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mutLBSgeneDB |
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| Gene summary for ITPKC |
 Gene summary |
| Basic gene Info. | Gene symbol | ITPKC |
| Gene name | inositol-trisphosphate 3-kinase C | |
| Synonyms | IP3-3KC|IP3KC | |
| Cytomap | UCSC genome browser: 19q13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_025194.2, | |
| Description | IP3 3-kinase CIP3K CInsP 3 kinase Cinositol 1,4,5-trisphosphate 3-kinase CinsP 3-kinase C | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606476 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000086544 | ||
| HPRD : 09400 | ||
| Vega : OTTHUMG00000182688 | ||
| Protein | UniProt: Q96DU7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ITPKC | |
| BioGPS: 80271 | ||
| Pathway | NCI Pathway Interaction Database: ITPKC | |
| KEGG: ITPKC | ||
| REACTOME: ITPKC | ||
| Pathway Commons: ITPKC | ||
| Context | iHOP: ITPKC | |
| ligand binding site mutation search in PubMed: ITPKC | ||
| UCL Cancer Institute: ITPKC | ||
| 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 ITPKC |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R541 | W540R | COAD | 1 | K641 | G640D | COAD | 1 | Y537 | R536C | HNSC | 1 | M538 | Q539R | STAD | 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 ITPKC |
| 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 | K641 | G640D | -1.3552233 | Y537 | R536C | -1.2549754 | R541 | W540R | -0.99612609 | M538 | Q539R | -0.33040588 |
| (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 ITPKC from PDB |
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| Differential gene expression and gene-gene network for ITPKC |
| 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 ITPKC |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0026691 | Mucocutaneous Lymph Node Syndrome | 13 | Biomarker, GeneticVariation |
| umls:C0010051 | Coronary Aneurysm | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ITPKC |
| 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 ITPKC go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | I3P | 1D-MYO-INOSITOL 1,4,5-TRISPHOSPHATE | 2a98 | A | Y537 M538 R541 K641 |
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| Conservation information for LBS of ITPKC |
| Multiple alignments for Q96DU7 in multiple species |
| LBS | AA sequence | # species | Species | K486 | SIMDCKMGSRT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K513 | KDMYEKMVAVD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K534 | QGAVTKPRYMQ | 2 | Homo sapiens, Rattus norvegicus | K534 | QGAITKPRYMQ | 1 | Mus musculus | K569 | CNTNFKKTQAL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K641 | MIDFGKTVALP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M510 | KPRKDMYEKMV | 2 | Mus musculus, Rattus norvegicus | M510 | RPRKDMYEKMV | 1 | Homo sapiens | M538 | TKPRYMQWRET | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R507 | ERPKPRKDMYE | 2 | Mus musculus, Rattus norvegicus | R507 | ERPRPRKDMYE | 1 | Homo sapiens | R541 | RYMQWRETLSS | 2 | Mus musculus, Rattus norvegicus | R541 | RYMQWRETMSS | 1 | Homo sapiens | Y537 | VTKPRYMQWRE | 2 | Homo sapiens, Rattus norvegicus | Y537 | ITKPRYMQWRE | 1 | Mus musculus |
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