mutLBSgeneDB |
Gene summary for RASA1 |
Gene summary |
Basic gene Info. | Gene symbol | RASA1 |
Gene name | RAS p21 protein activator (GTPase activating protein) 1 | |
Synonyms | CM-AVM|CMAVM|GAP|PKWS|RASA|RASGAP|p120GAP|p120RASGAP | |
Cytomap | UCSC genome browser: 5q13.3 | |
Type of gene | protein-coding | |
RefGenes | NM_002890.2, NM_022650.2, | |
Description | ras GTPase-activating protein 1triphosphatase-activating protein | |
Modification date | 20141221 | |
dbXrefs | MIM : 139150 | |
HGNC : HGNC | ||
Ensembl : ENSG00000145715 | ||
HPRD : 00745 | ||
Vega : OTTHUMG00000162605 | ||
Protein | UniProt: P20936 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_RASA1 | |
BioGPS: 5921 | ||
Pathway | NCI Pathway Interaction Database: RASA1 | |
KEGG: RASA1 | ||
REACTOME: RASA1 | ||
Pathway Commons: RASA1 | ||
Context | iHOP: RASA1 | |
ligand binding site mutation search in PubMed: RASA1 | ||
UCL Cancer Institute: RASA1 | ||
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:0001953 | negative regulation of cell-matrix adhesion | 8344248 | GO:0007162 | negative regulation of cell adhesion | 8344248 | GO:0007165 | signal transduction | 1756860 | GO:0030833 | regulation of actin filament polymerization | 8344248 |
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Ligand binding site mutations for RASA1 |
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. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | R789 | R789Q | HNSC | 1 | R789 | R789L | HNSC | 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 RASA1 |
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 | R789 | R789Q | -1.3654692 | R789 | R789L | -0.75077113 |
(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 RASA1 from PDB |
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Differential gene expression and gene-gene network for RASA1 |
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 RASA1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C1842180 | Capillary Malformation-Arteriovenous Malformation | 12 | Biomarker, GeneticVariation |
umls:C0003857 | Arteriovenous Malformations | 9 | Biomarker |
umls:C0038505 | Sturge-Weber Syndrome | 5 | Biomarker |
umls:C0007097 | Carcinoma | 3 | AlteredExpression, Biomarker |
umls:C0235752 | Port-Wine Stain | 2 | Biomarker |
umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
umls:C0024667 | Mammary Neoplasms, Animal | 1 | Biomarker |
umls:C0024668 | Mammary Neoplasms, Experimental | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for RASA1 |
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 RASA1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GDP | GUANOSINE-5'-DIPHOSPHATE | 1wq1 | G | R789 |
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Conservation information for LBS of RASA1 |
Multiple alignments for P20936 in multiple species |
LBS | AA sequence | # species | Species | R789 | ATTLFRATTLA | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | T785 | MEDEATTLFRA | 3 | Homo sapiens, Rattus norvegicus, Bos taurus |
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