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mutLBSgeneDB |
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| Gene summary for PAX6 |
 Gene summary |
| Basic gene Info. | Gene symbol | PAX6 |
| Gene name | paired box 6 | |
| Synonyms | AN|AN2|D11S812E|FVH1|MGDA|WAGR | |
| Cytomap | UCSC genome browser: 11p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000280.4, NM_001127612.1,NM_001258462.1,NM_001258463.1,NM_001258464.1, NM_001258465.1,NM_001604.5, | |
| Description | aniridia type II proteinoculorhombinpaired box homeotic gene-6paired box protein Pax-6 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 607108 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000007372 | ||
| HPRD : 06167 | ||
| Vega : OTTHUMG00000041447 | ||
| Protein | UniProt: P26367 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PAX6 | |
| BioGPS: 5080 | ||
| Pathway | NCI Pathway Interaction Database: PAX6 | |
| KEGG: PAX6 | ||
| REACTOME: PAX6 | ||
| Pathway Commons: PAX6 | ||
| Context | iHOP: PAX6 | |
| ligand binding site mutation search in PubMed: PAX6 | ||
| UCL Cancer Institute: PAX6 | ||
| Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. | |
| References showing study about ligand binding site mutation for PAX6. | 1. Schinner, S., Dellas, C., Schröder, M., Heinlein, C. A., Chang, C., Fischer, J., & Knepel, W. (2002). Repression of glucagon gene transcription by peroxisome proliferator-activated receptor γ through inhibition of Pax6 transcriptional activity. Journal of Biological Chemistry, 277(3), 1941-1948. 11707457 | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for PAX6 |
| 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 | G72 | G72S | COAD | 1 | R125 | R125I | COAD | 1 | R19 | R19L | GBM | 1 | S119 | S119R | HNSC | 1 | G73 | G73V | LUAD | 1 | G18 | G18V | LUAD | 1 | W100 | E101K | SKCM | 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 PAX6 |
| 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 | G72 | G72S | 0.071429947 | R19 | R19L | -0.66450178 | S119 | S119R | -0.57214472 | G73 | G73V | -0.52020059 | W100 | E101K | -0.50936339 | R125 | R125I | -0.1331709 | G18 | G18V | -0.039187402 |
| (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 PAX6 from PDB |
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| Differential gene expression and gene-gene network for PAX6 |
| 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 PAX6 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0003076 | Aniridia | 140 | Biomarker, GeneticVariation |
| umls:C0344559 | Peters anomaly | 10 | Biomarker, GeneticVariation |
| umls:C0004352 | Autistic Disorder | 5 | Biomarker, GeneticVariation |
| umls:C0376634 | Craniofacial Abnormalities | 5 | Biomarker |
| umls:C0040427 | Tooth Abnormalities | 4 | Biomarker |
| umls:C0011860 | Diabetes Mellitus, Type 2 | 3 | Biomarker, GeneticVariation |
| umls:C0009363 | Coloboma | 2 | Biomarker, GeneticVariation |
| umls:C0431401 | Aniridia cerebellar ataxia mental deficiency | 1 | Biomarker, GeneticVariation |
| umls:C1271219 | Ectopia pupillae | 1 | Biomarker |
| umls:C3714873 | AXENFELD-RIEGER SYNDROME, TYPE 1 | 1 | Biomarker |
| umls:C0011853 | Diabetes Mellitus, Experimental | 1 | Biomarker |
| umls:C3714756 | Intellectual Disability | 1 | Biomarker |
| umls:C0025202 | Melanoma | 1 | Biomarker |
| umls:C0497552 | Nervous System Malformations | 1 | Biomarker |
| umls:C0029132 | Optic Nerve Diseases | 1 | Biomarker |
| umls:C0038356 | Stomach Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 18520 | S119R | Pathogenic | Germline | GeneReviews:NBK1360 MedGen:C0003076 OMIM:106210 Orphanet:ORPHA250923 SNOMED CT:69278003 |
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| Pharmacological information for PAX6 |
| 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 PAX6 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 6pax | A | R125 | NUC | Nucleic Acids | 6pax | A | S119 |
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| Conservation information for LBS of PAX6 |
| Multiple alignments for P26367 in multiple species |
| LBS | AA sequence | # species | Species | A70 | SIRPRAIGGSK | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | A79 | SKPRVATPEVV | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | A99 | CPSIFAWEIRD | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | C40 | SGARPCDISRI | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | C52 | QVSNGCVSKIL | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | F15 | QLGGVFVNGRP | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | F98 | ECPSIFAWEIR | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | G18 | GVFVNGRPLPD | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | G51 | LQVSNGCVSKI | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | G72 | RPRAIGGSKPR | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | G73 | PRAIGGSKPRV | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | I71 | IRPRAIGGSKP | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | K55 | NGCVSKILGRY | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | L21 | VNGRPLPDSTR | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | N124 | SVSSINRVLRN | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | N17 | GGVFVNGRPLP | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | N9 | SHSGVNQLGGV | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | P20 | FVNGRPLPDST | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | P39 | HSGARPCDISR | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | P68 | TGSIRPRAIGG | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | P76 | IGGSKPRVATP | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | Q10 | HSGVNQLGGVF | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | R125 | VSSINRVLRNL | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | R128 | INRVLRNLASE | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | R19 | VFVNGRPLPDS | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | R38 | AHSGARPCDIS | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | R69 | GSIRPRAIGGS | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | R77 | GGSKPRVATPE | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | S119 | NDNIPSVSSIN | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | S121 | NIPSVSSINRV | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | S122 | IPSVSSINRVL | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | S4 | --MQNSHSGVN | 4 | Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus | S4 | SMMQNSHSGVN | 1 | Danio rerio | S49 | RILQVSNGCVS | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | S74 | RAIGGSKPRVA | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | V48 | SRILQVSNGCV | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | V78 | GSKPRVATPEV | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus | W100 | PSIFAWEIRDR | 5 | Homo sapiens, Danio rerio, Rattus norvegicus, Mus musculus, Bos taurus |
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