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mutLBSgeneDB |
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| Gene summary for TGS1 |
 Gene summary |
| Basic gene Info. | Gene symbol | TGS1 |
| Gene name | trimethylguanosine synthase 1 | |
| Synonyms | NCOA6IP|PIMT|PIPMT | |
| Cytomap | UCSC genome browser: 8q11 | |
| Type of gene | protein-coding | |
| RefGenes | NM_024831.6, | |
| Description | CLL-associated antigen KW-2PRIP-interacting protein PIPMTPRIP-interacting protein with methyltransferase domainPRIP-interacting protein with methyltransferase motifSEREX-definedcap-specific guanine-N2 methyltransferasehepatocellular carcinoma-associ | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606461 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000137574 | ||
| HPRD : 07567 | ||
| Vega : OTTHUMG00000164294 | ||
| Protein | UniProt: Q96RS0 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TGS1 | |
| BioGPS: 96764 | ||
| Pathway | NCI Pathway Interaction Database: TGS1 | |
| KEGG: TGS1 | ||
| REACTOME: TGS1 | ||
| Pathway Commons: TGS1 | ||
| Context | iHOP: TGS1 | |
| ligand binding site mutation search in PubMed: TGS1 | ||
| UCL Cancer Institute: TGS1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0036261 | 7-methylguanosine cap hypermethylation | 16687569 |
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| Ligand binding site mutations for TGS1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K724 | A726S | COAD | 1 | R807 | L805I | COAD | 1 | K724 | A726V | COAD | 1 | K724 | A726S | LUAD | 1 | A697 | A697T | LUAD | 1 | D719 | D719N | LUAD | 1 | K724 | A726G | OV | 1 | R807 | L805F | SKCM | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, 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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| Protein structure related information for TGS1 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | R807 | L805F | -1.4206872 | K724 | A726G | -1.3447054 | K724 | A726S | -1.3376995 | R807 | L805I | -1.2617671 | A697 | A697T | -1.1049773 | K724 | A726V | -0.84709103 | D719 | D719N | -0.48542785 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for TGS1 from PDB |
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| Differential gene expression and gene-gene network for TGS1 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for TGS1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for TGS1 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of TGS1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ADP | ADP | 3egi | A | A697 D719 K724 | ADP | ADP | 3egi | B | A697 D719 K724 | ADP | ADP | 3egi | C | A697 D719 K724 | ADP | ADP | 3egi | D | A697 D719 K724 | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 3gdh | A | A697 D719 K724 | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 3gdh | B | A697 D719 K724 | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 3gdh | C | A697 D719 K724 | MGP | 7-METHYL-GUANOSINE-5'-TRIPHOSPHATE | 3gdh | A | R807 | MGP | 7-METHYL-GUANOSINE-5'-TRIPHOSPHATE | 3gdh | B | R807 | MGP | 7-METHYL-GUANOSINE-5'-TRIPHOSPHATE | 3gdh | C | R807 |
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| Conservation information for LBS of TGS1 |
| Multiple alignments for Q96RS0 in multiple species |
| LBS | AA sequence | # species | Species | A697 | DVVVDAFCGVG | 2 | Homo sapiens, Mus musculus | A697 | DIIVDAFCGVG | 1 | Rattus norvegicus | C699 | VVDAFCGVGGN | 2 | Homo sapiens, Mus musculus | C699 | IVDAFCGVGGN | 1 | Rattus norvegicus | D719 | RVIAIDIDPVK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D721 | IAIDIDPVKID | 2 | Mus musculus, Rattus norvegicus | D721 | IAIDIDPVKIA | 1 | Homo sapiens | D747 | EFICGDFLLLA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E667 | IKLDKEGWFSV | 2 | Mus musculus, Rattus norvegicus | E667 | IKLDREGWFSV | 1 | Homo sapiens | F670 | DKEGWFSVTPE | 2 | Mus musculus, Rattus norvegicus | F670 | DREGWFSVTPE | 1 | Homo sapiens | F698 | VVVDAFCGVGG | 2 | Homo sapiens, Mus musculus | F698 | IIVDAFCGVGG | 1 | Rattus norvegicus | F748 | FICGDFLLLAP | 2 | Mus musculus, Rattus norvegicus | F748 | FICGDFLLLAS | 1 | Homo sapiens | G700 | VDAFCGVGGNT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G703 | FCGVGGNTIQF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G746 | IEFICGDFLLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G768 | SPPWGGPDYAT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I720 | VIAIDIDPVKI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K646 | VPELAKYWAQR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K724 | DIDPVKIDLAR | 2 | Mus musculus, Rattus norvegicus | K724 | DIDPVKIALAR | 1 | Homo sapiens | K834 | NFLNNKLKTIT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K836 | LNNKLKTITAY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N704 | CGVGGNTIQFA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P674 | WFSVTPEKIAE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P764 | VVFLSPPWGGP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P765 | VFLSPPWGGPD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R807 | VYFLPRNADID | 2 | Homo sapiens, Mus musculus | R807 | VYFLPRNADVD | 1 | Rattus norvegicus | S671 | KEGWFSVTPEK | 2 | Mus musculus, Rattus norvegicus | S671 | REGWFSVTPEK | 1 | Homo sapiens | S763 | DVVFLSPPWGG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T673 | GWFSVTPEKIA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T837 | NNKLKTITAYF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V672 | EGWFSVTPEKI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V701 | DAFCGVGGNTI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W766 | FLSPPWGGPDY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y647 | PELAKYWAQRY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y771 | WGGPDYATAET | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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