|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for CA7 |
 Gene summary |
| Basic gene Info. | Gene symbol | CA7 |
| Gene name | carbonic anhydrase VII | |
| Synonyms | CAVII | |
| Cytomap | UCSC genome browser: 16q22.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001014435.1, NM_005182.2, | |
| Description | CA-VIIcarbonate dehydratase VIIcarbonic anhydrase 7carbonic dehydratase VII | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 114770 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000168748 | ||
| HPRD : 00263 | ||
| Vega : OTTHUMG00000137524 | ||
| Protein | UniProt: P43166 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CA7 | |
| BioGPS: 766 | ||
| Pathway | NCI Pathway Interaction Database: CA7 | |
| KEGG: CA7 | ||
| REACTOME: CA7 | ||
| Pathway Commons: CA7 | ||
| Context | iHOP: CA7 | |
| ligand binding site mutation search in PubMed: CA7 | ||
| UCL Cancer Institute: CA7 | ||
| 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 |
| Top |
| Ligand binding site mutations for CA7 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A137 | A139S | COAD | 1 | A137 | A139T | SKCM | 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. |
| Top |
| Protein structure related information for CA7 |
| 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 |
 |
| 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 | A137 | A139S | -0.12747172 | A137 | A139T | -0.053344271 |
| (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 CA7 from PDB |
| Top |
| Differential gene expression and gene-gene network for CA7 |
| 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) |
| Top |
| Top |
| Phenotype information for CA7 |
| 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 |
| Top |
| Pharmacological information for CA7 |
| 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. |
 |
| Gene-centered drug-gene interaction network |
 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Withdrawn | DB00311 | Ethoxzolamide | Small molecule |  |
| Approved | DB00703 | Methazolamide | Small molecule |  |
| Approved|vet_approved | DB00819 | Acetazolamide | Small molecule |  |
| Approved|investigational | DB00909 | Zonisamide | Small molecule |  |
| Approved | DB01144 | Diclofenamide | Small molecule |  |
| Investigational | DB08846 | Ellagic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of CA7 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | EZL | ETHOXZOLAMIDE | 3mdz | A | A137 |
| Top |
| Conservation information for LBS of CA7 |
| Multiple alignments for P43166 in multiple species |
| LBS | AA sequence | # species | Species | A137 | TFGEAASAPDG | 1 | Homo sapiens | A137 | -----QAKDGS | 1 | Arabidopsis thaliana | A137 | TFGEAAAAPDG | 1 | Mus musculus | A137 | TLKEALSRPDG | 1 | Caenorhabditis elegans | A137 | ---QGVEDPGK | 1 | Caenorhabditis elegans | F133 | KKYSTFGEAAS | 1 | Homo sapiens | F133 | ---------QA | 1 | Arabidopsis thaliana | F133 | KKYSTFGEAAA | 1 | Mus musculus | F133 | REGLTLKEALS | 1 | Caenorhabditis elegans | F133 | -------QGVE | 1 | Caenorhabditis elegans | H121 | FPSELHLVHWN | 2 | Homo sapiens, Mus musculus | H121 | YPAELHLVH-- | 2 | Caenorhabditis elegans, Caenorhabditis elegans | H121 | YAAELHMVH-- | 1 | Arabidopsis thaliana | H96 | RLKQFHFHWGK | 1 | Homo sapiens | H96 | TLLQMHWH--- | 1 | Arabidopsis thaliana | H96 | RLKQLHFHWGK | 1 | Mus musculus | H96 | KLAQFHLHWGQ | 1 | Caenorhabditis elegans | H96 | RLVQYHFHWGE | 1 | Caenorhabditis elegans | H98 | KQFHFHWGKKH | 1 | Homo sapiens | H98 | LQMHWH----- | 1 | Arabidopsis thaliana | H98 | KQLHFHWGKKR | 1 | Mus musculus | H98 | AQFHLHWGQND | 1 | Caenorhabditis elegans | H98 | VQYHFHWGEND | 1 | Caenorhabditis elegans | L200 | TYPGSLTTPPL | 2 | Homo sapiens, Mus musculus | L200 | RYIGSLTTPPC | 1 | Arabidopsis thaliana | L200 | RYEGSLTTPDC | 1 | Caenorhabditis elegans | L200 | RYEGSLTTPPC | 1 | Caenorhabditis elegans | P203 | GSLTTPPLSES | 2 | Homo sapiens, Mus musculus | P203 | GSLTTPPCSEN | 1 | Arabidopsis thaliana | P203 | GSLTTPDCSEA | 1 | Caenorhabditis elegans | P203 | GSLTTPPCSEI | 1 | Caenorhabditis elegans | Q94 | PYRLKQFHFHW | 1 | Homo sapiens | Q94 | NYTLLQMHWH- | 1 | Arabidopsis thaliana | Q94 | PYRLKQLHFHW | 1 | Mus musculus | Q94 | RYKLAQFHLHW | 1 | Caenorhabditis elegans | Q94 | VYRLVQYHFHW | 1 | Caenorhabditis elegans | T201 | YPGSLTTPPLS | 2 | Homo sapiens, Mus musculus | T201 | YIGSLTTPPCS | 1 | Arabidopsis thaliana | T201 | YEGSLTTPDCS | 1 | Caenorhabditis elegans | T201 | YEGSLTTPPCS | 1 | Caenorhabditis elegans | T202 | PGSLTTPPLSE | 2 | Homo sapiens, Mus musculus | T202 | IGSLTTPPCSE | 1 | Arabidopsis thaliana | T202 | EGSLTTPDCSE | 1 | Caenorhabditis elegans | T202 | EGSLTTPPCSE | 1 | Caenorhabditis elegans | V123 | SELHLVHWNAK | 2 | Homo sapiens, Mus musculus | V123 | AELHMVH---- | 1 | Arabidopsis thaliana | V123 | AELHLVH--VR | 1 | Caenorhabditis elegans | V123 | AELHLVH---- | 1 | Caenorhabditis elegans | W211 | SESVTWIVLRE | 2 | Homo sapiens, Mus musculus | W211 | SENVSWTILGK | 1 | Arabidopsis thaliana | W211 | SEAVIWTVLAE | 1 | Caenorhabditis elegans | W211 | SEIVTWTIFTE | 1 | Caenorhabditis elegans |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |