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mutLBSgeneDB |
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| Gene summary for CA14 |
 Gene summary |
| Basic gene Info. | Gene symbol | CA14 |
| Gene name | carbonic anhydrase XIV | |
| Synonyms | CAXiV | |
| Cytomap | UCSC genome browser: 1q21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_012113.1, | |
| Description | CA-XIVcarbonate dehydratase XIVcarbonic anhydrase 14carbonic dehydratase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604832 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000118298 | ||
| HPRD : 05320 | ||
| Vega : OTTHUMG00000012549 | ||
| Protein | UniProt: Q9ULX7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CA14 | |
| BioGPS: 23632 | ||
| Pathway | NCI Pathway Interaction Database: CA14 | |
| KEGG: CA14 | ||
| REACTOME: CA14 | ||
| Pathway Commons: CA14 | ||
| Context | iHOP: CA14 | |
| ligand binding site mutation search in PubMed: CA14 | ||
| UCL Cancer Institute: CA14 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_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 CA14 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H111 | W112L | LUSC | 1 | L216 | S215L | OV | 1 | W227 | T228A | 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 CA14 |
| 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 | W227 | T228A | -1.4656851 | L216 | S215L | -0.59235342 | H111 | W112L | -0.075114797 |
| (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 CA14 from PDB |
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| Differential gene expression and gene-gene network for CA14 |
| 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 CA14 |
| 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 CA14 |
| 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 |
| Approved|vet_approved | DB00819 | Acetazolamide | Small molecule |  |
| Approved|investigational | DB00909 | Zonisamide | Small molecule |  |
| Investigational | DB08846 | Ellagic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CA14 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of CA14 |
| Multiple alignments for Q9ULX7 in multiple species |
| LBS | AA sequence | # species | Species |
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