|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for ARFGEF1 |
 Gene summary |
| Basic gene Info. | Gene symbol | ARFGEF1 |
| Gene name | ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) | |
| Synonyms | ARFGEP1|BIG1|P200 | |
| Cytomap | UCSC genome browser: 8q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006421.4, | |
| Description | brefeldin A-inhibited guanine nucleotide-exchange protein 1p200 ARF guanine nucleotide exchange factor | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604141 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000066777 | ||
| HPRD : 09163 | ||
| Vega : OTTHUMG00000164626 | ||
| Protein | UniProt: Q9Y6D6 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ARFGEF1 | |
| BioGPS: 10565 | ||
| Pathway | NCI Pathway Interaction Database: ARFGEF1 | |
| KEGG: ARFGEF1 | ||
| REACTOME: ARFGEF1 | ||
| Pathway Commons: ARFGEF1 | ||
| Context | iHOP: ARFGEF1 | |
| ligand binding site mutation search in PubMed: ARFGEF1 | ||
| UCL Cancer Institute: ARFGEF1 | ||
| 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:0034259 | negative regulation of Rho GTPase activity | 15644318 | GO:0043547 | positive regulation of GTPase activity | 15644318 |
| Top |
| Ligand binding site mutations for ARFGEF1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | M783 | R782H | 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. |
| Top |
| Protein structure related information for ARFGEF1 |
| 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 | M783 | R782H | -1.1282456 |
| (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 ARFGEF1 from PDB |
| Top |
| Differential gene expression and gene-gene network for ARFGEF1 |
| 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 ARFGEF1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for ARFGEF1 |
| 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 ARFGEF1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 3ltl | A | M783 |
| Top |
| Conservation information for LBS of ARFGEF1 |
| Multiple alignments for Q9Y6D6 in multiple species |
| LBS | AA sequence | # species | Species | F784 | SALRMFLEGFR | 2 | Homo sapiens, Bos taurus | F784 | SALRLFLEGFR | 2 | Mus musculus, Rattus norvegicus | F784 | EAIRTFLEGFR | 1 | Arabidopsis thaliana | F784 | EAIRAFLRGFR | 1 | Arabidopsis thaliana | F784 | DALRRLLQCFR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F784 | DALRSFLQSFR | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F788 | MFLEGFRLPGE | 2 | Homo sapiens, Bos taurus | F788 | LFLEGFRLPGE | 2 | Mus musculus, Rattus norvegicus | F788 | TFLEGFRLPGE | 1 | Arabidopsis thaliana | F788 | AFLRGFRLPGE | 1 | Arabidopsis thaliana | F788 | RLLQCFRLPGE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F788 | SFLQSFRLPGE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G787 | RMFLEGFRLPG | 2 | Homo sapiens, Bos taurus | G787 | RLFLEGFRLPG | 2 | Mus musculus, Rattus norvegicus | G787 | RTFLEGFRLPG | 1 | Arabidopsis thaliana | G787 | RAFLRGFRLPG | 1 | Arabidopsis thaliana | G787 | RRLLQCFRLPG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G787 | RSFLQSFRLPG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H770 | AYVDQHDFSGK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H770 | AYVDSFDFRGM | 1 | Arabidopsis thaliana | H770 | AYVDSFEFQGM | 1 | Arabidopsis thaliana | H770 | EFIDCLSFINL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H770 | AFVDEFDFTGM | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L785 | ALRMFLEGFRL | 2 | Homo sapiens, Bos taurus | L785 | ALRLFLEGFRL | 2 | Mus musculus, Rattus norvegicus | L785 | AIRTFLEGFRL | 1 | Arabidopsis thaliana | L785 | AIRAFLRGFRL | 1 | Arabidopsis thaliana | L785 | ALRRLLQCFRL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L785 | ALRSFLQSFRL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L790 | LEGFRLPGEAQ | 5 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Arabidopsis thaliana | L790 | LRGFRLPGEAQ | 1 | Arabidopsis thaliana | L790 | LQCFRLPGEAQ | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L790 | LQSFRLPGEGQ | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | M435 | LCKLSMK-PLS | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | M435 | LCKLSMKAPPK | 1 | Arabidopsis thaliana | M435 | LCKLSMKTPPK | 1 | Arabidopsis thaliana | M435 | MCRLAVRQTSP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | M435 | MAKICAK-PL- | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | M783 | VSALRMFLEGF | 2 | Homo sapiens, Bos taurus | M783 | VSALRLFLEGF | 2 | Mus musculus, Rattus norvegicus | M783 | DEAIRTFLEGF | 1 | Arabidopsis thaliana | M783 | DEAIRAFLRGF | 1 | Arabidopsis thaliana | M783 | VDALRRLLQCF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | M783 | VDALRSFLQSF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R789 | FLEGFRLPGEA | 5 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Arabidopsis thaliana | R789 | FLRGFRLPGEA | 1 | Arabidopsis thaliana | R789 | LLQCFRLPGEA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R789 | FLQSFRLPGEG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y766 | EVMYAYVDQHD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y766 | KVMHAYVDSFD | 1 | Arabidopsis thaliana | Y766 | KVMHAYVDSFE | 1 | Arabidopsis thaliana | Y766 | SVMHEFIDCLS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y766 | AIMHAFVDEFD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |