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
28394261Folate cycle enzyme MTHFD1L confers metabolic advantages in hepatocellular carcinoma.J Clin Invest2017 May 1Lee Ddoi: 10.1172/JCI90253
29171320The role of mitochondrial folate enzyme MTHFD1L in esophageal squamous cell carcinoma.Scand J Gastroenterol2018 MayYang YSdoi: 10.1080/00365521.2017.1407440

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
ACCchr6150960381Missense_MutationnovelD637V0.29
ACCchr6150972003SilentnovelS690S0.11
BLCAchr6150922286Missense_Mutationrs775876412L356F0.35
BLCAchr6150926119Splice_Regionnovel0.29
BLCAchr6150887945Missense_MutationnovelM248I0.1
BLCAchr6150905656Missense_MutationnovelE263K0.4
BLCAchr6150949056Missense_MutationNAP550L0.47
BLCAchr6151041822Intronnovel0.33
BLCAchr6151013795Missense_MutationnovelP761H0.06
BLCAchr6151013789Missense_MutationnovelG759D0.35
BLCAchr6150882819Nonsense_MutationNAQ159*0.24
BLCAchr6150944563Missense_MutationnovelR506S0.63
BLCAchr6150882768Missense_MutationnovelD142H0.15
BLCAchr6150956037Missense_MutationnovelG590E0.32
BLCAchr6150876156Silentrs149044401P98P0.4
BLCAchr6150922280Nonsense_MutationnovelQ354*0.23
BRCAchr6150926123Missense_MutationNAD362N0.28
BRCAchr6150922290Missense_MutationnovelS357C0.09
BRCAchr6150926249Missense_MutationnovelE404Q0.14
BRCAchr6150887856Missense_MutationNAD219Y0.21
BRCAchr6151036995Nonsense_MutationnovelK909*0.1
BRCAchr6150885722Missense_MutationNAL211V0.48
BRCAchr6150960289Silentrs146649976I606I0.34
BRCAchr6151013788Missense_MutationNAG759S0.24
BRCAchr6150926160Frame_Shift_DelnovelV376Cfs*210.17
BRCAchr6150972018Silentrs768742311D695D0.11
BRCAchr6150956011SilentNAD581D0.29
CESCchr61511016263'UTRnovel0.33
CESCchr6151015529Missense_MutationnovelA808T0.43
CESCchr6150964979Missense_MutationNAG652D0.31
CESCchr6151092533Missense_MutationNAE972Q0.44
COADchr6151009927Missense_Mutationrs566588384R745Q0.38
COADchr6151034499Missense_MutationNAI865L0.43
COADchr6150877643Missense_Mutationrs116360932D108N0.11
COADchr6150936927Silentrs371570169T460T0.21
COADchr6150944512Missense_MutationnovelI489M0.23
COADchr6150949106Missense_Mutationrs139147258D567N0.23
COADchr6150876134Frame_Shift_Delrs769597461N93Tfs*180.26
COADchr6150922235Missense_Mutationrs766519360R339C0.21
COADchr6150944549Missense_Mutationrs751750277A502T0.33
COADchr6151015528Silentrs563825223R807R0.11
COADchr6151036987Missense_MutationnovelC906Y0.08
COADchr6150949123SilentnovelT572T0.08
COADchr6150960289Silentrs146649976I606I0.29
COADchr6150944548Silentrs140112064A501A0.44
COADchr6150926276Missense_MutationNAK413Q0.29
COADchr6150956023Frame_Shift_DelnovelI587*0.1
COADchr6150944555Missense_MutationNAD504Y0.25
COADchr6150960338Missense_MutationNAA623T0.28
COADchr6150918626SilentNAE314E0.22
ESCAchr6150971986Missense_Mutationrs780895264I685V0.21
ESCAchr6150926252Missense_MutationnovelR405G0.19
GBMchr6150944554SilentnovelI503I0.39
GBMchr6151015564Silentrs769826145R819R0.41
GBMchr6150960277Splice_Regionrs146093887A602A0.36
GBMchr6151015666SilentNAS853S0.07
HNSCchr6151009913Missense_MutationnovelL740F0.14
HNSCchr6150971954Missense_MutationnovelP674H0.21
HNSCchr6150918582Missense_MutationnovelV300I0.37
HNSCchr6150922293Frame_Shift_DelnovelP358Rfs*40.14
HNSCchr6151015529Missense_MutationnovelA808T0.07
HNSCchr6150944581Silentrs186295565T512T0.32
LAMLchr6150922217Missense_MutationnovelS333G0.1
LGGchr6150882808Missense_MutationnovelG155D0.28
LIHCchr6150944587SilentnovelT514T0.29
LUADchr6150926273Nonsense_MutationNAG412*0.49
LUADchr6150944543Missense_MutationnovelA500S0.27
LUADchr6151036978Missense_MutationnovelL903S0.11
LUADchr6151036963Splice_SitenovelX899_splice0.31
LUADchr6151009922SilentnovelT743T0.23
LUADchr6151041816Intronnovel0.24
LUADchr6151041817Intronnovel0.23
LUADchr6150956037Missense_MutationnovelG590V0.45
LUADchr6150887936SilentNAS245S0.25
LUADchr6151092478Missense_MutationNAM953I0.24
LUADchr6150956059SilentnovelG597G0.1
LUADchr6150918627Nonsense_MutationnovelE315*0.28
LUADchr6150926261Missense_MutationNAD408N0.14
LUADchr6151037098Missense_MutationNAI943T0.22
LUADchr6150926243Missense_MutationnovelV402L0.07
LUSCchr6151015527Missense_MutationnovelR807L0.19
LUSCchr6150926243Missense_Mutationrs751475807V402M0.23
LUSCchr6150971962Missense_MutationNAV677L0.31
LUSCchr6151009924Missense_MutationnovelV744A0.11
LUSCchr6150960310Missense_MutationnovelM613I0.19
LUSCchr6150960311Missense_MutationnovelA614S0.18
LUSCchr6151009929Missense_MutationNAA746T0.06
LUSCchr6150926234Missense_Mutationrs151023222R399C0.08
LUSCchr6150964968Splice_SitenovelX649_splice0.15
LUSCchr6151034558SilentnovelL884L0.19
LUSCchr6150877669Silentrs138271579Q116Q0.38
OVchr6151015550Missense_MutationNAE815Q0.17
OVchr6151037009Frame_Shift_DelNAL914Gfs*140.81
OVchr6151092478Missense_MutationnovelM953I0.05
OVchr6151009881Missense_MutationnovelA730P0.09
OVchr6151009883SilentnovelA730A0.06
OVchr6151009940Missense_MutationNAM749I0.34
OVchr6151092501Nonsense_MutationnovelC961*0.06
OVchr6151037035Missense_MutationNAG922D0.44
PAADchr6150960338Missense_MutationNAA623T0.19
PRADchr6150887921Frame_Shift_DelnovelQ241Rfs*60.3
PRADchr6150922247Missense_MutationNAH343Y0.28
PRADchr6150918620SilentnovelL312L0.11
PRADchr6150926234Missense_Mutationrs151023222R399C0.47
PRADchr6151034600Missense_MutationnovelQ898H0.48
READchr6150918661Missense_MutationNAR326Q0.23
READchr6150922235Missense_Mutationrs766519360R339C0.45
READchr6151009856Missense_MutationnovelE721D0.42
READchr6151036977Missense_MutationNAL903V0.05
READchr6151092518Missense_MutationNAL967I0.33
SARCchr6150885675Missense_MutationnovelA195G0.47
SKCMchr6150960370SilentnovelV633V0.27
SKCMchr6151034563Missense_MutationnovelP886L0.09
SKCMchr6150885707Missense_MutationNAA206T0.39
SKCMchr6151009886Silentrs747201948S731S0.21
STADchr6151013785Missense_MutationNAA758T0.42
STADchr6150960277Splice_Regionrs146093887A602A0.38
STADchr6151034590Missense_Mutationrs770387415Y895C0.36
STADchr6151009929Missense_MutationnovelA746P0.1
STADchr6150918661Missense_MutationNAR326Q0.59
STADchr6150882785Silentrs569968062I147I0.38
STADchr6150876145Missense_Mutationrs771532672A95T0.31
STADchr6151009926Nonsense_MutationNAR745*0.07
STADchr6151015620Nonsense_MutationNAS838*0.15
STADchr6150960350Missense_MutationnovelA627T0.41
STADchr6150922210Missense_MutationnovelM330I0.32
STADchr6150960383Missense_MutationnovelK638E0.29
UCECchr6150956016Missense_MutationNAF583C0.31
UCECchr6151009879Missense_Mutationrs570312042R729Q0.51
UCECchr6150877661Missense_MutationnovelI114L0.32
UCECchr6150949100Missense_Mutationrs367558632D565N0.13
UCECchr6150945511Missense_MutationNAE531D0.11
UCECchr6151034586Missense_Mutationrs377525704R894C0.51
UCECchr6151092511SilentnovelD964D0.25
UCECchr6150918661Missense_MutationNAR326Q0.49
UCECchr6150956046Missense_MutationNAN593S0.14
UCECchr6151009882Missense_MutationnovelA730D0.09
UCECchr6151014958Missense_MutationNAV796M0.24
UCECchr6151037097Missense_MutationNAI943V0.37
UCECchr6150926148Missense_MutationNAT370S0.29
UCECchr6150944555Missense_MutationNAD504N0.43
UCECchr6150926123Missense_MutationNAD362Y0.53
UCECchr6150887926Missense_MutationnovelR242I0.53
UCECchr6150945509Nonsense_MutationnovelE531*0.43
UCECchr6151015671Missense_MutationnovelF855S0.16
UCECchr6151015672SilentnovelF855F0.35
UCECchr6150887948Missense_MutationnovelS249R0.48
UCECchr61511017563'UTRnovel0.46
UCECchr6150882870Frame_Shift_InsnovelD178Rfs*200.37
UCECchr6150918660Nonsense_MutationNAR326*0.43
UCECchr6150956059SilentnovelG597G0.4
UCECchr6151015520Missense_Mutationrs191699496D805N0.31
UCECchr6151041785Intronnovel0.41
UCECchr6150926234Missense_Mutationrs151023222R399C0.51
UCECchr6150949028Splice_Regionnovel0.32
UCECchr6150882832Missense_MutationnovelN163T0.3
UCECchr6150936871Missense_Mutationrs769162434A442T0.57
UCECchr6150949100Missense_Mutationrs367558632D565N0.54
UCECchr6150877643Missense_Mutationrs116360932D108N0.3
UCECchr6150926209SilentnovelI390I0.12
UCECchr6150960277Splice_Regionrs146093887A602A0.46
UCECchr6150936870Silentrs144622007T441T0.31
UCECchr6150949105SilentNAI566I0.34
UCECchr6150971995Missense_MutationNAG688S0.29
UCECchr6150944507Missense_MutationnovelD488Y0.37
UCECchr6150949123SilentnovelT572T0.33
UCECchr6151092548Missense_MutationnovelL977V0.48
UCECchr6150918661Missense_MutationNAR326Q0.32
UCECchr6151034586Missense_Mutationrs377525704R894C0.13
UCECchr61511016823'UTRnovel0.18
UCECchr6150887871Missense_MutationnovelL224V0.33
UCECchr61511017573'UTRnovel0.65
UCECchr6150971995Missense_MutationNAG688S0.48
UCECchr61511016373'UTRnovel0.32
UCECchr6150918648Missense_MutationnovelA322T0.29
UCECchr6150960333Missense_MutationnovelS621N0.29
UCECchr6150945509Nonsense_MutationnovelE531*0.44
UCECchr6150882874Missense_MutationNAK177T0.25
UCECchr6150971995Missense_MutationNAG688S0.1
UCECchr6150918588Missense_MutationnovelC302R0.41
UCECchr6150960302Missense_MutationnovelE611K0.35

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
BLCADEL0.36030.00027473
KIRCDEL0.24437.439e-11
KIRPDEL0.10760.054498
LGGDEL0.14230.0054594
MESODEL0.43680.05642
PAADDEL0.3750.11274
SKCMDEL0.55591.5442e-06
THYMDEL0.14630.10691
UVMDEL0.2750.0054289

Survival Analysis
CancerP-value Q-value
KIRC0.026

Kaplan-Meier Survival Analysis

ACC0.039

Kaplan-Meier Survival Analysis

HNSC0.0084

Kaplan-Meier Survival Analysis

SKCM0.00019

Kaplan-Meier Survival Analysis

BRCA0.043

Kaplan-Meier Survival Analysis

KIRP0.00032

Kaplan-Meier Survival Analysis

PAAD0.044

Kaplan-Meier Survival Analysis

BLCA0.0014

Kaplan-Meier Survival Analysis

CESC0.0035

Kaplan-Meier Survival Analysis

READ0.0012

Kaplan-Meier Survival Analysis

UCEC0.0019

Kaplan-Meier Survival Analysis

LIHC0.0001

Kaplan-Meier Survival Analysis

LGG0.021

Kaplan-Meier Survival Analysis

LUAD0.0015

Kaplan-Meier Survival Analysis

  • Description
  • RBPome
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Orthologs
  • Gene Ontology
Description
Ensembl ID
ENSG00000120254 (Gene tree)
Gene ID
25902
Gene Symbol
MTHFD1L
Alias
DKFZP586G1517|FLJ21145|FTHFSDC1
Full Name
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Plus strand
Length
236,339 bases
Position
chr6:150,865,549-151,101,887
Accession
21055
RBP type
non-canonical RBP
Summary
The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 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 & MCF72018 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 & U2OS2019 Jan 3Queiroz RMLDOI: 10.1038/s41587-018-0001-2
Expression
Transcripts
Transcript IDNameLengthRefSeq ID Protein IDLengthRefSeq IDUniportKB ID
ENST00000611279MTHFD1L-2113475XM_005266911ENSP00000478253979 (aa)XP_005266968B7ZM99
ENST00000367321MTHFD1L-2033604XM_005266907ENSP00000356290978 (aa)XP_005266964Q6UB35
ENST00000423867MTHFD1L-206524-ENSP00000400776114 (aa)-Q5JYA3
ENST00000618312MTHFD1L-2123159XM_011535730ENSP00000479539913 (aa)XP_011534032A0A087WVM4
ENST00000441122MTHFD1L-2071134-ENSP00000407070108 (aa)-Q5JYA8
ENST00000420192MTHFD1L-204606-ENSP0000039515896 (aa)-Q4VXV2
ENST00000421497MTHFD1L-205373--- (aa)--
ENST00000367308MTHFD1L-202996XM_024446396ENSP00000356277332 (aa)XP_024302164H0Y327
ENST00000478643MTHFD1L-210421--- (aa)--
ENST00000367307MTHFD1L-2011049-ENSP00000356276275 (aa)-Q6UB35
ENST00000453602MTHFD1L-209503-ENSP0000039102292 (aa)-Q4VXM0
ENST00000450635MTHFD1L-208427-ENSP0000039980457 (aa)-Q4VXM1
Gene Model
Click here to download ENSG00000120254's gene model file
Pathways
Pathway IDPathway NameSource
hsa00670One carbon pool by folateKEGG
hsa01100Metabolic pathwaysKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000120254Respiratory Function Tests3.85504303519468E-517903307
ENSG00000120254Body Mass Index4.14939035831008E-517903300
ENSG00000120254Body Mass Index5.37691608886963E-617903300
ENSG00000120254Body Mass Index4.73950542678736E-617903300
ENSG00000120254Body Mass Index9.47239859660896E-817903300
ENSG00000120254Body Weight3.78872399011687E-517903300
ENSG00000120254Aorta8.3543782868123E-517903303
ENSG00000120254Aorta8.74531513195276E-517903303
ENSG00000120254Stroke3.3014086E-00419369658
ENSG00000120254Cholesterol2.203e-005-
ENSG00000120254Arteries1.6540000E-005-
ENSG00000120254Vascular Diseases6.1500000E-006-
ENSG00000120254Coronary Disease3E-817634449
ENSG00000120254Schizophrenia1E-626198764
ENSG00000120254Alzheimer Disease2E-1020885792
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000120254rs5247326150993705ASchizophrenia26198764[NR]1.06EFO_0000692
ENSG00000120254rs117546616150885942AAlzheimer's disease (late onset)20885792[1.67-2.64]2.1EFO_0000249
ENSG00000120254rs69222696150931849ACoronary heart disease17634449[1.15-1.33]1.23EFO_0001645
ENSG00000120254rs93973656150915044GPeripheral arterial disease (traffic-related air pollution interaction)27082954[19.58-22.56]21.07EFO_0004265|EFO_0007908
ENSG00000120254rs131931766150945734?DNA methylation variation (age effect)30348214GO_0006306
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000120254's network

* RBP PPI network refers to all genes directly bind to RBP
Orthologs identified by RBPome
Ensembl IDGene SymbolCoverageIdentiy OrthologGene SymbolCoverageIdentiy Species
ENSG00000120254MTHFD1L9796.774ENSMUSG00000040675Mthfd1l10088.344Mus_musculus
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0001843neural tube closure-ISSProcess
GO:0004329formate-tetrahydrofolate ligase activity21873635.IBAFunction
GO:0004329formate-tetrahydrofolate ligase activity12937168.IDAFunction
GO:0004488methylenetetrahydrofolate dehydrogenase (NADP+) activity-IEAFunction
GO:0005524ATP binding16171773.IDAFunction
GO:0005737cytoplasm21873635.IBAComponent
GO:0005739mitochondrion21873635.IBAComponent
GO:0005739mitochondrion12937168.IDAComponent
GO:0005759mitochondrial matrix-TASComponent
GO:0006760folic acid-containing compound metabolic process12937168.IDAProcess
GO:0009113purine nucleobase biosynthetic process21873635.IBAProcess
GO:000925710-formyltetrahydrofolate biosynthetic process21873635.IBAProcess
GO:000925710-formyltetrahydrofolate biosynthetic process12937168.IDAProcess
GO:0015942formate metabolic process16171773.IDAProcess
GO:0016020membrane19946888.HDAComponent
GO:0035999tetrahydrofolate interconversion-IEAProcess
GO:0042803protein homodimerization activity16171773.IDAFunction
GO:0046655folic acid metabolic process-TASProcess
GO:0048702embryonic neurocranium morphogenesis-ISSProcess
GO:0048703embryonic viscerocranium morphogenesis-ISSProcess
GO:0055114oxidation-reduction process-IEAProcess
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