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mutLBSgeneDB |
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| Gene summary for CAPN9 |
 Gene summary |
| Basic gene Info. | Gene symbol | CAPN9 |
| Gene name | calpain 9 | |
| Synonyms | GC36|nCL-4 | |
| Cytomap | UCSC genome browser: 1q42.11-q42.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006615.2, NM_016452.1, | |
| Description | calpain-9digestive tract-specific calpainnew calpain 4novel calpain large subunit-4 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606401 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000135773 | ||
| HPRD : 05909 | ||
| Vega : OTTHUMG00000037779 | ||
| Protein | UniProt: O14815 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CAPN9 | |
| BioGPS: 10753 | ||
| Pathway | NCI Pathway Interaction Database: CAPN9 | |
| KEGG: CAPN9 | ||
| REACTOME: CAPN9 | ||
| Pathway Commons: CAPN9 | ||
| Context | iHOP: CAPN9 | |
| ligand binding site mutation search in PubMed: CAPN9 | ||
| UCL Cancer Institute: CAPN9 | ||
| 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 CAPN9 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E284 | E284Q | HNSC | 1 | Q91 | Q91R | KIRC | 1 | E316 | F317L | KIRC | 1 | G190 | A192T | 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 CAPN9 |
| 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 | G190 | A192T | 0.18491776 | Q91 | Q91R | 0.016657638 | E284 | E284Q | -0.78272349 | E316 | F317L | -0.30919196 |
| (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 CAPN9 from PDB |
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| Differential gene expression and gene-gene network for CAPN9 |
| 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 CAPN9 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CAPN9 |
| 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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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CAPN9 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 1ziv | A | E284 E316 | CA | CALCIUM(2+) | 2p0r | A | E284 E316 | CA | CALCIUM(2+) | 2p0r | B | E284 E316 | III | Peptide ligand (ACE,LEU,LEU,AR7) | 2p0r | B | G190 | III | Peptide ligand (ACE,LEU,LEU,AR7) | 2p0r | A | Q91 G190 |
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| Conservation information for LBS of CAPN9 |
| Multiple alignments for O14815 in multiple species |
| LBS | AA sequence | # species | Species | A255 | LIKGHAYTVTG | 2 | Mus musculus, Rattus norvegicus | A255 | LIRGHAYSITK | 2 | Drosophila melanogaster, Drosophila melanogaster | A255 | LIKGHAYSVTG | 1 | Homo sapiens | C97 | GELGDCWLLAA | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Drosophila melanogaster, Drosophila melanogaster | D291 | NGPWSDSSPEW | 3 | Mus musculus, Rattus norvegicus, Drosophila melanogaster | D291 | NGSWSDSSPEW | 1 | Homo sapiens | D291 | SGPWSDSSPEW | 1 | Drosophila melanogaster | D314 | HTALDDGEFWM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D314 | LNFDRDGEFWM | 1 | Drosophila melanogaster | D314 | LTFDRDGEFWM | 1 | Drosophila melanogaster | D88 | GATRTDICQGE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D88 | GYSRFDVQQGE | 2 | Drosophila melanogaster, Drosophila melanogaster | E167 | SADHNEFWSAL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E167 | STEKNEFWSAL | 2 | Drosophila melanogaster, Drosophila melanogaster | E243 | SAAESEARTPF | 1 | Homo sapiens | E243 | NASESEARTSL | 1 | Mus musculus | E243 | NASESEARTPL | 1 | Rattus norvegicus | E243 | DPHVLEAETPQ | 1 | Drosophila melanogaster | E243 | DPNVTEAETPQ | 1 | Drosophila melanogaster | E284 | WG-QVEWNGPW | 2 | Mus musculus, Rattus norvegicus | E284 | WG-QVEWNGSW | 1 | Homo sapiens | E284 | WGNDAEWSGPW | 1 | Drosophila melanogaster | E284 | WGNEAEWNGPW | 1 | Drosophila melanogaster | E316 | ALDDGEFWMAF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E316 | FDRDGEFWMSF | 2 | Drosophila melanogaster, Drosophila melanogaster | F233 | SLLGCSIDTLN | 2 | Mus musculus, Rattus norvegicus | F233 | SLLGCFIDTRS | 1 | Homo sapiens | F233 | SMMGCSLEP-D | 1 | Drosophila melanogaster | F233 | SMMGCSIEP-D | 1 | Drosophila melanogaster | G189 | YEALKGGSAIE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G189 | YEALKGGTTCE | 1 | Drosophila melanogaster | G189 | YEALKGGSTCE | 1 | Drosophila melanogaster | G190 | EALKGGSAIEA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G190 | EALKGGTTCEA | 1 | Drosophila melanogaster | G190 | EALKGGSTCEA | 1 | Drosophila melanogaster | G253 | LGLIKGHAYTV | 2 | Mus musculus, Rattus norvegicus | G253 | QGLIRGHAYSI | 2 | Drosophila melanogaster, Drosophila melanogaster | G253 | FGLIKGHAYSV | 1 | Homo sapiens | G82 | PEFILGGATRT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G82 | PQFFVEGYSRF | 2 | Drosophila melanogaster, Drosophila melanogaster | G83 | EFILGGATRTD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G83 | QFFVEGYSRFD | 2 | Drosophila melanogaster, Drosophila melanogaster | G95 | CQGELGDCWLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G95 | QQGELGDCWLL | 2 | Drosophila melanogaster, Drosophila melanogaster | K188 | SYEALKGGSAI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K188 | SYEALKGGTTC | 1 | Drosophila melanogaster | K188 | SYEALKGGSTC | 1 | Drosophila melanogaster | L312 | LGHTALDDGEF | 2 | Mus musculus, Rattus norvegicus | L312 | LCHTALDDGEF | 1 | Homo sapiens | L312 | IGLNFDRDGEF | 1 | Drosophila melanogaster | L312 | IGLTFDRDGEF | 1 | Drosophila melanogaster | L81 | NPEFILGGATR | 2 | Homo sapiens, Rattus norvegicus | L81 | KPEFILGGATR | 1 | Mus musculus | L81 | DPQFFVEGYSR | 1 | Drosophila melanogaster | L81 | NPQFFVEGYSR | 1 | Drosophila melanogaster | N52 | DFPASNSSLFY | 2 | Homo sapiens, Rattus norvegicus | N52 | DFPASNVSLFY | 1 | Mus musculus | N52 | DFPATNASLMY | 1 | Drosophila melanogaster | N52 | LFPASNESLQF | 1 | Drosophila melanogaster | Q91 | RTDICQGELGD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q91 | RFDVQQGELGD | 2 | Drosophila melanogaster, Drosophila melanogaster | R60 | LFYSERPQVPF | 2 | Mus musculus, Rattus norvegicus | R60 | LFYSERPQIPF | 1 | Homo sapiens | R60 | LMYSRRPDRYY | 1 | Drosophila melanogaster | R60 | LQFSRRPDRHI | 1 | Drosophila melanogaster | S242 | RSAAESEARTP | 1 | Homo sapiens | S242 | LNASESEARTS | 1 | Mus musculus | S242 | LNASESEARTP | 1 | Rattus norvegicus | S242 | -DPHVLEAETP | 1 | Drosophila melanogaster | S242 | -DPNVTEAETP | 1 | Drosophila melanogaster | W98 | ELGDCWLLAAI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W98 | ELGDCWLLAAA | 1 | Drosophila melanogaster | W98 | ELGDCWLLAAT | 1 | Drosophila melanogaster |
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