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 CGA
Gene summary
Basic gene Info.Gene symbolCGA
Gene nameglycoprotein hormones, alpha polypeptide
SynonymsCG-ALPHA|FSHA|GPHA1|GPHa|HCG|LHA|TSHA
CytomapUCSC genome browser: 6q12-q21
Type of geneprotein-coding
RefGenesNM_000735.3,
NM_001252383.1,
DescriptionFSH-alphaLSH-alphaTSH-alphaanterior pituitary glycoprotein hormones common subunit alphachoriogonadotropin alpha chainchorionic gonadotrophin subunit alphachorionic gonadotropin, alpha polypeptidefollicle-stimulating hormone alpha chainfollicle-st
Modification date20141207
dbXrefs MIM : 118850
HGNC : HGNC
Ensembl : ENSG00000135346
HPRD : 00342
Vega : OTTHUMG00000015161
ProteinUniProt: P01215
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CGA
BioGPS: 1081
PathwayNCI Pathway Interaction Database: CGA
KEGG: CGA
REACTOME: CGA
Pathway Commons: CGA
ContextiHOP: CGA
ligand binding site mutation search in PubMed: CGA
UCL Cancer Institute: CGA
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


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Ligand binding site mutations for CGA

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
T104A105VUCEC1
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 CGA
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
T104A105V-0.36673197
(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 CGA from PDB

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Differential gene expression and gene-gene network for CGA
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 CGA and the right PPI network was created from samples without mutations in the LBS of CGA. 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 CGA
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0001621Adrenal Gland Diseases1Therapeutic
umls:C0242656Disease Progression1Biomarker
umls:C0018991Hemiplegia1Biomarker
umls:C0028960Oligospermia1Therapeutic
umls:C0029928Ovarian Diseases1Therapeutic
umls:C2931367Thyroid cancer, follicular1Biomarker
umls:C0042131Uterine Diseases1Therapeutic

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

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Pharmacological information for CGA
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 CGA go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of CGA
Multiple alignments for P01215 in multiple species
LBSAA sequence# speciesSpecies
A47FSKLGAPIYQC2Mus musculus, Canis lupus familiaris
A47FSQPGAPILQC1Homo sapiens
A47FSKPDAPIYQC1Bos taurus
H103FKVENHTACHC1Homo sapiens
H103ARVENHTECHC1Mus musculus
H103VRVENHTECHC1Bos taurus
H103AKVENHTECHC1Canis lupus familiaris
I49KLGAPIYQCMG2Mus musculus, Canis lupus familiaris
I49QPGAPILQCMG1Homo sapiens
I49KPDAPIYQCMG1Bos taurus
L50LGAPIYQCMGC2Mus musculus, Canis lupus familiaris
L50PGAPILQCMGC1Homo sapiens
L50PDAPIYQCMGC1Bos taurus
N102GFKVENHTACH1Homo sapiens
N102NARVENHTECH1Mus musculus
N102NVRVENHTECH1Bos taurus
N102NAKVENHTECH1Canis lupus familiaris
N90VAKAFTKATVM3Mus musculus, Bos taurus, Canis lupus familiaris
N90VAKSYNRVTVM1Homo sapiens
P48SKLGAPIYQCM2Mus musculus, Canis lupus familiaris
P48SQPGAPILQCM1Homo sapiens
P48SKPDAPIYQCM1Bos taurus
T104RVENHTECHCS2Mus musculus, Bos taurus
T104KVENHTACHCS1Homo sapiens
T104KVENHTECHCS1Canis lupus familiaris
V92KAFTKATVMGN3Mus musculus, Bos taurus, Canis lupus familiaris
V92KSYNRVTVMGG1Homo sapiens


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