TissGeneSummary for DDC |
Gene summary |
Basic gene information | 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: 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 TissGDB* | C | |
Included tissue-specific gene expression resources | TiGER,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Kidney | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICH | |
Reference showing the relevant tissue of DDC | ||
Description by TissGene annotations |
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO term | PubMed ID |
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TissGeneExp for DDC |
Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
LUSC | -2.631237799 | 0.303662201 | -2.9349 | 1.12E-14 | 6.62E-14 |
KICH | -3.59139121 | 4.85528479 | -8.446676 | 1.32E-15 | 3.06E-14 |
KIRP | 3.68600154 | 6.406098415 | -2.720096875 | 0.000316 | 0.000971841 |
LIHC | 3.71097879 | 5.60132479 | -1.890346 | 0.000144 | 0.000478778 |
LUAD | -0.997077555 | 0.574317272 | -1.571394828 | 5.59E-05 | 0.000145795 |
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TissGene-miRNA for DDC |
Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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TissGeneMut for DDC |
TissGeneSNV for DDC |
nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.G140E | SKCM | 2 |
p.G203A | BLCA | 2 |
p.R27H | STAD | 1 |
p.V184A | GBM | 1 |
p.E399* | HNSC | 1 |
p.A294V | UCEC | 1 |
p.R160Q | SKCM | 1 |
p.R226I | COAD | 1 |
p.H337N | LUAD | 1 |
p.R160Q | KICH | 1 |
p.R447H | SARC | 1 |
p.D59N | UCEC | 1 |
p.H434Y | SKCM | 1 |
p.S452F | BLCA | 1 |
p.L153M | BLCA | 1 |
p.E307* | UCEC | 1 |
p.Q190H | LUAD | 1 |
p.R319I | ESCA | 1 |
p.H434L | LUSC | 1 |
p.M125L | OV | 1 |
p.C311F | LUAD | 1 |
p.V382A | STAD | 1 |
p.Y79F | LUAD | 1 |
p.G10E | SKCM | 1 |
p.P31T | HNSC | 1 |
p.G203* | PRAD | 1 |
p.A131T | SKCM | 1 |
p.R453C | UCEC | 1 |
p.R218G | PAAD | 1 |
p.P43L | SKCM | 1 |
p.V154A | LUAD | 1 |
p.E127* | LUSC | 1 |
p.E127A | LUSC | 1 |
p.G370R | SKCM | 1 |
p.D59E | OV | 1 |
p.A231V | BLCA | 1 |
p.L325M | UCEC | 1 |
p.R358C | SKCM | 1 |
p.S220C | BLCA | 1 |
p.R356I | UCEC | 1 |
p.G123R | SKCM | 1 |
p.I378M | BLCA | 1 |
p.L413P | UCEC | 1 |
p.K263M | UCEC | 1 |
p.S187L | CESC | 1 |
p.E12D | KIRC | 1 |
p.P81S | STAD | 1 |
p.D473N | SKCM | 1 |
p.R393C | GBM | 1 |
p.G96R | SARC | 1 |
p.R379S | BLCA | 1 |
p.E127K | HNSC | 1 |
p.Y37H | UCEC | 1 |
p.T69M | GBM | 1 |
p.R453C | SKCM | 1 |
p.M93V | KIRC | 1 |
p.H341Y | SKCM | 1 |
p.R254L | READ | 1 |
p.E127K | SKCM | 1 |
p.N19S | SKCM | 1 |
p.D271Y | STAD | 1 |
p.D212E | LIHC | 1 |
p.W105C | STAD | 1 |
p.D473E | LUSC | 1 |
p.E115K | SKCM | 1 |
p.R476Q | SKCM | 1 |
p.I405T | UCEC | 1 |
p.P301S | SKCM | 1 |
p.G373* | UCEC | 1 |
p.R347W | ESCA | 1 |
p.D339N | UCEC | 1 |
p.A471V | THCA | 1 |
p.L133F | HNSC | 1 |
p.R379S | LUSC | 1 |
p.R447H | UCEC | 1 |
p.A241S | LUSC | 1 |
p.D32E | LUAD | 1 |
p.T52M | LGG | 1 |
p.R166W | ESCA | 1 |
p.P236S | SKCM | 1 |
p.V404I | HNSC | 1 |
p.G138* | CESC | 1 |
p.E469K | SKCM | 1 |
p.T454M | DLBC | 1 |
p.E54* | HNSC | 1 |
p.L122R | LUAD | 1 |
p.P40L | HNSC | 1 |
p.A294V | ESCA | 1 |
p.V143M | BRCA | 1 |
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TissGeneCNV for DDC |
Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for DDC |
Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
Chimerdb3.0 | FusionScan | LUAD | TCGA-55-8094-01A | GRB10-DDC | In-Frame | chr7:50737418 | chr7:50537869 |
Chimerdb3.0 | TopHat-Fusion | LUAD | TCGA-55-8094-01A | GRB10-DDC | In-Frame | chr7:50737418 | chr7:50537868 |
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TissGeneNet for DDC |
Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for DDC |
Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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TissGeneClin for DDC |
TissGeneDrug for DDC |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
DB00190 | Carbidopa | Inhibitor | Small molecule | Approved |
DB00968 | Methyldopa | Small molecule | Approved |
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TissGeneDisease for DDC |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0030567 | Parkinson Disease | 7 | BeFree,CTD_human,RGD |
umls:C1263846 | Attention deficit hyperactivity disorder | 7 | BeFree,GAD,RGD |
umls:C0027819 | Neuroblastoma | 5 | BeFree,LHGDN |
umls:C0036341 | Schizophrenia | 5 | BeFree,GAD |
umls:C0005586 | Bipolar Disorder | 4 | BeFree,GAD |
umls:C0019187 | Hepatitis, Alcoholic | 4 | BeFree |
umls:C0028043 | Nicotine Dependence | 4 | BeFree |
umls:C0149925 | Small cell carcinoma of lung | 4 | BeFree |
umls:C0376358 | Malignant neoplasm of prostate | 4 | BeFree |
umls:C0600139 | Prostate carcinoma | 4 | BeFree |
umls:C0700095 | Central neuroblastoma | 4 | BeFree |
umls:C0001418 | Adenocarcinoma | 3 | BeFree |
umls:C0004352 | Autistic Disorder | 3 | BeFree,GAD |
umls:C0031511 | Pheochromocytoma | 3 | BeFree,CTD_human |
umls:C1291564 | Deficiency of aromatic-L-amino-acid decarboxylase | 3 | BeFree,CLINVAR,MGD,ORPHANET,UNIPROT |
umls:C1839839 | MAJOR AFFECTIVE DISORDER 2 | 3 | BeFree,GAD |
umls:C0007095 | Carcinoid Tumor | 2 | BeFree |
umls:C0024530 | Malaria | 2 | BeFree,GAD |
umls:C0024623 | Malignant neoplasm of stomach | 2 | BeFree |
umls:C0154723 | Migraine with Aura | 2 | BeFree |
umls:C0338480 | Common Migraine | 2 | BeFree |
umls:C0699791 | Stomach Carcinoma | 2 | BeFree |
umls:C1319315 | Adenocarcinoma of large intestine | 2 | BeFree |
umls:C1852197 | MAJOR AFFECTIVE DISORDER 1 | 2 | BeFree,GAD |
umls:C1970943 | MAJOR AFFECTIVE DISORDER 4 | 2 | BeFree,GAD |
umls:C1970944 | MAJOR AFFECTIVE DISORDER 5 | 2 | BeFree,GAD |
umls:C1970945 | MAJOR AFFECTIVE DISORDER 6 | 2 | BeFree,GAD |
umls:C2700438 | MAJOR AFFECTIVE DISORDER 7 | 2 | BeFree,GAD |
umls:C2700439 | MAJOR AFFECTIVE DISORDER 8 | 2 | BeFree,GAD |
umls:C2700440 | MAJOR AFFECTIVE DISORDER 9 | 2 | BeFree,GAD |
umls:C0002793 | Anaplasia | 1 | BeFree |
umls:C0003469 | Anxiety Disorders | 1 | BeFree |
umls:C0003944 | As If Personality | 1 | GAD |
umls:C0004936 | Mental disorders | 1 | CTD_human |
umls:C0006012 | Borderline Personality Disorder | 1 | BeFree |
umls:C0006111 | Brain Diseases | 1 | GAD |
umls:C0007137 | Squamous cell carcinoma | 1 | BeFree |
umls:C0008313 | Cholangitis, Sclerosing | 1 | BeFree |
umls:C0013386 | Dyskinesia, Drug-Induced | 1 | RGD |
umls:C0020541 | Hypertension, Portal | 1 | RGD |
umls:C0022661 | Kidney Failure, Chronic | 1 | RGD |
umls:C0023452 | Leukemia, Lymphocytic, Acute, L1 | 1 | GWASCAT |
umls:C0023893 | Liver Cirrhosis, Experimental | 1 | RGD |
umls:C0023895 | Liver diseases | 1 | BeFree |
umls:C0027627 | Neoplasm Metastasis | 1 | BeFree |
umls:C0027726 | Nephrotic Syndrome | 1 | RGD |
umls:C0027746 | Nerve Degeneration | 1 | CTD_human |
umls:C0029925 | Ovarian Carcinoma | 1 | BeFree |
umls:C0033578 | Prostatic Neoplasms | 1 | LHGDN |
umls:C0033975 | Psychotic Disorders | 1 | BeFree |
umls:C0036349 | Paranoid Schizophrenia | 1 | BeFree,LHGDN |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
umls:C0040411 | Tongue Neoplasms | 1 | BeFree |
umls:C0043094 | Weight Gain | 1 | GAD |
umls:C0085633 | Mood swings | 1 | BeFree |
umls:C0149931 | Migraine Disorders | 1 | GAD |
umls:C0175693 | Russell-Silver syndrome | 1 | BeFree |
umls:C0242422 | Parkinsonian Disorders | 1 | CTD_human |
umls:C0242596 | Neoplasm, Residual | 1 | LHGDN |
umls:C0278694 | Disseminated neuroblastoma | 1 | BeFree |
umls:C0393610 | Dystonia, Diurnal | 1 | BeFree |
umls:C0566602 | Primary sclerosing cholangitis | 1 | BeFree |
umls:C0677886 | Epithelial ovarian cancer | 1 | BeFree |
umls:C0936215 | Vitamin B 6 Deficiency | 1 | BeFree |
umls:C1135161 | Stage 4S neuroblastoma | 1 | BeFree |
umls:C1140680 | Malignant neoplasm of ovary | 1 | BeFree |
umls:C1168401 | Squamous cell carcinoma of the head and neck | 1 | BeFree |
umls:C1851920 | Dopa-Responsive Dystonia | 1 | BeFree |
umls:C2239176 | Liver carcinoma | 1 | BeFree |
umls:C2911647 | Weight Gain Adverse Event | 1 | GAD |
umls:C3888018 | Congenital Hyperinsulinism | 1 | LHGDN |
umls:C0342686 | Aromatic amino acid decarboxylase deficiency | 0 | CTD_human |