TissGeneSummary for GAMT |
Gene summary |
Basic gene information | 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: 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 TissGDB* | C | |
Included tissue-specific gene expression resources | TiGER,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Liver | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHC | |
Reference showing the relevant tissue of GAMT | ||
Description by TissGene annotations |
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO term | PubMed ID | GO:0006601 | creatine biosynthetic process | 8651275 | GO:0006601 | creatine biosynthetic process | 8651275 |
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TissGeneExp for GAMT |
Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
STAD | -1.694788562 | 0.337636438 | -2.032425 | 2.31E-08 | 8.81E-07 |
LUSC | 0.10945096 | -0.990721589 | 1.100172549 | 2.06E-07 | 5.60E-07 |
HNSC | -0.101262036 | 1.419630987 | -1.520893023 | 9.13E-06 | 5.24E-05 |
KICH | -0.333114687 | 1.611373313 | -1.944488 | 2.81E-08 | 1.39E-07 |
ESCA | -1.903848506 | 0.639333313 | -2.543181818 | 0.000297 | 0.006809567 |
BLCA | -1.215693003 | 0.46931226 | -1.685005263 | 0.000335 | 0.002968287 |
COAD | -2.748101303 | -1.561708995 | -1.186392308 | 8.79E-05 | 0.000326422 |
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TissGene-miRNA for GAMT |
Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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TissGeneMut for GAMT |
TissGeneSNV for GAMT |
nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.P227L | ESCA | 2 |
p.E191D | HNSC | 1 |
p.W174C | BRCA | 1 |
p.V95I | UCEC | 1 |
p.A156T | UCEC | 1 |
p.E118K | SKCM | 1 |
p.Y223C | COAD | 1 |
p.G208R | SKCM | 1 |
p.S173F | SKCM | 1 |
p.R158C | HNSC | 1 |
p.L218I | ESCA | 1 |
p.R100W | UCEC | 1 |
p.K153E | COAD | 1 |
p.G175E | SKCM | 1 |
p.P217L | GBM | 1 |
p.R158H | COAD | 1 |
p.M228I | SKCM | 1 |
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TissGeneCNV for GAMT |
Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for GAMT |
Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
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TissGeneNet for GAMT |
Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for GAMT |
Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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TissGeneClin for GAMT |
TissGeneDrug for GAMT |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
DB00148 | Creatine | Product of | Small molecule | Approved|Nutraceutical |
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TissGeneDisease for GAMT |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0574080 | Guanidinoacetate methyltransferase deficiency | 5 | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT |
umls:C1845862 | Creatine deficiency, X-linked | 2 | BeFree |
umls:C0002514 | Amino Acid Metabolism, Inborn Errors | 1 | CTD_human |
umls:C0036572 | Seizures | 1 | CTD_human |
umls:C0080178 | Spina Bifida | 1 | GAD |
umls:C0948008 | Ischemic stroke | 1 | BeFree |
umls:C3272363 | Ischemic Cerebrovascular Accident | 1 | BeFree |
umls:C3714756 | Intellectual Disability | 1 | CTD_human |