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
21478912Loss of AF6/afadin, a marker of poor outcome in breast cancer, induces cell migration, invasiveness and tumor growth.Oncogene2011 Sep 8Fournier Gdoi: 10.1038/onc.2011.106
27601590Genome-Wide miRNA Analysis Identifies miR-188-3p as a Novel Prognostic Marker and Molecular Factor Involved in Colorectal Carcinogenesis.Clin Cancer Res2017 Mar 1Pichler Mdoi: 10.1158/1078-0432.CCR-16-0497
26013125Loss of polarity protein AF6 promotes pancreatic cancer metastasis by inducing Snail expression.Nat Commun2015 May 26Xu Ydoi: 10.1038/ncomms8184.
16819513Correlated break at PARK2/FRA6E and loss of AF-6/Afadin protein expression are associated with poor outcome in breast cancer.Oncogene2007 Jan 11Letessier A-
24373847Disrupted interaction between CFTR and AF-6/afadin aggravates malignant phenotypes of colon cancer.Biochim Biophys Acta2014 MarSun TT-
29159771CLDN6 enhances chemoresistance to ADM via AF-6/ERKs pathway in TNBC cell line MDAMB231.Mol Cell Biochem2018 JunYang Mdoi: 10.1007/s11010-017-3221-8

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr61678262865'Flanknovel0.08
BLCAchr61678259345'Flankrs7557164510.16
BLCAchr6167907196Missense_MutationnovelR559K0.43
BLCAchr6167946881Missense_Mutationrs766388839R1171H0.28
BLCAchr6167917101Frame_Shift_InsnovelT854Yfs*40.23
BLCAchr6167872284Nonsense_MutationNAS162*0.18
BLCAchr6167951904Missense_MutationNAS1510N0.35
BLCAchr61678257215'Flankrs7641179450.11
BLCAchr61678265015'Flankrs7685524560.5
BLCAchr6167952239Intronnovel0.13
BLCAchr61678256645'Flanknovel0.48
BLCAchr6167943961Missense_MutationNAR1080T0.27
BLCAchr61678257405'Flanknovel0.22
BLCAchr61678265535'Flanknovel0.24
BLCAchr6167952107Missense_Mutationrs201932853E1578K0.12
BLCAchr6167918841Missense_Mutationrs201634310P932L0.48
BLCAchr61678261575'Flanknovel0.23
BLCAchr6167898278Missense_MutationnovelR464T0.55
BLCAchr61678256585'Flanknovel0.36
BLCAchr6167889284Missense_MutationnovelE323K0.26
BLCAchr6167918906Missense_Mutationrs754362514E954Q0.31
BLCAchr6167951906Missense_Mutationrs141139097L1511V0.22
BLCAchr6167969864Nonsense_MutationnovelQ1802*0.28
BLCAchr61678259945'Flanknovel0.07
BLCAchr6167864650Missense_MutationnovelQ69E0.52
BLCAchr6167925087Frame_Shift_DelnovelA1025Efs*90.18
BLCAchr6167952184Silentrs374331983A1603A0.22
BLCAchr6167951906Silentrs141139097L1511L0.43
BLCAchr6167915312Missense_Mutationrs139174764S808L0.15
BLCAchr61678261175'Flankrs7683117710.19
BRCAchr6167952063Missense_MutationNAE1563G0.53
BRCAchr6167969137Missense_MutationNAT1754S0.18
BRCAchr6167962763Intronnovel0.12
BRCAchr6167947904Missense_Mutationrs765437330A1195V0.12
BRCAchr6167962640Intronnovel0.17
BRCAchr6167907211Missense_MutationNAS564C0.22
BRCAchr6167962469Missense_MutationNAE1617Q0.13
BRCAchr6167951214Missense_Mutationrs140509375R1280Q0.2
BRCAchr6167911344Missense_MutationNAK631T0.37
BRCAchr6167911415Nonsense_MutationnovelS655Kfs*20.2
BRCAchr61678260835'Flanknovel0.52
BRCAchr6167943128Splice_SitenovelX1027_splice0.64
BRCAchr6167951574Missense_Mutationrs571941763P1400L0.37
BRCAchr6167951904Missense_MutationNAS1510N0.59
BRCAchr6167889294Nonsense_MutationNAL326*0.29
BRCAchr6167889284Frame_Shift_InsnovelE323Gfs*240.25
BRCAchr6167907228Nonsense_MutationnovelG570*0.48
BRCAchr6167907242SilentnovelP574P0.21
BRCAchr6167947927Missense_MutationNAG1203R0.18
BRCAchr6167907163Splice_SitenovelX551_splice0.82
BRCAchr6167914686Missense_MutationnovelM742I0.12
BRCAchr61678259585'Flankrs7634547670.13
BRCAchr61678260355'Flanknovel0.2
BRCAchr6167918871Missense_MutationNAC942F0.33
BRCAchr6167911402Nonsense_MutationNAY650*0.27
BRCAchr61679760733'Flanknovel0.31
BRCAchr6167946743In_Frame_DelnovelS1126_E1130del0.17
BRCAchr61678261325'Flanknovel0.45
BRCAchr6167952079Missense_MutationNAK1568N0.21
CESCchr6167951941SilentnovelE1522E0.19
CESCchr6167962478Missense_MutationNAR1620C0.17
CESCchr6167907222Missense_MutationNAE568K0.18
CESCchr6167951299SilentNAQ1308Q0.17
CESCchr61679717873'Flanknovel0.42
CESCchr6167918744Missense_MutationnovelE900K0.25
CESCchr6167911372Missense_MutationnovelM640I0.34
CESCchr6167918841Missense_Mutationrs201634310P932L0.39
CESCchr6167951849Missense_Mutationrs748333996R1492C0.28
CESCchr61679760913'Flanknovel0.14
CESCchr6167870475Missense_MutationnovelE131K0.32
CESCchr6167946721Missense_MutationnovelG1118C0.38
CESCchr6167913547Intronnovel0.29
CESCchr6167872331Nonsense_MutationNAR178*0.22
CESCchr6167969819Missense_MutationNAE1787K0.17
CESCchr61678266905'FlankNA0.31
CESCchr6167951612Missense_MutationNAE1413Q0.66
CESCchr6167872309SilentNAK170K0.47
CESCchr6167948476Missense_MutationnovelQ1270E0.32
CESCchr61678267505'FlankNA0.29
CHOLchr6167907206SilentnovelS562S0.39
CHOLchr6167947907Missense_MutationnovelK1196T0.47
CHOLchr6167907203SilentnovelS561S0.1
CHOLchr6167889252Missense_MutationnovelK312R0.08
COADchr6167962693Intronnovel0.47
COADchr61679763643'Flanknovel0.06
COADchr61679765913'Flanknovel0.01
COADchr61679768033'Flanknovel0.17
COADchr61678262495'Flanknovel0.43
COADchr61678260425'Flankrs7571805200.2
COADchr6167952176Nonsense_MutationNAR1601*0.19
COADchr6167969111Splice_RegionNA0.42
COADchr6167946894Silentrs367706314N1175N0.28
COADchr6167870469In_Frame_DelNAK129del0.43
COADchr6167951195Missense_Mutationrs768477295R1274C0.27
COADchr6167951849Missense_Mutationrs748333996R1492C0.33
COADchr61679769213'Flanknovel0.53
COADchr6167911419Missense_MutationNAP656H0.34
COADchr61678265535'Flanknovel0.46
COADchr6167893861Splice_SiteNAX393_splice0.38
COADchr6167952197IntronNA0.05
COADchr6167952209Intronnovel0.31
COADchr6167962858Intronrs5373142050.44
COADchr6167951841Missense_MutationNAT1489M0.35
COADchr61679760253'Flankrs5277447010.26
COADchr6167864683Nonsense_Mutationrs778113186R80*0.4
COADchr6167925049Frame_Shift_DelNAK1014Sfs*200.34
COADchr61678263585'Flanknovel0.07
COADchr6167925049Frame_Shift_DelNAK1014Sfs*200.15
COADchr6167951473Silentrs766768344P1366P0.36
COADchr6167911101Splice_RegionnovelR590R0.05
COADchr6167943408Missense_MutationNAR1051C0.13
COADchr6167875486Missense_MutationNAP244S0.44
COADchr6167952116Missense_Mutationrs776910572E1581K0.53
COADchr6167898361Frame_Shift_DelNAA493Rfs*250.3
COADchr6167951477Frame_Shift_DelNAP1369Rfs*290.38
COADchr6167864676Missense_MutationNAE77D0.09
COADchr6167872322Nonsense_MutationNAE175*0.13
COADchr6167890865Missense_MutationNAI338S0.09
COADchr6167951247Missense_Mutationrs759864399R1291Q0.13
COADchr6167880376Missense_MutationNAI252M0.35
COADchr61679763993'Flanknovel0.34
COADchr6167948429Frame_Shift_DelNAK1255Sfs*380.26
COADchr6167898419Missense_MutationnovelR511I0.04
COADchr61679763533'Flanknovel0.06
COADchr6167922882Missense_Mutationrs778409493R972C0.37
COADchr6167951648Missense_Mutationrs754436231R1425C0.46
COADchr6167911590Intronnovel0.33
DLBCchr6167969192Missense_MutationnovelS1772F0.33
ESCAchr61678264675'Flanknovel0.08
ESCAchr6167946894Silentrs367706314N1175N0.07
ESCAchr6167952184Silentrs374331983A1603A0.33
ESCAchr6167875461Missense_MutationnovelQ235H0.47
ESCAchr61679766593'Flanknovel0.22
ESCAchr6167922878SilentnovelH970H0.38
ESCAchr61678266905'Flanknovel0.59
GBMchr6167943439Missense_MutationnovelV1061A0.08
GBMchr6167943982Frame_Shift_DelnovelL1087Rfs*30.06
GBMchr61678257655'Flanknovel0.07
GBMchr6167943157Missense_MutationNAY1036C0.33
GBMchr61678257805'Flanknovel0.35
GBMchr61678257825'Flanknovel0.34
GBMchr61678256535'Flanknovel0.76
GBMchr6167915302Missense_Mutationrs775055966D805N0.6
GBMchr6167925045Missense_MutationnovelT1011I0.26
GBMchr6167951462Missense_MutationnovelD1363Y0.56
GBMchr6167948300Missense_Mutationrs145954704T1211M0.62
GBMchr6167914717Missense_MutationnovelS753R0.2
GBMchr6167962705Intronnovel0.12
HNSCchr6167965803Missense_MutationnovelR1665H0.31
HNSCchr61678259135'Flanknovel0.09
HNSCchr6167880467Missense_MutationnovelE283Q0.08
HNSCchr61678255255'Flanknovel0.25
HNSCchr6167864626Missense_Mutationrs770846848R61W0.24
HNSCchr6167943948Missense_MutationnovelE1076K0.45
HNSCchr6167918785SilentnovelL913L0.2
HNSCchr6167951855Missense_MutationnovelD1494N0.22
HNSCchr6167951237Nonsense_MutationnovelE1288*0.09
HNSCchr6167951812SilentnovelR1479R0.09
HNSCchr6167864621Nonsense_MutationnovelI60Ffs*60.04
HNSCchr6167864564Missense_MutationnovelH40R0.31
HNSCchr61678256715'Flanknovel0.15
HNSCchr6167952131Missense_Mutationrs764193158D1586N0.13
HNSCchr61678257925'Flanknovel0.21
HNSCchr6167875475Nonsense_MutationnovelS240*0.14
HNSCchr6167915319SilentnovelL810L0.08
HNSCchr6167946744Missense_MutationnovelK1125N0.32
KIRCchr6167943400Splice_SiteNAX1049_splice0.3
KIRCchr61678258885'Flanknovel0.27
KIRCchr6167948413Missense_MutationNAW1249G0.25
KIRCchr6167962520Missense_Mutationrs781720897R1634C0.21
KIRCchr6167943967Missense_MutationNAS1082I0.2
KIRCchr6167896919Nonsense_MutationNAQ422*0.25
KIRCchr6167914704Missense_MutationnovelD748E0.22
KIRPchr61678259635'Flanknovel0.47
KIRPchr6167948429Missense_MutationNAE1254V0.48
KIRPchr6167875347SilentnovelR197R0.31
KIRPchr61679767823'Flankrs5379483720.31
KIRPchr6167943412Missense_MutationNAL1052Q0.43
KIRPchr6167911494Splice_Regionnovel0.4
KIRPchr6167946833Missense_MutationnovelK1155R0.23
KIRPchr6167946863Missense_MutationNAK1165T0.76
LAMLchr6167951625Missense_Mutationrs779545868R1417H0.39
LAMLchr6167951379Missense_MutationnovelL1335R0.5
LGGchr6167875413Missense_MutationnovelE219D0.08
LGGchr6167880512Missense_MutationNAA298T0.1
LGGchr6167911135Missense_MutationnovelP602S0.2
LIHCchr6167872302Frame_Shift_DelNAK170Rfs*530.55
LIHCchr6167951542SilentNAP1389P0.1
LIHCchr6167965987SilentnovelF1726F0.54
LIHCchr6167951846Nonsense_MutationnovelE1491*0.67
LIHCchr6167965935Missense_MutationnovelQ1709L0.41
LIHCchr6167914259Missense_Mutationrs149079362R710Q0.45
LIHCchr6167918765Nonsense_MutationnovelE907*0.91
LUADchr61678262805'Flankrs3716056170.39
LUADchr6167948390Missense_MutationnovelR1241L0.38
LUADchr6167875374Missense_MutationNAM206I0.26
LUADchr6167898268Missense_MutationnovelV461L0.3
LUADchr6167898406Missense_MutationNAA507T0.13
LUADchr6167872233Missense_MutationNAP145H0.2
LUADchr6167962813Intronnovel0.4
LUADchr6167943945Missense_MutationNAA1075T0.08
LUADchr6167951575SilentNAP1400P0.26
LUADchr6167875351Missense_MutationNAA199S0.6
LUADchr61678255915'Flanknovel0.3
LUADchr6167951600Missense_Mutationrs144643489R1409W0.25
LUADchr6167880433SilentnovelT271T0.24
LUADchr6167952200Intronnovel0.35
LUADchr6167952081Missense_MutationnovelR1569K0.17
LUADchr6167870484Missense_MutationnovelA134S0.85
LUSCchr61678256875'Flanknovel0.06
LUSCchr61678260975'Flanknovel0.44
LUSCchr61678264225'Flanknovel0.09
LUSCchr6167951230Nonsense_MutationnovelY1285*0.15
LUSCchr6167915350Nonsense_MutationnovelQ821*0.31
LUSCchr6167951352Missense_MutationnovelS1326F0.11
LUSCchr6167898406Missense_MutationnovelA507S0.3
LUSCchr6167898365Missense_Mutationrs756833549A493V0.09
LUSCchr6167969189Missense_Mutationrs759403576R1771H0.17
LUSCchr6167946718Missense_Mutationrs756198307R1117C0.14
LUSCchr6167917226Silentrs373339327I894I0.33
LUSCchr6167969828Missense_MutationnovelT1790P0.28
LUSCchr6167952025Missense_MutationNAS1550R0.24
LUSCchr6167948423Missense_MutationnovelY1252C0.22
LUSCchr61678262225'Flanknovel0.36
LUSCchr6167951295Missense_MutationnovelN1307S0.27
LUSCchr6167880517Splice_RegionnovelR299R0.21
LUSCchr6167917140Missense_MutationnovelI866V0.06
LUSCchr6167948308Missense_MutationnovelP1214S0.28
LUSCchr6167911307Missense_MutationNAI619V0.36
LUSCchr6167872343Missense_MutationnovelD182N0.06
LUSCchr6167952019SilentNAD1548D0.36
LUSCchr6167962640Intronnovel0.08
LUSCchr6167880418Frame_Shift_InsnovelL267Cfs*170.05
LUSCchr61678262405'Flanknovel0.29
LUSCchr61678262225'Flanknovel0.24
LUSCchr61678264765'Flankrs7542690940.2
LUSCchr6167875468Missense_Mutationrs761986153R238W0.6
LUSCchr6167952151SilentnovelL1592L0.29
LUSCchr6167898466Nonsense_MutationnovelG527*0.27
LUSCchr6167962506Missense_MutationnovelR1629K0.15
LUSCchr6167918734Splice_SitenovelX897_splice0.62
MESOchr61679767813'Flanknovel0.23
OVchr6167951678Nonsense_MutationNAR1435*0.85
OVchr6167872251Frame_Shift_InsnovelE151Dfs*320.03
OVchr6167872253In_Frame_InsnovelG152delinsANTKKVKNAW0.03
OVchr6167947935SilentnovelL1205L0.06
OVchr6167911598Intronnovel0.19
OVchr61678260135'Flanknovel0.38
OVchr6167890968SilentnovelG372G0.11
OVchr6167951453Missense_MutationNAI1360V0.17
OVchr61678260735'Flanknovel0.22
OVchr61678262455'Flanknovel0.75
OVchr6167898465Frame_Shift_InsNA0.94
OVchr6167965908Missense_MutationnovelA1700G0.32
PAADchr61678259355'Flanknovel0.18
PAADchr6167898322Nonsense_MutationnovelE479*0.05
PAADchr6167911326Missense_MutationnovelS625I0.16
PAADchr6167951323SilentnovelT1316T0.2
PAADchr6167962520Missense_Mutationrs781720897R1634C0.17
PAADchr6167898412Frame_Shift_DelnovelA509Qfs*90.15
PCPGchr6167880512Missense_Mutationrs764123133A298S0.25
PRADchr61678262445'FlankNA0.09
PRADchr6167907230Frame_Shift_DelnovelM571Rfs*160.2
PRADchr6167896973Splice_SiteNAX439_splice0.17
PRADchr6167951825Nonsense_MutationnovelQ1484*0.14
PRADchr6167880512Missense_MutationNAA298T0.35
PRADchr6167914259Missense_Mutationrs149079362R710Q0.3
PRADchr6167915347Missense_Mutationrs780592632R820C0.34
READchr6167914702Missense_MutationnovelD748N0.26
READchr6167864576Missense_MutationNAR44I0.23
READchr6167947910Missense_MutationnovelI1197T0.16
READchr61678264135'Flankrs7672340730.14
READchr61679767813'Flanknovel0.39
READchr61679760733'Flanknovel0.4
READchr6167952012Missense_MutationNAK1546R0.16
READchr6167889219Missense_MutationnovelM301R0.07
READchr6167962817Intronrs5551538030.36
READchr6167951896SilentNAS1507S0.29
READchr61678257275'Flanknovel0.06
READchr6167864662Missense_Mutationrs747022102E73K0.43
READchr6167875468Missense_Mutationrs761986153R238W0.41
READchr6167911115Missense_MutationnovelS595Y0.39
READchr6167911441SilentnovelV663V0.48
READchr6167915302Missense_MutationnovelD805Y0.08
READchr6167951213Nonsense_MutationNAR1280*0.33
READchr6167870453Missense_MutationnovelE123D0.34
READchr6167875394Missense_Mutationrs770737214R213Q0.19
SARCchr6167965912SilentnovelP1701P0.36
SARCchr6167951891Missense_MutationnovelS1506T0.4
SKCMchr61678265115'Flanknovel0.21
SKCMchr6167911421Missense_MutationnovelT657A0.38
SKCMchr6167969173Missense_MutationnovelD1766N0.46
SKCMchr6167918777Missense_MutationnovelD911N0.32
SKCMchr6167864683Nonsense_Mutationrs778113186R80*0.45
SKCMchr6167889224Missense_MutationNAP303S0.46
SKCMchr6167951895Missense_Mutationrs796364513S1507L0.32
SKCMchr6167872270SilentNAF157F0.46
SKCMchr6167951699Missense_MutationnovelG1442S0.39
SKCMchr61678263775'Flanknovel0.19
SKCMchr6167898246SilentnovelT453T0.27
SKCMchr6167951512Silentrs114383783F1379F0.35
SKCMchr6167947928Missense_MutationNAG1203E0.41
SKCMchr6167947890SilentNAA1190A0.55
SKCMchr6167918738Missense_MutationNAL898F0.72
SKCMchr6167946901Missense_MutationNAN1178D0.88
SKCMchr6167925023Missense_MutationNAE1004K0.29
SKCMchr6167911336SilentNAV628V0.18
SKCMchr6167864653Missense_MutationNAD70N0.16
SKCMchr6167880474Missense_MutationNAY285F0.33
SKCMchr6167864683Nonsense_Mutationrs778113186R80*0.15
SKCMchr6167914269SilentnovelL713L0.16
SKCMchr6167896954SilentNAL433L0.1
SKCMchr6167951199Missense_MutationNAS1275F0.41
SKCMchr61678258095'Flanknovel0.25
SKCMchr6167951549Missense_MutationNAP1392S0.1
SKCMchr6167951932SilentNAD1519D0.32
SKCMchr6167952086Nonsense_MutationNAQ1571*0.3
SKCMchr6167951714Nonsense_MutationNAQ1447*0.48
SKCMchr6167951569Silentrs773812168G1398G0.52
SKCMchr6167951742Missense_MutationnovelP1456L0.31
SKCMchr6167951935SilentNAA1520A0.19
SKCMchr6167951258Missense_MutationnovelA1295T0.21
STADchr6167915212Missense_Mutationrs756328633R775C0.17
STADchr6167925085SilentNAA1024A0.09
STADchr6167864695Nonsense_MutationNAR84*0.18
STADchr6167872331Nonsense_MutationNAR178*0.28
STADchr6167918777Missense_MutationnovelD911N0.16
STADchr6167870449Missense_Mutationrs770826881R122Q0.33
STADchr6167951308SilentnovelS1311S0.41
STADchr6167952161Missense_MutationNAR1596C0.33
STADchr61678257335'Flanknovel0.3
STADchr61678260615'Flankrs7747257160.45
STADchr6167870484Missense_Mutationrs769754520A134T0.38
STADchr6167925049Frame_Shift_DelNAK1014Sfs*200.4
STADchr6167893862Missense_MutationNAG393E0.43
STADchr6167952238Intronnovel0.34
STADchr61678263965'Flanknovel0.23
STADchr6167962556Missense_Mutationrs150601242A1646T0.25
STADchr6167918789Missense_Mutationrs779343002R915C0.21
STADchr6167922907Missense_MutationNAY980C0.17
STADchr6167914246Nonsense_MutationnovelR706*0.37
STADchr6167969875Frame_Shift_InsnovelN1806Kfs*20.35
STADchr6167951646Missense_MutationNAA1424V0.19
STADchr6167864702Missense_MutationNAL86Q0.2
STADchr6167951743SilentNAP1456P0.25
STADchr6167969876Missense_Mutationrs771118698N1806D0.23
STADchr6167864728Missense_MutationNAE95Q0.12
STADchr6167951187Missense_Mutationrs151265223R1271H0.26
STADchr6167872302Frame_Shift_DelNAK170Rfs*530.24
STADchr6167925049Frame_Shift_DelNAK1014Sfs*200.1
STADchr6167880438Missense_MutationNAP273H0.27
STADchr6167911391Missense_MutationNAS647P0.21
STADchr6167943408Missense_MutationNAR1051C0.04
STADchr6167952048Missense_MutationNAR1558H0.31
STADchr6167922874Missense_Mutationrs768531974P969L0.52
TGCTchr6167965848Frame_Shift_DelnovelG1682Sfs*490.23
TGCTchr6167875354Missense_MutationnovelA200T0.11
THCAchr6167951714Missense_MutationNAQ1447E0.07
THCAchr6167872246Frame_Shift_InsnovelK150Gfs*40.09
THCAchr61678265705'Flanknovel0.22
THYMchr6167966012In_Frame_Delrs758996773E1740del0.12
THYMchr6167918873Missense_MutationnovelD943N0.18
UCECchr6167875363Missense_MutationNAY203D0.34
UCECchr6167902329Missense_MutationNAE531D0.28
UCECchr6167951734Silentrs201083573P1453P0.47
UCECchr6167946834Missense_MutationNAK1155N0.26
UCECchr61678257945'Flanknovel0.15
UCECchr6167872331Nonsense_MutationNAR178*0.4
UCECchr6167911424Nonsense_MutationnovelE658*0.27
UCECchr6167917129Missense_Mutationrs111563192D862G0.15
UCECchr6167962526Missense_Mutationrs368769724R1636W0.43
UCECchr6167864696Missense_MutationNAR84Q0.37
UCECchr6167943166Nonsense_MutationNAS1039*0.25
UCECchr6167893892Missense_Mutationrs772507883Y403C0.36
UCECchr6167915193SilentnovelG768G0.27
UCECchr6167943422SilentnovelG1055G0.44
UCECchr6167925049Frame_Shift_DelNAK1014Sfs*200.29
UCECchr6167951708Missense_Mutationrs775819918R1445C0.09
UCECchr61678260615'Flankrs7747257160.41
UCECchr6167969840Missense_MutationnovelR1794C0.23
UCECchr6167943448Missense_Mutationrs765967945R1064Q0.44
UCECchr6167962670Intronnovel0.4
UCECchr6167870426SilentNAQ114Q0.49
UCECchr6167925070SilentnovelG1019G0.42
UCECchr6167947938SilentnovelC1206C0.29
UCECchr6167952180Missense_MutationnovelR1602I0.24
UCECchr6167952106SilentnovelD1577D0.44
UCECchr6167918744Nonsense_MutationnovelE900*0.28
UCECchr6167951528Missense_Mutationrs754140439D1385N0.35
UCECchr6167952171Missense_MutationnovelA1599D0.29
UCECchr6167969802Missense_MutationnovelG1781E0.38
UCECchr6167946773Nonsense_MutationnovelS1135*0.19
UCECchr6167948389Missense_Mutationrs372686576R1241W0.12
UCECchr6167951768Missense_MutationnovelE1465K0.26
UCECchr6167875377Silentrs140639514P207P0.42
UCECchr6167870385Splice_SiteNAX101_splice0.26
UCECchr6167914647Nonsense_MutationnovelY729*0.05
UCECchr6167943155SilentNAI1035I0.22
UCECchr61679759843'Flanknovel0.17
UCECchr6167890994Missense_Mutationrs200779172P381L0.41
UCECchr6167864673Silentrs758827842A76A0.06
UCECchr61678260845'Flanknovel0.29
UCECchr61678266645'Flanknovel0.31
UCECchr6167864627Missense_MutationnovelR61Q0.19
UCECchr6167948327Missense_MutationnovelP1220L0.1
UCECchr6167951595Missense_MutationnovelA1407D0.17
UCECchr6167952130Silentrs138409874D1585D0.14
UCECchr6167962524Missense_MutationnovelR1635Q0.14
UCECchr6167872331Nonsense_MutationNAR178*0.3
UCECchr6167943166Missense_Mutationrs375077108S1039L0.53
UCECchr6167947907Missense_MutationNAK1196R0.35
UCECchr6167951241Missense_Mutationrs200475003R1289Q0.34
UCECchr6167951586Missense_MutationNAV1404A0.23
UCECchr6167946737Missense_Mutationrs755200405R1123Q0.12
UCECchr6167898438SilentNAL517L0.16
UCECchr61679764153'Flanknovel0.13
UCECchr6167911575Intronnovel0.44
UCECchr61679760173'Flanknovel0.75
UCECchr6167864661Silentrs765753006I72I0.41
UCECchr6167913607Intronnovel0.38
UCECchr61679760083'Flanknovel0.2
UCECchr61678263995'Flankrs7650625130.28
UCECchr6167870484Missense_Mutationrs769754520A134T0.3
UCECchr6167911450Silentrs760584936V666V0.34
UCECchr6167951195Missense_Mutationrs768477295R1274C0.39
UCECchr6167962478Missense_MutationNAR1620C0.39
UCECchr61679760313'Flanknovel0.48
UCECchr61679767373'Flanknovel0.45
UCECchr6167864626Missense_Mutationrs770846848R61W0.32
UCECchr6167914669Nonsense_MutationnovelE737*0.34
UCECchr61679718603'Flanknovel0.56
UCECchr6167864667Silentrs373834830T74T0.41
UCECchr6167890953Missense_MutationnovelK367N0.35
UCECchr6167911386Missense_Mutationrs754471752V645A0.37
UCECchr6167969188Missense_Mutationrs529414934R1771C0.34
UCECchr6167948449Missense_MutationnovelD1261Y0.41
UCECchr6167962621Intronrs7495140650.45
UCECchr6167964885Intronnovel0.45
UCECchr61678265805'Flanknovel0.41
UCECchr61679718323'Flanknovel0.4
UCECchr6167925012Missense_MutationnovelP1000H0.31
UCECchr6167951971SilentNAI1532I0.3
UCECchr6167964783Intronnovel0.86
UCECchr61679766943'Flankrs3718479110.51
UCECchr6167946732SilentnovelK1121K0.33
UCECchr6167864662Missense_Mutationrs747022102E73K0.42
UCECchr6167946835Nonsense_MutationnovelK1156*0.11
UCECchr6167951207Nonsense_MutationnovelE1278*0.13
UCECchr6167965966SilentnovelV1719V0.19
UCECchr6167889263Nonsense_MutationnovelE316*0.24
UCECchr61679717193'Flanknovel0.3
UCECchr6167889253SilentNAK312K0.05
UCECchr6167914293SilentnovelH721H0.37
UCECchr6167922936In_Frame_DelNAL991del0.37
UCECchr6167969163Silentrs376394053D1762D0.39
UCECchr61679760123'Flankrs5578587010.19
UCECchr6167875394Missense_Mutationrs770737214R213Q0.45
UCECchr6167898351Missense_MutationnovelK488N0.39
UCECchr6167952093Missense_MutationnovelS1573L0.35
UCECchr6167870483Silentrs376282690D133D0.45
UCECchr6167911298Missense_MutationnovelL616V0.33
UCECchr6167951512Silentrs114383783F1379F0.2
UCECchr61679767483'Flanknovel0.41
UCECchr6167969802Missense_MutationnovelG1781V0.08
UCECchr61678255785'Flanknovel0.57
UCECchr6167896922Missense_MutationnovelL423V0.21
UCECchr6167898273Silentrs756963164T462T0.42
UCECchr6167952183Missense_Mutationrs759940319A1603V0.32
UCECchr61679699993'Flanknovel0.58
UCECchr61679767623'Flanknovel0.25
UCECchr6167864734Missense_MutationNAH97Y0.35
UCECchr6167911380Missense_Mutationrs753394042R643Q0.28
UCECchr6167962478Missense_MutationNAR1620C0.06
UCECchr61678262625'Flanknovel0.34
UCECchr6167962803Intronnovel0.29
UCECchr61679718793'Flanknovel0.41
UCECchr6167951998SilentnovelQ1541Q0.33
UCECchr6167952118Missense_MutationnovelE1581D0.12
UCECchr6167962793Intronnovel0.11
UCECchr6167925049Frame_Shift_DelNAK1014Sfs*200.18
UCECchr6167951711Missense_MutationNAT1446A0.28
UCECchr6167962555Silentrs764768550D1645D0.25
UCECchr6167864747Splice_SiteNAX101_splice0.38
UCECchr6167917139SilentNAN865N0.46
UCECchr6167962551Missense_MutationNAR1644L0.35
UCECchr6167969170Missense_Mutationrs540701101R1765W0.27
UCECchr6167914142Intronnovel0.37
UCECchr6167962616Intronrs3743600140.27
UCECchr6167880419Missense_MutationnovelL267M0.08
UCECchr6167946718Missense_Mutationrs756198307R1117C0.38
UCECchr6167951612Missense_MutationNAE1413Q0.08
UCECchr6167917217Missense_MutationnovelE891D0.26
UCECchr6167943970Missense_MutationnovelS1083Y0.34
UCECchr6167947862Missense_MutationnovelP1181L0.25
UCECchr6167948348Missense_MutationnovelT1227I0.25
UCECchr6167962550Nonsense_MutationnovelR1644*0.59
UCECchr61678256145'Flanknovel0.4
UCECchr61678256455'Flanknovel0.47
UCECchr6167952193Splice_Regionnovel0.31
UCECchr6167911348SilentNAL632L0.22
UCECchr6167951186Missense_Mutationrs144621028R1271C0.09
UCECchr6167962478Missense_MutationNAR1620C0.37
UCECchr61678257835'Flanknovel0.5
UCECchr6167969928Missense_MutationnovelT1823I0.05
UCECchr6167875443Missense_MutationnovelK229N0.39
UCECchr6167896964Missense_MutationnovelS437A0.21
UCECchr6167915209Nonsense_Mutationrs750660726R774*0.33
UCECchr6167915352SilentnovelQ821Q0.11
UCECchr6167943447Nonsense_MutationnovelR1064*0.59
UCECchr6167962550Nonsense_MutationnovelR1644*0.38
UCECchr61679718583'Flanknovel0.38
UCECchr6167864661Silentrs765753006I72I0.45
UCECchr6167969842SilentnovelR1794R0.12
UCECchr61679768953'Flanknovel0.47
UCSchr6167944042Missense_MutationnovelS1107C0.21

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
ACCDEL0.20.041315
BLCADEL0.37990.00027473
BRCADEL0.30193.2026e-22
CESCDEL0.30179.8477e-05
KIRCDEL0.24437.439e-11
KIRPDEL0.10760.054498
LGGDEL0.14420.0022414
MESODEL0.34480.0023534
OVDEL0.6398.6228e-38
PAADDEL0.3750.11274
SKCMDEL0.53681.5442e-06
THYMDEL0.13820.10691

Survival Analysis
CancerP-value Q-value
THYM0.031

Kaplan-Meier Survival Analysis

KIRC0.005

Kaplan-Meier Survival Analysis

STAD0.027

Kaplan-Meier Survival Analysis

SARC0.047

Kaplan-Meier Survival Analysis

MESO0.0068

Kaplan-Meier Survival Analysis

SKCM0.018

Kaplan-Meier Survival Analysis

PRAD0.043

Kaplan-Meier Survival Analysis

BRCA0.0044

Kaplan-Meier Survival Analysis

CESC0.003

Kaplan-Meier Survival Analysis

READ0.0046

Kaplan-Meier Survival Analysis

LAML0.02

Kaplan-Meier Survival Analysis

LGG0.021

Kaplan-Meier Survival Analysis

LUAD0.026

Kaplan-Meier Survival Analysis

OV0.00059

Kaplan-Meier Survival Analysis

Drugs

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Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742

  • Description
  • RBPome
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000130396 (Gene tree)
Gene ID
4301
Gene Symbol
AFDN
Alias
AF-6|AF6|MLLT4
Full Name
afadin, adherens junction formation factor
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Plus strand
Length
145,102 bases
Position
chr6:167,826,922-167,972,023
Accession
7137
RBP type
non-canonical RBP
Summary
This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]
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
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & MCF10A2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
30607034Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)OOPS & U2OS2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
27453046Comprehensive Identification of RNA-Binding Domains in Human CellsRIC & Hela2016 Aug 18Castello ADOI: 10.1016/j.molcel.2016.06.029
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000366806AFDN-2035962-ENSP000003557711781 (aa)-A8MQ02
ENST00000486649AFDN-214423--- (aa)--
ENST00000366809AFDN-2044839--- (aa)--
ENST00000511503AFDN-2201257--- (aa)--
ENST00000497596AFDN-215728-ENSP00000426462167 (aa)-H0YA98
ENST00000392112AFDN-2067459XM_006715494ENSP000003759601743 (aa)XP_006715557P55196
ENST00000485634AFDN-213606-ENSP00000423035191 (aa)-H0Y948
ENST00000447894AFDN-2115475XM_005266996ENSP000004045951824 (aa)XP_005267053P55196
ENST00000351017AFDN-2025823XM_006715491ENSP000002526921831 (aa)XP_006715554J3KN01
ENST00000515794AFDN-222746-ENSP00000422166124 (aa)-H0Y8U8
ENST00000400822AFDN-2077593-ENSP000003836231834 (aa)-P55196
ENST00000509296AFDN-219686--- (aa)--
ENST00000400824AFDN-208875-ENSP00000383625247 (aa)-F8W9I4
ENST00000511637AFDN-2215999--- (aa)--
ENST00000400825AFDN-209963-ENSP00000383626250 (aa)-E9PFY5
ENST00000507679AFDN-217670--- (aa)--
ENST00000476946AFDN-212867-ENSP00000424188129 (aa)-H0Y9I0
ENST00000392108AFDN-2056812-ENSP000003759561651 (aa)-P55196
ENST00000507704AFDN-2181031-ENSP00000421441313 (aa)-H0Y8L4
ENST00000503021AFDN-216581--- (aa)--
ENST00000423229AFDN-2101807-ENSP00000414675389 (aa)-H0Y7R8
ENST00000344191AFDN-2015249-ENSP000003411181665 (aa)-Q5TIG5
Gene Model
Click here to download ENSG00000130396's gene model file
Pathways
Pathway IDPathway NameSource
hsa04014Ras signaling pathwayKEGG
hsa04015Rap1 signaling pathwayKEGG
hsa04024cAMP signaling pathwayKEGG
hsa04520Adherens junctionKEGG
hsa04530Tight junctionKEGG
hsa04670Leukocyte transendothelial migrationKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000130396Fibrinogen1.0580000E-005-
ENSG00000130396Fibrinogen2.0590000E-007-
ENSG00000130396Platelet Function Tests7.2200000E-006-
ENSG00000130396Platelet Function Tests9.4600000E-006-
ENSG00000130396Platelet Function Tests5.8900000E-007-
ENSG00000130396Platelet Function Tests1.0500000E-006-
ENSG00000130396Platelet Function Tests6.1000000E-007-
ENSG00000130396Platelet Function Tests1.1700000E-007-
ENSG00000130396Platelet Function Tests3.9900000E-006-
ENSG00000130396Platelet Function Tests2.9000000E-006-
ENSG00000130396Platelet Function Tests1.4700000E-007-
ENSG00000130396Platelet Function Tests3.4600000E-008-
ENSG00000130396Platelet Function Tests3.5600000E-006-
ENSG00000130396Child Development Disorders, Pervasive6.1424800E-005-
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000130396rs624277056167886940?Non-albumin protein levels29403010[0.023-0.046] unit increase novel0.03439EFO_0004568
ENSG00000130396rs38005336167935400?Red cell distribution width30595370EFO_0005192
ENSG00000130396rs22852486167942931?Red blood cell count30595370EFO_0004305
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000130396's network

* RBP PPI network refers to all genes directly bind to RBP
Orthologs identified by RBPome
Ensembl IDGene SymbolCoverageIdentiy OrthologGene SymbolCoverageIdentiy Species
ENSG00000130396AFDN10096.761ENSMUSG00000068036Afdn10096.943Mus_musculus
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0005515protein binding17491594.22891260.23750010.23885123.27815408.IPIFunction
GO:0005654nucleoplasm-IDAComponent
GO:0005829cytosol-IDAComponent
GO:0005829cytosol-TASComponent
GO:0005886plasma membrane-IDAComponent
GO:0005911cell-cell junction10856295.TASComponent
GO:0005913cell-cell adherens junction21873635.IBAComponent
GO:0007155cell adhesion10856295.TASProcess
GO:0007165signal transduction-IEAProcess
GO:0007267cell-cell signaling8242616.TASProcess
GO:0008022protein C-terminus binding10856295.TASFunction
GO:0010628positive regulation of gene expression25893857.IMPProcess
GO:0016607nuclear speck-IDAComponent
GO:0017016Ras GTPase binding23885123.IPIFunction
GO:0022409positive regulation of cell-cell adhesion25893857.IMPProcess
GO:0030054cell junction-IDAComponent
GO:0030336negative regulation of cell migration21478912.IMPProcess
GO:0032880regulation of protein localization21873635.IBAProcess
GO:0034332adherens junction organization-TASProcess
GO:0043547positive regulation of GTPase activity23885123.IMPProcess
GO:0044291cell-cell contact zone16882694.IDAComponent
GO:0044331cell-cell adhesion mediated by cadherin23990464.ISSProcess
GO:0045296cadherin binding25468996.HDAFunction
GO:0050839cell adhesion molecule binding21873635.IBAFunction
GO:0051015actin filament binding16882694.IDAFunction
GO:0061951establishment of protein localization to plasma membrane23990464.ISSProcess
GO:0070160tight junction27815408.IDAComponent
GO:0070830bicellular tight junction assembly27815408.IMPProcess
GO:0090557establishment of endothelial intestinal barrier23885123.IMPProcess
GO:2000049positive regulation of cell-cell adhesion mediated by cadherin16882694.IMPProcess
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