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mutLBSgeneDB |
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| Gene summary for GDA |
 Gene summary |
| Basic gene Info. | Gene symbol | GDA |
| Gene name | guanine deaminase | |
| Synonyms | CYPIN|GUANASE|NEDASIN | |
| Cytomap | UCSC genome browser: 9q21.13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001242505.2, NM_001242506.2,NM_001242507.2,NM_004293.4, | |
| Description | GAHcytoplasmic PSD95 interactorguanine aminaseguanine aminohydrolasep51-nedasin | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 139260 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000119125 | ||
| HPRD : 08849 | ||
| Vega : OTTHUMG00000020005 | ||
| Protein | UniProt: Q9Y2T3 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GDA | |
| BioGPS: 9615 | ||
| Pathway | NCI Pathway Interaction Database: GDA | |
| KEGG: GDA | ||
| REACTOME: GDA | ||
| Pathway Commons: GDA | ||
| Context | iHOP: GDA | |
| ligand binding site mutation search in PubMed: GDA | ||
| UCL Cancer Institute: GDA | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| 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 GDA |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D246 | D246E | COAD | 1 | D246 | R245L | LUAD | 1 | H279 | G280S | LUSC | 1 | F214,L216 | S215F | 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 GDA |
| 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 | H279 | G280S | 0.11136704 | D246 | R245L | -0.55053207 | F214 | S215F | -0.45263984 | L216 | S215F | -0.45263984 | D246 | D246E | -0.1885863 |
| (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 GDA from PDB |
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| Differential gene expression and gene-gene network for GDA |
| 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 GDA |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007097 | Carcinoma | 1 | Biomarker |
| umls:C0024667 | Mammary Neoplasms, Animal | 1 | Biomarker |
| umls:C0024668 | Mammary Neoplasms, Experimental | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GDA |
| Gene-centered drug-gene interaction network |
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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 GDA go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | XAN | XANTHINE | 2uz9 | A | F214 H279 | TXC | VALACYCLOVIR | 4aql | A | F214 L216 D246 H279 |
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| Conservation information for LBS of GDA |
| Multiple alignments for Q9Y2T3 in multiple species |
| LBS | AA sequence | # species | Species | A250 | RDEVEAVKNLY | 1 | Homo sapiens | A250 | REEIEAVKSLY | 1 | Mus musculus | A250 | KEEIQWVQDLF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A250 | TSEIELVKELF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D246 | ISENRDEVEAV | 1 | Homo sapiens | D246 | ISENREEIEAV | 1 | Mus musculus | D246 | LSENKEEIQWV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D246 | ISENTSEIELV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D330 | IGLGTDVAGGY | 2 | Homo sapiens, Mus musculus | D330 | VGLGTDVSAGH | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D330 | VGLGTDVSGGY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E243 | QSHISENRDEV | 1 | Homo sapiens | E243 | QSHISENREEI | 1 | Mus musculus | E243 | QTHLSENKEEI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E243 | QTHISENTSEI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F214 | IVTPRFSLSCS | 1 | Homo sapiens | F214 | IVTPRFTLSCT | 1 | Mus musculus | F214 | IVTPRFAPSCS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F214 | IITPRFAPSCT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H240 | LHIQSHISENR | 1 | Homo sapiens | H240 | LYIQSHISENR | 1 | Mus musculus | H240 | IHVQTHLSENK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H240 | LPIQTHISENT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H279 | KTVMAHGCYLS | 2 | Homo sapiens, Mus musculus | H279 | KTVLAHCIHLT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H279 | QTILAHAIHLE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H82 | GLVDTHIHASQ | 1 | Homo sapiens | H82 | GLVDTHIHAPQ | 1 | Mus musculus | H82 | GFVDTHNHVSQ | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H82 | GLIDTHIHAPQ | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H84 | VDTHIHASQYS | 1 | Homo sapiens | H84 | VDTHIHAPQYA | 1 | Mus musculus | H84 | VDTHNHVSQYP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H84 | IDTHIHAPQYP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L100 | IDLPLLEWLTK | 1 | Homo sapiens | L100 | VDLPLLEWLNK | 1 | Mus musculus | L100 | GNSTLLDWLEK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L100 | IDVPLLQWLEK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L103 | PLLEWLTKYTF | 1 | Homo sapiens | L103 | PLLEWLNKYTF | 1 | Mus musculus | L103 | TLLDWLEKYTF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L103 | PLLQWLEKYTF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L216 | TPRFSLSCSET | 1 | Homo sapiens | L216 | TPRFTLSCTET | 1 | Mus musculus | L216 | TPRFAPSCSRE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L216 | TPRFAPSCTED | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L99 | SIDLPLLEWLT | 1 | Homo sapiens | L99 | NVDLPLLEWLN | 1 | Mus musculus | L99 | FGNSTLLDWLE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L99 | GIDVPLLQWLE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q87 | HIHASQYSFAG | 1 | Homo sapiens | Q87 | HIHAPQYAFAG | 1 | Mus musculus | Q87 | HNHVSQYPNVG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q87 | HIHAPQYPNSG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R213 | PIVTPRFSLSC | 1 | Homo sapiens | R213 | PIVTPRFTLSC | 1 | Mus musculus | R213 | PIVTPRFAPSC | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R213 | PIITPRFAPSC | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T107 | WLTKYTFPAEH | 1 | Homo sapiens | T107 | WLNKYTFPTEQ | 1 | Mus musculus | T107 | WLEKYTFPIEA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T107 | WLEKYTFPLES | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | W102 | LPLLEWLTKYT | 1 | Homo sapiens | W102 | LPLLEWLNKYT | 1 | Mus musculus | W102 | STLLDWLEKYT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | W102 | VPLLQWLEKYT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) |
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