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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for DHFR |
Basic gene info. | Gene symbol | DHFR |
Gene name | dihydrofolate reductase | |
Synonyms | DHFRP1|DYR | |
Cytomap | UCSC genome browser: 5q11.2-q13.2 | |
Genomic location | chr5 :79922044-79950800 | |
Type of gene | protein-coding | |
RefGenes | NM_000791.3, NM_001290354.1,NM_001290357.1,NR_110936.1, | |
Ensembl id | ENSG00000228716 | |
Description | - | |
Modification date | 20141207 | |
dbXrefs | MIM : 126060 | |
HGNC : HGNC | ||
Ensembl : ENSG00000228716 | ||
HPRD : 00519 | ||
Vega : OTTHUMG00000162529 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_DHFR | |
BioGPS: 1719 | ||
Gene Expression Atlas: ENSG00000228716 | ||
The Human Protein Atlas: ENSG00000228716 | ||
Pathway | NCI Pathway Interaction Database: DHFR | |
KEGG: DHFR | ||
REACTOME: DHFR | ||
ConsensusPathDB | ||
Pathway Commons: DHFR | ||
Metabolism | MetaCyc: DHFR | |
HUMANCyc: DHFR | ||
Regulation | Ensembl's Regulation: ENSG00000228716 | |
miRBase: chr5 :79,922,044-79,950,800 | ||
TargetScan: NM_000791 | ||
cisRED: ENSG00000228716 | ||
Context | iHOP: DHFR | |
cancer metabolism search in PubMed: DHFR | ||
UCL Cancer Institute: DHFR | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for DHFR(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: DHFR |
Familial Cancer Database: DHFR |
* 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 | |
Orphanet | |
Disease | KEGG Disease: DHFR |
MedGen: DHFR (Human Medical Genetics with Condition) | |
ClinVar: DHFR | |
Phenotype | MGI: DHFR (International Mouse Phenotyping Consortium) |
PhenomicDB: DHFR |
Mutations for DHFR |
* 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 DHFR 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 |
M33552 | DHFR | 1 | 46 | 5 | 79946335 | 79946450 | LSP1 | 41 | 1631 | 11 | 1874307 | 1913492 | |
BC068072 | ZMIZ1 | 1 | 1267 | 10 | 81070711 | 81073434 | DHFR | 1262 | 1315 | 5 | 79947669 | 79947722 | |
DB727835 | DHFR | 2 | 66 | 5 | 79947600 | 79947664 | TM9SF3 | 62 | 675 | 10 | 98321775 | 98346664 | |
DA541950 | DHFR | 1 | 107 | 5 | 79947318 | 79947424 | PSMD2 | 108 | 556 | 3 | 184019408 | 184020492 | |
L42531 | GSS | 1 | 1690 | 20 | 33516405 | 33543560 | DHFR | 1691 | 1811 | 5 | 79946695 | 79946815 | |
AK123238 | ZNF483 | 2 | 2294 | 9 | 114309598 | 114311891 | DHFR | 2285 | 2366 | 5 | 79946785 | 79946866 | |
BQ328186 | DHFR | 181 | 259 | 5 | 79945841 | 79945919 | SPPL3 | 250 | 586 | 12 | 121222150 | 121229364 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample |   |   |   | 1 |   |   | 1 |   |   |   |   |   |   |   |   |   |   | |||
GAIN (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
LOSS (# sample) |   |   |   | 1 |   |   | 1 |   |   |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract) |
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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=11) | (# total SNVs=2) |
(# total SNVs=0) | (# 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 |
chr5:79945224-79945224 | p.L76I | 2 |
chr5:79945254-79945254 | p.R66* | 2 |
chr5:79924930-79924930 | p.F180F | 1 |
chr5:79945268-79945268 | p.I61T | 1 |
chr5:79924953-79924953 | p.E173K | 1 |
chr5:79949865-79949865 | p.R33T | 1 |
chr5:79924971-79924971 | p.L167I | 1 |
chr5:79924972-79924972 | p.V166V | 1 |
chr5:79933712-79933712 | p.S120Y | 1 |
chr5:79933735-79933735 | p.M112I | 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 |   |   |   | 1 |   |   | 3 |   | 1 |   |   | 1 |   |   |   |   |   |   |   | 4 |
# mutation |   |   |   | 1 |   |   | 3 |   | 1 |   |   | 1 |   |   |   |   |   |   |   | 5 |
nonsynonymous SNV |   |   |   | 1 |   |   | 3 |   | 1 |   |   | 1 |   |   |   |   |   |   |   | 4 |
synonymous SNV |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | 1 |
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 |
chr5:79945224 | p.L24I,DHFR | 2 |
chr5:79924930 | p.F128F,DHFR | 1 |
chr5:79924954 | p.E120D,DHFR | 1 |
chr5:79924971 | p.L115I,DHFR | 1 |
chr5:79924972 | p.S128A | 1 |
chr5:79929781 | p.L82I,DHFR | 1 |
chr5:79929790 | p.H79Y,DHFR | 1 |
chr5:79933712 | p.S68Y,DHFR | 1 |
chr5:79933760 | p.P52Q,DHFR | 1 |
chr5:79945217 | p.R26K,DHFR | 1 |
Other DBs for Point Mutations |
Copy Number for DHFR 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 DHFR |
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 |
ANKRD32,BUB1B,CASC5,CCNB1,CDC25C,CENPK,DHFR, FANCI,HMMR,KIF11,KNTC1,LMNB1,NUSAP1,PRIM1, RACGAP1,RRM1,SMC2,TIMELESS,TMEM194A,WDR76,ZNF367 | CLMP,ASPH,DDHD2,DHFR,DMGDH,EBF1,EHBP1, RMDN1,FERMT2,GLYAT,KCTD20,LAMA4,MMD,MRAS, PALM2-AKAP2,RHOBTB3,SEPT11,SLC25A16,SORBS1,TSPAN3,VKORC1L1 | ||||
ASF1B,CCNA2,CCNB1,CDC45,CDK1,CENPK,CENPM, CENPN,DEPDC1B,DHFR,H2AFZ,HMMR,KIAA0101,OIP5, POC1A,POLA2,PRIM1,RAD51,UBE2T,WDR76,ZWINT | ASF1B,CDK1,DHFR,DNAJC9,ESCO2,KIAA0101,KIAA1524, MAD2L1,ORC6,PCNA,POLA2,RAD51,RAD51AP1,RAD54B, RFC3,RFC5,SGOL1,SPC25,TFDP1,VRK1,ZWILCH |
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 DHFR |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
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 |
DB00157 | dihydrofolate reductase | approved; nutraceutical | NADH | ||
DB00205 | dihydrofolate reductase | approved | Pyrimethamine | ||
DB00440 | dihydrofolate reductase | approved | Trimethoprim | ||
DB00563 | dihydrofolate reductase | approved | Methotrexate | ||
DB00642 | dihydrofolate reductase | approved; investigational | Pemetrexed | ||
DB01131 | dihydrofolate reductase | approved | Proguanil | ||
DB01157 | dihydrofolate reductase | approved | Trimetrexate | ||
DB02104 | dihydrofolate reductase | experimental | 2,4-Diamino-5-Methyl-6-[(3,4,5-Trimethoxy-N-Methylanilino)Methyl]Pyrido[2,3-D]Pyrimidine | ||
DB02427 | dihydrofolate reductase | experimental | 2,4-Diamino-6-[N-(2',5'-Dimethoxybenzyl)-N-Methylamino]Quinazoline | ||
DB02559 | dihydrofolate reductase | experimental | 6-(Octahydro-1h-Indol-1-Ylmethyl)Decahydroquinazoline-2,4-Diamine | ||
DB02583 | dihydrofolate reductase | experimental | N6-(2,5-Dimethoxy-Benzyl)-N6-Methyl-Pyrido[2,3-D]Pyrimidine-2,4,6-Triamine | ||
DB02919 | dihydrofolate reductase | experimental | 2,4-Diamino-6-[N-(3',4',5'-Trimethoxybenzyl)-N-Methylamino]Pyrido[2,3-D]Pyrimidine | ||
DB03060 | dihydrofolate reductase | experimental | Sri-9662 | ||
DB03125 | dihydrofolate reductase | experimental | 2,4-Diamino-5-(3,4,5-Trimethoxy-Benzyl)-Pyrimidin-1-Ium | ||
DB03351 | dihydrofolate reductase | experimental | Sri-9439 | ||
DB03461 | dihydrofolate reductase | experimental | 2'-Monophosphoadenosine 5'-Diphosphoribose | ||
DB03695 | dihydrofolate reductase | experimental | 6-(2,5-Dimethoxy-Benzyl)-5-Methyl-Pyrido[2,3-D]Pyrimidine-2,4-Diamine | ||
DB03886 | dihydrofolate reductase | experimental | Biopterin | ||
DB03987 | dihydrofolate reductase | experimental | 2,4-Diamino-6-[N-(3',5'-Dimethoxybenzyl)-N-Methylamino]Pyrido[2,3-D]Pyrimidine | ||
DB07140 | dihydrofolate reductase | experimental | 5-[(3R)-3-(5-methoxybiphenyl-3-yl)but-1-yn-1-yl]-6-methylpyrimidine-2,4-diamine | ||
DB07141 | dihydrofolate reductase | experimental | 5-[(3R)-3-(5-methoxy-4'-methylbiphenyl-3-yl)but-1-yn-1-yl]-6-methylpyrimidine-2,4-diamine | ||
DB07142 | dihydrofolate reductase | experimental | 5-[(3R)-3-(5-methoxy-3',5'-dimethylbiphenyl-3-yl)but-1-yn-1-yl]-6-methylpyrimidine-2,4-diamine | ||
DB07144 | dihydrofolate reductase | experimental | 5-[(3R)-3-(5-methoxy-2',6'-dimethylbiphenyl-3-yl)but-1-yn-1-yl]-6-methylpyrimidine-2,4-diamine | ||
DB08234 | dihydrofolate reductase | experimental | 5-[3-(2,5-dimethoxyphenyl)prop-1-yn-1-yl]-6-ethylpyrimidine-2,4-diamine | ||
DB08406 | dihydrofolate reductase | experimental | [N-(2,4-DIAMINOPTERIDIN-6-YL)-METHYL]-DIBENZ[B,F]AZEPINE | ||
DB08448 | dihydrofolate reductase | experimental | (4aS)-5-[(2,4-diaminopteridin-6-yl)methyl]-4a,5-dihydro-2H-dibenzo[b,f]azepin-8-ol | ||
DB08642 | dihydrofolate reductase | experimental | (2R,6S)-6-{[methyl(3,4,5-trimethoxyphenyl)amino]methyl}-1,2,5,6,7,8-hexahydroquinazoline-2,4-diamine | ||
DB01929 | dihydrofolate reductase | experimental | 5-Chloryl-2,4,6-Quinazolinetriamine | ||
DB01958 | dihydrofolate reductase | experimental | 5-[4-Tert-Butylphenylsulfanyl]-2,4-Quinazolinediamine | ||
DB02001 | dihydrofolate reductase | experimental | 5-(4-Morpholin-4-Yl-Phenylsulfanyl)-2,4-Quinazolinediamine | ||
DB02402 | dihydrofolate reductase | experimental | 5-(4-Methoxyphenoxy)-2,4-Quinazolinediamine | ||
DB03814 | dihydrofolate reductase | experimental | 2-(N-Morpholino)-Ethanesulfonic Acid | ||
DB04163 | dihydrofolate reductase | experimental | 5-Phenylsulfanyl-2,4-Quinazolinediamine | ||
DB04306 | dihydrofolate reductase | experimental | 5-[(4-Methylphenyl)Sulfanyl]-2,4-Quinazolinediamine | ||
DB02026 | dihydrofolate reductase | experimental | Furo[2,3d]Pyrimidine Antifolate | ||
DB02809 | dihydrofolate reductase | experimental | Brodimoprim-4,6-Dicarboxylate | ||
DB04007 | dihydrofolate reductase | experimental | Bromo-WR99210 | ||
DB02015 | dihydrofolate reductase | experimental | Dihydrofolic Acid | ||
DB02363 | dihydrofolate reductase | experimental | 2'-Monophosphoadenosine-5'-Diphosphate | ||
DB02718 | dihydrofolate reductase | experimental | 5-Formyl-6-Hydrofolic Acid | ||
DB03625 | dihydrofolate reductase | experimental | 5,10-Dideazatetrahydrofolic Acid | ||
DB03904 | dihydrofolate reductase | experimental | Urea | ||
DB07262 | dihydrofolate reductase | experimental | 1-{[N-(1-IMINO-GUANIDINO-METHYL)]SULFANYLMETHYL}-3-TRIFLUOROMETHYL-BENZENE | ||
DB07938 | dihydrofolate reductase | experimental | 5-[[(2R)-2-cyclopropyl-7,8-dimethoxy-chroman-5-yl]methyl]pyrimidine-2,4-diamine | ||
DB08741 | dihydrofolate reductase | experimental | 5-[[(2R)-2-cyclopropyl-7,8-dimethoxy-2H-chromen-5-yl]methyl]pyrimidine-2,4-diamine | ||
DB00515 | dihydrofolate reductase | approved | Cisplatin | ||
DB00531 | dihydrofolate reductase | approved; investigational | Cyclophosphamide | ||
DB00970 | dihydrofolate reductase | approved | Dactinomycin | ||
DB00997 | dihydrofolate reductase | approved; investigational | Doxorubicin | ||
DB00541 | dihydrofolate reductase | approved; investigational | Vincristine | ||
DB00145 | dihydrofolate reductase | approved; nutraceutical | Glycine | ||
DB00133 | dihydrofolate reductase | approved; nutraceutical | L-Serine | ||
DB00158 | dihydrofolate reductase | approved; nutraceutical | Folic Acid | ||
DB00544 | dihydrofolate reductase | approved | Fluorouracil | ||
DB01050 | dihydrofolate reductase | approved | Ibuprofen |
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Cross referenced IDs for DHFR |
* 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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