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mutLBSgeneDB |
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| Gene summary for AQP5 |
 Gene summary |
| Basic gene Info. | Gene symbol | AQP5 |
| Gene name | aquaporin 5 | |
| Synonyms | AQP-5|PPKB | |
| Cytomap | UCSC genome browser: 12q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001651.3, | |
| Description | aquaporin-5 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600442 | |
| HGNC : HGNC | ||
| HPRD : 02706 | ||
| Protein | UniProt: P55064 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AQP5 | |
| BioGPS: 362 | ||
| Pathway | NCI Pathway Interaction Database: AQP5 | |
| KEGG: AQP5 | ||
| REACTOME: AQP5 | ||
| Pathway Commons: AQP5 | ||
| Context | iHOP: AQP5 | |
| ligand binding site mutation search in PubMed: AQP5 | ||
| UCL Cancer Institute: AQP5 | ||
| 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:0015670 | carbon dioxide transport | 19273840 |
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| Ligand binding site mutations for AQP5 |
| 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 | L163 | L163P | LAML | 1 | L47 | A46V | STAD | 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 AQP5 |
| 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 | L163 | L163P | -1.585101 | L47 | A46V | -0.48220451 |
| (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 AQP5 from PDB |
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| Differential gene expression and gene-gene network for AQP5 |
| 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 AQP5 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0019284 | Hernia, Diaphragmatic | 2 | Biomarker |
| umls:C1838359 | Diffuse palmoplantar keratoderma, Bothnian type | 1 | GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for AQP5 |
| 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 AQP5 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PS6 | O-[(S)-{[(2S)-2-(HEXANOYLOXY)-3-(TETRADECANOYLOXY)PROPYL]OXY}(HYDROXY)PHOSPHORYL]-D-SERINE | 5c5x | A | L163 | PS6 | O-[(S)-{[(2S)-2-(HEXANOYLOXY)-3-(TETRADECANOYLOXY)PROPYL]OXY}(HYDROXY)PHOSPHORYL]-D-SERINE | 5c5x | B | L163 | PS6 | O-[(S)-{[(2S)-2-(HEXANOYLOXY)-3-(TETRADECANOYLOXY)PROPYL]OXY}(HYDROXY)PHOSPHORYL]-D-SERINE | 5c5x | C | L163 | PS6 | O-[(S)-{[(2S)-2-(HEXANOYLOXY)-3-(TETRADECANOYLOXY)PROPYL]OXY}(HYDROXY)PHOSPHORYL]-D-SERINE | 5c5x | D | L163 | PS6 | O-[(S)-{[(2S)-2-(HEXANOYLOXY)-3-(TETRADECANOYLOXY)PROPYL]OXY}(HYDROXY)PHOSPHORYL]-D-SERINE | 5c5x | E | L163 | PS6 | O-[(S)-{[(2S)-2-(HEXANOYLOXY)-3-(TETRADECANOYLOXY)PROPYL]OXY}(HYDROXY)PHOSPHORYL]-D-SERINE | 5c5x | F | L163 | PS6 | O-[(S)-{[(2S)-2-(HEXANOYLOXY)-3-(TETRADECANOYLOXY)PROPYL]OXY}(HYDROXY)PHOSPHORYL]-D-SERINE | 5c5x | G | L163 | PS6 | O-[(S)-{[(2S)-2-(HEXANOYLOXY)-3-(TETRADECANOYLOXY)PROPYL]OXY}(HYDROXY)PHOSPHORYL]-D-SERINE | 5c5x | H | L163 | PS6 | O-[(S)-{[(2S)-2-(HEXANOYLOXY)-3-(TETRADECANOYLOXY)PROPYL]OXY}(HYDROXY)PHOSPHORYL]-D-SERINE | 5dye | B | L163 | PS6 | O-[(S)-{[(2S)-2-(HEXANOYLOXY)-3-(TETRADECANOYLOXY)PROPYL]OXY}(HYDROXY)PHOSPHORYL]-D-SERINE | 5dye | C | L163 | PS6 | O-[(S)-{[(2S)-2-(HEXANOYLOXY)-3-(TETRADECANOYLOXY)PROPYL]OXY}(HYDROXY)PHOSPHORYL]-D-SERINE | 5dye | D | L163 | PS6 | O-[(S)-{[(2S)-2-(HEXANOYLOXY)-3-(TETRADECANOYLOXY)PROPYL]OXY}(HYDROXY)PHOSPHORYL]-D-SERINE | 3d9s | B | L47 | PS6 | O-[(S)-{[(2S)-2-(HEXANOYLOXY)-3-(TETRADECANOYLOXY)PROPYL]OXY}(HYDROXY)PHOSPHORYL]-D-SERINE | 3d9s | A | L47 L163 | PS6 | O-[(S)-{[(2S)-2-(HEXANOYLOXY)-3-(TETRADECANOYLOXY)PROPYL]OXY}(HYDROXY)PHOSPHORYL]-D-SERINE | 3d9s | C | L47 L163 | PS6 | O-[(S)-{[(2S)-2-(HEXANOYLOXY)-3-(TETRADECANOYLOXY)PROPYL]OXY}(HYDROXY)PHOSPHORYL]-D-SERINE | 3d9s | D | L47 L163 |
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| Conservation information for LBS of AQP5 |
| Multiple alignments for P55064 in multiple species |
| LBS | AA sequence | # species | Species | G159 | RTSPVGSPALS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L163 | VGSPALSIGLS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L167 | ALSIGLSVTLG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L47 | ILQISIAFGLA | 2 | Mus musculus, Rattus norvegicus | L47 | ILQIALAFGLA | 1 | Homo sapiens | P157 | SRRTSPVGSPA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S156 | DSRRTSPVGSP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S160 | TSPVGSPALSI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V158 | RRTSPVGSPAL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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