|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for ADAMTS13 |
 Gene summary |
| Basic gene Info. | Gene symbol | ADAMTS13 |
| Gene name | ADAM metallopeptidase with thrombospondin type 1 motif, 13 | |
| Synonyms | ADAM-TS13|ADAMTS-13|C9orf8|VWFCP|vWF-CP | |
| Cytomap | UCSC genome browser: 9q34 | |
| Type of gene | protein-coding | |
| RefGenes | NM_139025.4, NM_139026.4,NM_139027.4,NR_024514.2,NM_139028.2, | |
| Description | A disintegrin and metalloproteinase with thrombospondin motifs 13a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13vWF-cleaving proteasevon Willebrand factor-cleaving protease | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604134 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000160323 | ||
| HPRD : 04994 | ||
| Vega : OTTHUMG00000020876 | ||
| Protein | UniProt: Q76LX8 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ADAMTS13 | |
| BioGPS: 11093 | ||
| Pathway | NCI Pathway Interaction Database: ADAMTS13 | |
| KEGG: ADAMTS13 | ||
| REACTOME: ADAMTS13 | ||
| Pathway Commons: ADAMTS13 | ||
| Context | iHOP: ADAMTS13 | |
| ligand binding site mutation search in PubMed: ADAMTS13 | ||
| UCL Cancer Institute: ADAMTS13 | ||
| 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:0006508 | proteolysis | 11535495 | GO:0043171 | peptide catabolic process | 11535495 |
| Top |
| Ligand binding site mutations for ADAMTS13 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R409 | R409Q | SKCM | 1 | S399 | S399T | 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 ADAMTS13 |
| 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 | R409 | R409Q | -1.3010415 | S399 | S399T | -1.1108666 |
| (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 ADAMTS13 from PDB |
| Top |
| Differential gene expression and gene-gene network for ADAMTS13 |
| 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 ADAMTS13 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0034155 | Purpura, Thrombotic Thrombocytopenic | 141 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C1268935 | THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL | 49 | Biomarker, GeneticVariation |
| umls:C2717961 | Thrombotic Microangiopathies | 28 | Biomarker |
| umls:C0398650 | Purpura, Thrombocytopenic, Idiopathic | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for ADAMTS13 |
| 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. |
 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of ADAMTS13 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | BMA | BETA-D-MANNOSE | 3vn4 | A | R409 | FUC | ALPHA-L-FUCOPYRANOSE | 3ghm | A | S399 | FUC | ALPHA-L-FUCOPYRANOSE | 3ghn | A | S399 | FUC | ALPHA-L-FUCOPYRANOSE | 3vn4 | A | S399 |
| Top |
| Conservation information for LBS of ADAMTS13 |
| Multiple alignments for Q76LX8 in multiple species |
| LBS | AA sequence | # species | Species |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |