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mutLBSgeneDB |
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| Gene summary for C1QB |
 Gene summary |
| Basic gene Info. | Gene symbol | C1QB |
| Gene name | complement component 1, q subcomponent, B chain | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 1p36.12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000491.3, | |
| Description | complement C1q subcomponent subunit Bcomplement component 1, q subcomponent, beta polypeptidecomplement component C1q, B chaincomplement subcomponent C1q chain B | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 120570 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000173369 | ||
| HPRD : 00394 | ||
| Vega : OTTHUMG00000002896 | ||
| Protein | UniProt: P02746 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_C1QB | |
| BioGPS: 713 | ||
| Pathway | NCI Pathway Interaction Database: C1QB | |
| KEGG: C1QB | ||
| REACTOME: C1QB | ||
| Pathway Commons: C1QB | ||
| Context | iHOP: C1QB | |
| ligand binding site mutation search in PubMed: C1QB | ||
| UCL Cancer Institute: C1QB | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for C1QB |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D199 | D199Y | LUSC | 1 |
| 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 C1QB |
| 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | D199 | D199Y | -0.79253077 |
| (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 C1QB from PDB |
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| Differential gene expression and gene-gene network for C1QB |
| 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) |
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| Phenotype information for C1QB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3150902 | C1q DEFICIENCY | 1 | GeneticVariation |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| umls:C0021051 | Immunologic Deficiency Syndromes | 1 | Biomarker |
| umls:C0151744 | Myocardial Ischemia | 1 | Biomarker |
| umls:C0029927 | Ovarian Cysts | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for C1QB |
| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00002 | Cetuximab | Biotech |  |
| Approved|investigational | DB00005 | Etanercept | Biotech |  |
| Approved | DB00051 | Adalimumab | Biotech |  |
| Approved | DB00054 | Abciximab | Biotech |  |
| Approved|investigational|withdrawn | DB00056 | Gemtuzumab ozogamicin | Biotech |  |
| Approved|investigational | DB00072 | Trastuzumab | Biotech |  |
| Approved | DB00073 | Rituximab | Biotech |  |
| Approved|investigational | DB00074 | Basiliximab | Biotech |  |
| Approved|investigational | DB00075 | Muromonab | Biotech |  |
| Approved | DB00078 | Ibritumomab tiuxetan | Biotech |  |
| Approved | DB00081 | Tositumomab | Biotech |  |
| Approved|investigational | DB00087 | Alemtuzumab | Biotech |  |
| Approved|withdrawn | DB00092 | Alefacept | Biotech |  |
| Approved|investigational | DB00095 | Efalizumab | Biotech |  |
| Approved|investigational | DB00108 | Natalizumab | Biotech |  |
| Approved|investigational | DB00110 | Palivizumab | Biotech |  |
| Approved|investigational | DB00111 | Daclizumab | Biotech |  |
| Approved|investigational | DB00112 | Bevacizumab | Biotech |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of C1QB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of C1QB |
| Multiple alignments for P02746 in multiple species |
| LBS | AA sequence | # species | Species | D199 | VVTFCDYAYNT | 1 | Homo sapiens | D199 | VVTFCDYVQNT | 1 | Bos taurus | D199 | VVTFCDYAQNT | 1 | Mus musculus | D199 | VLTFCDYAQNT | 1 | Rattus norvegicus | Q206 | AQNTFQVTTGG | 2 | Mus musculus, Rattus norvegicus | Q206 | AYNTFQVTTGG | 1 | Homo sapiens | Q206 | VQNTFQVTTGS | 1 | Bos taurus | Y200 | VTFCDYAYNTF | 1 | Homo sapiens | Y200 | VTFCDYVQNTF | 1 | Bos taurus | Y200 | VTFCDYAQNTF | 1 | Mus musculus | Y200 | LTFCDYAQNTF | 1 | Rattus norvegicus |
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