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mutLBSgeneDB |
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| Gene summary for C1QA |
 Gene summary |
| Basic gene Info. | Gene symbol | C1QA |
| Gene name | complement component 1, q subcomponent, A chain | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 1p36.12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_015991.2, | |
| Description | complement C1q subcomponent subunit Acomplement component 1, q subcomponent, alpha polypeptidecomplement component C1q, A chain | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 120550 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000173372 | ||
| HPRD : 00393 | ||
| Vega : OTTHUMG00000002893 | ||
| Protein | UniProt: P02745 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_C1QA | |
| BioGPS: 712 | ||
| Pathway | NCI Pathway Interaction Database: C1QA | |
| KEGG: C1QA | ||
| REACTOME: C1QA | ||
| Pathway Commons: C1QA | ||
| Context | iHOP: C1QA | |
| ligand binding site mutation search in PubMed: C1QA | ||
| UCL Cancer Institute: C1QA | ||
| 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 C1QA |
| 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 | Q199 | Q199L | LUAD | 1 | R184 | S186F | SKCM | 1 | D134 | D134N | UCEC | 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 C1QA |
| 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 | D134 | D134N | -1.4454783 | R184 | S186F | -0.77331921 | Q199 | Q199L | -0.27528004 |
| (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 C1QA from PDB |
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| Differential gene expression and gene-gene network for C1QA |
| 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 C1QA |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0024141 | Lupus Erythematosus, Systemic | 10 | Biomarker, GeneticVariation |
| umls:C0017661 | Glomerulonephritis, IGA | 2 | Biomarker |
| umls:C0015230 | Exanthema | 1 | Biomarker |
| umls:C0017662 | Glomerulonephritis, Membranoproliferative | 1 | Biomarker |
| umls:C0020951 | Immune Complex Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for C1QA |
| 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 C1QA 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 C1QA |
| Multiple alignments for P02745 in multiple species |
| LBS | AA sequence | # species | Species | D134 | NVVIFDTVITN | 1 | Homo sapiens | D134 | NVVIFDKVLTN | 1 | Mus musculus | D134 | NVVVFDKVLTN | 1 | Rattus norvegicus | D134 | NVVVFGKVITN | 1 | Bos taurus | F198 | TNKGLFQVVSG | 1 | Homo sapiens | F198 | NNKGLFQVLAG | 1 | Mus musculus | F198 | NSKGLFQVLAG | 1 | Rattus norvegicus | F198 | NSKGFFQVVSG | 1 | Bos taurus | H147 | EPYQNHSGRFV | 1 | Homo sapiens | H147 | SPYQNHTGRFI | 1 | Mus musculus | H147 | NPYQNRTGHFI | 1 | Rattus norvegicus | H147 | NVYQNNTGRFR | 1 | Bos taurus | N146 | EEPYQNHSGRF | 1 | Homo sapiens | N146 | ESPYQNHTGRF | 1 | Mus musculus | N146 | ENPYQNRTGHF | 1 | Rattus norvegicus | N146 | ENVYQNNTGRF | 1 | Bos taurus | P125 | IRRNPPMGGNV | 1 | Homo sapiens | P125 | IRQNPMTLGNV | 1 | Mus musculus | P125 | IRQNPPTYGNV | 1 | Rattus norvegicus | P125 | VGPNSVSRDNV | 1 | Bos taurus | Q182 | SSSRGQVRRSL | 1 | Homo sapiens | Q182 | SSSGGQPRDSL | 1 | Mus musculus | Q182 | SSSRGQPRNSL | 1 | Rattus norvegicus | Q182 | SSRRDQIQ-PL | 1 | Bos taurus | Q199 | NKGLFQVVSGG | 1 | Homo sapiens | Q199 | NKGLFQVLAGG | 1 | Mus musculus | Q199 | SKGLFQVLAGG | 1 | Rattus norvegicus | Q199 | SKGFFQVVSGG | 1 | Bos taurus | R184 | SRGQVRRSLGF | 1 | Homo sapiens | R184 | SGGQPRDSLSF | 1 | Mus musculus | R184 | SRGQPRNSLGF | 1 | Rattus norvegicus | R184 | RRDQIQ-PLGF | 1 | Bos taurus |
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