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mutLBSgeneDB |
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| Gene summary for GAMT |
 Gene summary |
| Basic gene Info. | Gene symbol | GAMT |
| Gene name | guanidinoacetate N-methyltransferase | |
| Synonyms | CCDS2|HEL-S-20|PIG2|TP53I2 | |
| Cytomap | UCSC genome browser: 19p13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000156.5, NM_138924.2, | |
| Description | epididymis secretory protein Li 20 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 601240 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000130005 | ||
| HPRD : 03142 | ||
| Vega : OTTHUMG00000180095 | ||
| Protein | UniProt: Q14353 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GAMT | |
| BioGPS: 2593 | ||
| Pathway | NCI Pathway Interaction Database: GAMT | |
| KEGG: GAMT | ||
| REACTOME: GAMT | ||
| Pathway Commons: GAMT | ||
| Context | iHOP: GAMT | |
| ligand binding site mutation search in PubMed: GAMT | ||
| UCL Cancer Institute: GAMT | ||
| 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:0006601 | creatine biosynthetic process | 8651275 |
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| Ligand binding site mutations for GAMT |
| 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 | V95 | V95I | UCEC | 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 GAMT |
| 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 | V95 | V95I | -1.192103 |
| (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 GAMT from PDB |
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| Differential gene expression and gene-gene network for GAMT |
| 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 GAMT |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0574080 | Guanidinoacetate methyltransferase deficiency | 5 | Biomarker, GeneticVariation |
| umls:C0002514 | Amino Acid Metabolism, Inborn Errors | 1 | Biomarker |
| umls:C3714756 | Intellectual Disability | 1 | Biomarker |
| umls:C0036572 | Seizures | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GAMT |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|nutraceutical | DB00148 | Creatine | Small molecule |  |
| Approved | DB00536 | Guanidine | Small molecule |  |
| Experimental | DB01752 | S-Adenosyl-L-Homocysteine | Small molecule |  |
| Experimental | DB02751 | N-[Amino(Imino)Methyl]Glycine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of GAMT go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 3orh | A | V95 | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 3orh | B | V95 | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 3orh | C | V95 | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 3orh | D | V95 |
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| Conservation information for LBS of GAMT |
| Multiple alignments for Q14353 in multiple species |
| LBS | AA sequence | # species | Species | A72 | IGFGMAIAATK | 2 | Danio rerio, Xenopus tropicalis | A72 | VGFGMAIAASK | 1 | Homo sapiens | A72 | VGFGMAIAASR | 1 | Mus musculus | A72 | VGFGMAIAATK | 1 | Bos taurus | A74 | FGMAIAASKVQ | 1 | Homo sapiens | A74 | FGMAIAASRVQ | 1 | Mus musculus | A74 | FGMAIAATKVQ | 1 | Bos taurus | A74 | FGMAIAATKVE | 1 | Danio rerio | A74 | FGMAIAATKLE | 1 | Xenopus tropicalis | C91 | HWIIECNDGVF | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | C91 | HWIIECNEGVF | 1 | Bos taurus | D135 | DGILYDTYPLS | 5 | Homo sapiens, Mus musculus, Bos taurus, Danio rerio, Xenopus tropicalis | E118 | LKGLWEEVAPT | 3 | Mus musculus, Bos taurus, Danio rerio | E118 | LKGLWEDVAPT | 1 | Homo sapiens | E118 | LKGLWEDVVPT | 1 | Xenopus tropicalis | E90 | EHWIIECNDGV | 4 | Homo sapiens, Mus musculus, Danio rerio, Xenopus tropicalis | E90 | EHWIIECNEGV | 1 | Bos taurus | G115 | VVPLKGLWEEV | 3 | Mus musculus, Bos taurus, Danio rerio | G115 | VIPLKGLWEDV | 1 | Homo sapiens | G115 | IVPLKGLWEDV | 1 | Xenopus tropicalis | G68 | RVLEVGFGMAI | 3 | Homo sapiens, Mus musculus, Bos taurus | G68 | RVLEIGFGMAI | 2 | Danio rerio, Xenopus tropicalis | G70 | LEVGFGMAIAA | 3 | Homo sapiens, Mus musculus, Bos taurus | G70 | LEIGFGMAIAA | 2 | Danio rerio, Xenopus tropicalis | I36 | DTHLQILGKPV | 2 | Mus musculus, Bos taurus | I36 | DTHLRILGKPV | 1 | Homo sapiens | I36 | DTHLEIMGKPV | 1 | Danio rerio | I36 | DTHLEILGKPV | 1 | Xenopus tropicalis | I73 | GFGMAIAATKV | 2 | Bos taurus, Danio rerio | I73 | GFGMAIAASKV | 1 | Homo sapiens | I73 | GFGMAIAASRV | 1 | Mus musculus | I73 | GFGMAIAATKL | 1 | Xenopus tropicalis | L116 | VPLKGLWEEVA | 3 | Mus musculus, Bos taurus, Danio rerio | L116 | IPLKGLWEDVA | 1 | Homo sapiens | L116 | VPLKGLWEDVV | 1 | Xenopus tropicalis | L139 | YDTYPLSEETW | 4 | Homo sapiens, Bos taurus, Danio rerio, Xenopus tropicalis | L139 | YDTYPLSEEAW | 1 | Mus musculus | M42 | LGKPVMERWET | 4 | Homo sapiens, Mus musculus, Bos taurus, Xenopus tropicalis | M42 | MGKPVMERWET | 1 | Danio rerio | M50 | WETPYMHALAA | 3 | Homo sapiens, Mus musculus, Bos taurus | M50 | WETPYMHSLAT | 1 | Danio rerio | M50 | WETPYMHSLAS | 1 | Xenopus tropicalis | M71 | EVGFGMAIAAS | 2 | Homo sapiens, Mus musculus | M71 | EIGFGMAIAAT | 2 | Danio rerio, Xenopus tropicalis | M71 | EVGFGMAIAAT | 1 | Bos taurus | N92 | WIIECNDGVFQ | 3 | Homo sapiens, Mus musculus, Danio rerio | N92 | WIIECNEGVFQ | 1 | Bos taurus | N92 | WIIECNDGVFK | 1 | Xenopus tropicalis | T136 | GILYDTYPLSE | 5 | Homo sapiens, Mus musculus, Bos taurus, Danio rerio, Xenopus tropicalis | V41 | ILGKPVMERWE | 4 | Homo sapiens, Mus musculus, Bos taurus, Xenopus tropicalis | V41 | IMGKPVMERWE | 1 | Danio rerio | V95 | ECNDGVFQRLQ | 2 | Mus musculus, Danio rerio | V95 | ECNDGVFQRLR | 1 | Homo sapiens | V95 | ECNEGVFQRLQ | 1 | Bos taurus | V95 | ECNDGVFKRLQ | 1 | Xenopus tropicalis | W117 | PLKGLWEEVAP | 3 | Mus musculus, Bos taurus, Danio rerio | W117 | PLKGLWEDVAP | 1 | Homo sapiens | W117 | PLKGLWEDVVP | 1 | Xenopus tropicalis | W20 | NCSPAWGAAPA | 1 | Homo sapiens | W20 | DCGPAWRAAPA | 1 | Mus musculus | W20 | NCSPAWRAAPA | 1 | Bos taurus | W20 | NCKQVWHDANA | 1 | Danio rerio | W20 | SCKSAWHNATA | 1 | Xenopus tropicalis | Y137 | ILYDTYPLSEE | 5 | Homo sapiens, Mus musculus, Bos taurus, Danio rerio, Xenopus tropicalis |
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