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mutLBSgeneDB |
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| Gene summary for CSAD |
 Gene summary |
| Basic gene Info. | Gene symbol | CSAD |
| Gene name | cysteine sulfinic acid decarboxylase | |
| Synonyms | CSD|PCAP | |
| Cytomap | UCSC genome browser: 12q13.11-q14.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001244705.1, NM_001244706.1,NM_015989.4, | |
| Description | P-selectin cytoplasmic tail-associated proteincysteine sulfinic acid decarboxylase-related proteincysteine-sulfinate decarboxylasesulfinoalanine decarboxylase | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000139631 | ||
| HPRD : 16763 | ||
| Vega : OTTHUMG00000048076 | ||
| Protein | UniProt: Q9Y600 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CSAD | |
| BioGPS: 51380 | ||
| Pathway | NCI Pathway Interaction Database: CSAD | |
| KEGG: CSAD | ||
| REACTOME: CSAD | ||
| Pathway Commons: CSAD | ||
| Context | iHOP: CSAD | |
| ligand binding site mutation search in PubMed: CSAD | ||
| UCL Cancer Institute: CSAD | ||
| 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 CSAD |
| 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 | S153 | S155C | BLCA | 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 CSAD |
| 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 | S153 | S155C | -0.7390718 |
| (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 CSAD from PDB |
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| Differential gene expression and gene-gene network for CSAD |
| 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 CSAD |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0023893 | Liver Cirrhosis, 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 CSAD |
| 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|nutraceutical | DB00151 | L-Cysteine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CSAD go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PLP | PYRIDOXAL 5'-PHOSPHATE | 2jis | A | S153 | PLP | PYRIDOXAL 5'-PHOSPHATE | 2jis | B | S153 |
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| Conservation information for LBS of CSAD |
| Multiple alignments for Q9Y600 in multiple species |
| LBS | AA sequence | # species | Species | A275 | LHVDAAWGGSV | 2 | Homo sapiens, Rattus norvegicus | A275 | FHVDAAWGGSV | 1 | Mus musculus | C190 | FTSKECHYSIT | 2 | Mus musculus, Rattus norvegicus | C190 | FTSKECHYSIQ | 1 | Homo sapiens | C356 | DKVVQCGRRVD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D273 | LWLHVDAAWGG | 2 | Homo sapiens, Rattus norvegicus | D273 | LWFHVDAAWGG | 1 | Mus musculus | G151 | GVFCPGGSISN | 2 | Mus musculus, Rattus norvegicus | G151 | GIFCPGGSISN | 1 | Homo sapiens | G152 | VFCPGGSISNM | 2 | Mus musculus, Rattus norvegicus | G152 | IFCPGGSISNM | 1 | Homo sapiens | G246 | VSATSGTTVLG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G357 | KVVQCGRRVDC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H191 | TSKECHYSITK | 2 | Mus musculus, Rattus norvegicus | H191 | TSKECHYSIQK | 1 | Homo sapiens | H304 | VAWNPHKLLAA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K305 | AWNPHKLLAAG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L93 | RFFNQLFSGLD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N302 | DSVAWNPHKLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S153 | FCPGGSISNMY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T244 | FLVSATSGTTV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T248 | ATSGTTVLGAF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W276 | HVDAAWGGSVL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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