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mutLBSgeneDB |
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| Gene summary for RASGRP1 |
 Gene summary |
| Basic gene Info. | Gene symbol | RASGRP1 |
| Gene name | RAS guanyl releasing protein 1 (calcium and DAG-regulated) | |
| Synonyms | CALDAG-GEFI|CALDAG-GEFII|RASGRP|V|hRasGRP1 | |
| Cytomap | UCSC genome browser: 15q14 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001128602.1, NM_005739.3, | |
| Description | RAS guanyl nucleotide-releasing protein 1RAS guanyl-releasing protein 1calcium and DAG-regulated guanine nucleotide exchange factor IIguanine nucleotide exchange factor, calcium- and DAG-regulated, Rap1Aras activator RasGRP | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603962 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000172575 | ||
| HPRD : 04909 | ||
| Vega : OTTHUMG00000172379 | ||
| Protein | UniProt: O95267 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RASGRP1 | |
| BioGPS: 10125 | ||
| Pathway | NCI Pathway Interaction Database: RASGRP1 | |
| KEGG: RASGRP1 | ||
| REACTOME: RASGRP1 | ||
| Pathway Commons: RASGRP1 | ||
| Context | iHOP: RASGRP1 | |
| ligand binding site mutation search in PubMed: RASGRP1 | ||
| UCL Cancer Institute: RASGRP1 | ||
| 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 |
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| Ligand binding site mutations for RASGRP1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H542 | P541L | COAD | 1 | C575 | G576W | KIRC | 1 | C572 | R571L | 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 RASGRP1 |
| 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 | C575 | G576W | -1.0956375 | C572 | R571L | -0.70609373 | H542 | P541L | -0.51482871 |
| (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 RASGRP1 from PDB |
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| Differential gene expression and gene-gene network for RASGRP1 |
| 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 RASGRP1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0023467 | Leukemia, Myeloid, Acute | 3 | Biomarker |
| umls:C0003873 | Arthritis, Rheumatoid | 1 | Biomarker |
| umls:C0014175 | Endometriosis | 1 | Biomarker |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for RASGRP1 |
| 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 RASGRP1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 4l9m | A | H542 C572 C575 |
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| Conservation information for LBS of RASGRP1 |
| Multiple alignments for O95267 in multiple species |
| LBS | AA sequence | # species | Species | C555 | LKPTFCDNCAG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C558 | TFCDNCAGFLW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C572 | KQGYRCKDCGM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C575 | YRCKDCGMNCH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C583 | NCHKQCKDLVV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C591 | LVVFECKKRAK | 1 | Homo sapiens | C591 | LVVFECKKRIK | 1 | Mus musculus | C591 | LVVFECKKRSK | 1 | Rattus norvegicus | H542 | GLGFPHNFQET | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H580 | CGMNCHKQCKD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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