mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 C1QC
Gene summary
Basic gene Info.Gene symbolC1QC
Gene namecomplement component 1, q subcomponent, C chain
SynonymsC1Q-C|C1QG
CytomapUCSC genome browser: 1p36.11
Type of geneprotein-coding
RefGenesNM_001114101.1,
NM_172369.3,
Descriptioncomplement C1q subcomponent subunit Ccomplement component 1, q subcomponent, gamma polypeptide
Modification date20141221
dbXrefs MIM : 120575
HGNC : HGNC
Ensembl : ENSG00000159189
HPRD : 00395
Vega : OTTHUMG00000002891
ProteinUniProt: P02747
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_C1QC
BioGPS: 714
PathwayNCI Pathway Interaction Database: C1QC
KEGG: C1QC
REACTOME: C1QC
Pathway Commons: C1QC
ContextiHOP: C1QC
ligand binding site mutation search in PubMed: C1QC
UCL Cancer Institute: C1QC
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:0030853negative regulation of granulocyte differentiation10961870
GO:0045650negative regulation of macrophage differentiation10961870


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Ligand binding site mutations for C1QC
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
R139,N141F140LCOAD1
N141A142VGBM1
Y183R184CSKCM1
R139,N141F140LUCEC1
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 C1QC
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
N141A142V0.12243328
Y183R184C-1.3333192
N141F140L-0.85816496
R139F140L-0.85816496
(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 C1QC from PDB

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Differential gene expression and gene-gene network for C1QC
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 C1QC and the right PPI network was created from samples without mutations in the LBS of C1QC. 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 C1QC
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C3150902C1q DEFICIENCY1GeneticVariation

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

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Pharmacological information for C1QC

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ApprovedDB00002CetuximabBiotech
Approved|investigationalDB00005EtanerceptBiotech
ApprovedDB00051AdalimumabBiotech
ApprovedDB00054AbciximabBiotech
Approved|investigational|withdrawnDB00056Gemtuzumab ozogamicinBiotech
Approved|investigationalDB00072TrastuzumabBiotech
ApprovedDB00073RituximabBiotech
Approved|investigationalDB00074BasiliximabBiotech
Approved|investigationalDB00075MuromonabBiotech
ApprovedDB00078Ibritumomab tiuxetanBiotech
ApprovedDB00081TositumomabBiotech
Approved|investigationalDB00087AlemtuzumabBiotech
Approved|withdrawnDB00092AlefaceptBiotech
Approved|investigationalDB00095EfalizumabBiotech
Approved|investigationalDB00108NatalizumabBiotech
Approved|investigationalDB00110PalivizumabBiotech
Approved|investigationalDB00111DaclizumabBiotech
Approved|investigationalDB00112BevacizumabBiotech

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of C1QC go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of C1QC
Multiple alignments for P02747 in multiple species
LBSAA sequence# speciesSpecies
A220EEVWLAVNDYY1Homo sapiens
A220DEVWLSVNDYN1Mus musculus
A220DEVWLAVNDYN1Rattus norvegicus
G186LLYRSGVKVVT1Homo sapiens
G186HLNLNLARVAS1Mus musculus
G186QLLLNNAKVTS1Rattus norvegicus
K157DTSTGKFTCKV1Homo sapiens
K157NPSTGKFTCEV1Mus musculus
K157NTNTGKFTCKV1Rattus norvegicus
L137PAPNSLIRFNA1Homo sapiens
L137PEANALVRFNS1Mus musculus
L137PAANGLVKFNS1Rattus norvegicus
N141SLIRFNAVLTN1Homo sapiens
N141ALVRFNSVVTN1Mus musculus
N141GLVKFNSAITN1Rattus norvegicus
R126VFTVTRQTHQP1Homo sapiens
R126VFTVTRQTTQY1Mus musculus
R126VFTVTRQTAQY1Rattus norvegicus
R139PNSLIRFNAVL1Homo sapiens
R139ANALVRFNSVV1Mus musculus
R139ANGLVKFNSAI1Rattus norvegicus
S136PPAPNSLIRFN1Homo sapiens
S136YPEANALVRFN1Mus musculus
S136YPAANGLVKFN1Rattus norvegicus
T128TVTRQTHQPPA1Homo sapiens
T128TVTRQTTQYPE1Mus musculus
T128TVTRQTAQYPA1Rattus norvegicus
W218VGEEVWLAVND1Homo sapiens
W218RGDEVWLSVND1Mus musculus
W218RGDEVWLAVND1Rattus norvegicus
Y183LCVLLYRSGVK1Homo sapiens
Y183LCVHLNLNLAR1Mus musculus
Y183LCVQLLLNNAK1Rattus norvegicus


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