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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for MTHFR |
Basic gene info. | Gene symbol | MTHFR |
Gene name | methylenetetrahydrofolate reductase (NAD(P)H) | |
Synonyms | - | |
Cytomap | UCSC genome browser: 1p36.3 | |
Genomic location | chr1 :11845786-11866160 | |
Type of gene | protein-coding | |
RefGenes | NM_005957.4, | |
Ensembl id | ENSG00000177000 | |
Description | 5,10-methylenetetrahydrofolate reductase (NADPH)methylenetetrahydrofolate reductase | |
Modification date | 20141222 | |
dbXrefs | MIM : 607093 | |
HGNC : HGNC | ||
Ensembl : ENSG00000177000 | ||
HPRD : 06158 | ||
Vega : OTTHUMG00000002277 | ||
Protein | UniProt: P42898 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_MTHFR | |
BioGPS: 4524 | ||
Gene Expression Atlas: ENSG00000177000 | ||
The Human Protein Atlas: ENSG00000177000 | ||
Pathway | NCI Pathway Interaction Database: MTHFR | |
KEGG: MTHFR | ||
REACTOME: MTHFR | ||
ConsensusPathDB | ||
Pathway Commons: MTHFR | ||
Metabolism | MetaCyc: MTHFR | |
HUMANCyc: MTHFR | ||
Regulation | Ensembl's Regulation: ENSG00000177000 | |
miRBase: chr1 :11,845,786-11,866,160 | ||
TargetScan: NM_005957 | ||
cisRED: ENSG00000177000 | ||
Context | iHOP: MTHFR | |
cancer metabolism search in PubMed: MTHFR | ||
UCL Cancer Institute: MTHFR | ||
Assigned class in ccmGDB | A - This gene has a literature evidence and it belongs to cancer gene. | |
References showing role of MTHFR in cancer cell metabolism | 1. Abedinzadeh M, Zare-Shehneh M, Neamatzadeh H, Karami H (2014) Association between MTHFR C677T Polymorphism and Risk of Prostate Cancer: Evidence from 22 Studies with 10,832 Cases and 11,993 Controls. Asian Pacific journal of cancer prevention: APJCP 16: 4525-4530. go to article 2. Kim JW, Jeon YJ, Jang MJ, Kim JO, Chong SY, et al. (2015) Association between folate metabolism-related polymorphisms and colorectal cancer risk. Molecular and Clinical Oncology 3: 639-648. go to article |
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Phenotypic Information for MTHFR(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: MTHFR |
Familial Cancer Database: MTHFR |
* This gene is included in those cancer gene databases. |
. | ||||||||||||||||||||
Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
Metabolic Pathway Description | |
REACTOME_METABOLISM_OF_VITAMINS_AND_COFACTORS |
Others | |
OMIM | 236250; phenotype. 601367; phenotype. 601634; phenotype. 603174; phenotype. 607093; gene. |
Orphanet | 1048; Isolated anencephaly/exencephaly. 240977; Susceptibility to adverse reaction due to methotrexate treatment. 268377; Total spina bifida aperta. 268384; Thoracolumbosacral spina bifida aperta. 268388; Lumbosacral spina bifida aperta. 268392; Cervical spina bifida aperta. 268397; Cervicothoracic spina bifida aperta. 268740; Upper thoracic spina bifida aperta. 268748; Total spina bifida cystica. 268752; Thoracolumbosacral spina bifida cystica. 268758; Lumbosacral spina bifida cystica. 268762; Cervical spina bifida cystica. 268766; Cervicothoracic spina bifida cystica. 268770; Upper thoracic spina bifida cystica. 395; Homocystinuria due to methylene tetrahydrofolate reductase deficiency. 64738; Non rare thrombophilia. 90070; Methotrexate poisoning. |
Disease | KEGG Disease: MTHFR |
MedGen: MTHFR (Human Medical Genetics with Condition) | |
ClinVar: MTHFR | |
Phenotype | MGI: MTHFR (International Mouse Phenotyping Consortium) |
PhenomicDB: MTHFR |
Mutations for MTHFR |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
There's no structural variation information in COSMIC data for this gene. |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows MTHFR related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
R09898 | NUAK1 | 1 | 61 | 12 | 106459136 | 106459196 | MTHFR | 60 | 114 | 1 | 11858785 | 11858848 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
There's no copy number variation information in COSMIC data for this gene. |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=54) | (# total SNVs=11) |
(# total SNVs=2) | (# total SNVs=0) |
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Top 10 SNVs Having the Most Samples in COSMIC data |
* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr1:11854476-11854476 | p.E429A | 5 |
chr1:11860307-11860307 | p.R183Q | 3 |
chr1:11854864-11854864 | p.R363H | 3 |
chr1:11854116-11854116 | p.L460V | 2 |
chr1:11856367-11856367 | p.I226F | 2 |
chr1:11856378-11856378 | p.A222V | 2 |
chr1:11863114-11863114 | p.S20S | 2 |
chr1:11861228-11861228 | p.A155A | 2 |
chr1:11851348-11851348 | p.P556P | 2 |
chr1:11856335-11856335 | p.F236F | 1 |
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SNV Counts per Each Loci in TCGA data |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample | 3 |   | 3 | 10 | 1 |   | 2 |   | 1 |   |   | 6 | 2 |   |   | 2 | 4 | 9 | 1 | 11 |
# mutation | 3 |   | 3 | 10 | 1 |   | 2 |   | 1 |   |   | 6 | 2 |   |   | 2 | 4 | 10 | 1 | 10 |
nonsynonymous SNV | 1 |   | 2 | 9 | 1 |   | 1 |   | 1 |   |   | 5 | 2 |   |   | 2 | 1 | 8 | 1 | 8 |
synonymous SNV | 2 |   | 1 | 1 |   |   | 1 |   |   |   |   | 1 |   |   |   |   | 3 | 2 |   | 2 |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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Top 10 SNVs Having the Most Samples in TCGA data |
* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr1:11860307 | p.R183Q | 3 |
chr1:11854026 | p.G298D | 2 |
chr1:11855293 | p.P556P | 2 |
chr1:11851348 | p.G490R | 2 |
chr1:11861293 | p.P459L | 1 |
chr1:11854538 | p.R357H | 1 |
chr1:11854864 | p.R157W | 1 |
chr1:11852386 | p.W455C | 1 |
chr1:11856448 | p.E326E | 1 |
chr1:11861298 | p.L150P | 1 |
Other DBs for Point Mutations |
Copy Number for MTHFR in TCGA |
* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for MTHFR |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
CACNA1D,CASZ1,CLCN6,CYB561D1,TP73-AS1,LOC100129534,MAP3K1, MFN2,MKNK2,MORN1,MTHFR,NDST1,NISCH,PGPEP1, RERE,SLC35E2,TBC1D13,TRIM66,UBXN10,VPS13D,ZBTB40 | ANKRD52,ATXN7L2,IBA57,DGKD,DNMT3A,EFR3B,GTF3C1, HCFC1,LARGE,LIMD1,MTHFR,NEU3,OPA3,P2RY2, PGPEP1,PLEC,RHOBTB2,SBK1,SEMA4D,USP22,WDR37 | ||||
ATP13A2,GDPGP1,CASZ1,DHDDS,DOCK5,KIF1B,KLF13, LUZP1,MAP3K6,MBD1,MFN2,MTHFR,MTOR,SH3BP2, TNRC6B,TXLNA,UBR4,VPS13D,VPS18,WASF2,ZCCHC2 | ALX3,AMDHD2,ARHGEF11,CDC42BPB,IQCE,KIAA0556,ZSWIM8, MED15,MTHFR,PHRF1,PLXNB2,RALGDS,RNF123,PPP6R2, SBF1,TAOK2,TNS3,USP42,ZMIZ1,ZNF592,ZZEF1 |
Co-Expressed gene's Protein-protein interaction Network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for MTHFR |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Organism-specific databases | PharmGKB | PA245; -. |
Organism-specific databases | CTD | 4524; -. |
Drug-Gene Interaction Network |
* Gene Centered Interaction Network. |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB03147 | methylenetetrahydrofolate reductase (NAD(P)H) | experimental | Flavin-Adenine Dinucleotide | ||
DB00115 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; nutraceutical | Cyanocobalamin | ||
DB00116 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; nutraceutical | Tetrahydrofolic acid | ||
DB01234 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; investigational | Dexamethasone | ||
DB00515 | methylenetetrahydrofolate reductase (NAD(P)H) | approved | Cisplatin | ||
DB00970 | methylenetetrahydrofolate reductase (NAD(P)H) | approved | Dactinomycin | ||
DB00313 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; investigational | Valproic Acid | ||
DB00526 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; investigational | Oxaliplatin | ||
DB01101 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; investigational | Capecitabine | ||
DB00175 | methylenetetrahydrofolate reductase (NAD(P)H) | approved | Pravastatin | ||
DB00145 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; nutraceutical | Glycine | ||
DB00133 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; nutraceutical | L-Serine | ||
DB00165 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; nutraceutical | Pyridoxine | ||
DB00531 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; investigational | Cyclophosphamide | ||
DB01248 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; investigational | Docetaxel | ||
DB00997 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; investigational | Doxorubicin | ||
DB01229 | methylenetetrahydrofolate reductase (NAD(P)H) | approved | Paclitaxel | ||
DB01030 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; investigational | Topotecan | ||
DB00293 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; investigational | Raltitrexed | ||
DB00795 | methylenetetrahydrofolate reductase (NAD(P)H) | approved | Sulfasalazine | ||
DB00987 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; investigational | Cytarabine | ||
DB00694 | methylenetetrahydrofolate reductase (NAD(P)H) | approved | Daunorubicin | ||
DB00773 | methylenetetrahydrofolate reductase (NAD(P)H) | approved | Etoposide | ||
DB00650 | methylenetetrahydrofolate reductase (NAD(P)H) | approved | Leucovorin | ||
DB01033 | methylenetetrahydrofolate reductase (NAD(P)H) | approved | Mercaptopurine | ||
DB00563 | methylenetetrahydrofolate reductase (NAD(P)H) | approved | Methotrexate | ||
DB00635 | methylenetetrahydrofolate reductase (NAD(P)H) | approved | Prednisone | ||
DB00541 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; investigational | Vincristine | ||
DB00158 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; nutraceutical | Folic Acid | ||
DB00460 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; investigational | Verteporfin | ||
DB00544 | methylenetetrahydrofolate reductase (NAD(P)H) | approved | Fluorouracil | ||
DB00762 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; investigational | Irinotecan | ||
DB00958 | methylenetetrahydrofolate reductase (NAD(P)H) | approved | Carboplatin | ||
DB00642 | methylenetetrahydrofolate reductase (NAD(P)H) | approved; investigational | Pemetrexed |
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Cross referenced IDs for MTHFR |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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