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mutLBSgeneDB |
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| Gene summary for CAD |
 Gene summary |
| Basic gene Info. | Gene symbol | CAD |
| Gene name | carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 2p22-p21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004341.3, | |
| Description | CAD proteinCAD trifunctional proteinmultifunctional protein CAD | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 114010 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000084774 | ||
| HPRD : 06437 | ||
| Vega : OTTHUMG00000097070 | ||
| Protein | UniProt: P27708 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CAD | |
| BioGPS: 790 | ||
| Pathway | NCI Pathway Interaction Database: CAD | |
| KEGG: CAD | ||
| REACTOME: CAD | ||
| Pathway Commons: CAD | ||
| Context | iHOP: CAD | |
| ligand binding site mutation search in PubMed: CAD | ||
| UCL Cancer Institute: CAD | ||
| 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 | GO:0006207 | 'de novo' pyrimidine nucleobase biosynthetic process | 24332717 |
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| Ligand binding site mutations for CAD |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F1563 | F1563Y | SKCM | 1 | C1613 | I1612M | STAD | 1 | H1614 | A1616T | STAD | 1 | H1590 | A1591V | UCEC | 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 CAD |
| 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 | H1590 | A1591V | 0.25821139 | C1613 | I1612M | -0.91237035 | H1614 | A1616T | -0.81452314 | F1563 | F1563Y | -0.42306941 |
| (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 CAD from PDB |
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| Differential gene expression and gene-gene network for CAD |
| 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 CAD |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0949116 | Anemia, Hypoplastic, Congenital | 1 | Biomarker |
| umls:C0002895 | Anemia, Sickle Cell | 1 | Biomarker |
| umls:C0005283 | beta-Thalassemia | 1 | Biomarker |
| umls:C0023440 | Leukemia, Erythroblastic, Acute | 1 | Biomarker |
| umls:C0037889 | Spherocytosis, Hereditary | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CAD |
| 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 |
| Approved|nutraceutical | DB00128 | L-Aspartic Acid | Small molecule |  |
| Experimental | DB03459 | Sparfosic acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CAD go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 4c6c | A | C1613 | ZN | ZINC(2+) | 4c6i | A | C1613 | ZN | ZINC(2+) | 4c6m | A | C1613 | ZN | ZINC(2+) | 4by3 | A | C1613 | DOR | (S)-DIHYDROOROTIC ACID | 4c6i | A | F1563 H1590 | NCD | N-CARBAMOYL-L-ASPARTIC ACID | 4c6i | A | F1563 H1590 | FOT | 5-FLUORO-2,6-DIOXO-1,2,3,6-TETRAHYDROPYRIMIDINE-4-CARBOXYLIC ACID | 4c6m | A | H1590 | ZN | ZINC(2+) | 4c6c | A | H1590 H1614 | ZN | ZINC(2+) | 4c6i | A | H1590 H1614 | ZN | ZINC(2+) | 4c6m | A | H1590 H1614 | ZN | ZINC(2+) | 4by3 | A | H1590 H1614 |
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| Conservation information for LBS of CAD |
| Multiple alignments for P27708 in multiple species |
| LBS | AA sequence | # species | Species | A1688 | FASDHAPHTLE | 2 | Homo sapiens, Mus musculus | A1688 | FSVGALPVALA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A1688 | FSIGSIPSRLA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A1688 | FATDHAPHTLA | 1 | Drosophila melanogaster | C1613 | RSVHICHVARK | 2 | Homo sapiens, Drosophila melanogaster | C1613 | RSIHITGVSNK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | C1613 | RRIHITNVSSK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C1613 | RPVHICHVARK | 1 | Mus musculus | D1686 | DCFASDHAPHT | 2 | Homo sapiens, Mus musculus | D1686 | DAFSVGALPVA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D1686 | DCFSIGSIPSR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D1686 | DVFATDHAPHT | 1 | Drosophila melanogaster | E1637 | LPVTCEVAPHH | 2 | Homo sapiens, Mus musculus | E1637 | PRVTCDVNIYS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E1637 | LPVTFDVSVYS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E1637 | VKVTCEVCPHH | 1 | Drosophila melanogaster | F1563 | YLNETFSELRL | 2 | Homo sapiens, Mus musculus | F1563 | PLREL-----K | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F1563 | HFEKD--DSGI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F1563 | YLNDTFGTLKL | 1 | Drosophila melanogaster | G1703 | SRPPPGFPGLE | 1 | Homo sapiens | G1703 | NKVDVGM-GIK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G1703 | NTAFTGF-GVR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G1703 | ERPPPGFPGVE | 1 | Drosophila melanogaster | G1703 | PKPPPGFPGLE | 1 | Mus musculus | H1471 | GLIDVHVHLRE | 2 | Homo sapiens, Mus musculus | H1471 | GLINIATYV-- | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H1471 | GLINISAFL-- | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H1471 | GFIDVHVHLRE | 1 | Drosophila melanogaster | H1473 | IDVHVHLREPG | 3 | Homo sapiens, Drosophila melanogaster, Mus musculus | H1473 | INIATYV--PN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H1473 | INISAFL--PE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H1590 | LPIVAHAEQQT | 1 | Homo sapiens | H1590 | KQVIAEAKTAD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H1590 | QTVMTDAKSTT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H1590 | SPIVCHAERQS | 1 | Drosophila melanogaster | H1590 | LPIVAHAERQS | 1 | Mus musculus | H1614 | SVHICHVARKE | 2 | Homo sapiens, Drosophila melanogaster | H1614 | SIHITGVSNKE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H1614 | RIHITNVSSKD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H1614 | PVHICHVARKE | 1 | Mus musculus | H1690 | SDHAPHTLEEK | 2 | Homo sapiens, Mus musculus | H1690 | VGALPVALANV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H1690 | IGSIPSRLAKF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H1690 | TDHAPHTLAEK | 1 | Drosophila melanogaster | K1556 | SAAGLKLYLNE | 2 | Homo sapiens, Mus musculus | K1556 | KVTALFLPLRE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K1556 | ESGCLFFHFEK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K1556 | HACGLKMYLND | 1 | Drosophila melanogaster | N1505 | VCAMPNTR--P | 2 | Homo sapiens, Mus musculus | N1505 | CQLMPRSISGP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N1505 | ARFLPFSTS-S | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N1505 | VCAMPNTN--P | 1 | Drosophila melanogaster | P1702 | GSRPPPGFPGL | 1 | Homo sapiens | P1702 | GNKVDVGM-GI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P1702 | GNTAFTGF-GV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | P1702 | SERPPPGFPGV | 1 | Drosophila melanogaster | P1702 | GPKPPPGFPGL | 1 | Mus musculus | R1475 | VHVHLREPGGT | 2 | Homo sapiens, Mus musculus | R1475 | IATYV--PNAS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R1475 | ISAFL--PEFT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R1475 | VHVHLREPGAT | 1 | Drosophila melanogaster | R1661 | GKGEVRPELGS | 2 | Homo sapiens, Mus musculus | R1661 | EAV----FLPT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R1661 | GAT----FLPT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R1661 | GMSEVRPLLCS | 1 | Drosophila melanogaster | T1562 | LYLNETFSELR | 2 | Homo sapiens, Mus musculus | T1562 | LPLREL----- | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T1562 | FHFEKD--DSG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T1562 | MYLNDTFGTLK | 1 | Drosophila melanogaster | V1660 | PGKGEVRPELG | 2 | Homo sapiens, Mus musculus | V1660 | PEAV----FLP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V1660 | PGAT----FLP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V1660 | HGMSEVRPLLC | 1 | Drosophila melanogaster |
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