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mutLBSgeneDB |
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| Gene summary for PAX3 |
 Gene summary |
| Basic gene Info. | Gene symbol | PAX3 |
| Gene name | paired box 3 | |
| Synonyms | CDHS|HUP2|WS1|WS3 | |
| Cytomap | UCSC genome browser: 2q35 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000438.5, NM_001127366.2,NM_013942.4,NM_181457.3,NM_181458.3, NM_181459.3,NM_181460.3,NM_181461.3, | |
| Description | paired box homeotic gene 3paired box protein Pax-3paired domain gene 3paired domain gene HuP2 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 606597 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000135903 | ||
| HPRD : 09421 | ||
| Vega : OTTHUMG00000133157 | ||
| Protein | UniProt: P23760 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PAX3 | |
| BioGPS: 5077 | ||
| Pathway | NCI Pathway Interaction Database: PAX3 | |
| KEGG: PAX3 | ||
| REACTOME: PAX3 | ||
| Pathway Commons: PAX3 | ||
| Context | iHOP: PAX3 | |
| ligand binding site mutation search in PubMed: PAX3 | ||
| UCL Cancer Institute: PAX3 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0045893 | positive regulation of transcription, DNA-templated | 11863357 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 11863357 |
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| Ligand binding site mutations for PAX3 |
| 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 | N269 | N269S | COAD | 1 | R271 | R271H | COAD | 1 | R262 | R262Q | COAD | 1 | Y243 | D245E | GBM | 1 | R271,N269 | R270H | LAML | 1 | Y243 | D245Y | LUAD | 1 | R271,N269 | R270S | LUAD | 1 | R273 | W274L | LUSC | 1 | R220 | R220H | 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 PAX3 |
| 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 | N269 | N269S | 0.092970266 | R273 | W274L | 0.071656318 | R262 | R262Q | -1.4326718 | R271 | R270S | -1.2462788 | N269 | R270S | -1.2462788 | R271 | R270H | -1.151034 | N269 | R270H | -1.151034 | R271 | R271H | -1.1415456 | R220 | R220H | -0.98976221 | Y243 | D245Y | -0.34817167 | Y243 | D245E | -0.32234723 |
| (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 PAX3 from PDB |
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| Differential gene expression and gene-gene network for PAX3 |
| 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 PAX3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0206655 | Rhabdomyosarcoma, Alveolar | 97 | Biomarker, GeneticVariation |
| umls:C3266898 | Waardenburg Syndrome | 44 | Biomarker, GeneticVariation |
| umls:C1847800 | Waardenburg Syndrome Type 1 | 33 | Biomarker, GeneticVariation |
| umls:C0080178 | Spinal Dysraphism | 10 | Biomarker, GeneticVariation |
| umls:C1261473 | Sarcoma | 8 | Biomarker |
| umls:C0079661 | Klein-Waardenburg syndrome | 4 | Biomarker, GeneticVariation |
| umls:C1852510 | Craniofacial deafness hand syndrome | 3 | Biomarker, GeneticVariation |
| umls:C0027794 | Neural Tube Defects | 3 | AlteredExpression, Biomarker, Therapeutic |
| umls:C0376634 | Craniofacial Abnormalities | 1 | Biomarker |
| umls:C0011053 | Deafness | 1 | Biomarker |
| umls:C0018566 | Hand Deformities, Congenital | 1 | Biomarker |
| umls:C0497552 | Nervous System Malformations | 1 | Biomarker |
| umls:C1710096 | Sinonasal undifferentiated carcinoma | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PAX3 |
| 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 PAX3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of PAX3 |
| Multiple alignments for P23760 in multiple species |
| LBS | AA sequence | # species | Species | F226 | RSRTTFTAEQL | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | N269 | QVWFSNRRARW | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | R217 | DLPLKRKQRRS | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | R220 | LKRKQRRSRTT | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | R221 | KRKQRRSRTTF | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | R223 | KQRRSRTTFTA | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | R262 | KLTEARVQVWF | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | R271 | WFSNRRARWRK | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | R273 | SNRRARWRKQA | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | S222 | RKQRRSRTTFT | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | S268 | VQVWFSNRRAR | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | T224 | QRRSRTTFTAE | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | V265 | EARVQVWFSNR | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | W266 | ARVQVWFSNRR | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | Y243 | FERTHYPDIYT | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus |
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