mutLBSgeneDB |
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 |
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. |
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 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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