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mutLBSgeneDB |
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| Gene summary for DDC |
 Gene summary |
| Basic gene Info. | Gene symbol | DDC |
| Gene name | dopa decarboxylase (aromatic L-amino acid decarboxylase) | |
| Synonyms | AADC | |
| Cytomap | UCSC genome browser: 7p12.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000790.3, NM_001082971.1,NM_001242886.1,NM_001242887.1,NM_001242888.1, NM_001242889.1,NM_001242890.1, | |
| Description | aromatic-L-amino-acid decarboxylase | |
| Modification date | 20141211 | |
| dbXrefs | MIM : 107930 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000132437 | ||
| HPRD : 00145 | ||
| Vega : OTTHUMG00000023353 | ||
| Protein | UniProt: P20711 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DDC | |
| BioGPS: 1644 | ||
| Pathway | NCI Pathway Interaction Database: DDC | |
| KEGG: DDC | ||
| REACTOME: DDC | ||
| Pathway Commons: DDC | ||
| Context | iHOP: DDC | |
| ligand binding site mutation search in PubMed: DDC | ||
| UCL Cancer Institute: DDC | ||
| 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 |
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| Ligand binding site mutations for DDC |
| 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 | H192 | A191T | KIRC | 1 | H192 | Q190H | LUAD | 1 | N300,H302 | P301S | SKCM | 1 | D271 | D271N | 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 DDC |
| 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 | N300 | P301S | -1.5182444 | H302 | P301S | -1.5182444 | H192 | A191T | -1.1500208 | H192 | Q190H | -0.89629266 | D271 | D271N | -0.78692276 |
| (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 DDC from PDB |
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| Differential gene expression and gene-gene network for DDC |
| 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 DDC |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0030567 | Parkinson Disease | 7 | Biomarker, Therapeutic |
| umls:C1291564 | Deficiency of aromatic-L-amino-acid decarboxylase | 3 | Biomarker, GeneticVariation |
| umls:C0031511 | Pheochromocytoma | 3 | Biomarker |
| umls:C0004936 | Mental Disorders | 1 | Biomarker |
| umls:C0027746 | Nerve Degeneration | 1 | Biomarker |
| umls:C0242422 | Parkinsonian Disorders | 1 | Therapeutic |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for DDC |
| 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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| 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 |
| Nutraceutical | DB00114 | Pyridoxal Phosphate | Small molecule |  |
| Approved | DB00190 | Carbidopa | Small molecule |  |
| Approved | DB00968 | Methyldopa | Small molecule |  |
| Investigational | DB05307 | CHF-1512 | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of DDC go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PLP | PYRIDOXAL 5'-PHOSPHATE | 3rch | B | H192 D271 N300 | PLP | PYRIDOXAL 5'-PHOSPHATE | 3rbf | A | H192 D271 N300 H302 |
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| Conservation information for LBS of DDC |
| Multiple alignments for P20711 in multiple species |
| LBS | AA sequence | # species | Species | A148 | VIQGSASEATL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A148 | VIQGSASEAVL | 1 | Arabidopsis thaliana | A148 | VIQGTASEAVL | 1 | Oryza sativa subsp. japonica | A148 | VIQGTASESTL | 1 | Drosophila melanogaster | A148 | VIQGTASEATL | 1 | Bos taurus | A273 | LHVDAAYAGSA | 2 | Homo sapiens, Bos taurus | A273 | LHIDAAYAGSA | 2 | Mus musculus, Rattus norvegicus | A273 | FHVDAAYAGSA | 1 | Arabidopsis thaliana | A273 | FHIDAAYAGSA | 1 | Oryza sativa subsp. japonica | A273 | IHVDAAYAGSA | 1 | Drosophila melanogaster | D271 | VWLHIDAAYAG | 2 | Mus musculus, Rattus norvegicus | D271 | IWLHVDAAYAG | 1 | Homo sapiens | D271 | IWFHVDAAYAG | 1 | Arabidopsis thaliana | D271 | MWFHIDAAYAG | 1 | Oryza sativa subsp. japonica | D271 | LWIHVDAAYAG | 1 | Drosophila melanogaster | D271 | LWLHVDAAYAG | 1 | Bos taurus | H192 | TSDQAHSSVER | 2 | Mus musculus, Rattus norvegicus | H192 | SSDQAHSSVER | 1 | Homo sapiens | H192 | SSDQTHSALQK | 1 | Arabidopsis thaliana | H192 | ASDQTHSALQK | 1 | Oryza sativa subsp. japonica | H192 | CSDQAHSSVER | 1 | Drosophila melanogaster | H192 | ASDQAHSSVEK | 1 | Bos taurus | H302 | FNFNPHKWLLV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H302 | FNMNAHKWFLT | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | H302 | FNFNPHKWMLV | 1 | Drosophila melanogaster | K303 | NFNPHKWLLVN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K303 | NMNAHKWFLTN | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | K303 | NFNPHKWMLVN | 1 | Drosophila melanogaster | N300 | DSFNFNPHKWL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N300 | DSFNMNAHKWF | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | N300 | DSFNFNPHKWM | 1 | Drosophila melanogaster | S147 | GVIQGSASEAT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S147 | GVIQGSASEAV | 1 | Arabidopsis thaliana | S147 | GVIQGTASEAV | 1 | Oryza sativa subsp. japonica | S147 | GVIQGTASEST | 1 | Drosophila melanogaster | S147 | GVIQGTASEAT | 1 | Bos taurus | S149 | IQGSASEATLV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S149 | IQGSASEAVLV | 1 | Arabidopsis thaliana | S149 | IQGTASEAVLV | 1 | Oryza sativa subsp. japonica | S149 | IQGTASESTLV | 1 | Drosophila melanogaster | S149 | IQGTASEATLV | 1 | Bos taurus | S194 | DQAHSSVERAG | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus | S194 | DQTHSALQKAC | 2 | Arabidopsis thaliana, Oryza sativa subsp. japonica | S194 | DQAHSSVEKAG | 1 | Bos taurus | T246 | ATLGTTSCCSF | 2 | Mus musculus, Bos taurus | T246 | ATLGTTTCCSF | 1 | Homo sapiens | T246 | ANVGTTSSTAV | 1 | Arabidopsis thaliana | T246 | ATVGTTSSSAV | 1 | Oryza sativa subsp. japonica | T246 | VTLGTTNSCAF | 1 | Drosophila melanogaster | T246 | VTLGTTSCCSF | 1 | Rattus norvegicus |
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