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mutLBSgeneDB |
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| Gene summary for RASEF |
 Gene summary |
| Basic gene Info. | Gene symbol | RASEF |
| Gene name | RAS and EF-hand domain containing | |
| Synonyms | RAB45 | |
| Cytomap | UCSC genome browser: 9q21.32 | |
| Type of gene | protein-coding | |
| RefGenes | NM_152573.3, | |
| Description | ras and EF-hand domain-containing proteinras-related protein Rab-45 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611344 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000165105 | ||
| HPRD : 08337 | ||
| Vega : OTTHUMG00000020100 | ||
| Protein | UniProt: Q8IZ41 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RASEF | |
| BioGPS: 158158 | ||
| Pathway | NCI Pathway Interaction Database: RASEF | |
| KEGG: RASEF | ||
| REACTOME: RASEF | ||
| Pathway Commons: RASEF | ||
| Context | iHOP: RASEF | |
| ligand binding site mutation search in PubMed: RASEF | ||
| UCL Cancer Institute: RASEF | ||
| 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 RASEF |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S556 | S556G | GBM | 1 | N654 | G653E | SKCM | 1 | A551 | A550V | STAD | 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 RASEF |
| 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 | S556 | S556G | -0.50154985 | N654 | G653E | -0.07042619 | A551 | A550V | -0.011875337 |
| (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 RASEF from PDB |
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| Differential gene expression and gene-gene network for RASEF |
| 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 RASEF |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for RASEF |
| 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 RASEF go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GDP | GUANOSINE-5'-DIPHOSPHATE | 2p5s | A | A551 S556 N654 | GDP | GUANOSINE-5'-DIPHOSPHATE | 2p5s | B | A551 S556 N654 |
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| Conservation information for LBS of RASEF |
| Multiple alignments for Q8IZ41 in multiple species |
| LBS | AA sequence | # species | Species | A551 | LAGDAAVGKSS | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | A551 | MCGDAAVGKSS | 1 | Caenorhabditis elegans | A598 | QLWDTAGQERF | 4 | Homo sapiens, Caenorhabditis elegans, Xenopus tropicalis, Mus musculus | A61 | ADRDGAITFQE | 1 | Homo sapiens | A61 | QDGSGKIEKLE | 1 | Caenorhabditis elegans | A61 | SDKDSCITFED | 1 | Xenopus tropicalis | A61 | ----------- | 1 | Mus musculus | A691 | FCETSAKDGSN | 2 | Homo sapiens, Mus musculus | A691 | FMETSALDGSN | 1 | Caenorhabditis elegans | A691 | FCETSAKEGSN | 1 | Xenopus tropicalis | D21 | VFAACDANRSG | 1 | Homo sapiens | D21 | LFSLCDSESKG | 1 | Caenorhabditis elegans | D21 | LFHTFDSKSSG | 1 | Xenopus tropicalis | D21 | FIH-------- | 1 | Mus musculus | D55 | VFQRLDADRDG | 1 | Homo sapiens | D55 | IFTELDQDGSG | 1 | Caenorhabditis elegans | D55 | IFARLDSDKDS | 1 | Xenopus tropicalis | D55 | LYTAL------ | 1 | Mus musculus | D57 | QRLDADRDGAI | 1 | Homo sapiens | D57 | TELDQDGSGKI | 1 | Caenorhabditis elegans | D57 | ARLDSDKDSCI | 1 | Xenopus tropicalis | D57 | TAL-------- | 1 | Mus musculus | D59 | LDADRDGAITF | 1 | Homo sapiens | D59 | LDQDGSGKIEK | 1 | Caenorhabditis elegans | D59 | LDSDKDSCITF | 1 | Xenopus tropicalis | D59 | L---------- | 1 | Mus musculus | D657 | VGNKADIRDTA | 1 | Homo sapiens | D657 | VGNKVDMR--I | 1 | Caenorhabditis elegans | D657 | VGNKADLRQLM | 1 | Xenopus tropicalis | D657 | VGNKADLRDVD | 1 | Mus musculus | E29 | RSGRLEREEFR | 1 | Homo sapiens | E29 | SKGYLTMEDLR | 1 | Caenorhabditis elegans | E29 | SSGRLEKGQFS | 1 | Xenopus tropicalis | E29 | ----------- | 1 | Mus musculus | E32 | RLEREEFRALC | 1 | Homo sapiens | E32 | YLTMEDLRKVC | 1 | Caenorhabditis elegans | E32 | RLEKGQFSALC | 1 | Xenopus tropicalis | E32 | ----------- | 1 | Mus musculus | E66 | AITFQEFARGF | 1 | Homo sapiens | E66 | KIEKLEFLRGF | 1 | Caenorhabditis elegans | E66 | CITFEDFAMGF | 1 | Xenopus tropicalis | E66 | --------RGL | 1 | Mus musculus | G553 | GDAAVGKSSFL | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | G553 | GDAAVGKSSFV | 1 | Caenorhabditis elegans | I658 | GNKADIRDTAA | 1 | Homo sapiens | I658 | GNKVDMR--IS | 1 | Caenorhabditis elegans | I658 | GNKADLRQLMA | 1 | Xenopus tropicalis | I658 | GNKADLRDVDN | 1 | Mus musculus | K554 | DAAVGKSSFLM | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | K554 | DAAVGKSSFVM | 1 | Caenorhabditis elegans | K655 | MLVGNKADIRD | 1 | Homo sapiens | K655 | ILVGNKVDMR- | 1 | Caenorhabditis elegans | K655 | MMVGNKADLRQ | 1 | Xenopus tropicalis | K655 | MLVGNKADLRD | 1 | Mus musculus | K692 | CETSAKDGSNI | 1 | Homo sapiens | K692 | METSALDGSNI | 1 | Caenorhabditis elegans | K692 | CETSAKEGSNI | 1 | Xenopus tropicalis | K692 | CETSAKDGSNV | 1 | Mus musculus | N23 | AACDANRSGRL | 1 | Homo sapiens | N23 | SLCDSESKGYL | 1 | Caenorhabditis elegans | N23 | HTFDSKSSGRL | 1 | Xenopus tropicalis | N23 | H---------- | 1 | Mus musculus | N654 | IMLVGNKADIR | 1 | Homo sapiens | N654 | IILVGNKVDMR | 1 | Caenorhabditis elegans | N654 | IMMVGNKADLR | 1 | Xenopus tropicalis | N654 | IMLVGNKADLR | 1 | Mus musculus | R27 | ANRSGRLEREE | 1 | Homo sapiens | R27 | SESKGYLTMED | 1 | Caenorhabditis elegans | R27 | SKSSGRLEKGQ | 1 | Xenopus tropicalis | R27 | ----------- | 1 | Mus musculus | S25 | CDANRSGRLER | 1 | Homo sapiens | S25 | CDSESKGYLTM | 1 | Caenorhabditis elegans | S25 | FDSKSSGRLEK | 1 | Xenopus tropicalis | S25 | ----------- | 1 | Mus musculus | S555 | AAVGKSSFLMR | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | S555 | AAVGKSSFVMR | 1 | Caenorhabditis elegans | S556 | AVGKSSFLMRL | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | S556 | AVGKSSFVMRV | 1 | Caenorhabditis elegans | S690 | LFCETSAKDGS | 2 | Homo sapiens, Mus musculus | S690 | LFMETSALDGS | 1 | Caenorhabditis elegans | S690 | LFCETSAKEGS | 1 | Xenopus tropicalis | V552 | AGDAAVGKSSF | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | V552 | CGDAAVGKSSF | 1 | Caenorhabditis elegans |
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