchr67562747Nonsense_MutationNAY231*0.68
KIRPchr67583356Missense_Mutationrs749307935V2032I0.28
KIRPchr67562763Frame_Shift_DelnovelI238Sfs*220.41
KIRPchr67577850SilentnovelT983T0.4
LAMLchr67581040Missense_MutationnovelQ1617L0.09
LAMLchr67584911Missense_MutationnovelG2550A0.17
LGGchr67579702Missense_Mutationrs762449180I1171T0.43
LGGchr67571984Silentrs771674559C682C0.39
LGGchr67580298Missense_MutationNAI1370F0.39
LGGchr67583121SilentNAT1953T0.48
LGGchr67569254Silentrs35820473T496T0.41
LGGchr67580630Missense_MutationnovelN1480K0.31
LGGchr67582926Frame_Shift_InsNAK1892Rfs*380.09
LGGchr67583299Missense_Mutationrs756529985R2013W0.4
LGGchr67583437Missense_MutationnovelI2059L0.11
LGGchr67583635SilentNAL2125L0.49
LGGchr67584560Missense_MutationNAC2433Y0.14
LGGchr67580817Nonsense_MutationnovelE1543*0.42
LGGchr67576382Missense_Mutationrs749051278R907C0.44
LIHCchr675416395'UTRnovel0.75
LIHCchr67571472SilentNAS597S0.25
LIHCchr67576308Missense_MutationNAE882G0.36
LIHCchr67568440Nonsense_MutationnovelE424*0.42
LIHCchr67580615SilentNAT1475T0.37
LIHCchr67579865SilentNAS1225S0.43
LIHCchr67585248SilentnovelH2662H0.26
LIHCchr67580786Missense_MutationNAE1532D0.27
LIHCchr67581423Missense_MutationNAK1745E0.22
LIHCchr67585159Missense_MutationNAI2633V0.05
LIHCchr67585224Silentrs767539050Q2654Q0.2
LIHCchr67583194Missense_Mutationrs770077556M1978V0.43
LIHCchr67579864Missense_MutationnovelS1225C0.65
LIHCchr67583577SilentnovelV2105V0.07
LIHCchr67585159Missense_MutationNAI2633V0.33
LUADchr67571993Missense_MutationNAR685S0.88
LUADchr67585231Missense_MutationnovelT2657S0.13
LUADchr67583359Missense_Mutationrs778162217E2033K0.65
LUADchr67571554Nonsense_MutationnovelQ625*0.15
LUADchr67576339SilentnovelR892R0.16
LUADchr67585539SilentNAR2759R0.15
LUADchr67583346SilentNAK2028K0.42
LUADchr67571876Nonsense_MutationNAC646*0.13
LUADchr67583300Missense_MutationnovelR2013L0.39
LUADchr67583305Missense_MutationnovelA2015T0.18
LUADchr67584819SilentnovelL2519L0.19
LUADchr67570558Missense_MutationNAA566S0.23
LUADchr67569257SilentnovelG497G0.4
LUADchr67574122Missense_MutationnovelL723F0.06
LUADchr67580706Missense_MutationNAR1506G0.2
LUADchr67585838Missense_MutationnovelS2859C0.08
LUADchr67578483Missense_MutationnovelR1002L0.33
LUADchr67582845Missense_MutationnovelQ1861H0.15
LUADchr67569304Missense_MutationNAP513H0.52
LUADchr67580420SilentNAK1410K0.44
LUADchr67583498Missense_MutationnovelD2079A0.09
LUADchr67585461SilentnovelT2733T0.93
LUADchr67565373Missense_MutationNAE264D0.35
LUADchr67584000SilentNAV2246V0.32
LUADchr67575442Nonsense_MutationnovelQ862*0.11
LUADchr67579305Missense_MutationnovelE1039Q0.93
LUADchr67580234SilentNAL1348L0.13
LUADchr67580883Missense_MutationNAE1565Q0.26
LUADchr67572044SilentNAI702I0.4
LUADchr67559328Missense_MutationnovelQ175H0.12
LUADchr67575417SilentNAL853L0.15
LUADchr67582697Missense_MutationnovelR1812T0.04
LUADchr67565479Missense_MutationnovelD300Y0.14
LUADchr67575392Missense_MutationnovelQ845P0.21
LUADchr67584351Missense_MutationnovelH2363Q0.2
LUADchr67581085Missense_MutationNAD1632V0.08
LUADchr67580995Missense_Mutationrs753652255R1602K0.2
LUADchr67581122SilentNAL1644L0.67
LUSCchr67558255Missense_MutationnovelY138C0.68
LUSCchr67578463Splice_SitenovelX996_splice0.3
LUSCchr67541985Missense_MutationNAP24S0.5
LUSCchr67580894Frame_Shift_DelnovelQ1569Kfs*40.69
LUSCchr67579900Missense_MutationnovelN1237I0.19
LUSCchr67585038Missense_MutationnovelK2592N0.13
LUSCchr67580889Nonsense_MutationnovelQ1567*0.19
LUSCchr67558252Missense_MutationnovelA137G0.13
LUSCchr67571445SilentNAQ588Q0.38
LUSCchr67569293Silentrs397516917G509G0.51
LUSCchr67565388SilentnovelL269L0.24
LUSCchr67584712Missense_MutationnovelK2484E0.14
LUSCchr67577015Missense_Mutationrs727502999I950M0.34
LUSCchr67582774Missense_Mutationrs756481791R1838C0.18
LUSCchr67585503Silentrs748231845T2747T0.15
LUSCchr67574788Missense_MutationNAG810E0.13
LUSCchr67580047Missense_MutationNAQ1286L0.21
LUSCchr67584336Silentrs766369241L2358L0.09
LUSCchr67569332SilentNAL522L0.2
LUSCchr67568537Missense_MutationnovelR456K0.18
LUSCchr67584254Missense_MutationnovelS2331C0.08
LUSCchr67584651Missense_MutationNAK2463N0.41
LUSCchr67571843Splice_RegionnovelV635V0.51
LUSCchr67585209Frame_Shift_DelnovelR2649Sfs*310.46
LUSCchr67580459SilentnovelL1423L0.22
LUSCchr67584210Nonsense_MutationnovelY2316*0.15
LUSCchr67567820Missense_MutationnovelG394W0.25
LUSCchr67572017SilentNAL693L0.3
LUSCchr67583901Missense_MutationNAI2213M0.07
LUSCchr67583149Missense_MutationnovelT1963S0.42
LUSCchr67559367SilentnovelT188T0.33
LUSCchr67565500Missense_MutationnovelQ307E0.3
LUSCchr67585016Missense_MutationNAS2585C0.12
MESOchr67576437Missense_Mutationrs139799237R925Q0.3
MESOchr67565481SilentnovelD300D0.07
OVchr67575319Missense_MutationnovelK821Q0.06
OVchr67580993Missense_MutationnovelM1601I0.07
OVchr67575438SilentNAV860V0.35
OVchr67580497Missense_MutationnovelT1436S0.03
OVchr67583469Silentrs147398792V2069V0.13
OVchr67580109Frame_Shift_InsnovelR1308Pfs*180.56
OVchr67579852Missense_MutationnovelI1221N0.07
OVchr67577868SilentNAS989S0.49
OVchr67585131Missense_MutationnovelF2623L0.16
OVchr67559224Splice_SiteNAX141_splice0.12
OVchr67584965Missense_MutationnovelG2568V0.08
OVchr67584386Missense_MutationnovelG2375A0.08
OVchr67581179SilentnovelA1663A0.17
OVchr67559362Frame_Shift_DelNAV187Gfs*30.41
OVchr67567442Missense_MutationnovelY378C0.12
OVchr67567443SilentnovelY378Y0.1
OVchr67581363Frame_Shift_InsnovelR1725Qfs*90.06
OVchr67581365In_Frame_InsnovelR1725_N1726insAHSIEI0.04
OVchr67579939Missense_MutationnovelK1250M0.08
OVchr67565431Missense_MutationnovelM284L0.11
PAADchr67571510Missense_MutationnovelS610C0.06
PAADchr67562781Splice_Siters111295218X242_splice0.19
PAADchr67565418Silentrs368051840T279T0.09
PAADchr67577813Missense_MutationnovelG971V0.08
PAADchr67579404Missense_MutationnovelF1072L0.06
PAADchr67580399SilentnovelR1403R0.2
PAADchr67582726SilentnovelL1822L0.17
PAADchr67582792Missense_MutationnovelE1844K0.17
PAADchr67584567Missense_MutationnovelK2435N0.19
PAADchr67585391Missense_MutationnovelA2710V0.16
PRADchr67578468Missense_MutationnovelA997V0.08
PRADchr67580034Frame_Shift_InsnovelH1290Lfs*30.02
PRADchr67583270Missense_MutationNAE2003G0.42
PRADchr67574788Missense_MutationNAG810E0.22
PRADchr67578495Missense_MutationnovelL1006P0.06
READchr67580209Missense_Mutationrs765247380R1340H0.37
READchr67585282Missense_Mutationrs397516961A2674T0.13
READchr67585538Missense_MutationNAR2759H0.58
READchr67583301SilentNAR2013R0.04
READchr67581408Missense_Mutationrs142885240E1740K0.34
READchr67576390Missense_MutationNAQ909H0.11
READchr67580673Missense_MutationnovelN1495D0.2
SARCchr67558137Missense_MutationnovelI99V0.42
SARCchr67569256Missense_MutationnovelG497V0.11
SKCMchr67575426Silentrs746036365F856F0.19
SKCMchr67585356SilentnovelF2698F0.48
SKCMchr67579878Missense_MutationNAD1230N0.23
SKCMchr67582858Nonsense_MutationNAQ1866*0.12
SKCMchr67580389Missense_Mutationrs748109826R1400Q0.28
SKCMchr67583394SilentNAS2044S0.16
SKCMchr67568539Missense_MutationnovelS457R0.21
SKCMchr67583070SilentnovelQ1936Q0.23
SKCMchr67585754Missense_Mutationrs761243454S2831L0.24
SKCMchr67585132Missense_MutationNAD2624N0.4
SKCMchr67579843Missense_MutationNAK1218M0.52
SKCMchr67581155SilentNAR1655R0.23
SKCMchr67580563Missense_Mutationrs370063434R1458Q0.34
SKCMchr67567840Silentrs373358969R400R0.33
SKCMchr67577824SilentnovelL975L0.15
SKCMchr67571948Missense_MutationNAM670I0.14
SKCMchr67571985Missense_Mutationrs775181391E683K0.16
SKCMchr67581020SilentNAI1610I0.11
SKCMchr67585507Missense_MutationNAE2749K0.15
SKCMchr67583090Missense_MutationNAR1943K0.1
SKCMchr67584503Missense_MutationNAG2414E0.27
SKCMchr67581125Silentrs751059120R1645R0.21
SKCMchr67582652Missense_MutationNAR1797K0.33
SKCMchr67580633SilentnovelK1481K0.35
SKCMchr67583971Missense_MutationnovelE2237K0.35
SKCMchr67579293Missense_MutationNAE1035K0.46
SKCMchr67570557Silentrs752714010I565I0.18
SKCMchr67582877Missense_MutationNAS1872F0.38
SKCMchr67585257Silentrs35379048T2665T0.36
SKCMchr67575406Missense_MutationnovelD850N0.22
SKCMchr67579430SilentnovelE1080E0.24
SKCMchr67580532Missense_MutationnovelE1448K0.29
SKCMchr67580828SilentnovelS1546S0.45
SKCMchr67581521SilentnovelR1777R0.22
SKCMchr67581522Missense_MutationNAE1778K0.23
SKCMchr67584847Missense_MutationnovelD2529N0.26
SKCMchr67565520Splice_Regionrs766580649S313S0.25
SKCMchr67576330SilentNAR889R0.32
SKCMchr67581137SilentNAR1649R0.32
SKCMchr67581317SilentNAL1709L0.12
SKCMchr67581408Missense_Mutationrs142885240E1740K0.25
SKCMchr67582652Missense_MutationNAR1797K0.27
SKCMchr67584604Missense_MutationNAE2448K0.3
SKCMchr67585110Silentrs148798300S2616S0.32
SKCMchr67585303Missense_MutationNAD2681N0.28
SKCMchr67568454SilentNAI428I0.69
SKCMchr67581420Missense_MutationNAD1744N0.16
SKCMchr67582884SilentNAK1874K0.53
SKCMchr67567449Splice_RegionNAQ380Q0.24
SKCMchr67583321Missense_MutationNAG2020E0.22
SKCMchr67576300Nonsense_MutationNAW879*0.31
SKCMchr67574098Missense_MutationNAD715N0.05
SKCMchr67583309Missense_Mutationrs771165835G2016E0.09
SKCMchr67572006Missense_MutationNAN690H0.07
SKCMchr67580810SilentNAI1540I0.52
SKCMchr67583797Missense_MutationNAK2179Q0.29
SKCMchr67585725SilentNAS2821S0.48
SKCMchr67563739Missense_Mutationrs267601117E244K0.17
SKCMchr67581067Missense_MutationnovelK1626M0.33
SKCMchr67581068SilentnovelK1626K0.33
SKCMchr67581282Missense_MutationnovelE1698K0.46
SKCMchr67582653Silentrs778745098R1797R0.23
SKCMchr67585306Nonsense_MutationnovelQ2682*0.37
SKCMchr67584096Missense_MutationNAM2278I0.24
SKCMchr67580111SilentnovelA1307A0.22
SKCMchr67583341Missense_Mutationrs762538310E2027K0.32
SKCMchr67582774Missense_Mutationrs756481791R1838C0.09
SKCMchr67579526SilentNAT1112T0.23
SKCMchr67580426SilentnovelL1412L0.17
SKCMchr67579431Missense_MutationNAE1081K0.42
SKCMchr67583320Missense_MutationNAG2020R0.38
SKCMchr67583952Silentrs145751089P2230P0.4
SKCMchr67584113Missense_MutationNAR2284Q0.21
SKCMchr67580897SilentNAQ1569Q0.43
SKCMchr67579523SilentNAI1111I0.12
SKCMchr67581144Missense_Mutationrs267601119E1652K0.17
SKCMchr67583644Nonsense_MutationnovelQ2128*0.22
SKCMchr67580563Missense_Mutationrs370063434R1458Q0.12
SKCMchr67558121SilentNAL93L0.27
SKCMchr67583394SilentNAS2044S0.34
SKCMchr67579352Silentrs531491529K1054K0.09
SKCMchr67580755Missense_MutationNAT1522R0.26
SKCMchr67580492SilentNAK1434K0.21
SKCMchr67565496Silentrs148395326I305I0.41
SKCMchr67585338SilentNAQ2692Q0.1
SKCMchr67584076Missense_MutationNAL2272F0.34
SKCMchr67581144Missense_Mutationrs267601119E1652K0.35
SKCMchr67585521SilentNAK2753K0.1
SKCMchr67585522Missense_MutationnovelG2754R0.1
SKCMchr67579654Missense_MutationNAW1155L0.31
SKCMchr67584378Silentrs185213858I2372I0.35
SKCMchr67580862Missense_Mutationrs777102300R1558W0.12
SKCMchr67580972SilentnovelL1594L0.32
SKCMchr67585774Missense_Mutationrs779102012R2838C0.27
SKCMchr67583309Missense_Mutationrs771165835G2016E0.25
SKCMchr67569284SilentNAP506P0.2
SKCMchr67575326Missense_Mutationrs141834182S823L0.24
SKCMchr67579929Nonsense_MutationNAR1247*0.28
SKCMchr67583184Missense_Mutationrs193059393K1974N0.28
SKCMchr67578535Missense_MutationNAE1019D0.25
SKCMchr67584629Missense_MutationNAS2456L0.25
SKCMchr67580757Missense_MutationNAE1523K0.23
SKCMchr67558248Missense_MutationNAD136N0.31
SKCMchr675859283'UTRnovel0.31
SKCMchr67555730Silentrs150383703T61T0.25
SKCMchr67585086SilentNAS2608S0.66
SKCMchr67585633Missense_MutationNAR2791C0.39
SKCMchr67580147SilentnovelT1319T0.55
SKCMchr67583088SilentnovelL1942L0.73
SKCMchr67584388Missense_MutationnovelG2376R0.38
SKCMchr67579399Missense_MutationNAS1070F0.19
SKCMchr67583301SilentNAR2013R0.35
SKCMchr67580295Missense_Mutationrs141805096E1369K0.41
SKCMchr67577818Missense_MutationNAE973K0.91
SKCMchr67568444Missense_Mutationrs397516916R425Q0.23
SKCMchr67572060Missense_Mutationrs773113261E708K0.26
SKCMchr67580925Missense_Mutationrs755868373R1579W0.26
SKCMchr67585052Missense_MutationNAS2597F0.23
SKCMchr67583090Missense_MutationNAR1943K0.16
SKCMchr67571515Missense_MutationNAF612L0.21
SKCMchr67565479Missense_Mutationrs759084237D300N0.13
SKCMchr67579399Missense_MutationNAS1070F0.18
SKCMchr67580154Missense_MutationNAD1322N0.15
SKCMchr67580868Nonsense_MutationNAQ1560*0.15
SKCMchr67584503Missense_MutationNAG2414V0.2
SKCMchr67584982Missense_MutationNAG2574R0.13
SKCMchr67585683Silentrs752007344S2807S0.13
SKCMchr67585620SilentNAK2786K0.77
SKCMchr67585844Missense_MutationNAS2861F0.81
SKCMchr67584021SilentNAF2253F0.3
SKCMchr67579841SilentNAT1217T0.36
SKCMchr67585102Missense_MutationNAE2614K0.36
SKCMchr67585052Missense_MutationNAS2597F0.36
SKCMchr67569185Splice_SiteNAX474_splice0.45
SKCMchr67579827Missense_MutationnovelE1213K0.14
SKCMchr67580215Nonsense_MutationNAW1342*0.09
SKCMchr67583897Missense_MutationNAG2212E0.11
SKCMchr67585844Missense_MutationNAS2861F0.21
SKCMchr67567820Missense_Mutationrs769054351G394R0.31
SKCMchr67580519SilentNAR1443R0.11
SKCMchr67583232SilentNAT1990T0.19
SKCMchr67569191SilentNAI475I0.12
SKCMchr67584405SilentnovelK2381K0.74
SKCMchr67584406Missense_MutationnovelE2382K0.74
SKCMchr67585186Missense_MutationNAV2642I0.21
SKCMchr67584021SilentNAF2253F0.26
SKCMchr67565420Missense_MutationnovelS280F0.29
SKCMchr67565421SilentnovelS280S0.29
SKCMchr67569311Silentrs747953037P515P0.52
SKCMchr67580308Missense_MutationNAT1373N0.27
SKCMchr67583745SilentNAS2161S0.23
SKCMchr67584021SilentNAF2253F0.58
SKCMchr67585523Missense_MutationNAG2754E0.3
SKCMchr67585149SilentNAE2629E0.1
SKCMchr67583897Missense_MutationNAG2212E0.27
SKCMchr67583950Missense_MutationNAP2230S0.64
SKCMchr67580810SilentNAI1540I0.23
SKCMchr67579635Missense_MutationnovelE1149K0.23
SKCMchr67585405Missense_MutationNAE2715K0.21
SKCMchr67576395Missense_Mutationrs762464083S911F0.16
SKCMchr67581551SilentNAF1787F0.06
SKCMchr67583063Missense_MutationNAR1934Q0.06
SKCMchr67583251Missense_MutationNAG1997R0.1
SKCMchr67583343SilentNAE2027E0.12
SKCMchr67583897Missense_MutationNAG2212E0.07
SKCMchr67565479Missense_Mutationrs759084237D300N0.22
SKCMchr67580125Missense_MutationNAS1312F0.65
SKCMchr67583829SilentNAR2189R0.22
SKCMchr67577861Missense_MutationNAS987F0.41
SKCMchr67569191SilentNAI475I0.07
SKCMchr67580285Silentrs768916432Q1365Q0.11
SKCMchr67585440SilentNAF2726F0.06
SKCMchr67571853Missense_MutationNAE639K0.23
SKCMchr67565430SilentNAI283I0.39
SKCMchr67579908Missense_MutationNAD1240N0.38
SKCMchr67582899SilentnovelR1879R0.38
SKCMchr67580705Silentrs193197554A1505A0.38
SKCMchr67569201Missense_MutationNAG479R0.19
SKCMchr67581173Silentrs755233649V1661V0.43
SKCMchr67585158SilentNAS2632S0.39
SKCMchr67579755Missense_MutationNAE1189K0.2
SKCMchr67583281Missense_MutationNAE2007K0.61
SKCMchr67584526Missense_MutationNAE2422K0.64
SKCMchr67583341Missense_Mutationrs762538310E2027K0.53
SKCMchr67571914Missense_MutationNAR659K0.49
SKCMchr67579841SilentNAT1217T0.15
SKCMchr67580283Nonsense_MutationnovelQ1365*0.51
SKCMchr67585405Missense_MutationNAE2715K0.21
SKCMchr67580216Nonsense_MutationnovelW1342*0.06
SKCMchr67584929Missense_Mutationrs760434412Q2556L0.16
SKCMchr67567856Missense_MutationNAD406N0.32
SKCMchr67585829Missense_MutationNAS2856C0.26
SKCMchr67583050Missense_MutationNAT1930A0.29
SKCMchr67568568SilentNAL466L0.27
SKCMchr67568587Nonsense_MutationNAQ473*0.18
SKCMchr67583118Missense_MutationnovelE1952D0.44
SKCMchr67582877Missense_MutationNAS1872F0.36
SKCMchr67579277Splice_RegionnovelL1029L0.19
SKCMchr67582895Missense_MutationnovelI1878N0.21
SKCMchr67584688Missense_MutationNAE2476K0.26
SKCMchr67585357Missense_MutationNAE2699K0.25
STADchr67569267Missense_Mutationrs368778031V501I0.35
STADchr67580398Missense_MutationNAR1403M0.39
STADchr67559235SilentnovelQ144Q0.38
STADchr67577808SilentNAT969T0.44
STADchr67581201Missense_MutationnovelE1671Q0.18
STADchr67569286Missense_MutationnovelS507F0.15
STADchr67565469Silentrs149701627Y296Y0.22
STADchr67569259Missense_Mutationrs761051181P498L0.31
STADchr67582775Missense_Mutationrs377715841R1838H0.19
STADchr67585583Missense_MutationNAL2774P0.25
STADchr67574693SilentNAL778L0.23
STADchr67583036Missense_MutationNAQ1925R0.19
STADchr67575321Missense_MutationNAK821N0.28
STADchr67583771Missense_MutationNAK2170T0.31
STADchr67585066Missense_Mutationrs745377828L2602V0.23
STADchr67555815Nonsense_MutationnovelQ90*0.4
STADchr67558150Missense_Mutationrs775015862R103Q0.39
STADchr67575455Missense_Mutationrs764965132R866H0.45
STADchr67571497Missense_Mutationrs372467697R606W0.07
STADchr67580656Missense_MutationNAL1489P0.16
STADchr67584351SilentNAH2363H0.22
STADchr67583485Missense_Mutationrs751050235R2075W0.12
STADchr67584911Missense_MutationNAG2550V0.12
STADchr67584996Silentrs28763970S2578S0.21
STADchr67583794Frame_Shift_DelnovelK2179Rfs*80.14
STADchr67559309Missense_MutationNAG169D0.13
STADchr67585767SilentNAS2835S0.3
STADchr67585540Missense_MutationNAA2760T0.2
STADchr67571499SilentnovelR606R0.16
STADchr67584262Nonsense_Mutationrs369482721R2334*0.56
STADchr67585315Missense_MutationNAA2685T0.26
STADchr67576382Missense_Mutationrs749051278R907C0.22
STADchr67580276Frame_Shift_DelnovelN1364Ifs*320.21
STADchr67584960SilentNAG2566G0.23
STADchr67580755Missense_MutationNAT1522R0.09
STADchr67582926Frame_Shift_InsNAK1892Rfs*380.22
STADchr67579691Missense_MutationNAK1167N0.25
STADchr67570558Missense_Mutationrs148147581A566T0.56
STADchr67565478Silentrs121912992S299S0.22
STADchr67579870Frame_Shift_DelnovelE1229Rfs*210.37
STADchr67583741Missense_Mutationrs146642551R2160Q0.26
STADchr67584365Missense_MutationNAL2368S0.19
STADchr67585758SilentNAG2832G0.06
STADchr67582926Frame_Shift_InsNAK1892Rfs*380.13
STADchr67580613Missense_MutationnovelT1475P0.38
STADchr67580680Missense_Mutationrs727505037R1497Q0.29
STADchr67576382Missense_Mutationrs749051278R907C0.16
STADchr67583082Silentrs763026647D1940D0.21
STADchr67584560Missense_MutationNAC2433Y0.11
STADchr67577834Missense_MutationnovelI978T0.54
THCAchr67585413Nonsense_MutationnovelW2717*0.05
UCECchr67583917Missense_Mutationrs397516953V2219I0.49
UCECchr67585177Missense_Mutationrs771553674R2639W0.43
UCECchr67559252Missense_Mutationrs587782940R150Q0.32
UCECchr67574236Missense_MutationNAD761Y0.27
UCECchr67579506Nonsense_MutationNAE1106*0.3
UCECchr67583741Missense_Mutationrs146642551R2160Q0.2
UCECchr67584098Missense_MutationNAK2279T0.35
UCECchr67569294Missense_MutationNAL510M0.41
UCECchr67581260Missense_MutationNAE1690D0.33
UCECchr67583057Missense_Mutationrs770522444R1932H0.26
UCECchr67583677Missense_MutationNAN2139H0.33
UCECchr67583799Missense_MutationnovelK2179N0.05
UCECchr67584688Nonsense_MutationNAE2476*0.28
UCECchr67585200SilentNAT2646T0.28
UCECchr67585436Missense_Mutationrs776674939R2725H0.21
UCECchr67570448Missense_MutationnovelY529C0.1
UCECchr67579506Nonsense_MutationNAE1106*0.24
UCECchr67583960Missense_MutationnovelV2233A0.1
UCECchr67585634Missense_Mutationrs749339594R2791H0.33
UCECchr67558205Silentrs748204541L121L0.43
UCECchr67567840Silentrs373358969R400R0.41
UCECchr67582898Missense_MutationnovelR1879M0.09
UCECchr67559366Missense_MutationnovelT188I0.29
UCECchr67570554SilentnovelT564T0.45
UCECchr67583551Missense_MutationnovelD2097Y0.32
UCECchr67584897SilentnovelD2545D0.45
UCECchr67585057Missense_MutationnovelV2599I0.46
UCECchr67585793Missense_MutationnovelG2844E0.57
UCECchr67568468Missense_Mutationrs752143388R433H0.27
UCECchr67562713Missense_MutationnovelS220I0.06
UCECchr67579412Silentrs772040899A1074A0.24
UCECchr67585537In_Frame_InsnovelR2759delinsPLYTFC0.07
UCECchr67576970SilentnovelS935S0.47
UCECchr67585849Missense_MutationnovelS2863P0.5
UCECchr67579292Silentrs569974617I1034I0.35
UCECchr67585110Silentrs148798300S2616S0.35
UCECchr67571926Missense_MutationnovelK663T0.42
UCECchr67574208Missense_MutationnovelQ751H0.35
UCECchr67582767Missense_MutationnovelE1835D0.16
UCECchr67585211Missense_MutationnovelL2650R0.47
UCECchr67562651Splice_SitenovelX200_splice0.41
UCECchr67562754Nonsense_MutationNAQ234*0.46
UCECchr67583309Missense_Mutationrs771165835G2016E0.59
UCECchr67579890Missense_MutationnovelN1234H0.29
UCECchr67583142Silentrs375883982T1960T0.48
UCECchr67584735Missense_MutationNAE2491D0.44
UCECchr67579412Silentrs772040899A1074A0.44
UCECchr67584375SilentnovelQ2371Q0.07
UCECchr67584636Missense_Mutationrs778068911K2458N0.12
UCECchr67574199SilentnovelG748G0.08
UCECchr67581104Silentrs750113099D1638D0.13
UCECchr67581512Missense_MutationNAQ1774H0.17
UCECchr67584080Missense_MutationNAG2273D0.23
UCECchr67585816Missense_MutationNAA2852T0.11
UCECchr67578482Missense_Mutationrs772551736R1002W0.43
UCECchr67581510Frame_Shift_InsNAE1778Gfs*40.38
UCECchr67565470Missense_Mutationrs201930322D297N0.19
UCECchr67570453Missense_MutationNAE531K0.25
UCECchr67580389Missense_Mutationrs748109826R1400Q0.27
UCECchr67583398Missense_MutationNAV2046I0.33
UCECchr67584352Missense_MutationNAG2364S0.08
UCECchr67582675Missense_MutationNAC1805R0.32
UCECchr67581383Silentrs201663619Y1731Y0.17
UCECchr67555725Missense_MutationNAG60S0.1
UCECchr67562749Missense_Mutationrs749438581R232H0.49
UCECchr67563749Missense_Mutationrs544360130A247V0.44
UCECchr67568480Missense_MutationNAN437S0.42
UCECchr67580212Missense_Mutationrs112242645R1341H0.39
UCECchr67580112Missense_Mutationrs144641271R1308W0.26
UCECchr67582664Nonsense_MutationNAS1801*0.6
UCECchr67571898Frame_Shift_InsnovelV654Dfs*100.05
UCECchr67566479Nonsense_MutationnovelE348*0.16
UCECchr67582911Silentrs760974941S1883S0.11
UCECchr67584400Missense_MutationnovelP2380T0.53
UCECchr675419065'UTRnovel0.3
UCECchr67583214SilentnovelQ1984Q0.14
UCECchr67584942Missense_MutationnovelM2560I0.35
UCECchr67568558Missense_MutationnovelL463P0.21
UCECchr67580361Missense_MutationnovelY1391H0.21
UCECchr67579741Missense_Mutationrs147909031R1184Q0.4
UCECchr67580010Missense_MutationNAA1274T0.42
UCECchr67580168Missense_MutationnovelE1326D0.3
UCECchr67582923SilentnovelK1887K0.32
UCECchr67583341Frame_Shift_InsnovelY2029Ifs*320.38
UCECchr67585642Missense_MutationnovelV2794I0.3
UCECchr67584971Missense_MutationNAS2570T0.36
UCECchr67555756Missense_MutationnovelT70N0.39
UCECchr67574191Missense_MutationnovelV746I0.48
UCECchr67579912Missense_MutationnovelR1241I0.52
UCECchr67583737Missense_MutationnovelY2159H0.59
UCECchr67585543Missense_Mutationrs376751288A2761T0.43
UCECchr67585751Missense_MutationnovelR2830H0.59
UCECchr67579997SilentnovelR1269R0.46
UCECchr67580091Nonsense_MutationNAQ1301*0.34
UCECchr67584310Missense_MutationNAL2350V0.35
UCECchr67565484SilentnovelK301K0.46
UCECchr67569221Missense_MutationnovelK485N0.42
UCECchr67583118Missense_MutationnovelE1952D0.71
UCECchr67566420Missense_MutationnovelK328T0.34
UCECchr67581338Missense_MutationnovelE1716D0.61
UCECchr67580560Missense_MutationNAM1457K0.49
UCECchr67566380Missense_Mutationrs200476515R315C0.31
UCECchr67584891Missense_MutationnovelF2543L0.34
UCECchr67576356Missense_MutationnovelF898S0.42
UCECchr675859163'UTRnovel0.31
UCECchr67562778Missense_MutationnovelL242M0.35
UCECchr67583827Missense_Mutationrs767661570R2189W0.36
UCECchr67575429SilentnovelG857G0.34
UCECchr67585799Missense_Mutationrs780766289R2846Q0.2
UCECchr67559242Missense_MutationnovelE147K0.16
UCECchr67579292Silentrs569974617I1034I0.14
UCECchr67582959SilentnovelI1899I0.16
UCECchr67583839Missense_Mutationrs397516952E2193K0.21
UCECchr67571417Missense_Mutationrs765038828T579M0.54
UCECchr67585543Missense_Mutationrs376751288A2761T0.34
UCECchr67568522Missense_Mutationrs786204294R451H0.28
UCECchr67571965Missense_Mutationrs777782794R676H0.22
UCECchr67559270Missense_MutationNAI156T0.11
UCECchr67567429Nonsense_MutationnovelE374*0.23
UCECchr67572060Missense_Mutationrs773113261E708K0.54
UCECchr67579749Nonsense_MutationnovelE1187*0.37
UCECchr67565373SilentnovelE264E0.28
UCECchr67581567Nonsense_MutationnovelE1793*0.4
UCECchr67584172Missense_MutationnovelP2304T0.34
UCECchr675859233'UTRnovel0.56
UCECchr67570476SilentNAN538N0.43
UCECchr67567363Missense_MutationnovelD352N0.3
UCECchr67571965Missense_Mutationrs777782794R676H0.56
UCECchr67574776Missense_MutationnovelA806V0.43
UCECchr67578554Missense_MutationnovelD1026Y0.53
UCECchr67584378Silentrs185213858I2372I0.44
UCECchr67585499Missense_MutationnovelS2746N0.51
UCECchr67571446Nonsense_MutationNAE589*0.18
UCECchr67580209Missense_Mutationrs765247380R1340H0.56
UCECchr67574137Missense_MutationnovelD728Y0.07
UCECchr67581408Missense_Mutationrs142885240E1740K0.07
UCECchr67583602Missense_MutationNAN2114H0.26
UCECchr67582830Missense_MutationnovelE1856D0.25
UCECchr67583199SilentnovelQ1979Q0.5
UCECchr67584056Missense_MutationnovelN2265S0.27
UCECchr67584306SilentnovelI2348I0.3
UCECchr67575472Frame_Shift_DelnovelK872Nfs*170.05
UCECchr67584360SilentNAR2366R0.28
UCECchr67584557Missense_MutationNAR2432I0.37
UCECchr67579355Missense_MutationNAN1055K0.35
UCECchr67585185Silentrs773906008I2641I0.39
UCECchr67585724Missense_Mutationrs201826850S2821L0.46
UCECchr67569318SilentnovelL518L0.45
UCECchr67579970SilentnovelI1260I0.57
UCECchr67582890Missense_MutationnovelE1876D0.3
UCECchr67584092Missense_MutationnovelA2277V0.24
UCECchr67580009SilentNAN1273N0.21
UCECchr67583451SilentNAR2063R0.2
UCECchr67585639Missense_MutationnovelM2793V0.41
UCECchr67575341Missense_MutationNAM828T0.04
UCECchr67580605Missense_MutationNAA1472V0.21
UCECchr67571446Nonsense_MutationNAE589*0.37
UCECchr67584636Missense_Mutationrs778068911K2458N0.41
UCECchr67585504Missense_MutationNAE2748K0.37
UCECchr67579841SilentNAT1217T0.26
UCECchr67581545Missense_MutationnovelE1785D0.14
UCECchr67555730Silentrs150383703T61T0.15
UCECchr67558169Silentrs750816128E109E0.53
UCECchr67568468Missense_Mutationrs752143388R433H0.19
UCECchr67577799Silentrs754665672A966A0.17
UCECchr67579767Missense_MutationnovelA1193T0.19
UCECchr67580593Missense_MutationnovelS1468Y0.55
UCECchr67581157Missense_MutationnovelR1656K0.17
UCECchr67583041Missense_Mutationrs794728104Q1927E0.13
UCECchr67583759Missense_Mutationrs771692503R2166Q0.34
UCECchr67584379Missense_Mutationrs373965771A2373T0.33
UCECchr67577000Missense_MutationNAE945D0.23
UCECchr67581186Missense_Mutationrs758312365R1666W0.28
UCECchr67579996Missense_MutationNAR1269Q0.38
UCECchr67580010Missense_MutationNAA1274T0.18
UCECchr67583751SilentnovelN2163N0.44
UCECchr67558155Nonsense_MutationNAR105*0.46
UCECchr67559321Missense_Mutationrs746702581T173I0.35
UCECchr67579293Missense_MutationNAE1035K0.44
UCECchr67580113Missense_Mutationrs184154918R1308Q0.35
UCSchr67583560Frame_Shift_DelnovelS2101Qfs*150.63
UCSchr67580810Frame_Shift_DelnovelI1540Mfs*120.26
UCSchr67585128SilentnovelI2622I0.21
UCSchr67580362Missense_Mutationrs727504547Y1391C0.38
UCSchr67585356SilentnovelF2698F0.22
UCSchr67571421SilentnovelI580I0.09

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
ACCDEL0.18890.19267
CESCDEL0.11860.046699
HNSCDEL0.12640.0011062
LIHCAMP0.37571.013e-05
LUSCDEL0.20560.00029978
PAADDEL0.29890.00010152
PRADDEL0.06710.059223
SARCDEL0.25290.014376
SKCMAMP0.53136.548e-09
UVMAMP0.552.0409e-06

Survival Analysis
CancerP-value Q-value
KIRC0.00078

Kaplan-Meier Survival Analysis

MESO0.019

Kaplan-Meier Survival Analysis

SKCM0.0026

Kaplan-Meier Survival Analysis

PRAD0.031

Kaplan-Meier Survival Analysis

BLCA0.0011

Kaplan-Meier Survival Analysis

READ0.00055

Kaplan-Meier Survival Analysis

UCEC0.021

Kaplan-Meier Survival Analysis

LIHC0.018

Kaplan-Meier Survival Analysis

LUAD0.028

Kaplan-Meier Survival Analysis

Drugs

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Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742

  • Description
  • RBPome
  • Literatures
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000096696 (Gene tree)
Gene ID
1832
Gene Symbol
DSP
Alias
KPPS2|PPKS2|DPI|DPII
Full Name
desmoplakin
Gene Type
protein_coding
Species
Homo_sapiens
Status
confidence
Strand
Plus strand
Length
45,143 bases
Position
chr6:7,541,575-7,586,717
Accession
3052
RBP type
non-canonical RBP
Summary
This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
RNA binding proteome (RBPome)
PIDTitleMethod TimeAuthorDoi
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & HEK2932019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & HEK2932018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004
22658674Insights into RNA biology from an atlas of mammalian mRNA-binding proteinsRIC & Hela2012 May 31Castello ADOI: 10.1016/j.cell.2012.04.031
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & Hela2018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & MCF10A2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
30528433The Human RNA-Binding Proteome and Its Dynamics during Translational ArrestXRNAX & MCF72018 Dec 6Trendel JDOI: 10.1016/j.cell.2018.11.004
27453046Comprehensive Identification of RNA-Binding Domains in Human CellsRIC & Hela2016 Aug 18Castello ADOI: 10.1016/j.molcel.2016.06.029

Literatures on RNA binding capacity
PIDTitleArticle TimeAuthorDoi
31317183Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study.Eur Heart J Cardiovasc Imaging2019 Jul 16Augusto JBdoi: 10.1093/ehjci/jez188
25225333Plakophilins 1 and 3 bind to FXR1 and thereby influence the mRNA stability of desmosomal proteins.Mol Cell Biol2014 Dec 1Fischer-Keso Rdoi: 10.1128/MCB.00766-14
23582851Fragile hearts: new insights into translational control in cardiac muscle.Trends Cardiovasc Med2013 NovZarnescu DCdoi: 10.1016/j.tcm.2013.03.003
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000379802DSP-2019796-ENSP000003691292871 (aa)-P15924
ENST00000506617DSP-203754--- (aa)--
ENST00000418664DSP-2027812-ENSP000003965912272 (aa)-P15924
Gene Model
Click here to download ENSG00000096696's gene model file
Pathways
Pathway IDPathway NameSource
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000096696Platelet Function Tests3.3772000E-005-
ENSG00000096696Lung Diseases, Interstitial1.1366880E-016-
ENSG00000096696Lung Diseases, Interstitial6.4096090E-009-
ENSG00000096696Lung Diseases, Interstitial3.4108570E-007-
ENSG00000096696Heart Rate2E-727798624
ENSG00000096696Lung Diseases, Interstitial1E-1923583980
ENSG00000096696Pulmonary Disease, Chronic Obstructive4E-928166215
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000096696rs274437567554606TResting heart rate27798624[0.15-0.33] unit increase0.2403EFO_0004351
ENSG00000096696rs207629567562999GInterstitial lung disease23583980[1.32-1.55]1.43EFO_0004244
ENSG00000096696rs207629567562999GIdiopathic pulmonary fibrosis29066090[1.35-1.54]1.44EFO_0000768
ENSG00000096696rs207629567562999?Lung function (FVC)30595370EFO_0004312
ENSG00000096696rs207629567562999?Lung function (FEV1/FVC)30595370EFO_0004713
ENSG00000096696rs207629567562999TLung function (FVC)30804560[0.0086-0.0176] unit increase0.0131EFO_0004312
ENSG00000096696rs207629567562999TLung function (FEV1/FVC)30804560[0.019-0.028] unit decrease0.0234EFO_0004713
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000096696's network

* RBP PPI network refers to all genes directly bind to RBP
Orthologs identified by RBPome
Ensembl IDGene SymbolCoverageIdentiy OrthologGene SymbolCoverageIdentiy Species
ENSG00000096696DSP9994.963ENSMUSG00000054889Dsp9995.007Mus_musculus
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0001533cornified envelope10908733.IDAComponent
GO:0001533cornified envelope-TASComponent
GO:0002934desmosome organization16917092.ISSProcess
GO:0003223ventricular compact myocardium morphogenesis16917092.ISSProcess
GO:0003723RNA binding22658674.HDAFunction
GO:0005080protein kinase C binding18474624.IPIFunction
GO:0005198structural molecule activity21873635.IBAFunction
GO:0005198structural molecule activity10908733.IDAFunction
GO:0005200structural constituent of cytoskeleton9887343.TASFunction
GO:0005515protein binding10852826.12482924.16917092.21062920.25225338.IPIFunction
GO:0005634nucleus21630459.HDAComponent
GO:0005737cytoplasm21873635.IBAComponent
GO:0005882intermediate filament21873635.IBAComponent
GO:0005882intermediate filament16917092.ISSComponent
GO:0005886plasma membrane21873635.IBAComponent
GO:0005886plasma membrane16917092.20859650.IDAComponent
GO:0005886plasma membrane-TASComponent
GO:0005916fascia adherens-IEAComponent
GO:0008544epidermis development9887343.TASProcess
GO:0014704intercalated disc21873635.IBAComponent
GO:0014704intercalated disc22781308.22889254.23381804.IDAComponent
GO:0014704intercalated disc-ISSComponent
GO:0016020membrane21873635.IBAComponent
GO:0016323basolateral plasma membrane-IEAComponent
GO:0018149peptide cross-linking10908733.IDAProcess
GO:0030057desmosome-IEAComponent
GO:0030216keratinocyte differentiation10908733.IDAProcess
GO:0030674protein binding, bridging10908733.IDAFunction
GO:0031424keratinization-TASProcess
GO:0034332adherens junction organization-IEAProcess
GO:0042060wound healing21873635.IBAProcess
GO:0043312neutrophil degranulation-TASProcess
GO:0043588skin development21873635.IBAProcess
GO:0045104intermediate filament cytoskeleton organization21873635.IBAProcess
GO:0045109intermediate filament organization16917092.ISSProcess
GO:0050839cell adhesion molecule binding-IEAFunction
GO:0070062extracellular exosome19056867.19199708.20458337.HDAComponent
GO:0070268cornification-TASProcess
GO:0071896protein localization to adherens junction16917092.ISSProcess
GO:0086073bundle of His cell-Purkinje myocyte adhesion involved in cell communication12373648.IMPProcess
GO:0086083cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication12373648.ICFunction
GO:0086091regulation of heart rate by cardiac conduction12373648.IMPProcess
GO:0097110scaffold protein binding10852826.IPIFunction
GO:0098609cell-cell adhesion21873635.IBAProcess
GO:0098911regulation of ventricular cardiac muscle cell action potential12373648.IMPProcess
GO:0101003ficolin-1-rich granule membrane-TASComponent
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