mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for RASEF
Gene summary
Basic gene Info.Gene symbolRASEF
Gene nameRAS and EF-hand domain containing
CytomapUCSC genome browser: 9q21.32
Type of geneprotein-coding
Descriptionras and EF-hand domain-containing proteinras-related protein Rab-45
Modification date20141207
dbXrefs MIM : 611344
Ensembl : ENSG00000165105
HPRD : 08337
Vega : OTTHUMG00000020100
ProteinUniProt: Q8IZ41
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RASEF
BioGPS: 158158
PathwayNCI Pathway Interaction Database: RASEF
Pathway Commons: RASEF
ContextiHOP: RASEF
ligand binding site mutation search in PubMed: RASEF
UCL Cancer Institute: RASEF
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

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.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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.
LBSAAchange of nsSNVRelative stability change
(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

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)
* Left PPI network was created from samples with mutations in the LBS of RASEF and the right PPI network was created from samples without mutations in the LBS of RASEF. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for RASEF
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for RASEF
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of RASEF go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of RASEF
Multiple alignments for Q8IZ41 in multiple species
LBSAA sequence# speciesSpecies
A551LAGDAAVGKSS3Homo sapiens, Xenopus tropicalis, Mus musculus
A551MCGDAAVGKSS1Caenorhabditis elegans
A598QLWDTAGQERF4Homo sapiens, Caenorhabditis elegans, Xenopus tropicalis, Mus musculus
A61ADRDGAITFQE1Homo sapiens
A61QDGSGKIEKLE1Caenorhabditis elegans
A61SDKDSCITFED1Xenopus tropicalis
A61-----------1Mus musculus
A691FCETSAKDGSN2Homo sapiens, Mus musculus
A691FMETSALDGSN1Caenorhabditis elegans
A691FCETSAKEGSN1Xenopus tropicalis
D21VFAACDANRSG1Homo sapiens
D21LFSLCDSESKG1Caenorhabditis elegans
D21LFHTFDSKSSG1Xenopus tropicalis
D21FIH--------1Mus musculus
D55VFQRLDADRDG1Homo sapiens
D55IFTELDQDGSG1Caenorhabditis elegans
D55IFARLDSDKDS1Xenopus tropicalis
D55LYTAL------1Mus musculus
D57QRLDADRDGAI1Homo sapiens
D57TELDQDGSGKI1Caenorhabditis elegans
D57ARLDSDKDSCI1Xenopus tropicalis
D57TAL--------1Mus musculus
D59LDADRDGAITF1Homo sapiens
D59LDQDGSGKIEK1Caenorhabditis elegans
D59LDSDKDSCITF1Xenopus tropicalis
D59L----------1Mus musculus
D657VGNKADIRDTA1Homo sapiens
D657VGNKVDMR--I1Caenorhabditis elegans
D657VGNKADLRQLM1Xenopus tropicalis
D657VGNKADLRDVD1Mus musculus
E29RSGRLEREEFR1Homo sapiens
E29SKGYLTMEDLR1Caenorhabditis elegans
E29SSGRLEKGQFS1Xenopus tropicalis
E29-----------1Mus musculus
E32RLEREEFRALC1Homo sapiens
E32YLTMEDLRKVC1Caenorhabditis elegans
E32RLEKGQFSALC1Xenopus tropicalis
E32-----------1Mus musculus
E66AITFQEFARGF1Homo sapiens
E66KIEKLEFLRGF1Caenorhabditis elegans
E66CITFEDFAMGF1Xenopus tropicalis
E66--------RGL1Mus musculus
G553GDAAVGKSSFL3Homo sapiens, Xenopus tropicalis, Mus musculus
G553GDAAVGKSSFV1Caenorhabditis elegans
I658GNKADIRDTAA1Homo sapiens
I658GNKVDMR--IS1Caenorhabditis elegans
I658GNKADLRQLMA1Xenopus tropicalis
I658GNKADLRDVDN1Mus musculus
K554DAAVGKSSFLM3Homo sapiens, Xenopus tropicalis, Mus musculus
K554DAAVGKSSFVM1Caenorhabditis elegans
K655MLVGNKADIRD1Homo sapiens
K655ILVGNKVDMR-1Caenorhabditis elegans
K655MMVGNKADLRQ1Xenopus tropicalis
K655MLVGNKADLRD1Mus musculus
K692CETSAKDGSNI1Homo sapiens
K692METSALDGSNI1Caenorhabditis elegans
K692CETSAKEGSNI1Xenopus tropicalis
K692CETSAKDGSNV1Mus musculus
N23AACDANRSGRL1Homo sapiens
N23SLCDSESKGYL1Caenorhabditis elegans
N23HTFDSKSSGRL1Xenopus tropicalis
N23H----------1Mus musculus
N654IMLVGNKADIR1Homo sapiens
N654IILVGNKVDMR1Caenorhabditis elegans
N654IMMVGNKADLR1Xenopus tropicalis
N654IMLVGNKADLR1Mus musculus
R27ANRSGRLEREE1Homo sapiens
R27SESKGYLTMED1Caenorhabditis elegans
R27SKSSGRLEKGQ1Xenopus tropicalis
R27-----------1Mus musculus
S25CDANRSGRLER1Homo sapiens
S25CDSESKGYLTM1Caenorhabditis elegans
S25FDSKSSGRLEK1Xenopus tropicalis
S25-----------1Mus musculus
S555AAVGKSSFLMR3Homo sapiens, Xenopus tropicalis, Mus musculus
S555AAVGKSSFVMR1Caenorhabditis elegans
S556AVGKSSFLMRL3Homo sapiens, Xenopus tropicalis, Mus musculus
S556AVGKSSFVMRV1Caenorhabditis elegans
S690LFCETSAKDGS2Homo sapiens, Mus musculus
S690LFMETSALDGS1Caenorhabditis elegans
S690LFCETSAKEGS1Xenopus tropicalis
V552AGDAAVGKSSF3Homo sapiens, Xenopus tropicalis, Mus musculus
V552CGDAAVGKSSF1Caenorhabditis elegans

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