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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for MTR |
Basic gene info. | Gene symbol | MTR |
Gene name | 5-methyltetrahydrofolate-homocysteine methyltransferase | |
Synonyms | HMAG|MS|cblG | |
Cytomap | UCSC genome browser: 1q43 | |
Genomic location | chr1 :236958580-237067281 | |
Type of gene | protein-coding | |
RefGenes | NM_000254.2, NM_001291939.1,NM_001291940.1, | |
Ensembl id | ENSG00000116984 | |
Description | 5-methyltetrahydrofolate-homocysteine methyltransferase 1cobalamin-dependent methionine synthasemethionine synthasevitamin-B12 dependent methionine synthase | |
Modification date | 20141219 | |
dbXrefs | MIM : 156570 | |
HGNC : HGNC | ||
Ensembl : ENSG00000116984 | ||
HPRD : 01136 | ||
Vega : OTTHUMG00000040060 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_MTR | |
BioGPS: 4548 | ||
Gene Expression Atlas: ENSG00000116984 | ||
The Human Protein Atlas: ENSG00000116984 | ||
Pathway | NCI Pathway Interaction Database: MTR | |
KEGG: MTR | ||
REACTOME: MTR | ||
ConsensusPathDB | ||
Pathway Commons: MTR | ||
Metabolism | MetaCyc: MTR | |
HUMANCyc: MTR | ||
Regulation | Ensembl's Regulation: ENSG00000116984 | |
miRBase: chr1 :236,958,580-237,067,281 | ||
TargetScan: NM_000254 | ||
cisRED: ENSG00000116984 | ||
Context | iHOP: MTR | |
cancer metabolism search in PubMed: MTR | ||
UCL Cancer Institute: MTR | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for MTR(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: MTR |
Familial Cancer Database: MTR |
* This gene is included in those cancer gene databases. |
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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 | |
KEGG_CYSTEINE_AND_METHIONINE_METABOLISM REACTOME_SULFUR_AMINO_ACID_METABOLISM REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: MTR |
MedGen: MTR (Human Medical Genetics with Condition) | |
ClinVar: MTR | |
Phenotype | MGI: MTR (International Mouse Phenotyping Consortium) |
PhenomicDB: MTR |
Mutations for MTR |
* 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 |
- Statistics for Tissue and Mutation type | Top |
- For Inter-chromosomal Variations |
There's no inter-chromosomal structural variation. |
- For Intra-chromosomal Variations |
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'. |
Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
pancreas | MTR | chr1 | 237046024 | 237046044 | MTR | chr1 | 237046787 | 237046807 |
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract) |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows MTR 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 |
AW841012 | MTR | 9 | 264 | 1 | 237061346 | 237061603 | CCAR1 | 262 | 485 | 10 | 70525663 | 70531012 | |
BE767082 | MTR | 12 | 155 | 1 | 237064437 | 237064582 | CC2D2A | 150 | 351 | 4 | 15511759 | 15512966 | |
CV363529 | MTR | 1 | 155 | 1 | 237052621 | 237054571 | MTR | 147 | 477 | 1 | 237057750 | 237060335 | |
BG986763 | MTR | 123 | 358 | 1 | 236964888 | 236965122 | PGM5 | 347 | 366 | 9 | 71047627 | 71047646 | |
AW841013 | MTR | 2 | 255 | 1 | 237061350 | 237061603 | CCAR1 | 253 | 434 | 10 | 70525705 | 70531012 |
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 | 3 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
GAIN (# sample) | 2 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
LOSS (# sample) | 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=86) | (# total SNVs=35) |
(# total SNVs=4) | (# total SNVs=4) |
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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 |
chr1:237024474-237024474 | p.K700fs*8 | 5 |
chr1:237058828-237058828 | p.L1192L | 3 |
chr1:236998969-236998969 | p.S437S | 2 |
chr1:236976058-236976058 | p.A175T | 2 |
chr1:237001790-237001790 | p.V469A | 2 |
chr1:236988699-236988699 | p.K309N | 2 |
chr1:237048500-237048500 | p.D919G | 2 |
chr1:236973825-236973825 | p.G144G | 2 |
chr1:237037139-237037139 | p.A824A | 2 |
chr1:236992548-236992548 | p.E352V | 2 |
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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 | 5 | 1 | 8 |   |   | 2 |   | 1 |   |   | 17 | 8 | 2 | 1 |   | 9 | 14 | 1 | 16 |
# mutation | 3 | 6 | 1 | 9 |   |   | 2 |   | 1 |   |   | 18 | 9 | 2 | 1 |   | 9 | 17 | 1 | 19 |
nonsynonymous SNV | 3 | 4 |   | 7 |   |   | 2 |   | 1 |   |   | 14 | 7 |   | 1 |   | 8 | 11 | 1 | 12 |
synonymous SNV |   | 2 | 1 | 2 |   |   |   |   |   |   |   | 4 | 2 | 2 |   |   | 1 | 6 |   | 7 |
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 |
chr1:237057790 | p.A1036T,MTR | 2 |
chr1:236992548 | p.E48K,MTR | 2 |
chr1:236966835 | p.A1062D,MTR | 2 |
chr1:236976058 | p.E352V,MTR | 2 |
chr1:237057711 | p.S30S,MTR | 2 |
chr1:236998969 | p.V62A,MTR | 2 |
chr1:237001790 | p.A175T,MTR | 2 |
chr1:237016305 | p.S64S,MTR | 1 |
chr1:237054505 | p.N290T,MTR | 1 |
chr1:236973863 | p.G888G,MTR | 1 |
Other DBs for Point Mutations |
Copy Number for MTR 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 MTR |
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 |
ABCB10,AHCTF1,ANGEL2,ARID4B,ASH1L,SPRTN,SDE2, BROX,CEP350,CNST,EXOC8,HEATR1,KLHL20,MTR, NUP133,RAB3GAP2,TOR1AIP1,TOR1AIP2,TPR,ZNF281,ZNF678 | APC,ASXL2,ATE1,ATF7IP,ATG2B,CEP350,DPP8, AGO4,FAM178A,KIAA1109,KIAA2018,MARCH6,MED13,MTR, SMG1,TNKS2,TTBK2,UBR2,VPS13A,ZDBF2,ZFX | ||||
ABL2,ARHGEF11,ARID4B,ASH1L,PRRC2C,DIEXF,CEP350, DCAF8,DSTYK,GATAD2B,GON4L,HEATR1,MTR,POGK, POGZ,RAB3GAP2,RPRD2,SETDB1,TP53BP2,TPR,ZC3H11A | ATF7,ATRX,CHD6,COL5A2,FAM120C,FRMD4A,HIP1, LAMC1,MCC,MTR,MTX3,NEK1,NEK9,NFIA, PCDHGB3,PDZD2,REV3L,SLC41A1,TTC28,ZNF37A,ZNF445 |
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 MTR |
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 |
DB00115 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved; nutraceutical | Cyanocobalamin | ||
DB00116 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved; nutraceutical | Tetrahydrofolic acid | ||
DB00134 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved; nutraceutical | L-Methionine | ||
DB00200 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved | Hydroxocobalamin | ||
DB03614 | 5-methyltetrahydrofolate-homocysteine methyltransferase | experimental | Co-Methylcobalamin | ||
DB00515 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved | Cisplatin | ||
DB00531 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved; investigational | Cyclophosphamide | ||
DB00970 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved | Dactinomycin | ||
DB00997 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved; investigational | Doxorubicin | ||
DB00541 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved; investigational | Vincristine | ||
DB01611 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved | Hydroxychloroquine | ||
DB00795 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved | Sulfasalazine | ||
DB00898 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved | Ethanol | ||
DB00544 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved | Fluorouracil | ||
DB00650 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved | Leucovorin | ||
DB00526 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved; investigational | Oxaliplatin | ||
DB00640 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved; investigational | Adenosine | ||
DB00158 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved; nutraceutical | Folic Acid | ||
DB00165 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved; nutraceutical | Pyridoxine | ||
DB00563 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved | Methotrexate | ||
DB00460 | 5-methyltetrahydrofolate-homocysteine methyltransferase | approved; investigational | Verteporfin |
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Cross referenced IDs for MTR |
* 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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