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mutLBSgeneDB |
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| Gene summary for CAPNS1 |
 Gene summary |
| Basic gene Info. | Gene symbol | CAPNS1 |
| Gene name | calpain, small subunit 1 | |
| Synonyms | CALPAIN4|CANP|CANPS|CAPN4|CDPS|CSS1 | |
| Cytomap | UCSC genome browser: 19q13.12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001003962.2, NM_001302632.1,NM_001302633.1,NM_001749.3, | |
| Description | CANP small subunitcalcium-activated neutral proteinase small subunitcalcium-dependent protease small subunit 1calcium-dependent protease, small subunitcalpain 4, small subunit (30K)calpain regulatory subunitcalpain small subunit 1calpain, small pol | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 114170 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000126247 | ||
| HPRD : 00240 | ||
| Vega : OTTHUMG00000160811 | ||
| Protein | UniProt: P04632 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CAPNS1 | |
| BioGPS: 826 | ||
| Pathway | NCI Pathway Interaction Database: CAPNS1 | |
| KEGG: CAPNS1 | ||
| REACTOME: CAPNS1 | ||
| Pathway Commons: CAPNS1 | ||
| Context | iHOP: CAPNS1 | |
| ligand binding site mutation search in PubMed: CAPNS1 | ||
| UCL Cancer Institute: CAPNS1 | ||
| 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 CAPNS1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Q100 | V98I | COAD | 1 | Q100 | V98F | GBM | 1 | Q100 | F101L | HNSC | 1 | E163 | E163A | PRAD | 1 | Q175 | A176D | UCEC | 1 | Q100,L104 | R102Q | 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 CAPNS1 |
| 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 | E163 | E163A | -1.3268313 | Q100 | V98F | -1.0988036 | Q100 | V98I | -0.89419123 | Q175 | A176D | -0.51004284 | Q100 | F101L | -0.45592776 | Q100 | R102Q | -0.32745332 | L104 | R102Q | -0.32745332 |
| (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 CAPNS1 from PDB |
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| Differential gene expression and gene-gene network for CAPNS1 |
| 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 CAPNS1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0033578 | Prostatic Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CAPNS1 |
| 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 |
| Experimental | DB02570 | PD150606 | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CAPNS1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 4phj | A | E163 | CA | CALCIUM(2+) | 4phj | B | E163 | CA | CALCIUM(2+) | 4phk | A | E163 | CA | CALCIUM(2+) | 4phk | B | E163 | CA | CALCIUM(2+) | 4phm | A | E163 | CA | CALCIUM(2+) | 4phm | B | E163 | CA | CALCIUM(2+) | 4wq2 | A | E163 | CA | CALCIUM(2+) | 4wq2 | B | E163 | CA | CALCIUM(2+) | 4wq3 | A | E163 | CA | CALCIUM(2+) | 4wq3 | B | E163 | CA | CALCIUM(2+) | 5d69 | A | E163 | CA | CALCIUM(2+) | 5d69 | B | E163 | 3SU | (2Z)-3-(6-BROMO-1H-INDOL-3-YL)-2-SULFANYLPROP-2-ENOIC ACID | 4wq3 | A | L104 | 3SU | (2Z)-3-(6-BROMO-1H-INDOL-3-YL)-2-SULFANYLPROP-2-ENOIC ACID | 4wq3 | B | Q100 | 2UB | (Z)-3-(4-CHLOROPHENYL)-2-MERCAPTOACRYLIC ACID | 4phk | A | Q175 | 2UB | (Z)-3-(4-CHLOROPHENYL)-2-MERCAPTOACRYLIC ACID | 4phk | B | Q175 | 2UD | 3-(5-BROMO-1H-INDOL-3-YL)-2-THIOXOPROPANOIC ACID | 4phm | A | Q175 | 2UD | 3-(5-BROMO-1H-INDOL-3-YL)-2-THIOXOPROPANOIC ACID | 4phm | B | Q175 | 3SU | (2Z)-3-(6-BROMO-1H-INDOL-3-YL)-2-SULFANYLPROP-2-ENOIC ACID | 4wq2 | A | Q175 | 3SU | (2Z)-3-(6-BROMO-1H-INDOL-3-YL)-2-SULFANYLPROP-2-ENOIC ACID | 4wq2 | B | Q175 | 3SU | (2Z)-3-(6-BROMO-1H-INDOL-3-YL)-2-SULFANYLPROP-2-ENOIC ACID | 4wq3 | A | Q175 | 3SU | (2Z)-3-(6-BROMO-1H-INDOL-3-YL)-2-SULFANYLPROP-2-ENOIC ACID | 4wq3 | B | Q175 | 57T | (2E,2'Z)-2,2'-DISULFANEDIYLBIS[3-(4-IODOPHENYL)PROP-2- ENOIC ACID] | 5d69 | A | Q175 | 57T | (2E,2'Z)-2,2'-DISULFANEDIYLBIS[3-(4-IODOPHENYL)PROP-2- ENOIC ACID] | 5d69 | B | Q175 |
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| Conservation information for LBS of CAPNS1 |
| Multiple alignments for P04632 in multiple species |
| LBS | AA sequence | # species | Species | D152 | MVAVMDSDTTG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D154 | AVMDSDTTGKL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E114 | AGDDMEVSATE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E163 | KLGFEEFKYLW | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | F164 | LGFEEFKYLWN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | F226 | SGNMDFDNFIS | 2 | Homo sapiens, Mus musculus | F226 | TGNMDFDNFIS | 1 | Rattus norvegicus | F226 | GGNMDFDNFIS | 1 | Bos taurus | G160 | TTGKLGFEEFK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H131 | KVVTRHPDLKT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I123 | TELMNILNKVV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I171 | YLWNNIKKWQA | 2 | Mus musculus, Bos taurus | I171 | YLWNNIKRWQA | 1 | Homo sapiens | I171 | YLWNNIKKWQG | 1 | Rattus norvegicus | K126 | MNILNKVVTRH | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K158 | SDTTGKLGFEE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K172 | LWNNIKRWQAI | 1 | Homo sapiens | K172 | LWNNIKKWQAI | 1 | Mus musculus | K172 | LWNNIKKWQGI | 1 | Rattus norvegicus | K172 | LWNNIKKWQAV | 1 | Bos taurus | L104 | RQFRRLFAQLA | 2 | Homo sapiens, Bos taurus | L104 | RQFRKLFVQLA | 2 | Mus musculus, Rattus norvegicus | L124 | ELMNILNKVVT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L134 | TRHPDLKTDGF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Q100 | SEEVRQFRRLF | 2 | Homo sapiens, Bos taurus | Q100 | SEEVRQFRKLF | 1 | Mus musculus | Q100 | SEEERQFRKLF | 1 | Rattus norvegicus | Q175 | NIKRWQAIYKQ | 1 | Homo sapiens | Q175 | NIKKWQAIYKR | 1 | Mus musculus | Q175 | NIKKWQGIYKR | 1 | Rattus norvegicus | Q175 | NIKKWQAVYKQ | 1 | Bos taurus | R130 | NKVVTRHPDLK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T156 | MDSDTTGKLGF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V127 | NILNKVVTRHP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V128 | ILNKVVTRHPD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | W168 | EFKYLWNNIKK | 3 | Mus musculus, Rattus norvegicus, Bos taurus | W168 | EFKYLWNNIKR | 1 | Homo sapiens |
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