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mutLBSgeneDB |
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| Gene summary for ADAMTS1 |
 Gene summary |
| Basic gene Info. | Gene symbol | ADAMTS1 |
| Gene name | ADAM metallopeptidase with thrombospondin type 1 motif, 1 | |
| Synonyms | C3-C5|METH1 | |
| Cytomap | UCSC genome browser: 21q21.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006988.3, | |
| Description | A disintegrin and metalloproteinase with thrombospondin motifs 1ADAM-TS 1ADAM-TS1ADAMTS-1METH-1a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1human metalloproteinase with thrombospondin type 1 motifs | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605174 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000154734 | ||
| HPRD : 05530 | ||
| Vega : OTTHUMG00000078688 | ||
| Protein | UniProt: Q9UHI8 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ADAMTS1 | |
| BioGPS: 9510 | ||
| Pathway | NCI Pathway Interaction Database: ADAMTS1 | |
| KEGG: ADAMTS1 | ||
| REACTOME: ADAMTS1 | ||
| Pathway Commons: ADAMTS1 | ||
| Context | iHOP: ADAMTS1 | |
| ligand binding site mutation search in PubMed: ADAMTS1 | ||
| UCL Cancer Institute: ADAMTS1 | ||
| 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 ADAMTS1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N542 | C540F | LUAD | 1 | F526 | P527A | LUAD | 1 | V375 | T377N | LUAD | 1 | F526,D530 | W528S | OV | 1 | N542 | C540Y | STAD | 1 | L519 | C521Y | STAD | 1 | A431 | A431S | STAD | 1 | F526 | P527L | UCEC | 1 | H439 | S440R | 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 ADAMTS1 |
| 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 | F526 | P527A | -1.6333563 | V375 | T377N | -1.4723239 | F526 | P527L | -1.0196003 | A431 | A431S | -0.77826445 | N542 | C540Y | -0.76698499 | N542 | C540F | -0.71177756 | L519 | C521Y | -0.71069604 | F526 | W528S | -0.6721413 | D530 | W528S | -0.6721413 | H439 | S440R | -0.57797741 |
| (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 ADAMTS1 from PDB |
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| Differential gene expression and gene-gene network for ADAMTS1 |
| 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 ADAMTS1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2239176 | Carcinoma, Hepatocellular | 3 | Biomarker |
| umls:C1458155 | Breast Neoplasms | 2 | Biomarker |
| umls:C0007131 | Carcinoma, Non-Small-Cell Lung | 2 | Biomarker |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| umls:C0027626 | Neoplasm Invasiveness | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ADAMTS1 |
| 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 ADAMTS1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 097 | MARIMASTAT | 2jih | A | A431 | 097 | MARIMASTAT | 2jih | B | A431 | MG | MAGNESIUM(2+) | 2jih | B | H439 D530 N542 | MG | MAGNESIUM(2+) | 2v4b | A | H439 D530 N542 | MG | MAGNESIUM(2+) | 2v4b | B | H439 D530 N542 | MG | MAGNESIUM(2+) | 2jih | A | L519 |
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| Conservation information for LBS of ADAMTS1 |
| Multiple alignments for Q9UHI8 in multiple species |
| LBS | AA sequence | # species | Species |
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