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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for CTNNB1 |
Basic gene info. | Gene symbol | CTNNB1 |
Gene name | catenin (cadherin-associated protein), beta 1, 88kDa | |
Synonyms | CTNNB|MRD19|armadillo | |
Cytomap | UCSC genome browser: 3p21 | |
Genomic location | chr3 :41240941-41281939 | |
Type of gene | protein-coding | |
RefGenes | NM_001098209.1, NM_001098210.1,NM_001904.3, | |
Ensembl id | ENSG00000168036 | |
Description | catenin beta-1 | |
Modification date | 20141222 | |
dbXrefs | MIM : 116806 | |
HGNC : HGNC | ||
Ensembl : ENSG00000168036 | ||
HPRD : 00286 | ||
Vega : OTTHUMG00000131393 | ||
Protein | UniProt: P35222 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CTNNB1 | |
BioGPS: 1499 | ||
Gene Expression Atlas: ENSG00000168036 | ||
The Human Protein Atlas: ENSG00000168036 | ||
Pathway | NCI Pathway Interaction Database: CTNNB1 | |
KEGG: CTNNB1 | ||
REACTOME: CTNNB1 | ||
ConsensusPathDB | ||
Pathway Commons: CTNNB1 | ||
Metabolism | MetaCyc: CTNNB1 | |
HUMANCyc: CTNNB1 | ||
Regulation | Ensembl's Regulation: ENSG00000168036 | |
miRBase: chr3 :41,240,941-41,281,939 | ||
TargetScan: NM_001098209 | ||
cisRED: ENSG00000168036 | ||
Context | iHOP: CTNNB1 | |
cancer metabolism search in PubMed: CTNNB1 | ||
UCL Cancer Institute: CTNNB1 | ||
Assigned class in ccmGDB | A - This gene has a literature evidence and it belongs to cancer gene. | |
References showing role of CTNNB1 in cancer cell metabolism | 1. Tu HC, Schwitalla S, Qian Z, LaPier GS, Yermalovich A, et al. (2015) LIN28 cooperates with WNT signaling to drive invasive intestinal and colorectal adenocarcinoma in mice and humans. Genes Dev 29: 1074-1086. doi: 10.1101/gad.256693.114. pmid: 4441054. go to article 2. Kabatkova M, Zapletal O, Tylichova Z, Neca J, Machala M, et al. (2015) Inhibition of beta-catenin signalling promotes DNA damage elicited by benzo[a]pyrene in a model of human colon cancer cells via CYP1 deregulation. Mutagenesis 30: 565-576. doi: 10.1093/mutage/gev019. go to article 3. Wang T, Wang G, Hao D, Liu X, Wang D, et al. (2015) Aberrant regulation of the LIN28A/LIN28B and let-7 loop in human malignant tumors and its effects on the hallmarks of cancer. Mol Cancer 14: 125. doi: 10.1186/s12943-015-0402-5 go to article 4. Benham-Pyle BW, Pruitt BL, Nelson WJ (2015) Cell adhesion. Mechanical strain induces E-cadherin-dependent Yap1 and beta-catenin activation to drive cell cycle entry. Science 348: 1024-1027. doi: 10.1126/science.aaa4559. go to article |
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Phenotypic Information for CTNNB1(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: CTNNB1 |
Familial Cancer Database: CTNNB1 |
* This gene is included in those cancer gene databases. |
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Oncogene 1 |
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, 6 http://www.nature.com/nature/journal/v487/n7407/full/nature11252.html, 7 http://www.nature.com/nature/journal/v497/n7447/full/nature12113.html, 8 http://www.sciencedirect.com/science/article/pii/S0092867415006340, 9Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
Metabolic Pathway Description | |
REACTOME_INTEGRATION_OF_ENERGY_METABOLISM |
Others | |
OMIM | 114500; phenotype. 116806; gene. 132600; phenotype. 155255; phenotype. 156240; phenotype. 167000; phenotype. 181030; phenotype. 615075; phenotype. |
Orphanet | 404473; Severe intellectual disability-progressive spastic diplegia syndrome. 54595; Craniopharyngioma. 85142; Aldosterone-producing adenoma. 873; Desmoid tumor. 88673; Hepatocellular carcinoma. 91414; Pilomatrixoma. |
Disease | KEGG Disease: CTNNB1 |
MedGen: CTNNB1 (Human Medical Genetics with Condition) | |
ClinVar: CTNNB1 | |
Phenotype | MGI: CTNNB1 (International Mouse Phenotyping Consortium) |
PhenomicDB: CTNNB1 |
Mutations for CTNNB1 |
* 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 |
There's no structural variation information in COSMIC data for this gene. |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows CTNNB1 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 |
BE177332 | CTNNB1 | 35 | 300 | 3 | 41281158 | 41281426 | SREK1 | 292 | 585 | 5 | 65452064 | 65452357 | |
AK098472 | CTNNB1 | 22 | 1335 | 3 | 41274831 | 41281339 | BOLA2 | 1329 | 2265 | 16 | 29454551 | 29465668 | |
DA715882 | RHOA | 1 | 150 | 3 | 49449252 | 49449401 | CTNNB1 | 148 | 552 | 3 | 41265510 | 41266558 | |
AW361450 | CTNNB1 | 1 | 412 | 3 | 41280355 | 41280764 | AKAP11 | 412 | 539 | 13 | 42869356 | 42869483 | |
BI003062 | TG | 11 | 281 | 8 | 133907316 | 133907588 | CTNNB1 | 277 | 513 | 3 | 41279542 | 41280835 | |
BE835337 | CTNNB1 | 1 | 226 | 3 | 41281010 | 41281235 | MRPS33 | 216 | 385 | 7 | 140706014 | 140706183 | |
DB360697 | TTLL9 | 1 | 263 | 20 | 30469426 | 30469688 | CTNNB1 | 264 | 543 | 3 | 41280671 | 41281414 | |
DA215427 | CTNNB1 | 3 | 173 | 3 | 41240992 | 41241162 | FAR1 | 171 | 538 | 11 | 13743275 | 13750266 | |
BP232398 | CTNNB1 | 1 | 420 | 3 | 41240981 | 41266194 | OLFML2B | 421 | 582 | 1 | 161993499 | 161993659 | |
DB330856 | GNB2L1 | 1 | 189 | 5 | 180663937 | 180664690 | CTNNB1 | 185 | 479 | 3 | 41274841 | 41275219 | |
AF130085 | SCAF11 | 1 | 1064 | 12 | 46324225 | 46325288 | CTNNB1 | 1055 | 2345 | 3 | 41277163 | 41278958 |
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 | 1 | 1 | 2 |   |   |   | 1 |   | 2 |   | 1 |   |   |   |   | 1 |   | |||
GAIN (# sample) | 1 | 1 |   |   |   |   |   |   | 1 |   |   |   |   |   |   | 1 |   | |||
LOSS (# sample) |   |   | 2 |   |   |   | 1 |   | 1 |   | 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=2584) | (# total SNVs=96) |
(# total SNVs=348) | (# total SNVs=9) |
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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 |
chr3:41266124-41266124 | p.T41S | 837 |
chr3:41266137-41266137 | p.S45F | 573 |
chr3:41266113-41266113 | p.S37F | 395 |
chr3:41266101-41266101 | p.S33F | 374 |
chr3:41266097-41266097 | p.D32Y | 283 |
chr3:41266136-41266136 | p.S45A | 244 |
chr3:41266104-41266104 | p.G34V | 177 |
chr3:41266098-41266098 | p.D32V | 132 |
chr3:41266103-41266103 | p.G34R | 108 |
chr3:41266125-41266125 | p.T41I | 104 |
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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 | 1 | 103 | 4 |   | 2 |   | 1 | 1 |   | 11 | 6 | 2 | 1 | 3 | 7 | 12 | 2 | 78 |
# mutation |   | 3 | 1 | 88 | 5 |   | 2 |   | 1 | 1 |   | 11 | 7 | 2 | 1 | 3 | 7 | 14 | 2 | 34 |
nonsynonymous SNV |   | 1 | 1 | 60 | 2 |   |   |   | 1 |   |   | 11 | 4 | 1 | 1 | 3 | 7 | 13 | 2 | 26 |
synonymous SNV |   | 2 |   | 29 | 3 |   | 2 |   |   | 1 |   |   | 3 | 1 |   |   |   | 1 |   | 8 |
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 |
chr3:41266113 | p.S37F,CTNNB1 | 20 |
chr3:41266101 | p.S33C,CTNNB1 | 16 |
chr3:41266097 | p.D32H,CTNNB1 | 12 |
chr3:41266103 | p.G34R,CTNNB1 | 7 |
chr3:41266181 | p.G245C,CTNNB1 | 6 |
chr3:41267062 | p.S60P,CTNNB1 | 6 |
chr3:41266137 | p.S47G,CTNNB1 | 5 |
chr3:41266125 | p.G245V,CTNNB1 | 5 |
chr3:41266142 | p.S33P,CTNNB1 | 5 |
chr3:41266112 | p.T41I,CTNNB1 | 5 |
Other DBs for Point Mutations |
Copy Number for CTNNB1 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 CTNNB1 |
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. |
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Protein Expression Plot (RPPA) |
*RPPA protein expression data were extracted from TCPA (The Cancer Proteome Atlas). Normalized data based on replicated based normalization (RBN) was used to draw following figures. |
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 |
BTBD17,PPP1R17,CTNNB1,DHX36,EPHA7,ITGA6,ITGA9, KANK4,MAML2,OXSR1,PRKD3,SMARCC1,SOCS5,STAG1, TBR1,TOP2B,WDR48,YAP1,ZNF445,ZNF619,ZNF660 | ANO1,DIEXF,CTNNB1,DDX31,EHF,ESYT3,ETV5, ETV6,FAT2,GRHL1,LY75,METAP1,NALCN,PIK3C2G, QTRTD1,RFC5,SFRP1,SHANK2,SMARCC1,SUDS3,ZNF667 | ||||
ACTR8,FAM217B,CACHD1,CAPN7,CD46,CLASP2,CTNNB1, GLB1,GLCE,GLS,KLHL23,MAPK14,MGAT5,NAALADL2, PPP4R2,PRKAR2A,PROX1,STT3B,WDR48,XRCC5,ZAK | ADIPOR2,BACH1,CAB39,CTNNB1,DYRK2,ERBB2IP,EZR, KIF16B,LMO7,LUZP1,MALL,MYO1E,PELI2,PICALM, PTPRH,RAB22A,RAB5A,RHOF,RIPK1,SOCS6,URGCP |
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 CTNNB1 |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Chemistry | BindingDB | P35222; -. |
Chemistry | ChEMBL | CHEMBL3038464; -. |
Organism-specific databases | PharmGKB | PA27013; -. |
Organism-specific databases | CTD | 1499; -. |
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 |
DB03904 | catenin (cadherin-associated protein), beta 1, 88kDa | experimental | Urea | ||
DB00125 | catenin (cadherin-associated protein), beta 1, 88kDa | approved; nutraceutical | L-Arginine | ||
DB00435 | catenin (cadherin-associated protein), beta 1, 88kDa | approved | Nitric Oxide | ||
DB00122 | catenin (cadherin-associated protein), beta 1, 88kDa | approved; nutraceutical | Choline | ||
DB00482 | catenin (cadherin-associated protein), beta 1, 88kDa | approved; investigational | Celecoxib |
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Cross referenced IDs for CTNNB1 |
* 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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