MTHFR

Basic Information
Gene SymbolMTHFR
Entrez Id4524
Positionchr1:11845787..11866160
Descriptionmethylenetetrahydrofolate reductase (NAD(P)H)
Gene typeprotein-coding
SNP Information

SNPPositionAlelleGeneAnnotationInfoOrSeP-valueeQTLScore*
rs1118479241:11859747A/GMTHFRintron1.0000.995510.02460.85337
rs121215431:11854671A/CMTHFRintron0.9800.974920.01220.037421f
rs133065531:11860117A/GMTHFRintron0.9881.029320.01720.093537
rs133065561:11852110T/CMTHFRintron0.9910.971610.01720.093827
rs133065671:11860465C/GMTHFRintron1.0001.004710.02460.84957
rs15721511:11857711T/CMTHFRintron0.9800.983440.02060.41812b
rs170373881:11858036A/GMTHFRintron0.9771.021320.01480.1544
rs170373901:11860843A/GMTHFRintron0.9880.977070.01460.11294
rs170373961:11862047T/CMTHFRintron0.9860.973750.01720.12076
rs170373971:11862163A/CMTHFRintron0.9970.967830.02430.17845
rs173675041:11862778A/GMTHFRintron0.9921.027060.01470.068914
rs173759011:11852516T/CMTHFRintron0.9920.983240.02310.46435
rs174214621:11856847A/GMTHFRintron0.9731.017450.02090.4074
rs174215111:11857788A/GMTHFRintron0.9900.980300.01410.1584
rs174215601:11858324A/GMTHFRintron0.9880.970930.01720.086895
rs18011311:11854476T/GMTHFRmissense0.9931.024910.01130.029671f
rs18011331:11856378A/GMTHFRmissense0.9681.006820.01150.55064
rs1822619531:11851190A/GMTHFRintron0.6100.966280.05810.5556-
rs19947981:11854755A/GMTHFRintron0.9701.020200.01090.066481f
rs20664621:11854896A/GMTHFRcoding-synon0.9900.972190.01730.10195
rs20664701:11863057A/GMTHFRcoding-synon,untranslated-50.9910.967640.01740.058574
rs20664711:11860458T/CMTHFRintron0.9880.978630.01410.12547
rs22749761:11850927T/CMTHFRmissense0.9960.965900.02450.15584
rs354643361:11860807T/CMTHFRintron0.9890.971610.01720.094824
rs355934681:11860684A/GMTHFRintron0.9971.007530.02940.79926
rs357372191:11850750A/GMTHFRmissense0.9281.010250.03250.75294
rs38187621:11851003C/GMTHFRintron0.9840.975600.01170.035271f
rs413944461:11851927T/CMTHFRintron0.6361.024290.03310.46815
rs414524451:11858584T/CMTHFRintron0.9911.007330.02440.76382b
rs454396011:11856084A/GMTHFRintron0.9920.983340.02320.46855
rs454495971:11857925A/CMTHFRintron0.9810.982460.01430.21594
rs454681911:11859042A/GMTHFRintron0.9991.004510.02460.85367
rs454754031:11857207T/CMTHFRintron0.9960.994320.02460.81737
rs454956911:11855897A/CMTHFRintron0.9790.984130.02090.44237
rs455042021:11858550T/CMTHFRintron0.9910.980890.01410.16914
rs455187321:11859877T/CMTHFRintron0.7200.964830.04030.37387
rs455258351:11852898C/GMTHFRintron0.6471.060780.04730.21225
rs455323381:11859908T/CMTHFRintron0.9840.992330.02420.7517
rs455333331:11858403T/CMTHFRintron0.9970.994910.02460.83525
rs455533351:11858957T/CMTHFRintron0.9861.022860.01470.12367
rs455775331:11857576T/CMTHFRintron0.9961.004810.02460.84612b
rs456034351:11861855A/GMTHFRintron0.9891.022860.01460.12226
rs456084371:11857926A/GMTHFRintron0.9780.982550.01430.2174
rs48460491:11850365T/GMTHFRuntranslated-30.9900.973360.01130.016397
rs48460521:11857951T/CMTHFRintron0.9900.981770.01080.088421f
rs65410031:11855867A/GMTHFRintron0.9911.020410.01080.061296
rs65410051:11857525A/TMTHFRintron0.9130.981470.01110.090986
rs65410061:11857526A/TMTHFRintron0.7630.996610.02150.87256
rs726402331:11858363T/CMTHFRintron0.6210.988570.04580.80225
rs746834061:11859636A/GMTHFRintron1.0000.995410.02460.8517
rs770786021:11859390T/CMTHFRintron1.0001.004610.02460.85297
rs800381301:11859606T/GMTHFRintron1.0001.004610.02460.85147
rs803073601:11859132T/CMTHFRintron0.9970.995210.02460.84476
rs96511181:11862214T/CMTHFRintron0.9690.987380.01260.31315
SNPPositionAlelleGeneAnnotationInfoOrSeP-valueeQTLScore*

  Note: RegulomeDB score*
score supporting data score supporting data
1aeQTL + TF binding + matched TF motif + matched DNase Footprint + DNase peak6other
2aTF binding + matched TF motif + matched DNase Footprint + DNase peak5TF binding or DNase peak
1beQTL + TF binding + any motif + DNase Footprint + DNase peak4TF binding + DNase peak
2bTF binding + any motif + DNase Footprint + DNase peak3bTF binding + matched TF motif
1ceQTL + TF binding + matched TF motif + DNase peak1feQTL + TF binding / DNase peak
2cTF binding + matched TF motif + DNase peak3aTF binding + any motif + DNase peak
1deQTL + TF binding + any motif + DNase peak1eeQTL + TF binding + matched TF motif
CNV Information

The gene is not affected by CNV!

eQTL Information

There is no eQTL snp about this gene!

KEGG annotation
KEGG pathway annotationhsa00670; One carbon pool by folate
KEGG pathway annotationhsa01100; Metabolic pathways
KEGG pathway annotationhsa01200; Carbon metabolism
GO annotation
GO pathway annotationGO:0001666; response to hypoxia
GO pathway annotationGO:0004489; methylenetetrahydrofolate reductase (NAD(P)H) activity
GO pathway annotationGO:0005829; cytosol
GO pathway annotationGO:0006520; cellular amino acid metabolic process
GO pathway annotationGO:0006555; methionine metabolic process
GO pathway annotationGO:0006766; vitamin metabolic process
GO pathway annotationGO:0006767; water-soluble vitamin metabolic process
GO pathway annotationGO:0008015; blood circulation
GO pathway annotationGO:0009086; methionine biosynthetic process
GO pathway annotationGO:0031060; regulation of histone methylation
GO pathway annotationGO:0032403; protein complex binding
GO pathway annotationGO:0033274; response to vitamin B2
GO pathway annotationGO:0035999; tetrahydrofolate interconversion
GO pathway annotationGO:0042493; response to drug
GO pathway annotationGO:0043005; neuron projection
GO pathway annotationGO:0044281; small molecule metabolic process
GO pathway annotationGO:0046500; S-adenosylmethionine metabolic process
GO pathway annotationGO:0046655; folic acid metabolic process
GO pathway annotationGO:0050660; flavin adenine dinucleotide binding
GO pathway annotationGO:0050661; NADP binding
GO pathway annotationGO:0050667; homocysteine metabolic process
GO pathway annotationGO:0051593; response to folic acid
GO pathway annotationGO:0055114; oxidation-reduction process
GO pathway annotationGO:0070555; response to interleukin-1
GO pathway annotationGO:0070829; heterochromatin maintenance
GO pathway annotationGO:0072341; modified amino acid binding
Co-expression Information

There is no gene co-express this gene!

Expression pattern
Note: Avg - average expression of all genes
Description Age Description Age Description Age
Embryonic4-8 PCWEarly fetal18-10 PCWEarly fetal210-13 PCW
Early mid-fetal113-16 PCWEarly mid-fetal216-19 PCWLate mid-fetal19-24 PCW
Late fetal24-38 PCWNeonatal & early infancy0-6 MLate infancy6-12 M
Early childhood1-6 YMiddle and late childhood6-12 YAdolescence12-20 Y
Young adulthood20-40 YMiddle adulthood40-60 YLate adulthood60 Y+
Protein-protein interaction