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mutLBSgeneDB |
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| Gene summary for ARHGDIA |
 Gene summary |
| Basic gene Info. | Gene symbol | ARHGDIA |
| Gene name | Rho GDP dissociation inhibitor (GDI) alpha | |
| Synonyms | GDIA1|HEL-S-47e|NPHS8|RHOGDI|RHOGDI-1 | |
| Cytomap | UCSC genome browser: 17q25.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001185077.2, NM_001185078.2,NM_001301240.1,NM_001301241.1,NM_001301242.1, NM_001301243.1,NM_004309.5,NR_125441.1, | |
| Description | GDP-dissociation inhibitor, aplysia RAS-related 1epididymis secretory sperm binding protein Li 47erho GDP-dissociation inhibitor 1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 601925 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000141522 | ||
| HPRD : 03565 | ||
| Vega : OTTHUMG00000178352 | ||
| Protein | UniProt: P52565 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ARHGDIA | |
| BioGPS: 396 | ||
| Pathway | NCI Pathway Interaction Database: ARHGDIA | |
| KEGG: ARHGDIA | ||
| REACTOME: ARHGDIA | ||
| Pathway Commons: ARHGDIA | ||
| Context | iHOP: ARHGDIA | |
| ligand binding site mutation search in PubMed: ARHGDIA | ||
| UCL Cancer Institute: ARHGDIA | ||
| 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 ARHGDIA |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | I112 | K113Q | COAD | 1 | L196 | L196R | GBM | 1 | I139 | K138E | 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 ARHGDIA |
| 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 | I139 | K138E | 0.200122 | L196 | L196R | -1.003623 | I112 | K113Q | -0.78182005 |
| (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 ARHGDIA from PDB |
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| Differential gene expression and gene-gene network for ARHGDIA |
| 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 ARHGDIA |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027627 | Neoplasm Metastasis | 3 | Biomarker |
| umls:C1458155 | Breast Neoplasms | 1 | Biomarker |
| umls:C0019693 | HIV Infections | 1 | Biomarker |
| umls:C0022548 | Keloid | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ARHGDIA |
| 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 ARHGDIA go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of ARHGDIA |
| Multiple alignments for P52565 in multiple species |
| LBS | AA sequence | # species | Species | A171 | PKGMLARGSYN | 3 | Bos taurus, Mus musculus, Rattus norvegicus | A171 | PKGMLARGSYS | 1 | Homo sapiens | A171 | PSGMFARGSYS | 1 | Arabidopsis thaliana | A171 | PSGMMHRGKYK | 1 | Caenorhabditis elegans | A171 | PSGFLARGNYS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A171 | PTGMLARGHYE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I112 | GVEYRIKISFR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I112 | GSKYNLKFTFH | 1 | Arabidopsis thaliana | I112 | GSNYRLSFAFH | 1 | Caenorhabditis elegans | I112 | NSIYKLKIVFK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I112 | GSEFKIGVKFR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I139 | RKGVKIDKTDY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I139 | KTGVKVDRAKE | 1 | Arabidopsis thaliana | I139 | RSGITVENEKY | 1 | Caenorhabditis elegans | I139 | KAGIAVDKIDD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I139 | RRGFVVDKTST | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L196 | SWEWNLTIKKE | 3 | Bos taurus, Mus musculus, Rattus norvegicus | L196 | SWEWNLTIKKD | 1 | Homo sapiens | L196 | EINYSFDIRKE | 1 | Arabidopsis thaliana | L196 | DWQWTLHITKE | 1 | Caenorhabditis elegans | L196 | TLNWGVEIVKK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L196 | EFVWAFDVAKS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L75 | VIVTRLTLVCS | 2 | Mus musculus, Rattus norvegicus | L75 | VVVTGLTLVCS | 1 | Homo sapiens | L75 | VRIDSLAIISP | 1 | Arabidopsis thaliana | L75 | VIVRSVELLIN | 1 | Caenorhabditis elegans | L75 | VVVTRLTLVCS | 1 | Bos taurus | L75 | VVVQKIQLLVN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L75 | VVILKLSLLVD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L77 | VTRLTLVCSTA | 3 | Bos taurus, Mus musculus, Rattus norvegicus | L77 | VTGLTLVCSSA | 1 | Homo sapiens | L77 | IDSLAIISPGR | 1 | Arabidopsis thaliana | L77 | VRSVELLINGK | 1 | Caenorhabditis elegans | L77 | VQKIQLLVNTE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L77 | ILKLSLLVDGR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L88 | PGPLELDLTGD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L88 | PDIVLLVPENG | 1 | Arabidopsis thaliana | L88 | -TAQSFDLSDP | 1 | Caenorhabditis elegans | L88 | PNPITFDLTNE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L88 | -DPVDVNMEDA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | P166 | PMEEAPKGMLA | 3 | Bos taurus, Mus musculus, Rattus norvegicus | P166 | PVEEAPKGMLA | 1 | Homo sapiens | P166 | PEETTPSGMFA | 1 | Arabidopsis thaliana | P166 | PNEEAPSGMMH | 1 | Caenorhabditis elegans | P166 | PESEAPSGFLA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P166 | EPDEAPTGMLA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q130 | GMKYIQHTYRK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Q130 | GLRYTNTVWKT | 1 | Arabidopsis thaliana | Q130 | GLHYKHKVKRS | 1 | Caenorhabditis elegans | Q130 | GLRYVQYIKKA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q130 | GLRYVQTVRRR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T132 | KYIQHTYRKGV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T132 | RYTNTVWKTGV | 1 | Arabidopsis thaliana | T132 | HYKHKVKRSGI | 1 | Caenorhabditis elegans | T132 | RYVQYIKKAGI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T132 | RYVQTVRRRGF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | W194 | HLSWEWNLTIK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | W194 | YLEINYSFDIR | 1 | Arabidopsis thaliana | W194 | YLDWQWTLHIT | 1 | Caenorhabditis elegans | W194 | HLTLNWGVEIV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | W194 | HHEFVWAFDVA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y110 | KEGVEYRIKIS | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y110 | KEGSKYNLKFT | 1 | Arabidopsis thaliana | Y110 | KEGSNYRLSFA | 1 | Caenorhabditis elegans | Y110 | KENSIYKLKIV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y110 | KEGSEFKIGVK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) |
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