EuRBPDB

Note: to get the extension of tumor abbreviations.

Cancer Related Information
Basic Information

Cancer associated literatures

PID	Title	Article	Time	Author	Doi
28394261	Folate cycle enzyme MTHFD1L confers metabolic advantages in hepatocellular carcinoma.	J Clin Invest	2017 May 1	Lee D	doi: 10.1172/JCI90253
29171320	The role of mitochondrial folate enzyme MTHFD1L in esophageal squamous cell carcinoma.	Scand J Gastroenterol	2018 May	Yang YS	doi: 10.1080/00365521.2017.1407440

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
ACC	chr6	150960381	Missense_Mutation	novel	D637V	0.29
ACC	chr6	150972003	Silent	novel	S690S	0.11
BLCA	chr6	150922286	Missense_Mutation	rs775876412	L356F	0.35
BLCA	chr6	150926119	Splice_Region	novel		0.29
BLCA	chr6	150887945	Missense_Mutation	novel	M248I	0.1
BLCA	chr6	150905656	Missense_Mutation	novel	E263K	0.4
BLCA	chr6	150949056	Missense_Mutation	NA	P550L	0.47
BLCA	chr6	151041822	Intron	novel		0.33
BLCA	chr6	151013795	Missense_Mutation	novel	P761H	0.06
BLCA	chr6	151013789	Missense_Mutation	novel	G759D	0.35
BLCA	chr6	150882819	Nonsense_Mutation	NA	Q159*	0.24
BLCA	chr6	150944563	Missense_Mutation	novel	R506S	0.63
BLCA	chr6	150882768	Missense_Mutation	novel	D142H	0.15
BLCA	chr6	150956037	Missense_Mutation	novel	G590E	0.32
BLCA	chr6	150876156	Silent	rs149044401	P98P	0.4
BLCA	chr6	150922280	Nonsense_Mutation	novel	Q354*	0.23
BRCA	chr6	150926123	Missense_Mutation	NA	D362N	0.28
BRCA	chr6	150922290	Missense_Mutation	novel	S357C	0.09
BRCA	chr6	150926249	Missense_Mutation	novel	E404Q	0.14
BRCA	chr6	150887856	Missense_Mutation	NA	D219Y	0.21
BRCA	chr6	151036995	Nonsense_Mutation	novel	K909*	0.1
BRCA	chr6	150885722	Missense_Mutation	NA	L211V	0.48
BRCA	chr6	150960289	Silent	rs146649976	I606I	0.34
BRCA	chr6	151013788	Missense_Mutation	NA	G759S	0.24
BRCA	chr6	150926160	Frame_Shift_Del	novel	*V376Cfs21**	0.17
BRCA	chr6	150972018	Silent	rs768742311	D695D	0.11
BRCA	chr6	150956011	Silent	NA	D581D	0.29
CESC	chr6	151101626	3'UTR	novel		0.33
CESC	chr6	151015529	Missense_Mutation	novel	A808T	0.43
CESC	chr6	150964979	Missense_Mutation	NA	G652D	0.31
CESC	chr6	151092533	Missense_Mutation	NA	E972Q	0.44
COAD	chr6	151009927	Missense_Mutation	rs566588384	R745Q	0.38
COAD	chr6	151034499	Missense_Mutation	NA	I865L	0.43
COAD	chr6	150877643	Missense_Mutation	rs116360932	D108N	0.11
COAD	chr6	150936927	Silent	rs371570169	T460T	0.21
COAD	chr6	150944512	Missense_Mutation	novel	I489M	0.23
COAD	chr6	150949106	Missense_Mutation	rs139147258	D567N	0.23
COAD	chr6	150876134	Frame_Shift_Del	rs769597461	*N93Tfs18**	0.26
COAD	chr6	150922235	Missense_Mutation	rs766519360	R339C	0.21
COAD	chr6	150944549	Missense_Mutation	rs751750277	A502T	0.33
COAD	chr6	151015528	Silent	rs563825223	R807R	0.11
COAD	chr6	151036987	Missense_Mutation	novel	C906Y	0.08
COAD	chr6	150949123	Silent	novel	T572T	0.08
COAD	chr6	150960289	Silent	rs146649976	I606I	0.29
COAD	chr6	150944548	Silent	rs140112064	A501A	0.44
COAD	chr6	150926276	Missense_Mutation	NA	K413Q	0.29
COAD	chr6	150956023	Frame_Shift_Del	novel	I587*	0.1
COAD	chr6	150944555	Missense_Mutation	NA	D504Y	0.25
COAD	chr6	150960338	Missense_Mutation	NA	A623T	0.28
COAD	chr6	150918626	Silent	NA	E314E	0.22
ESCA	chr6	150971986	Missense_Mutation	rs780895264	I685V	0.21
ESCA	chr6	150926252	Missense_Mutation	novel	R405G	0.19
GBM	chr6	150944554	Silent	novel	I503I	0.39
GBM	chr6	151015564	Silent	rs769826145	R819R	0.41
GBM	chr6	150960277	Splice_Region	rs146093887	A602A	0.36
GBM	chr6	151015666	Silent	NA	S853S	0.07
HNSC	chr6	151009913	Missense_Mutation	novel	L740F	0.14
HNSC	chr6	150971954	Missense_Mutation	novel	P674H	0.21
HNSC	chr6	150918582	Missense_Mutation	novel	V300I	0.37
HNSC	chr6	150922293	Frame_Shift_Del	novel	*P358Rfs4**	0.14
HNSC	chr6	151015529	Missense_Mutation	novel	A808T	0.07
HNSC	chr6	150944581	Silent	rs186295565	T512T	0.32
LAML	chr6	150922217	Missense_Mutation	novel	S333G	0.1
LGG	chr6	150882808	Missense_Mutation	novel	G155D	0.28
LIHC	chr6	150944587	Silent	novel	T514T	0.29
LUAD	chr6	150926273	Nonsense_Mutation	NA	G412*	0.49
LUAD	chr6	150944543	Missense_Mutation	novel	A500S	0.27
LUAD	chr6	151036978	Missense_Mutation	novel	L903S	0.11
LUAD	chr6	151036963	Splice_Site	novel	X899_splice	0.31
LUAD	chr6	151009922	Silent	novel	T743T	0.23
LUAD	chr6	151041816	Intron	novel		0.24
LUAD	chr6	151041817	Intron	novel		0.23
LUAD	chr6	150956037	Missense_Mutation	novel	G590V	0.45
LUAD	chr6	150887936	Silent	NA	S245S	0.25
LUAD	chr6	151092478	Missense_Mutation	NA	M953I	0.24
LUAD	chr6	150956059	Silent	novel	G597G	0.1
LUAD	chr6	150918627	Nonsense_Mutation	novel	E315*	0.28
LUAD	chr6	150926261	Missense_Mutation	NA	D408N	0.14
LUAD	chr6	151037098	Missense_Mutation	NA	I943T	0.22
LUAD	chr6	150926243	Missense_Mutation	novel	V402L	0.07
LUSC	chr6	151015527	Missense_Mutation	novel	R807L	0.19
LUSC	chr6	150926243	Missense_Mutation	rs751475807	V402M	0.23
LUSC	chr6	150971962	Missense_Mutation	NA	V677L	0.31
LUSC	chr6	151009924	Missense_Mutation	novel	V744A	0.11
LUSC	chr6	150960310	Missense_Mutation	novel	M613I	0.19
LUSC	chr6	150960311	Missense_Mutation	novel	A614S	0.18
LUSC	chr6	151009929	Missense_Mutation	NA	A746T	0.06
LUSC	chr6	150926234	Missense_Mutation	rs151023222	R399C	0.08
LUSC	chr6	150964968	Splice_Site	novel	X649_splice	0.15
LUSC	chr6	151034558	Silent	novel	L884L	0.19
LUSC	chr6	150877669	Silent	rs138271579	Q116Q	0.38
OV	chr6	151015550	Missense_Mutation	NA	E815Q	0.17
OV	chr6	151037009	Frame_Shift_Del	NA	*L914Gfs14**	0.81
OV	chr6	151092478	Missense_Mutation	novel	M953I	0.05
OV	chr6	151009881	Missense_Mutation	novel	A730P	0.09
OV	chr6	151009883	Silent	novel	A730A	0.06
OV	chr6	151009940	Missense_Mutation	NA	M749I	0.34
OV	chr6	151092501	Nonsense_Mutation	novel	C961*	0.06
OV	chr6	151037035	Missense_Mutation	NA	G922D	0.44
PAAD	chr6	150960338	Missense_Mutation	NA	A623T	0.19
PRAD	chr6	150887921	Frame_Shift_Del	novel	*Q241Rfs6**	0.3
PRAD	chr6	150922247	Missense_Mutation	NA	H343Y	0.28
PRAD	chr6	150918620	Silent	novel	L312L	0.11
PRAD	chr6	150926234	Missense_Mutation	rs151023222	R399C	0.47
PRAD	chr6	151034600	Missense_Mutation	novel	Q898H	0.48
READ	chr6	150918661	Missense_Mutation	NA	R326Q	0.23
READ	chr6	150922235	Missense_Mutation	rs766519360	R339C	0.45
READ	chr6	151009856	Missense_Mutation	novel	E721D	0.42
READ	chr6	151036977	Missense_Mutation	NA	L903V	0.05
READ	chr6	151092518	Missense_Mutation	NA	L967I	0.33
SARC	chr6	150885675	Missense_Mutation	novel	A195G	0.47
SKCM	chr6	150960370	Silent	novel	V633V	0.27
SKCM	chr6	151034563	Missense_Mutation	novel	P886L	0.09
SKCM	chr6	150885707	Missense_Mutation	NA	A206T	0.39
SKCM	chr6	151009886	Silent	rs747201948	S731S	0.21
STAD	chr6	151013785	Missense_Mutation	NA	A758T	0.42
STAD	chr6	150960277	Splice_Region	rs146093887	A602A	0.38
STAD	chr6	151034590	Missense_Mutation	rs770387415	Y895C	0.36
STAD	chr6	151009929	Missense_Mutation	novel	A746P	0.1
STAD	chr6	150918661	Missense_Mutation	NA	R326Q	0.59
STAD	chr6	150882785	Silent	rs569968062	I147I	0.38
STAD	chr6	150876145	Missense_Mutation	rs771532672	A95T	0.31
STAD	chr6	151009926	Nonsense_Mutation	NA	R745*	0.07
STAD	chr6	151015620	Nonsense_Mutation	NA	S838*	0.15
STAD	chr6	150960350	Missense_Mutation	novel	A627T	0.41
STAD	chr6	150922210	Missense_Mutation	novel	M330I	0.32
STAD	chr6	150960383	Missense_Mutation	novel	K638E	0.29
UCEC	chr6	150956016	Missense_Mutation	NA	F583C	0.31
UCEC	chr6	151009879	Missense_Mutation	rs570312042	R729Q	0.51
UCEC	chr6	150877661	Missense_Mutation	novel	I114L	0.32
UCEC	chr6	150949100	Missense_Mutation	rs367558632	D565N	0.13
UCEC	chr6	150945511	Missense_Mutation	NA	E531D	0.11
UCEC	chr6	151034586	Missense_Mutation	rs377525704	R894C	0.51
UCEC	chr6	151092511	Silent	novel	D964D	0.25
UCEC	chr6	150918661	Missense_Mutation	NA	R326Q	0.49
UCEC	chr6	150956046	Missense_Mutation	NA	N593S	0.14
UCEC	chr6	151009882	Missense_Mutation	novel	A730D	0.09
UCEC	chr6	151014958	Missense_Mutation	NA	V796M	0.24
UCEC	chr6	151037097	Missense_Mutation	NA	I943V	0.37
UCEC	chr6	150926148	Missense_Mutation	NA	T370S	0.29
UCEC	chr6	150944555	Missense_Mutation	NA	D504N	0.43
UCEC	chr6	150926123	Missense_Mutation	NA	D362Y	0.53
UCEC	chr6	150887926	Missense_Mutation	novel	R242I	0.53
UCEC	chr6	150945509	Nonsense_Mutation	novel	E531*	0.43
UCEC	chr6	151015671	Missense_Mutation	novel	F855S	0.16
UCEC	chr6	151015672	Silent	novel	F855F	0.35
UCEC	chr6	150887948	Missense_Mutation	novel	S249R	0.48
UCEC	chr6	151101756	3'UTR	novel		0.46
UCEC	chr6	150882870	Frame_Shift_Ins	novel	*D178Rfs20**	0.37
UCEC	chr6	150918660	Nonsense_Mutation	NA	R326*	0.43
UCEC	chr6	150956059	Silent	novel	G597G	0.4
UCEC	chr6	151015520	Missense_Mutation	rs191699496	D805N	0.31
UCEC	chr6	151041785	Intron	novel		0.41
UCEC	chr6	150926234	Missense_Mutation	rs151023222	R399C	0.51
UCEC	chr6	150949028	Splice_Region	novel		0.32
UCEC	chr6	150882832	Missense_Mutation	novel	N163T	0.3
UCEC	chr6	150936871	Missense_Mutation	rs769162434	A442T	0.57
UCEC	chr6	150949100	Missense_Mutation	rs367558632	D565N	0.54
UCEC	chr6	150877643	Missense_Mutation	rs116360932	D108N	0.3
UCEC	chr6	150926209	Silent	novel	I390I	0.12
UCEC	chr6	150960277	Splice_Region	rs146093887	A602A	0.46
UCEC	chr6	150936870	Silent	rs144622007	T441T	0.31
UCEC	chr6	150949105	Silent	NA	I566I	0.34
UCEC	chr6	150971995	Missense_Mutation	NA	G688S	0.29
UCEC	chr6	150944507	Missense_Mutation	novel	D488Y	0.37
UCEC	chr6	150949123	Silent	novel	T572T	0.33
UCEC	chr6	151092548	Missense_Mutation	novel	L977V	0.48
UCEC	chr6	150918661	Missense_Mutation	NA	R326Q	0.32
UCEC	chr6	151034586	Missense_Mutation	rs377525704	R894C	0.13
UCEC	chr6	151101682	3'UTR	novel		0.18
UCEC	chr6	150887871	Missense_Mutation	novel	L224V	0.33
UCEC	chr6	151101757	3'UTR	novel		0.65
UCEC	chr6	150971995	Missense_Mutation	NA	G688S	0.48
UCEC	chr6	151101637	3'UTR	novel		0.32
UCEC	chr6	150918648	Missense_Mutation	novel	A322T	0.29
UCEC	chr6	150960333	Missense_Mutation	novel	S621N	0.29
UCEC	chr6	150945509	Nonsense_Mutation	novel	E531*	0.44
UCEC	chr6	150882874	Missense_Mutation	NA	K177T	0.25
UCEC	chr6	150971995	Missense_Mutation	NA	G688S	0.1
UCEC	chr6	150918588	Missense_Mutation	novel	C302R	0.41
UCEC	chr6	150960302	Missense_Mutation	novel	E611K	0.35

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
BLCA	DEL	0.3603	0.00027473
KIRC	DEL	0.2443	7.439e-11
KIRP	DEL	0.1076	0.054498
LGG	DEL	0.1423	0.0054594
MESO	DEL	0.4368	0.05642
PAAD	DEL	0.375	0.11274
SKCM	DEL	0.5559	1.5442e-06
THYM	DEL	0.1463	0.10691
UVM	DEL	0.275	0.0054289

Survival Analysis

Cancer	P-value	Q-value
KIRC	0.026	Kaplan-Meier Survival Analysis
ACC	0.039	Kaplan-Meier Survival Analysis
HNSC	0.0084	Kaplan-Meier Survival Analysis
SKCM	0.00019	Kaplan-Meier Survival Analysis
BRCA	0.043	Kaplan-Meier Survival Analysis
KIRP	0.00032	Kaplan-Meier Survival Analysis
PAAD	0.044	Kaplan-Meier Survival Analysis
BLCA	0.0014	Kaplan-Meier Survival Analysis
CESC	0.0035	Kaplan-Meier Survival Analysis
READ	0.0012	Kaplan-Meier Survival Analysis
UCEC	0.0019	Kaplan-Meier Survival Analysis
LIHC	0.0001	Kaplan-Meier Survival Analysis
LGG	0.021	Kaplan-Meier Survival Analysis
LUAD	0.0015	Kaplan-Meier Survival Analysis

Description

RBPome

Expression

Transcripts

Gene Model

Pathway

Phenotype

GWAS

PPI

Ortholog

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
Specie: Homo_sapiens
Strand: Plus strand
Length: 236,339 bases
Position: chr6:150,865,549-151,101,887
Accession: 21055
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)

PID	Title	Method	Time	Author	Doi
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & HEK293	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & MCF7	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & U2OS	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000611279	MTHFD1L-211	3475	XM_005266911	ENSP00000478253	979 (aa)	XP_005266968	B7ZM99
ENST00000367321	MTHFD1L-203	3604	XM_005266907	ENSP00000356290	978 (aa)	XP_005266964	Q6UB35
ENST00000423867	MTHFD1L-206	524	-	ENSP00000400776	114 (aa)	-	Q5JYA3
ENST00000618312	MTHFD1L-212	3159	XM_011535730	ENSP00000479539	913 (aa)	XP_011534032	A0A087WVM4
ENST00000441122	MTHFD1L-207	1134	-	ENSP00000407070	108 (aa)	-	Q5JYA8
ENST00000420192	MTHFD1L-204	606	-	ENSP00000395158	96 (aa)	-	Q4VXV2
ENST00000421497	MTHFD1L-205	373	-	-	- (aa)	-	-
ENST00000367308	MTHFD1L-202	996	XM_024446396	ENSP00000356277	332 (aa)	XP_024302164	H0Y327
ENST00000478643	MTHFD1L-210	421	-	-	- (aa)	-	-
ENST00000367307	MTHFD1L-201	1049	-	ENSP00000356276	275 (aa)	-	Q6UB35
ENST00000453602	MTHFD1L-209	503	-	ENSP00000391022	92 (aa)	-	Q4VXM0
ENST00000450635	MTHFD1L-208	427	-	ENSP00000399804	57 (aa)	-	Q4VXM1

Gene Model

Click here to download ENSG00000120254's gene model file

Pathway

Pathway ID	Pathway Name	Source
hsa00670	One carbon pool by folate	KEGG
hsa01100	Metabolic pathways	KEGG

Phenotype

ensgID	Trait	pValue	Pubmed ID
ENSG00000120254	Respiratory Function Tests	3.85504303519468E-5	17903307
ENSG00000120254	Body Mass Index	4.14939035831008E-5	17903300
ENSG00000120254	Body Mass Index	5.37691608886963E-6	17903300
ENSG00000120254	Body Mass Index	4.73950542678736E-6	17903300
ENSG00000120254	Body Mass Index	9.47239859660896E-8	17903300
ENSG00000120254	Body Weight	3.78872399011687E-5	17903300
ENSG00000120254	Aorta	8.3543782868123E-5	17903303
ENSG00000120254	Aorta	8.74531513195276E-5	17903303
ENSG00000120254	Stroke	3.3014086E-004	19369658
ENSG00000120254	Cholesterol	2.203e-005	-
ENSG00000120254	Arteries	1.6540000E-005	-
ENSG00000120254	Vascular Diseases	6.1500000E-006	-
ENSG00000120254	Coronary Disease	3E-8	17634449
ENSG00000120254	Schizophrenia	1E-6	26198764
ENSG00000120254	Alzheimer Disease	2E-10	20885792

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000120254	rs524732	6	150993705	A	Schizophrenia	26198764	[NR]	1.06	EFO_0000692
ENSG00000120254	rs11754661	6	150885942	A	Alzheimer's disease (late onset)	20885792	[1.67-2.64]	2.1	EFO_0000249
ENSG00000120254	rs6922269	6	150931849	A	Coronary heart disease	17634449	[1.15-1.33]	1.23	EFO_0001645
ENSG00000120254	rs9397365	6	150915044	G	Peripheral arterial disease (traffic-related air pollution interaction)	27082954	[19.58-22.56]	21.07	EFO_0004265\|EFO_0007908
ENSG00000120254	rs13193176	6	150945734	?	DNA methylation variation (age effect)	30348214			GO_0006306

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000120254's network

Orthologs identified by RBPome

Ensembl ID	Gene Symbol	Coverage	Identiy	Paralog	Gene Symbol	Coverage	Identiy	Species
ENSG00000120254	MTHFD1L	97	96.774	ENSMUSG00000040675	Mthfd1l	100	88.344	Mus_musculus

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0001843	neural tube closure	-	ISS	Process
GO:0004329	formate-tetrahydrofolate ligase activity	21873635.	IBA	Function
GO:0004329	formate-tetrahydrofolate ligase activity	12937168.	IDA	Function
GO:0004488	methylenetetrahydrofolate dehydrogenase (NADP+) activity	-	IEA	Function
GO:0005524	ATP binding	16171773.	IDA	Function
GO:0005737	cytoplasm	21873635.	IBA	Component
GO:0005739	mitochondrion	21873635.	IBA	Component
GO:0005739	mitochondrion	12937168.	IDA	Component
GO:0005759	mitochondrial matrix	-	TAS	Component
GO:0006760	folic acid-containing compound metabolic process	12937168.	IDA	Process
GO:0009113	purine nucleobase biosynthetic process	21873635.	IBA	Process
GO:0009257	10-formyltetrahydrofolate biosynthetic process	21873635.	IBA	Process
GO:0009257	10-formyltetrahydrofolate biosynthetic process	12937168.	IDA	Process
GO:0015942	formate metabolic process	16171773.	IDA	Process
GO:0016020	membrane	19946888.	HDA	Component
GO:0035999	tetrahydrofolate interconversion	-	IEA	Process
GO:0042803	protein homodimerization activity	16171773.	IDA	Function
GO:0046655	folic acid metabolic process	-	TAS	Process
GO:0048702	embryonic neurocranium morphogenesis	-	ISS	Process
GO:0048703	embryonic viscerocranium morphogenesis	-	ISS	Process
GO:0055114	oxidation-reduction process	-	IEA	Process

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