mutLBSgeneDB

mutLBSgeneDB
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 RAP1A
Gene summary
Basic gene Info.Gene symbolRAP1A
Gene nameRAP1A, member of RAS oncogene family
SynonymsC21KG|G-22K|KREV-1|KREV1|RAP1|SMGP21
CytomapUCSC genome browser: 1p13.3
Type of geneprotein-coding
RefGenesNM_001010935.2,
NM_001291896.1,NM_002884.3,
DescriptionGTP-binding protein smg p21ARas-related protein Krev-1ras-related protein Rap-1A
Modification date20141207
dbXrefs MIM : 179520
HGNC : HGNC
HPRD : 01545
ProteinUniProt: P62834
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RAP1A
BioGPS: 5906
PathwayNCI Pathway Interaction Database: RAP1A
KEGG: RAP1A
REACTOME: RAP1A
Pathway Commons: RAP1A
ContextiHOP: RAP1A
ligand binding site mutation search in PubMed: RAP1A
UCL Cancer Institute: RAP1A
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0015031protein transport17916086
GO:0071320cellular response to cAMP21840392


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Ligand binding site mutations for RAP1A
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
N116G115DCOAD1
P34P34QLUAD1
G12S11LLUAD1
N116G115DUCEC1
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 RAP1A
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
P34P34Q-1.1385863
N116G115D-0.62662788
G12S11L-0.59068622
(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 RAP1A from PDB

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Differential gene expression and gene-gene network for RAP1A
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 RAP1A and the right PPI network was created from samples without mutations in the LBS of RAP1A. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for RAP1A
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for RAP1A
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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of RAP1A go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GTPGTP1c1yAG12 P34 N116
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER1guaAG12 P34 N116
GDPGUANOSINE-5'-DIPHOSPHATE3kucAN116
GTPGTP4kvgAP34 N116
GTPGTP4kvgCP34 N116


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Conservation information for LBS of RAP1A
Multiple alignments for P62834 in multiple species
LBSAA sequence# speciesSpecies
A148FLESSAKSKIN4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
A148FMETSAKAKVN1Drosophila melanogaster
A18GVGKSALTVQF5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster
D119VGNKCDLEDER4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
D119VGNKCDLEEER1Drosophila melanogaster
E30QGIFVEKYDPT4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
E30QCIFVEKYDPT1Drosophila melanogaster
F28FVQGIFVEKYD4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
F28FVQCIFVEKYD1Drosophila melanogaster
G12VVLGSGGVGKS5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster
G13VLGSGGVGKSA5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster
G15GSGGVGKSALT5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster
G60ILDTAGTEQFT5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster
K117ILVGNKCDLED4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
K117VLVGNKCDLEE1Drosophila melanogaster
K149LESSAKSKINV4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
K149METSAKAKVNV1Drosophila melanogaster
K16SGGVGKSALTV5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster
L120GNKCDLEDERV4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
L120GNKCDLEEERV1Drosophila melanogaster
N116MILVGNKCDLE4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
N116MVLVGNKCDLE1Drosophila melanogaster
P34VEKYDPTIEDS5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster
S147AFLESSAKSKI4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
S147AFMETSAKAKV1Drosophila melanogaster
S17GGVGKSALTVQ5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster
T35EKYDPTIEDSY5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster
V14LGSGGVGKSAL5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster
V29VQGIFVEKYDP4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
V29VQCIFVEKYDP1Drosophila melanogaster
Y32IFVEKYDPTIE5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Drosophila melanogaster


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