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mutLBSgeneDB |
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| Gene summary for CASQ1 |
 Gene summary |
| Basic gene Info. | Gene symbol | CASQ1 |
| Gene name | calsequestrin 1 (fast-twitch, skeletal muscle) | |
| Synonyms | CASQ|PDIB1 | |
| Cytomap | UCSC genome browser: 1q21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001231.4, | |
| Description | calmitincalmitinecalsequestrin, skeletal muscle isoformcalsequestrin-1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 114250 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000143318 | ||
| HPRD : 15915 | ||
| Vega : OTTHUMG00000031607 | ||
| Protein | UniProt: P31415 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CASQ1 | |
| BioGPS: 844 | ||
| Pathway | NCI Pathway Interaction Database: CASQ1 | |
| KEGG: CASQ1 | ||
| REACTOME: CASQ1 | ||
| Pathway Commons: CASQ1 | ||
| Context | iHOP: CASQ1 | |
| ligand binding site mutation search in PubMed: CASQ1 | ||
| UCL Cancer Institute: CASQ1 | ||
| 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:0051258 | protein polymerization | 22337878 |
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| Ligand binding site mutations for CASQ1 |
| 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 | E228 | E228G | COAD | 2 | E136 | D135H | BLCA | 1 | V49,D47 | R48C | LUAD | 1 | D141 | D141N | SKCM | 1 | D293 | D293N | SKCM | 1 | D155 | L154V | SKCM | 1 | E365 | E365K | SKCM | 1 | E169 | L170P | STAD | 1 | E203 | E202D | STAD | 1 | E298 | L300V | STAD | 1 | N53 | K55N | UCEC | 1 | S342 | A343V | UCEC | 1 | K335 | T336M | 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 CASQ1 |
| 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 | E169 | L170P | -1.4291771 | E365 | E365K | -1.1927715 | E228 | E228G | -1.1776494 | N53 | K55N | -1.1661164 | D155 | L154V | -1.0294949 | E136 | D135H | -1.0015858 | V49 | R48C | -0.99117935 | D47 | R48C | -0.99117935 | D293 | D293N | -0.74340156 | E298 | L300V | -0.7380589 | S342 | A343V | -0.66277248 | E203 | E202D | -0.46832925 | K335 | T336M | -0.42348975 | D141 | D141N | -0.13626242 |
| (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 CASQ1 from PDB |
| PDB ID | PDB title | PDB structure | 3UOM | Ca2+ complex of Human skeletal calsequestrin |  |
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| Differential gene expression and gene-gene network for CASQ1 |
| 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 CASQ1 |
| 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 CASQ1 |
| 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 CASQ1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 5crg | A | E169 | CA | CALCIUM(2+) | 5crg | B | E169 | CA | CALCIUM(2+) | 5crg | B | E169 | CA | CALCIUM(2+) | 5crg | C | E169 | CA | CALCIUM(2+) | 5crg | D | E169 | CA | CALCIUM(2+) | 5crg | D | E169 |
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| Conservation information for LBS of CASQ1 |
| Multiple alignments for P31415 in multiple species |
| LBS | AA sequence | # species | Species | D114 | VDSEKDAAVAK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D127 | GLTEEDSVYVF | 2 | Mus musculus, Rattus norvegicus | D127 | GLTEVDSMYVF | 1 | Homo sapiens | D141 | EVIEYDGEFSA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D147 | GEFSADTLVEF | 2 | Mus musculus, Rattus norvegicus | D147 | GEFSADTIVEF | 1 | Homo sapiens | D155 | VEFLLDVLEDP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D244 | PVTIPDKPNSE | 2 | Homo sapiens, Rattus norvegicus | D244 | PMTIPDKPNSE | 1 | Mus musculus | D279 | ETWEDDLDGIH | 2 | Mus musculus, Rattus norvegicus | D279 | ETWEDDMDGIH | 1 | Homo sapiens | D281 | WEDDLDGIHIV | 2 | Mus musculus, Rattus norvegicus | D281 | WEDDMDGIHIV | 1 | Homo sapiens | D293 | FAEEADPDGYE | 2 | Mus musculus, Rattus norvegicus | D293 | FAEEADPDGFE | 1 | Homo sapiens | D295 | EEADPDGYEFL | 2 | Mus musculus, Rattus norvegicus | D295 | EEADPDGFEFL | 1 | Homo sapiens | D338 | WEKTFDIDLSA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D340 | KTFDIDLSAPQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D355 | NVTDADSIWME | 2 | Mus musculus, Rattus norvegicus | D355 | NVTDADSVWME | 1 | Homo sapiens | D366 | MDDEEDLPSAE | 2 | Homo sapiens, Rattus norvegicus | D366 | MDNEEDLPSAD | 1 | Mus musculus | D375 | AEELEDWLEDV | 2 | Homo sapiens, Rattus norvegicus | D375 | ADELEDWLEDV | 1 | Mus musculus | D39 | GEDGLDFPEYD | 2 | Mus musculus, Rattus norvegicus | D39 | GQEGLDFPEYD | 1 | Homo sapiens | D47 | EYDGVDRVINV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E125 | KLGLTEEDSVY | 2 | Mus musculus, Rattus norvegicus | E125 | KLGLTEVDSMY | 1 | Homo sapiens | E136 | VFKGDEVIEYD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E139 | GDEVIEYDGEF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E143 | IEYDGEFSADT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E158 | LLDVLEDPVEL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E162 | LEDPVELIEGE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E169 | IEGERELQAFE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E203 | EDAAEEFHPYI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E228 | TLKLNEIDFYE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E233 | EIDFYEAFMEE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E249 | DKPNSEEEIVS | 2 | Mus musculus, Rattus norvegicus | E249 | DKPNSEEEIVN | 1 | Homo sapiens | E251 | PNSEEEIVSFV | 2 | Mus musculus, Rattus norvegicus | E251 | PNSEEEIVNFV | 1 | Homo sapiens | E274 | PESMYETWEDD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E277 | MYETWEDDLDG | 2 | Mus musculus, Rattus norvegicus | E277 | MYETWEDDMDG | 1 | Homo sapiens | E298 | DPDGYEFLETL | 2 | Mus musculus, Rattus norvegicus | E298 | DPDGFEFLETL | 1 | Homo sapiens | E364 | MEMDDEEDLPS | 2 | Homo sapiens, Rattus norvegicus | E364 | MEMDNEEDLPS | 1 | Mus musculus | E365 | EMDDEEDLPSA | 2 | Homo sapiens, Rattus norvegicus | E365 | EMDNEEDLPSA | 1 | Mus musculus | E371 | DLPSAEELEDW | 2 | Homo sapiens, Rattus norvegicus | E371 | DLPSADELEDW | 1 | Mus musculus | E374 | SAEELEDWLED | 2 | Homo sapiens, Rattus norvegicus | E374 | SADELEDWLED | 1 | Mus musculus | E42 | GLDFPEYDGVD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E89 | QFEMEELILEL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E93 | EELILELAAQV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F40 | EDGLDFPEYDG | 2 | Mus musculus, Rattus norvegicus | F40 | QEGLDFPEYDG | 1 | Homo sapiens | I283 | DDLDGIHIVAF | 2 | Mus musculus, Rattus norvegicus | I283 | DDMDGIHIVAF | 1 | Homo sapiens | K335 | VPYWEKTFDID | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L163 | EDPVELIEGER | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L367 | DDEEDLPSAEE | 2 | Homo sapiens, Rattus norvegicus | L367 | DNEEDLPSADE | 1 | Mus musculus | N51 | VDRVINVNAKN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N53 | RVINVNAKNYK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P246 | TIPDKPNSEEE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S145 | YDGEFSADTLV | 2 | Mus musculus, Rattus norvegicus | S145 | YDGEFSADTIV | 1 | Homo sapiens | S342 | FDIDLSAPQIG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T124 | KKLGLTEEDSV | 2 | Mus musculus, Rattus norvegicus | T124 | KKLGLTEVDSM | 1 | Homo sapiens | T148 | EFSADTLVEFL | 2 | Mus musculus, Rattus norvegicus | T148 | EFSADTIVEFL | 1 | Homo sapiens | T223 | VAKKLTLKLNE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T263 | EHRRSTLRKLK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V137 | FKGDEVIEYDG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V49 | DGVDRVINVNA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V52 | DRVINVNAKNY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y273 | KPESMYETWED | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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