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 RAMP1
Gene summary
Basic gene Info.Gene symbolRAMP1
Gene namereceptor (G protein-coupled) activity modifying protein 1
Synonyms-
CytomapUCSC genome browser: 2q36-q37.1
Type of geneprotein-coding
RefGenesNM_005855.2,
DescriptionCRLR activity-modifying protein 1calcitonin receptor-like receptor activity modifying protein 1calcitonin-receptor-like receptor activity-modifying protein 1receptor (calcitonin) activity modifying protein 1receptor activity modifying protein 1recept
Modification date20141207
dbXrefs MIM : 605153
HGNC : HGNC
Ensembl : ENSG00000132329
HPRD : 05515
Vega : OTTHUMG00000133337
ProteinUniProt: O60894
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RAMP1
BioGPS: 10267
PathwayNCI Pathway Interaction Database: RAMP1
KEGG: RAMP1
REACTOME: RAMP1
Pathway Commons: RAMP1
ContextiHOP: RAMP1
ligand binding site mutation search in PubMed: RAMP1
UCL Cancer Institute: RAMP1
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:0001525angiogenesis20596610
GO:0006816calcium ion transport10882736
GO:0008277regulation of G-protein coupled receptor protein signaling pathway9620797
GO:0015031protein transport10882736
GO:0030819positive regulation of cAMP biosynthetic process10882736
GO:0031623receptor internalization15613468
GO:0060050positive regulation of protein glycosylation9620797
GO:0072659protein localization to plasma membrane10882736


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Ligand binding site mutations for RAMP1
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
W74T73IKIRC1
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 RAMP1
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
W74T73I-0.57040381
(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 RAMP1 from PDB

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Differential gene expression and gene-gene network for RAMP1
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 RAMP1 and the right PPI network was created from samples without mutations in the LBS of RAMP1. 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 RAMP1
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 RAMP1
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|investigationalDB01278PramlintideBiotech

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of RAMP1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
N7RN-[(3R,6S)-6-(2,3-DIFLUOROPHENYL)-2-OXO-1-(2,2,2-TRIFLUOROETHYL)AZEPAN-3-YL]-4-(2-OXO-2,3-DIHYDRO-1H-IMIDAZO[4,5-B]PYRIDIN-1-YL)PIPERIDINE-1-CARBOXAMIDE3n7rCW74
3N6OLCEGEPANT3n7rDW74
3N6OLCEGEPANT3n7sDW74


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Conservation information for LBS of RAMP1
Multiple alignments for O60894 in multiple species
LBSAA sequence# speciesSpecies
A70SYRELADCTWH1Homo sapiens
A70SYGELTYCTKH1Mus musculus
A70SYGELTHCTKL1Rattus norvegicus
D71YRELADCTWHM1Homo sapiens
D71YGELTYCTKHV1Mus musculus
D71YGELTHCTKLV1Rattus norvegicus
P85IGCFWPNPEVD2Mus musculus, Rattus norvegicus
P85LGCFWPNAEVD1Homo sapiens
R67TIRSYRELADC1Homo sapiens
R67TIQSYGELTYC1Mus musculus
R67TIGSYGELTHC1Rattus norvegicus
W74LADCTWHMAEK1Homo sapiens
W74LTYCTKHVAHT1Mus musculus
W74LTHCTKLVANK1Rattus norvegicus
W84KLGCFWPNAEV1Homo sapiens
W84TIGCFWPNPEV1Mus musculus
W84KIGCFWPNPEV1Rattus norvegicus


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