TissGeneSummary for TBL2 |
Gene summary |
Basic gene information | Gene symbol | TBL2 |
Gene name | transducin (beta)-like 2 | |
Synonyms | WBSCR13|WS-betaTRP | |
Cytomap | UCSC genome browser: 7q11.23 | |
Type of gene | protein-coding | |
RefGenes | NM_012453.2, NM_032988.1, | |
Description | WS beta-transducin repeats proteinWilliams-Beuren syndrome chromosome region 13transducin beta-like protein 2 | |
Modification date | 20141207 | |
dbXrefs | MIM : 605842 | |
HGNC : HGNC | ||
Ensembl : ENSG00000106638 | ||
HPRD : 09319 | ||
Vega : OTTHUMG00000023427 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_TBL2 | |
BioGPS: 26608 | ||
Pathway | NCI Pathway Interaction Database: TBL2 | |
KEGG: TBL2 | ||
REACTOME: TBL2 | ||
Pathway Commons: TBL2 | ||
Context | iHOP: TBL2 | |
ligand binding site mutation search in PubMed: TBL2 | ||
UCL Cancer Institute: TBL2 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | HPA,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Testis | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCT | |
Reference showing the relevant tissue of TBL2 | ||
Description by TissGene annotations | TissgsLTS |
* 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 |
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TissGeneExp for TBL2 |
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 |
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TissGene-miRNA for TBL2 |
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 |
ACC | hsa-miR-142-3p.2 | 0.022 | -0.26 | 78 | |
ACC | hsa-miR-142-3p.2 | 0.022 | -0.26 | 78 |
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TissGeneMut for TBL2 |
TissGeneSNV for TBL2 |
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.R131G | BLCA | 1 |
p.K276N | LIHC | 1 |
p.I354V | STAD | 1 |
p.E422* | LUAD | 1 |
p.A139T | SKCM | 1 |
p.R143H | UVM | 1 |
p.D382N | COAD | 1 |
p.T199P | UCEC | 1 |
p.A338T | ACC | 1 |
p.H355Y | STAD | 1 |
p.P341S | SKCM | 1 |
p.R80H | UCEC | 1 |
p.S390F | UCEC | 1 |
p.R397W | STAD | 1 |
p.G324V | LUSC | 1 |
p.P318S | SKCM | 1 |
p.K254E | COAD | 1 |
p.I354S | THCA | 1 |
p.R150W | UCEC | 1 |
p.R115C | COAD | 1 |
p.R271Q | UCEC | 1 |
p.P146S | KIRP | 1 |
p.L15F | THCA | 1 |
p.S420F | SKCM | 1 |
p.A106D | UCS | 1 |
p.E374K | UCEC | 1 |
p.S352G | LUAD | 1 |
p.R115H | UCEC | 1 |
p.A280T | LUSC | 1 |
p.L222M | ESCA | 1 |
p.R397Q | STAD | 1 |
p.A189V | UCEC | 1 |
p.E8Q | BRCA | 1 |
p.P184S | SKCM | 1 |
p.P334S | HNSC | 1 |
p.T167I | SKCM | 1 |
p.S39R | READ | 1 |
p.A343V | SKCM | 1 |
p.S88R | THYM | 1 |
p.D193N | PAAD | 1 |
p.H400D | BRCA | 1 |
p.R162C | STAD | 1 |
p.Q429H | CESC | 1 |
p.A280V | HNSC | 1 |
p.A280V | STAD | 1 |
p.L213F | SKCM | 1 |
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TissGeneCNV for TBL2 |
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 TBL2 |
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 |
Chimerdb3.0 | TopHat-Fusion | BRCA | TCGA-OK-A5Q2-01A | CALN1-TBL2 | In-Frame | chr7:71418127 | chr7:72988267 |
Chimerdb3.0 | TopHat-Fusion | BRCA | TCGA-OK-A5Q2-01A | CALN1-TBL2 | In-Frame | chr7:71422116 | chr7:72988290 |
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TissGeneNet for TBL2 |
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 TBL2 |
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 TBL2 |
TissGeneDrug for TBL2 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for TBL2 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | GAD |
umls:C0020557 | Hypertriglyceridemia | 1 | GAD |
umls:C0154251 | Lipid Metabolism Disorders | 1 | GAD |
umls:C1522137 | Hypertriglyceridemia result | 1 | GAD |
umls:C0175702 | Williams Syndrome | 0 | ORPHANET |