EuRBPDB

  • Home
  • Cancer
  • Family
  • Species
  • RBPredictor
  • Search
  • Download
  • Submit
  • Help
  • Contact
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
26311411Myoferlin plays a key role in VEGFA secretion and impacts tumor-associated angiogenesis in human pancreas cancer.Int J Cancer2016 Feb 1Fahmy Kdoi: 10.1002/ijc.29820
22761893Myoferlin depletion in breast cancer cells promotes mesenchymal to epithelial shape change and stalls invasion.PLoS One2012Li Rdoi: 10.1371/journal.pone.0039766
27432471Quantitative proteomics identifies myoferlin as a novel regulator of A Disintegrin and Metalloproteinase 12 in HeLa cells.J Proteomics2016 Oct 4Zhou Ydoi: 10.1016/j.jprot.2016.07.015
27845903Myoferlin is a novel exosomal protein and functional regulator of cancer-derived exosomes.Oncotarget2016 Dec 13Blomme Adoi: 10.18632/oncotarget.13276.
23864327Myoferlin is a key regulator of EGFR activity in breast cancer.Cancer Res2013 Sep 1Turtoi Adoi: 10.1158/0008-5472.CAN-13-1142
22135466Mechanistic modeling of the effects of myoferlin on tumor cell invasion.Proc Natl Acad Sci U S A2011 Dec 13Eisenberg MCdoi: 10.1073/pnas.1116327108
25631868Myoferlin depletion elevates focal adhesion kinase and paxillin phosphorylation and enhances cell-matrix adhesion in breast cancer cells.Am J Physiol Cell Physiol2015 Apr 15Blackstone BNdoi: 10.1152/ajpcell.00276.2014

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr1093431419Missense_MutationnovelQ112K0.04
ACCchr1093343905Missense_Mutationrs201449564R1426Q0.94
BLCAchr1093313135Missense_Mutationrs199884146P1925L0.54
BLCAchr1093323311Frame_Shift_DelnovelL1771Sfs*410.37
BLCAchr1093349933Frame_Shift_DelnovelQ1320Rfs*230.39
BLCAchr1093381330Missense_MutationnovelV589I0.3
BLCAchr1093387862Missense_MutationNAL545F0.04
BLCAchr1093310113Missense_MutationnovelF2018L0.24
BLCAchr1093353813Missense_MutationNAS1160L0.25
BLCAchr1093373068In_Frame_DelnovelP773del0.12
BLCAchr1093351209SilentnovelL1303L0.15
BLCAchr1093379868SilentnovelR666R0.14
BLCAchr1093381251Missense_MutationNAS615L0.5
BLCAchr1093399414Missense_MutationnovelE400G0.18
BLCAchr1093351539Missense_MutationnovelF1232L0.3
BLCAchr1093310573Missense_MutationnovelR1987L0.3
BLCAchr1093313185SilentNAH1908H0.36
BLCAchr1093353884SilentnovelV1136V0.11
BLCAchr1093361515Missense_MutationnovelP971T0.05
BLCAchr1093351829Frame_Shift_DelnovelI1166Mfs*100.69
BLCAchr10933069033'UTRnovel0.34
BLCAchr1093363981Missense_Mutationrs188501773E950K0.53
BLCAchr1093404038SilentnovelL276L0.28
BLCAchr10934822845'Flanknovel0.58
BLCAchr1093397246Splice_SiteNAX445_splice0.17
BLCAchr10934822365'Flanknovel0.38
BRCAchr1093313089SilentNAL1940L0.14
BRCAchr1093426095Missense_Mutationrs557119618G137R0.17
BRCAchr1093319963Missense_MutationNAR1836T0.55
BRCAchr1093313152Missense_MutationNAC1919W0.15
BRCAchr1093313043Nonsense_MutationnovelK1956*0.5
BRCAchr1093328881SilentnovelL1671L0.08
BRCAchr1093325841Silentrs772814311Q1752Q0.49
BRCAchr1093328909Missense_MutationNAS1662C0.19
BRCAchr1093351752Silentrs769006926F1192F0.28
BRCAchr1093387813Missense_MutationNAD561G0.27
BRCAchr1093351773Silentrs368030537T1185T0.47
BRCAchr1093353868Missense_Mutationrs543442746R1142C0.33
BRCAchr1093399445Missense_MutationnovelD390H0.29
BRCAchr1093333902SilentnovelR1525R0.25
BRCAchr1093369670Missense_MutationNAG855A0.26
BRCAchr1093310079Missense_Mutationrs369733924G2030S0.24
CESCchr1093328862Nonsense_MutationNAQ1678*0.13
CESCchr1093335984Silentrs763946104T1500T0.4
CESCchr1093323163Missense_Mutationrs558864109R1791C0.36
CESCchr1093363997Silentrs757352331G944G0.22
CESCchr1093369768Frame_Shift_InsnovelE823Rfs*150.38
CESCchr1093369770Nonsense_MutationnovelQ822*0.38
CESCchr1093316811Splice_RegionnovelE1867E0.41
CESCchr1093355721Missense_Mutationrs777087223E1104K0.46
CESCchr1093369678Silentrs780131150F852F0.39
CESCchr1093404068SilentnovelY266Y0.38
CESCchr1093347632Missense_Mutationrs766655843V1412I0.32
CESCchr1093351821SilentnovelL1169L0.27
CESCchr1093353859Missense_MutationNAV1145I0.17
CESCchr1093361538Missense_MutationNAS963L0.42
CESCchr1093478199Intronnovel0.27
CESCchr1093478213IntronNA0.34
CESCchr1093351742Missense_MutationnovelE1196Q0.36
CESCchr1093431502Missense_Mutationrs200304153A84V0.21
COADchr1093310063Missense_MutationnovelL2035H0.47
COADchr1093363998Frame_Shift_DelNAG944Afs*240.38
COADchr1093482117SilentNAV26V0.34
COADchr1093329803Nonsense_MutationNAE1615*0.33
COADchr1093482187Missense_Mutationrs185721667R3Q0.48
COADchr1093310043Missense_MutationNAA2042T0.14
COADchr1093310568Missense_Mutationrs756750552E1989K0.32
COADchr1093347731Missense_MutationnovelD1379N0.25
COADchr1093333762Missense_MutationnovelG1572D0.29
COADchr1093381263Missense_MutationnovelK611T0.22
COADchr1093325946Missense_MutationnovelH1717Q0.45
COADchr1093392942Silentrs11187410S477S0.34
COADchr1093353891Splice_Regionrs7490350350.46
COADchr1093351550Nonsense_Mutationrs751178586R1229*0.52
COADchr1093431502Missense_Mutationrs200304153A84V0.33
COADchr1093374897Nonsense_Mutationrs780482700R723*0.31
COADchr10933067833'UTRnovel0.56
COADchr1093409731Frame_Shift_DelNAE148Kfs*380.31
COADchr1093329785Frame_Shift_DelNAS1621Lfs*140.18
COADchr1093361544Missense_MutationNAA961V0.47
COADchr1093313163Missense_MutationNAP1916S0.26
COADchr1093323338SilentNAV1764V0.28
COADchr1093397232Intronnovel0.14
COADchr1093369732SilentNAL834L0.19
COADchr1093399393Frame_Shift_Delrs752546951K407Rfs*60.08
COADchr10934822345'Flanknovel0.44
COADchr1093374888SilentnovelR726R0.17
COADchr1093353890Splice_Regionrs7753039080.47
COADchr10934822925'Flanknovel0.4
COADchr1093351566Missense_MutationNAK1223N0.11
COADchr1093325861Missense_MutationnovelT1746A0.08
COADchr1093356778Missense_MutationnovelK1064R0.09
COADchr1093359879Missense_Mutationrs370328569R1025Q0.22
COADchr1093313190Missense_Mutationrs138208183R1907C0.41
COADchr10934822825'Flanknovel0.31
COADchr1093319898Missense_Mutationrs771346954E1858K0.33
COADchr1093343891Missense_Mutationrs775970286E1431K0.12
COADchr1093456927Missense_MutationNAK33N0.26
COADchr1093366454Missense_MutationnovelE897D0.34
COADchr1093323138Missense_MutationNAD1799G0.21
COADchr1093351751Missense_Mutationrs375965848D1193N0.13
COADchr1093353890Splice_Regionrs7753039080.28
COADchr1093310041Silentrs747850850A2042A0.48
COADchr1093310618Missense_MutationnovelI1972T0.05
COADchr1093381361SilentnovelA578A0.26
COADchr1093347687Silentrs199976582T1393T0.18
DLBCchr1093329730Missense_Mutationrs773089825I1639T0.44
ESCAchr1093310611Missense_MutationnovelN1974K0.46
ESCAchr1093325909Missense_Mutationrs777800718H1730Y0.13
GBMchr1093366502SilentnovelG881G0.46
GBMchr1093374922Silentrs372347097N714N0.75
GBMchr1093389092Missense_MutationNAY507H0.64
GBMchr1093313108Missense_MutationnovelK1934I0.16
GBMchr1093359835Missense_MutationnovelR1040G0.06
GBMchr1093320003Missense_MutationnovelG1823C0.07
GBMchr1093310568Missense_Mutationrs756750552E1989K0.23
GBMchr1093313158SilentnovelE1917E0.2
GBMchr1093319883Missense_Mutationrs780830520V1863I0.43
GBMchr1093328823Missense_MutationnovelL1691I0.2
GBMchr1093343891Missense_Mutationrs775970286E1431K0.48
GBMchr1093356739Missense_MutationnovelR1077M0.41
GBMchr1093363987Missense_MutationnovelP948S0.44
GBMchr1093409604Missense_Mutationrs374976050R190Q0.24
GBMchr10934822485'Flanknovel0.35
GBMchr1093351456Frame_Shift_DelnovelC1260Sfs*60.51
GBMchr1093351710SilentnovelQ1206Q0.56
GBMchr1093351717Missense_MutationnovelV1204D0.19
GBMchr1093323086Nonsense_MutationnovelY1816*0.06
GBMchr1093366489Missense_MutationnovelS886A0.08
GBMchr1093351715Missense_MutationnovelL1205I0.19
GBMchr1093351749SilentnovelD1193D0.06
GBMchr1093366552Missense_MutationnovelE865Q0.15
GBMchr1093359894Missense_Mutationrs761738450R1020Q0.26
GBMchr10933069373'UTRnovel0.15
HNSCchr1093399466Frame_Shift_DelnovelT380Nfs*80.2
HNSCchr1093319884Silentrs181874899I1862I0.33
HNSCchr1093409713Missense_MutationnovelE154K0.24
HNSCchr1093310047Silentrs772809321F2040F0.12
HNSCchr1093329806Missense_MutationnovelQ1614E0.47
HNSCchr1093431486Missense_MutationnovelK89N0.27
HNSCchr1093408910Silentrs776333850R202R0.31
HNSCchr1093409699SilentnovelD158D0.03
KICHchr1093408813SilentnovelR235R0.62
KIRCchr1093316769SilentNAP1881P0.25
KIRCchr1093379912Missense_MutationNAS651N0.23
KIRCchr1093333803SilentNAY1558Y0.09
KIRCchr1093389045Missense_MutationNAE522D0.16
KIRCchr1093310041Silentrs747850850A2042A0.08
KIRPchr1093316754Frame_Shift_DelnovelI1887Yfs*160.36
KIRPchr1093306968Missense_Mutationrs372520132V2061M0.47
LAMLchr1093373066Missense_MutationnovelD774V0.13
LAMLchr1093329785Missense_MutationnovelS1621P0.04
LAMLchr1093372970Missense_MutationNAS806F0.06
LGGchr10933069013'UTRnovel0.11
LGGchr1093310598Missense_Mutationrs180931942D1979N0.7
LGGchr1093313050Silentrs192250227Y1953Y0.06
LGGchr1093431441SilentnovelI104I0.4
LGGchr1093323092SilentnovelD1814D0.28
LGGchr1093313050Silentrs192250227Y1953Y0.04
LGGchr1093366434Missense_MutationnovelG904A0.05
LGGchr1093351751Missense_Mutationrs375965848D1193N0.2
LGGchr1093409574Missense_MutationnovelQ200R0.06
LIHCchr10934822235'Flanknovel0.46
LIHCchr1093349839Missense_MutationnovelN1351S0.29
LIHCchr1093374829SilentnovelT745T0.32
LIHCchr1093401439Nonsense_Mutationrs199504349R366*0.29
LIHCchr1093351258Missense_Mutationrs553662967A1287V0.22
LIHCchr1093313144Missense_MutationnovelD1922V0.27
LIHCchr1093356746Missense_Mutationrs181998538R1075C0.04
LIHCchr1093356737Nonsense_MutationNAR1078*0.07
LUADchr1093361558Splice_SitenovelX957_splice0.21
LUADchr1093409669Frame_Shift_DelnovelP169Qfs*170.41
LUADchr1093310021Missense_MutationnovelP2049Q0.09
LUADchr1093313096Missense_Mutationrs764412531A1938G0.15
LUADchr1093456927Missense_MutationNAK33N0.08
LUADchr1093396152SilentnovelG469G0.21
LUADchr1093313075Missense_MutationNAS1945F0.34
LUADchr1093389137Nonsense_MutationNAE492*0.46
LUADchr1093381321Missense_MutationnovelA592P0.05
LUADchr1093347664Missense_Mutationrs572212231R1401L0.31
LUADchr1093313081Missense_MutationnovelQ1943L0.57
LUADchr1093353864Missense_Mutationrs761250319C1143S0.42
LUADchr1093355673Missense_MutationnovelT1120S0.28
LUADchr1093351821SilentNAL1169L0.12
LUADchr1093306984Missense_MutationNAK2055N0.15
LUADchr1093366528Missense_MutationNAK873E0.22
LUADchr1093364015Silentrs769327487E938E0.32
LUADchr1093374852Missense_MutationnovelV738M0.42
LUADchr1093381354Missense_MutationNAH581N0.27
LUADchr1093392929Missense_MutationnovelA482P0.23
LUADchr1093408911Missense_Mutationrs555479300R202H0.15
LUADchr1093402346Splice_Regionrs181979817G292G0.23
LUADchr1093356829Missense_MutationNAD1047G0.31
LUADchr1093369645Missense_MutationnovelM863I0.2
LUADchr1093369755Missense_Mutationrs149848851G827R0.18
LUADchr1093356827Nonsense_MutationnovelQ1048*0.36
LUADchr1093397449Missense_Mutationrs760821493T410I0.12
LUADchr1093408911Missense_Mutationrs555479300R202H0.12
LUSCchr1093351270Missense_MutationnovelP1283L0.29
LUSCchr1093366538SilentnovelL869L0.12
LUSCchr1093351469Nonsense_MutationnovelG1256*0.26
LUSCchr1093325841Silentrs772814311Q1752Q0.13
LUSCchr1093319904Missense_MutationnovelP1856T0.39
LUSCchr1093387906Missense_MutationnovelG530V0.71
LUSCchr1093333787Missense_MutationNAE1564Q0.19
LUSCchr1093369760Frame_Shift_Delrs776353584N825Tfs*120.18
LUSCchr1093325862Missense_MutationnovelR1745S0.52
LUSCchr1093366481SilentNAV888V0.33
LUSCchr1093366482Missense_MutationNAV888G0.33
LUSCchr1093337880Missense_MutationnovelY1458H0.19
LUSCchr1093404034Missense_MutationnovelG278W0.39
LUSCchr10933069473'UTRnovel0.32
LUSCchr1093363998Frame_Shift_DelNAG944Afs*240.08
OVchr1093364048SilentNAH927H0.36
OVchr1093329825Missense_MutationnovelE1607D0.06
OVchr1093381320Missense_MutationnovelA592D0.08
OVchr1093329715Missense_Mutationrs372110838R1644Q0.1
OVchr1093396202Frame_Shift_DelnovelV453*0.11
OVchr1093356800Missense_Mutationrs748524728I1057V0.77
OVchr1093374917Frame_Shift_InsNAT716Nfs*200.36
OVchr1093379868Missense_Mutationrs372369806R666W0.19
OVchr1093316737In_Frame_InsnovelK1892delinsTE0.04
PAADchr1093323109Missense_MutationnovelG1809R0.13
PRADchr1093329686Missense_Mutationrs200675152G1654S0.08
PRADchr1093399493Missense_MutationNAD374N0.31
PRADchr1093310549Missense_MutationNAK1995M0.22
PRADchr1093313174Frame_Shift_DelnovelP1912Lfs*120.58
PRADchr1093343909Missense_MutationnovelC1425R0.52
PRADchr1093373009Missense_Mutationrs766831576A793V0.46
READchr1093361506Missense_MutationNAE974K0.32
READchr1093363968Missense_Mutationrs555130930T954M0.25
READchr1093328906Missense_MutationNAG1663A0.59
READchr1093329745Missense_Mutationrs762684800V1634A0.23
READchr1093409581Missense_MutationNAD198N0.29
READchr1093335961Missense_MutationNAS1508L0.11
READchr1093359917Missense_MutationNAE1012D0.36
READchr1093392956Splice_SitenovelX473_splice0.39
READchr1093313148Missense_MutationnovelL1921V0.29
READchr1093329797Missense_MutationNAD1617Y0.5
SARCchr1093397288Frame_Shift_DelnovelP432Lfs*70.11
SARCchr1093397420Missense_MutationnovelE420K0.41
SARCchr1093408864Missense_MutationnovelP218T0.08
SKCMchr1093387857SilentNAE546E0.22
SKCMchr1093374838Silentrs761252874S742S0.24
SKCMchr1093356785Missense_MutationNAH1062Y0.26
SKCMchr1093323327Missense_MutationNAP1768L0.21
SKCMchr1093366440Missense_MutationnovelP902L0.14
SKCMchr1093356755Missense_Mutationrs201916621R1072C0.3
SKCMchr1093343891Missense_Mutationrs775970286E1431K0.4
SKCMchr1093351751Missense_Mutationrs375965848D1193N0.34
SKCMchr1093366546Nonsense_MutationnovelQ867*0.33
SKCMchr1093310034Missense_MutationNAL2045F0.4
SKCMchr1093372970Missense_MutationNAS806F0.06
SKCMchr1093399431Silentrs752348119L394L0.32
SKCMchr1093351550Nonsense_Mutationrs751178586R1229*0.07
SKCMchr1093397406SilentnovelV424V0.3
SKCMchr1093337859Missense_MutationNAE1465K0.23
SKCMchr1093316787Silentrs771670858T1875T0.13
SKCMchr1093313135Missense_Mutationrs199884146P1925L0.72
SKCMchr1093313136Missense_MutationnovelP1925T0.72
SKCMchr1093387822Missense_MutationNAS558L0.47
SKCMchr1093328824SilentNAI1690I0.35
SKCMchr1093369678Silentrs780131150F852F0.35
SKCMchr1093409651Silentrs752115954S174S0.4
SKCMchr1093337911Splice_RegionnovelE1447E0.4
SKCMchr10933068713'UTRnovel0.35
SKCMchr1093335943Missense_MutationNAP1514R0.05
SKCMchr1093316814Splice_SiteNAX1867_splice0.26
SKCMchr1093431517Splice_SiteNAX79_splice0.29
SKCMchr1093359977Splice_RegionNAG992G0.35
SKCMchr1093409661Missense_MutationNAG171E0.33
SKCMchr1093343891Missense_Mutationrs775970286E1431K0.41
SKCMchr1093366395Missense_MutationnovelR917K0.39
SKCMchr1093325898Silentrs748134478R1733R0.82
SKCMchr1093351824SilentNAF1168F0.76
SKCMchr1093325903Missense_MutationnovelL1732F0.4
SKCMchr1093351732Missense_Mutationrs772413387G1199E0.24
SKCMchr1093333779SilentNAQ1566Q0.16
SKCMchr1093316780Nonsense_Mutationrs779005999R1878*0.27
SKCMchr1093351824SilentNAF1168F0.3
SKCMchr1093387906Missense_MutationnovelG530E0.09
SKCMchr1093387907Missense_MutationnovelG530R0.1
SKCMchr1093313074SilentNAS1945S0.36
SKCMchr1093381295SilentnovelG600G0.32
SKCMchr1093347732SilentNAI1378I0.26
SKCMchr1093361509Missense_MutationNAW973R0.37
SKCMchr1093402246Missense_MutationnovelG326R0.15
SKCMchr1093310625Missense_MutationNAL1970M0.29
SKCMchr1093347641Missense_MutationNAE1409K0.42
SKCMchr1093351242Missense_MutationNAM1292I0.94
SKCMchr1093316760SilentNAI1884I0.13
SKCMchr1093387867Missense_Mutationrs780055290T543I0.39
SKCMchr1093387868Missense_MutationnovelT543S0.41
SKCMchr1093319898Missense_Mutationrs771346954E1858K0.51
SKCMchr1093323281Frame_Shift_DelnovelA1785Pfs*80.41
SKCMchr1093323358Missense_MutationnovelG1758R0.63
SKCMchr1093351227SilentnovelI1297I0.39
SKCMchr1093401473SilentnovelA354A0.71
SKCMchr1093401474Missense_Mutationrs369657488A354V0.69
STADchr1093409604Missense_Mutationrs374976050R190Q0.13
STADchr1093381232SilentnovelR621R0.29
STADchr1093396155Silentrs754821669G468G0.25
STADchr1093351820Missense_MutationNAH1170N0.28
STADchr1093366500Missense_MutationnovelR882H0.26
STADchr1093397405Missense_Mutationrs771328774V425I0.35
STADchr1093351454Missense_Mutationrs370780451G1261R0.27
STADchr1093359892Nonsense_Mutationrs766517143R1021*0.08
STADchr1093310110Silentrs200914729I2019I0.2
STADchr1093347736Missense_MutationnovelV1377A0.07
STADchr1093335995Missense_MutationNAF1497L0.34
STADchr1093404212Frame_Shift_DelnovelF246Sfs*60.14
STADchr1093351707SilentNAN1207N0.07
STADchr1093310102Missense_Mutationrs754851421R2022H0.3
STADchr1093408793Frame_Shift_DelNAF241Lfs*110.26
STADchr1093310078Missense_Mutationrs761081912G2030D0.34
STADchr1093401419Missense_MutationNAQ372H0.29
STADchr1093351205Frame_Shift_DelnovelR1298Sfs*30.41
STADchr1093351454Missense_Mutationrs370780451G1261R0.31
STADchr1093364045Silentrs375118316T928T0.38
STADchr1093392929Missense_MutationnovelA482T0.35
STADchr1093319878Silentrs372599186A1864A0.31
STADchr1093351240Missense_MutationNAV1293A0.11
STADchr1093359883Missense_MutationNAV1024F0.1
STADchr1093396142Missense_MutationNAD473N0.41
STADchr1093359868Missense_MutationnovelK1029E0.17
STADchr1093319924Missense_MutationNAV1849A0.25
STADchr1093333868Missense_MutationnovelA1537S0.13
STADchr1093349871Silentrs368099572S1340S0.4
STADchr1093337895Missense_MutationNAW1453R0.21
STADchr1093347702SilentNAV1388V0.37
STADchr1093397269Frame_Shift_DelnovelI438*0.28
STADchr1093356746Missense_Mutationrs181998538R1075C0.23
STADchr1093361472Missense_MutationNAN985S0.06
STADchr1093369699SilentnovelV845V0.06
STADchr1093408793Frame_Shift_DelNAF241Lfs*110.31
STADchr1093359838Missense_MutationNAA1039T0.28
THCAchr1093361496Missense_MutationNAD977G0.4
THYMchr1093337861Missense_MutationnovelH1464R0.09
UCECchr1093351258Missense_Mutationrs553662967A1287V0.3
UCECchr1093361554Missense_Mutationrs200007562G958S0.27
UCECchr1093325834Missense_MutationNAI1755V0.55
UCECchr10933067843'UTRnovel0.32
UCECchr1093399476SilentNAQ379Q0.36
UCECchr1093310103Missense_MutationnovelR2022C0.43
UCECchr1093316789Missense_MutationnovelT1875P0.11
UCECchr1093347761Missense_MutationnovelY1369H0.15
UCECchr1093431502Missense_Mutationrs200304153A84V0.29
UCECchr1093325870Missense_MutationNAE1743K0.48
UCECchr1093373018Missense_MutationNAR790Q0.11
UCECchr1093313118Missense_MutationnovelN1931D0.42
UCECchr1093329678SilentnovelP1656P0.41
UCECchr1093408803Missense_MutationnovelN238T0.37
UCECchr1093349944Missense_MutationnovelM1316T0.46
UCECchr1093316752Missense_MutationnovelI1887T0.38
UCECchr1093356745Missense_Mutationrs766420687R1075H0.35
UCECchr1093319931Nonsense_Mutationrs374378517R1847*0.56
UCECchr1093333876Missense_MutationnovelS1534N0.52
UCECchr1093355656SilentnovelN1125N0.42
UCECchr1093347672SilentnovelD1398D0.11
UCECchr1093323086Silentrs201878661Y1816Y0.1
UCECchr1093351257Silentrs777576271A1287A0.47
UCECchr1093404170Missense_MutationnovelI260S0.43
UCECchr1093408792Frame_Shift_Insrs759480107D242*0.4
UCECchr1093401529Missense_Mutationrs201829735R336C0.38
UCECchr1093351752Silentrs769006926F1192F0.21
UCECchr1093372973Missense_MutationNAA805V0.21
UCECchr1093316750Missense_MutationNAW1888R0.37
UCECchr1093404197Missense_MutationNAM251T0.26
UCECchr1093347665Missense_MutationnovelR1401C0.5
UCECchr1093310110Silentrs200914729I2019I0.26
UCECchr1093319930Missense_MutationNAR1847Q0.12
UCECchr1093337902SilentnovelI1450I0.05
UCECchr1093355702Missense_MutationNAS1110N0.29
UCECchr1093361555Splice_RegionNAN957N0.15
UCECchr1093316743Missense_MutationnovelN1890S0.19
UCECchr1093351290SilentnovelG1276G0.24
UCECchr1093329716Nonsense_MutationNAR1644*0.38
UCECchr1093351751Missense_Mutationrs375965848D1193N0.39
UCECchr1093359903Missense_MutationNAT1017S0.23
UCECchr1093374897Nonsense_Mutationrs780482700R723*0.48
UCECchr1093355651Missense_MutationnovelP1127L0.15
UCECchr1093356790Missense_MutationnovelK1060T0.48
UCECchr1093452075Missense_MutationnovelD71Y0.24
UCECchr1093351226Missense_MutationnovelR1298G0.17
UCECchr1093351499Missense_MutationnovelP1246S0.28
UCECchr1093389108SilentnovelP501P0.24
UCECchr1093347632Missense_Mutationrs766655843V1412I0.46
UCECchr1093356772Missense_MutationnovelR1066H0.41
UCECchr1093426096Silentrs762163573S136S0.5
UCECchr10934823165'Flanknovel0.43
UCECchr1093355721Missense_Mutationrs777087223E1104K0.47
UCECchr10933067843'UTRnovel0.39
UCECchr1093347679Missense_Mutationrs781611138R1396H0.46
UCECchr1093333768Missense_MutationnovelN1570S0.52
UCECchr1093337854Frame_Shift_DelnovelK1466Nfs*200.52
UCECchr1093359838Missense_MutationNAA1039T0.42
UCECchr1093363997Silentrs757352331G944G0.26
UCECchr1093373018Missense_MutationNAR790Q0.48
UCECchr1093452075Missense_MutationnovelD71Y0.6
UCECchr1093351688Nonsense_MutationnovelE1214*0.16
UCECchr1093456916Missense_MutationnovelK37T0.63
UCECchr1093361466Missense_Mutationrs371303456A987V0.41
UCECchr1093379907Missense_MutationNAR653C0.29
UCECchr1093329715Missense_Mutationrs372110838R1644Q0.39
UCECchr1093351524SilentnovelK1237K0.27
UCECchr1093389124Missense_MutationnovelV496A0.24
UCECchr1093396142Missense_MutationnovelD473Y0.29
UCECchr1093409647Frame_Shift_InsnovelA176Nfs*240.05
UCECchr1093366548Missense_MutationnovelN866T0.16
UCECchr1093310041Silentrs747850850A2042A0.46
UCECchr1093373018Missense_MutationNAR790Q0.36
UCECchr1093313035Silentrs145908975G1958G0.07
UCECchr1093359839Silentrs750971795T1038T0.24
UCECchr1093366549Missense_MutationnovelN866D0.19
UCECchr1093431517Splice_SitenovelX79_splice0.33
UCECchr1093478312Intronnovel0.31
UCECchr10933067833'UTRnovel0.33
UCECchr1093313091Missense_MutationnovelL1940I0.4
UCECchr1093316805SilentnovelF1869F0.55
UCECchr1093347767Missense_Mutationrs774761394E1367K0.43
UCECchr1093353829Missense_MutationnovelD1155Y0.51
UCECchr1093359894Missense_Mutationrs761738450R1020Q0.22
UCECchr1093408910SilentnovelR202R0.4
UCECchr1093361470Missense_Mutationrs748167650R986G0.59
UCECchr1093349893Missense_MutationnovelC1333Y0.42
UCECchr1093351545SilentNAS1230S0.47
UCECchr1093323089SilentnovelI1815I0.05
UCECchr1093387867Missense_Mutationrs780055290T543I0.25
UCECchr1093392956Splice_SitenovelX473_splice0.06
UCECchr1093452075Missense_MutationnovelD71Y0.05
UCECchr1093399407SilentnovelS402S0.29
UCECchr1093409634Missense_Mutationrs140215599R180Q0.21
UCECchr1093333254Missense_MutationnovelY1593F0.27
UCECchr1093478270Intronnovel0.36
UCECchr1093356751Missense_Mutationrs755201286R1073H0.41
UCECchr1093402318Missense_MutationNAL302V0.44
UCECchr1093320005Missense_MutationnovelP1822H0.38
UCECchr1093333276Frame_Shift_InsnovelV1586Sfs*30.5
UCECchr1093359932SilentnovelS1007S0.43
UCECchr1093409611Missense_MutationnovelS188G0.27
UCECchr1093347768Missense_MutationnovelE1366D0.39
UCECchr1093333277Frame_Shift_DelnovelV1586Sfs*230.23
UCECchr1093333311Missense_MutationNAC1574Y0.46
UCECchr1093399392Frame_Shift_InsnovelV408Gfs*70.38
UCECchr10933067513'UTRnovel0.38
UCECchr1093351752Missense_MutationNAF1192L0.49
UCECchr1093310065Silentrs776068866L2034L0.41
UCECchr1093355665Silentrs564047354F1122F0.31
UCECchr10933069163'UTRnovel0.32
UCECchr1093335993Missense_MutationNAF1497L0.31
UCECchr1093355686SilentNAK1115K0.31
UCECchr1093310165Missense_Mutationrs765341682R2001Q0.4
UCECchr1093336025Missense_MutationnovelN1487H0.36
UCECchr1093310586Frame_Shift_InsnovelA1983Rfs*600.01
UCECchr1093337833Missense_MutationnovelK1473N0.22
UCECchr1093381387Nonsense_Mutationrs375276858R570*0.31
UCECchr1093401468Missense_Mutationrs758779569R356Q0.24
UCECchr1093409705SilentnovelR156R0.22
UCECchr1093402260Missense_MutationnovelF321C0.42
UCECchr1093408796Missense_MutationnovelF240L0.38
UCECchr1093310567Missense_MutationNAE1989G0.24
UCECchr1093364013Missense_MutationnovelS939N0.12
UCECchr1093374839Missense_MutationNAS742L0.38
UCECchr1093325940Silentrs762125809H1719H0.42
UCECchr1093353867Missense_Mutationrs199761118R1142H0.38
UCECchr1093359941SilentnovelK1004K0.39
UCECchr1093361466Missense_Mutationrs371303456A987V0.34
UCECchr1093381387Nonsense_Mutationrs375276858R570*0.11
UCECchr1093313036Missense_MutationnovelG1958D0.24
UCECchr1093323109Nonsense_MutationnovelG1809*0.38
UCECchr1093333303Missense_MutationnovelY1577H0.26
UCECchr1093333834Missense_MutationnovelS1548N0.39
UCSchr1093402875Missense_MutationnovelV287F0.24
UVMchr1093408846Missense_Mutationrs762578223V224I0.52
UVMchr1093431453Silentrs756928666P100P0.48
UVMchr1093351691Missense_MutationnovelM1213L0.4
UVMchr1093359880Nonsense_Mutationrs775643885R1025*0.21

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
ACCDEL0.10.19593
CHOLDEL0.16670.048655
COADDEL0.17079.4741e-07
MESODEL0.26440.00015289
PAADDEL0.13040.169
READDEL0.24850.014135
THCADEL0.0180.011063
THYMDEL0.03250.10563
UCSDEL0.28570.1218

Survival Analysis
CancerP-value Q-value
HNSC0.0038

Kaplan-Meier Survival Analysis

SKCM0.0058

Kaplan-Meier Survival Analysis

BRCA0.038

Kaplan-Meier Survival Analysis

TGCT0.047

Kaplan-Meier Survival Analysis

COAD0.019

Kaplan-Meier Survival Analysis

PAAD0.0002

Kaplan-Meier Survival Analysis

LAML0.00012

Kaplan-Meier Survival Analysis

GBM0.03

Kaplan-Meier Survival Analysis

LGG0.0001

Kaplan-Meier Survival Analysis

LUAD0.018

Kaplan-Meier Survival Analysis

UVM0.046

Kaplan-Meier Survival Analysis

Drugs

Select Dataset :


Input Drug :


Input Cell Line :


Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742

  • Description
  • RBPome
  • Expression
  • Transcripts
  • Gene Model
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000138119 (Gene tree)
Gene ID
26509
Gene Symbol
MYOF
Alias
KIAA1207|FER1L3
Full Name
myoferlin
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Minus strand
Length
176,058 bases
Position
chr10:93,306,429-93,482,486
Accession
3656
RBP type
non-canonical RBP
Summary
Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]
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
ENST00000475358MYOF-207483--- (aa)--
ENST00000485212MYOF-208697--- (aa)--
ENST00000488645MYOF-209627--- (aa)--
ENST00000359263MYOF-2026719XM_005269693ENSP000003522082061 (aa)XP_005269750Q9NZM1
ENST00000474161MYOF-206462--- (aa)--
ENST00000463743MYOF-2054812-ENSP000004327081177 (aa)-H0YD14
ENST00000371488MYOF-203763-ENSP00000360543160 (aa)-Q9NZM1
ENST00000371489MYOF-2041519-ENSP00000360544445 (aa)-Q9NZM1
ENST00000358334MYOF-2016680XM_005269694ENSP000003510942048 (aa)XP_005269751Q9NZM1
Gene Model
Click here to download ENSG00000138119's gene model file
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000138119Platelet Count1.6010000E-005-
ENSG00000138119Blood Pressure1.4518357E-005-
ENSG00000138119Platelet Function Tests1.9760652E-007-
ENSG00000138119Platelet Function Tests3.4479588E-006-
ENSG00000138119Platelet Function Tests8.0763907E-006-
ENSG00000138119Platelet Function Tests3.8621463E-006-
ENSG00000138119Platelet Function Tests3.8621463E-006-
ENSG00000138119Platelet Function Tests3.7219937E-006-
ENSG00000138119Platelet Function Tests8.6892534E-006-
ENSG00000138119Platelet Function Tests4.1681734E-006-
ENSG00000138119Platelet Function Tests4.1681734E-006-
ENSG00000138119Platelet Function Tests6.7968138E-006-
ENSG00000138119Platelet Function Tests1.1632000E-005-
ENSG00000138119Platelet Function Tests7.1090000E-007-
ENSG00000138119Platelet Function Tests1.8881000E-005-
ENSG00000138119Platelet Function Tests3.6871000E-006-
ENSG00000138119Platelet Function Tests7.2979000E-007-
ENSG00000138119Platelet Function Tests3.1085000E-006-
ENSG00000138119Platelet Function Tests1.9196000E-006-
ENSG00000138119Platelet Function Tests9.5516000E-007-
ENSG00000138119Platelet Function Tests2.1436000E-007-
ENSG00000138119Dextroamphetamine5.0163000E-005-
ENSG00000138119Blood Pressure1.7784316E-006-
ENSG00000138119Arterial Pressure2.9165284E-006-
ENSG00000138119Gastrointestinal Microbiome9E-626528553
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000138119rs7876651093312779?Gut microbiome composition (summer)26528553[0.55-1.31] unit increase0.9299066EFO_0007753
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000138119's network

* RBP PPI network refers to all genes directly bind to RBP
Orthologs identified by RBPome
Ensembl IDGene SymbolCoverageIdentiy OrthologGene SymbolCoverageIdentiy Species
ENSG00000138119MYOF10093.994ENSMUSG00000048612Myof10093.994Mus_musculus
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0001778plasma membrane repair-ISSProcess
GO:0005515protein binding17185750.24687993.IPIFunction
GO:0005543phospholipid binding11959863.IDAFunction
GO:0005543phospholipid binding-ISSFunction
GO:0005635nuclear envelope10607832.TASComponent
GO:0005886plasma membrane-IDAComponent
GO:0005901caveola-ISSComponent
GO:0006071glycerol metabolic process-IEAProcess
GO:0006936muscle contraction10607832.TASProcess
GO:0007520myoblast fusion-IEAProcess
GO:0008015blood circulation10607832.TASProcess
GO:0016021integral component of membrane-IEAComponent
GO:0030659cytoplasmic vesicle membrane-IEAComponent
GO:0030947regulation of vascular endothelial growth factor receptor signaling pathway-IEAProcess
GO:0031410cytoplasmic vesicle11959863.IDAComponent
GO:0031965nuclear membrane-IEAComponent
GO:0033292T-tubule organization-IEAProcess
GO:0034605cellular response to heat-IEAProcess
GO:0043231intracellular membrane-bounded organelle-IDAComponent
GO:0048747muscle fiber development-IEAProcess
GO:0070062extracellular exosome19056867.21362503.23533145.HDAComponent
To top

Copyright © , Bioinformatics Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, China. All Rights Reserved.

Any comment and suggestion, please contact us