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
27597531Murine MTHFD1-synthetase deficiency, a model for the human MTHFD1 R653Q polymorphism, decreases growth of colorectal tumors.Mol Carcinog2017 MarL??vesque Ndoi: 10.1002/mc.22568
30343310Methylenetetrahydrofolate Dehydrogenase 1 Silencing Expedites the Apoptosis of Non-Small Cell Lung Cancer Cells via Modulating DNA Methylation.Med Sci Monit2018 Oct 21Ding Kdoi: 10.12659/MSM.910265.
28968444One-carbon genetic variants and the role of MTHFD1 1958G>A in liver and colon cancer risk according to global DNA methylation.PLoS One2017 Oct 2Moruzzi Sdoi: 10.1371/journal.pone.0185792
21349258Folate and choline metabolism gene variants and development of uterine cervical carcinoma.Clin Biochem2011 JunMostowska Adoi: 10.1016/j.clinbiochem.2011.02.007
21090237[Polymorphic variants of folate metabolizing genes (C677T and A1298C MTHFR, C1420T SHMT1 and G1958A MTHFD) are not associated with the risk of breast cancer in West Siberian Region of Russia].Mol Biol (Mosk)2010 Sep-OctVaner AS-
23894459Association of methylenetetrahydrofolate dehydrogenase 1 polymorphisms with cancer: a meta-analysis.PLoS One2013 Jul 19Zhang Hdoi: 10.1371/journal.pone.0069366
24197977Lack of association between methylenetetrahydrofolate dehydrogenase 1 G1958A polymorphism and prostate cancer risk: a meta-analysis.Tumour Biol2014 MarLiu Gdoi: 10.1007/s13277-013-1269-y
19649727Polymorphic variants of folate metabolism genes and the risk of laryngeal cancer.Mol Biol Rep2010 JanKruszyna doi: 10.1007/s11033-009-9643-y
24287951Lack of association between MTHFD1 G401A polymorphism and ovarian cancer susceptibility.Tumour Biol2014 AprCui Ydoi: 10.1007/s13277-013-1446-z

Differential Expression

Expression in 33 cancers

Mutations
CancerChrPosition Mutation TypedbSNPProtein-change Allele FreqRBD
BLCAchr14643882965'Flanknovel0.18
BLCAchr1464411100Missense_MutationnovelR46T0.12
BLCAchr1464411134SilentnovelL57L0.15
BLCAchr1464454839Silentrs565206627S894S0.26
BLCAchr1464427345Missense_MutationnovelP379L0.19
BLCAchr1464449455Missense_MutationnovelE764K0.07
BLCAchr1464424854Missense_MutationnovelE260K0.39
BLCAchr1464431583Missense_MutationNAL455F0.61
BLCAchr1464442315Missense_MutationNAI683M0.39
BRCAchr1464454802Missense_MutationnovelT882I0.38
BRCAchr1464431546SilentNAL442L0.26
BRCAchr1464417969Missense_MutationnovelW187L0.1
BRCAchr1464424884Missense_MutationNAP270A0.34
BRCAchr1464449384Intronnovel0.3
BRCAchr1464458213Splice_SiteNAX907_splice0.26
BRCAchr1464440142Missense_MutationNAS564C0.7
BRCAchr14643884035'UTRnovel0.13
BRCAchr1464412471Splice_SiteNAX63_splice0.15
BRCAchr1464412521Missense_MutationNAS79C0.22
BRCAchr1464427447Missense_MutationNAS413F0.94
BRCAchr1464427449Nonsense_MutationNAQ414*0.93
BRCAchr1464431833Missense_MutationNAF489Y0.69
BRCAchr1464400853SilentNAF34F0.46
BRCAchr1464424858Missense_MutationNAA261V0.14
CESCchr1464431538Missense_MutationNAL440F0.58
CESCchr1464430211Missense_MutationNAQ431R0.57
CESCchr1464415431Missense_MutationnovelS105L0.11
CHOLchr14644598793'UTRnovel0.45
COADchr14643883265'Flanknovel0.29
COADchr1464440146SilentNAV565V0.26
COADchr1464388460Missense_MutationnovelE11D0.38
COADchr1464427429Missense_MutationnovelA407V0.36
COADchr1464431593Missense_MutationnovelA458V0.37
COADchr1464454822Missense_MutationNAR889C0.13
COADchr1464442303Frame_Shift_InsnovelN682*0.41
COADchr1464441453Missense_MutationnovelE628D0.31
COADchr1464442096Missense_Mutationrs765252643A643T0.25
COADchr1464415485Missense_MutationnovelD123G0.05
COADchr1464440238Missense_MutationNAK596T0.08
COADchr1464431595Missense_MutationNAA459T0.37
COADchr1464424808Frame_Shift_InsnovelP247Tfs*90.28
COADchr1464440167SilentnovelV572V0.26
DLBCchr1464454731SilentnovelG858G0.36
ESCAchr1464453832Nonsense_MutationnovelQ846*0.18
GBMchr1464449548Missense_MutationnovelA795T0.07
GBMchr1464415464Missense_MutationNAN116S0.34
GBMchr1464454780Missense_MutationnovelP875A0.07
GBMchr1464458281Frame_Shift_InsnovelE929Dfs*200.08
GBMchr1464424930Missense_MutationnovelQ285R0.16
HNSCchr1464431593Missense_MutationnovelA458V0.24
HNSCchr1464426194Splice_SitenovelX376_splice0.12
HNSCchr1464440239SilentnovelK596K0.29
HNSCchr1464449536Frame_Shift_DelnovelG792Afs*50.26
HNSCchr1464435614Missense_MutationnovelE514Q0.15
HNSCchr1464415392Missense_MutationnovelS92C0.23
HNSCchr1464427412SilentnovelL401L0.05
HNSCchr1464442137SilentnovelL656L0.49
HNSCchr1464440151Frame_Shift_DelnovelE568Cfs*240.47
HNSCchr14643882985'Flanknovel0.5
HNSCchr1464424833Missense_MutationnovelV253L0.09
HNSCchr14643882875'Flankrs5779740810.21
HNSCchr1464424895Silentrs769272465G273G0.26
KIRCchr1464388462Missense_MutationNAI12N0.7
KIRPchr1464448260Frame_Shift_DelnovelQ741Hfs*20.34
KIRPchr1464448307Missense_MutationNAN757H0.2
KIRPchr1464458224Missense_MutationNAM910T0.44
KIRPchr1464449312Intronnovel0.8
LGGchr1464412521Missense_MutationnovelS79F0.36
LGGchr1464449511SilentnovelA782A0.41
LIHCchr1464454741Missense_MutationnovelI862L0.25
LIHCchr1464419887Missense_MutationNAG230V0.53
LIHCchr1464448237SilentNAK733K0.06
LIHCchr1464453838Missense_MutationnovelK848Q0.42
LUADchr1464415393Frame_Shift_DelnovelV94Wfs*150.1
LUADchr1464449433Splice_Regionnovel0.41
LUADchr1464415433Missense_MutationnovelE106Q0.1
LUADchr1464444703Missense_MutationNAG716E0.05
LUADchr1464439167Missense_Mutationrs776643263R557W0.12
LUSCchr1464415377Missense_MutationnovelS87C0.48
LUSCchr1464415363Missense_MutationNAM82I0.12
LUSCchr1464440270Splice_Regionnovel0.12
LUSCchr1464454825Missense_Mutationrs750902671D890N0.06
LUSCchr1464431627SilentNAT469T0.19
LUSCchr1464442060Missense_MutationNAP631A0.24
LUSCchr1464424865Missense_MutationnovelE263D0.41
LUSCchr1464431567SilentnovelI449I0.43
OVchr14643884155'UTRnovel0.25
OVchr1464427345Missense_MutationnovelP379Q0.06
OVchr1464454807Missense_MutationnovelF884I0.08
OVchr1464449498Missense_MutationnovelG778V0.06
OVchr1464458242Frame_Shift_InsnovelP917Afs*50.07
OVchr1464419824Missense_MutationNAG209A0.14
PAADchr14643882635'Flanknovel0.1
PRADchr1464424801Splice_Regionnovel0.2
READchr1464453825SilentNAP843P0.19
READchr1464449429Intronnovel0.42
SARCchr1464417960Frame_Shift_InsnovelL185Afs*200.24
SKCMchr1464454869SilentNAV904V0.33
SKCMchr14643882965'Flanknovel0.63
SKCMchr1464425783Nonsense_MutationNAW303*0.33
SKCMchr1464431546SilentNAL442L0.79
SKCMchr1464444714Missense_MutationnovelP720S0.32
SKCMchr14643883265'Flanknovel0.22
SKCMchr1464426071Nonsense_MutationnovelR336*0.34
SKCMchr1464442330Silentrs773494969S688S0.56
SKCMchr1464430224Missense_MutationNAM435I0.46
SKCMchr14643882355'Flanknovel0.38
SKCMchr1464412512Missense_MutationNAT76I0.16
SKCMchr1464430228Missense_MutationNAE437K0.1
SKCMchr1464454740SilentnovelP861P0.43
SKCMchr1464440172Missense_MutationNAA574V0.36
SKCMchr1464415440Missense_MutationNAS108F0.88
SKCMchr1464426062Missense_MutationNAK333E0.41
SKCMchr1464442386Missense_MutationnovelH707L0.1
SKCMchr1464442387Silentrs376487146H707H0.1
SKCMchr1464431585Silentrs747837982L455L0.62
SKCMchr1464418026Splice_SiteNAX205_splice0.1
STADchr14643883995'UTRnovel0.33
STADchr1464424835SilentnovelV253V0.13
STADchr1464449559SilentnovelL798L0.5
STADchr1464454825Missense_Mutationrs750902671D890N0.25
STADchr1464427342Missense_MutationnovelT378I0.41
STADchr1464430211Missense_MutationNAQ431R0.24
STADchr1464400831Missense_MutationNAL27S0.3
STADchr1464442083Silentrs143959060P638P0.21
THCAchr1464442112Missense_MutationNAS648F0.07
THYMchr14643883755'UTRnovel0.12
THYMchr1464448253In_Frame_DelnovelK739_Q741del0.37
UCECchr1464426177Missense_MutationNAY371C0.26
UCECchr1464419901Missense_Mutationrs202026193D235N0.27
UCECchr1464440157Missense_MutationnovelI569S0.05
UCECchr1464442131SilentNAI654I0.4
UCECchr1464449360Intronnovel0.37
UCECchr1464400860Missense_Mutationrs111509453R37C0.26
UCECchr14643882665'Flankrs7534320710.34
UCECchr1464419889Missense_MutationnovelA231T0.31
UCECchr1464454791Missense_MutationnovelK878N0.29
UCECchr1464454822Missense_MutationNAR889C0.5
UCECchr1464424808Frame_Shift_InsnovelP247Tfs*90.36
UCECchr1464454874Missense_Mutationrs371285981T906M0.21
UCECchr14643881965'Flanknovel0.47
UCECchr1464442402Splice_Regionrs150796086T712T0.27
UCECchr1464449379Intronnovel0.4
UCECchr1464412521Missense_MutationnovelS79F0.35
UCECchr1464442095Silentrs761913080I642I0.4
UCECchr14644598703'UTRnovel0.45
UCECchr1464411124Missense_MutationnovelN54I0.23
UCECchr1464449530Missense_MutationnovelA789T0.1
UCECchr14643881825'Flanknovel0.38
UCECchr1464440270Splice_Regionnovel0.41
UCECchr1464442331Missense_Mutationrs749310643G689S0.38
UCECchr1464449437Splice_Regionnovel0.31
UCECchr1464427437Nonsense_MutationNAR410*0.35
UCECchr1464454787Frame_Shift_DelnovelG879Vfs*250.15
UCECchr1464426178Silentrs187474222Y371Y0.3
UCECchr1464440145Missense_MutationnovelV565A0.24
UCECchr1464448276SilentnovelR746R0.41
UCECchr1464454822Missense_MutationNAR889C0.14
UCECchr1464417920Missense_MutationnovelV171I0.43
UCECchr1464412500Nonsense_MutationnovelL72*0.38
UCECchr1464417926Missense_Mutationrs141210410R173C0.42
UCECchr14644598213'UTRnovel0.33
UCECchr1464411122SilentnovelI53I0.16
UCECchr1464442132Missense_MutationnovelA655T0.08
UCECchr1464458240SilentnovelT915T0.32
UCECchr1464415741Splice_SiteNAX160_splice0.42
UCECchr1464426139SilentnovelS358S0.14
UCECchr1464454831Missense_MutationnovelR892C0.27
UCECchr1464449384Intronnovel0.5
UCECchr14643883035'Flanknovel0.32
UCECchr1464426162Missense_Mutationrs540581926R366Q0.48
UCECchr1464442397Missense_MutationnovelP711S0.31
UCECchr1464449511SilentnovelA782A0.51
UCECchr1464448304Missense_MutationNAV756M0.32
UCECchr1464439132Missense_MutationNAT545M0.11
UCECchr1464417900Missense_Mutationrs748390032A164V0.37
UCECchr1464442110SilentnovelS647S0.39

Copy Number Variations (CNVs)
CancerTypeFreq Q-value
ACCDEL0.13330.19769
CHOLDEL0.52780.00040262
COADDEL0.2860.050084
GBMDEL0.27215.7274e-07
KIRCDEL0.37880.0074281
KIRPDEL0.16670.085174
LGGDEL0.21051.1681e-13
MESODEL0.39080.088547
OVDEL0.49226.0694e-08
PAADDEL0.05980.11332
READDEL0.35150.189

Survival Analysis
CancerP-value Q-value
THYM0.028

Kaplan-Meier Survival Analysis

STAD0.033

Kaplan-Meier Survival Analysis

SARC0.027

Kaplan-Meier Survival Analysis

MESO0.00022

Kaplan-Meier Survival Analysis

ACC0.00047

Kaplan-Meier Survival Analysis

PAAD0.00038

Kaplan-Meier Survival Analysis

BLCA0.022

Kaplan-Meier Survival Analysis

CESC0.038

Kaplan-Meier Survival Analysis

LAML0.042

Kaplan-Meier Survival Analysis

KICH0.011

Kaplan-Meier Survival Analysis

UCEC0.029

Kaplan-Meier Survival Analysis

LUAD0.00012

Kaplan-Meier Survival Analysis

UVM0.0085

Kaplan-Meier Survival Analysis

OV0.036

Kaplan-Meier Survival Analysis

Drugs

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Eesembl ID



Cell lines and drugs in GSE70138 or GSE92742

  • Description
  • RBPome
  • Expression
  • Transcripts
  • Gene Model
  • Pathways
  • Phenotypes
  • GWAS
  • PPI
  • Gene Ontology
Description
Ensembl ID
ENSG00000100714 (Gene tree)
Gene ID
4522
Gene Symbol
MTHFD1
Alias
MTHFC|MTHFD
Full Name
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
Gene Type
protein_coding
Species
Homo_sapiens
Status
putative
Strand
Plus strand
Length
75,427 bases
Position
chr14:64,388,031-64,463,457
Accession
7432
RBP type
non-canonical RBP
Summary
This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]
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
29431736Capturing the interactome of newly transcribed RNAPolyT-RICK & Hela2018 Feb 12Bao XDOI: 10.1038/nmeth.4595
29431736Capturing the interactome of newly transcribed RNARICK & 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
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
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
ENST00000555709MTHFD1-211803-ENSP00000450560261 (aa)-P11586
ENST00000557370MTHFD1-215571-ENSP00000477199107 (aa)-V9GYY3
ENST00000555858MTHFD1-212386--- (aa)--
ENST00000554057MTHFD1-205560--- (aa)--
ENST00000216605MTHFD1-2013136-ENSP00000216605935 (aa)-P11586
ENST00000554768MTHFD1-209563-ENSP0000047750125 (aa)-V9GZ78
ENST00000555252MTHFD1-2102053--- (aa)--
ENST00000554353MTHFD1-206556--- (aa)--
ENST00000556284MTHFD1-213932--- (aa)--
ENST00000557539MTHFD1-216509-ENSP0000047646868 (aa)-V9GY75
ENST00000554739MTHFD1-208688-ENSP0000047735923 (aa)-V9GZ32
ENST00000553391MTHFD1-203568--- (aa)--
ENST00000545908MTHFD1-2026814-ENSP000004385881020 (aa)-F5H2F4
ENST00000554677MTHFD1-207783--- (aa)--
ENST00000556771MTHFD1-214813--- (aa)--
ENST00000553405MTHFD1-204833--- (aa)--
Gene Model
Click here to download ENSG00000100714's gene model file
Pathways
Pathway IDPathway NameSource
hsa00670One carbon pool by folateKEGG
hsa01100Metabolic pathwaysKEGG
Phenotypes
ensgIDTraitpValuePubmed ID
ENSG00000100714Eosinophils6.4970000E-005-
ENSG00000100714Platelet Function Tests2.3500000E-006-
ENSG00000100714Neuropsychological Tests8E-719734545
GWAS
ensgIDSNPChromosomePositionSNP-risk TraitPubmedID95% CIOr or BEAT EFO ID
ENSG00000100714rs104985141464432337?Cognitive performance19734545EFO_0003926
ENSG00000100714rs22816031464459379CLymphocyte counts27863252[0.022-0.038] unit increase0.02984291EFO_0004587
ENSG00000100714rs65735591464456448TEducational attainment (years of education)30038396[0.0076-0.0134] unit increase0.0105EFO_0004784
ENSG00000100714rs19509021464415662?Longevity30294719[1.34-1.90]1.595EFO_0004300
ENSG00000100714rs37837271464435010?Heel bone mineral density30595370EFO_0009270
Protein-Protein Interaction (PPI)

Clik here to download ENSG00000100714's network

* RBP PPI network refers to all genes directly bind to RBP
Gene Ontology
Go IDGo_termPubmedIDEvidenceCategory
GO:0000105histidine biosynthetic process-IEAProcess
GO:0001780neutrophil homeostasis-IEAProcess
GO:0001843neural tube closure-ISSProcess
GO:0004329formate-tetrahydrofolate ligase activity21873635.IBAFunction
GO:0004329formate-tetrahydrofolate ligase activity1881876.IDAFunction
GO:0004329formate-tetrahydrofolate ligase activity-ISSFunction
GO:0004477methenyltetrahydrofolate cyclohydrolase activity21873635.IBAFunction
GO:0004477methenyltetrahydrofolate cyclohydrolase activity1881876.IDAFunction
GO:0004486methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity1881876.IDAFunction
GO:0004487methylenetetrahydrofolate dehydrogenase (NAD+) activity-ISSFunction
GO:0004488methylenetetrahydrofolate dehydrogenase (NADP+) activity21873635.IBAFunction
GO:0005515protein binding24169621.IPIFunction
GO:0005524ATP binding-IEAFunction
GO:0005737cytoplasm21873635.IBAComponent
GO:0005739mitochondrion3528153.TASComponent
GO:0005829cytosol-IDAComponent
GO:0005829cytosol-TASComponent
GO:0006164purine nucleotide biosynthetic process-ISSProcess
GO:0006555methionine metabolic process-ISSProcess
GO:0006730one-carbon metabolic process25633902.IMPProcess
GO:0007507heart development-ISSProcess
GO:0009069serine family amino acid metabolic process-ISSProcess
GO:0009070serine family amino acid biosynthetic process25633902.IMPProcess
GO:0009086methionine biosynthetic process25633902.IMPProcess
GO:0009113purine nucleobase biosynthetic process21873635.IBAProcess
GO:000925710-formyltetrahydrofolate biosynthetic process21873635.IBAProcess
GO:000925710-formyltetrahydrofolate biosynthetic process1881876.IDAProcess
GO:000925710-formyltetrahydrofolate biosynthetic process-ISSProcess
GO:0016020membrane19946888.HDAComponent
GO:0019346transsulfuration-IEAProcess
GO:0035999tetrahydrofolate interconversion1881876.IDAProcess
GO:0035999tetrahydrofolate interconversion-IEAProcess
GO:0035999tetrahydrofolate interconversion-ISSProcess
GO:0046655folic acid metabolic process-TASProcess
GO:0048702embryonic neurocranium morphogenesis-ISSProcess
GO:0048703embryonic viscerocranium morphogenesis-ISSProcess
GO:0055114oxidation-reduction process-IEAProcess
GO:0061053somite development-ISSProcess
GO:0070062extracellular exosome19056867.20458337.23533145.HDAComponent
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