mutLBSgeneDB |
Gene summary for DDC |
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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. |
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GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for DDC |
![]() We represented ligand binding site mutations only. (You can see big image via clicking.) ![]() |
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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 |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() 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) |
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Differential gene expression and gene-gene network for DDC |
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Phenotype information for DDC |
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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 |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for DDC |
![]() 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 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 | ![]() |
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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 |
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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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