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mutLBSgeneDB |
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| Gene summary for C6 |
 Gene summary |
| Basic gene Info. | Gene symbol | C6 |
| Gene name | complement component 6 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 5p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000065.3, NM_001115131.2, | |
| Description | complement component C6 | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 217050 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000039537 | ||
| HPRD : 01956 | ||
| Vega : OTTHUMG00000094781 | ||
| Protein | UniProt: P13671 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_C6 | |
| BioGPS: 729 | ||
| Pathway | NCI Pathway Interaction Database: C6 | |
| KEGG: C6 | ||
| REACTOME: C6 | ||
| Pathway Commons: C6 | ||
| Context | iHOP: C6 | |
| ligand binding site mutation search in PubMed: C6 | ||
| UCL Cancer Institute: C6 | ||
| 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 C6 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R587 | R587Q | SKCM | 2 | R585 | S584L | UCEC | 2 | N162 | N162H | COAD | 1 | R585 | S584L | COAD | 1 | C601 | R600C | COAD | 1 | R46 | R48G | HNSC | 1 | R587 | E588Q | KIRC | 1 | C39 | C39Y | LUSC | 1 | E394 | E394K | SKCM | 1 | W571 | S573F | SKCM | 1 | R585 | S584L | SKCM | 1 | E170 | E170K | SKCM | 1 | R46 | S45N | STAD | 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 C6 |
| 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 | E170 | E170K | -1.1639338 | R587 | E588Q | -1.1626005 | E394 | E394K | -1.1429344 | N162 | N162H | -1.1341773 | R46 | R48G | -1.0561805 | R587 | R587Q | -0.9770184 | R46 | S45N | -0.87702779 | C39 | C39Y | -0.63533225 | W571 | S573F | -0.62959628 | C601 | R600C | -0.34401558 | R585 | S584L | -0.16216962 |
| (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 C6 from PDB |
| PDB ID | PDB title | PDB structure | 3T5O | Crystal Structure of human Complement Component C6 |  |
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| Differential gene expression and gene-gene network for C6 |
| 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 C6 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2676232 | Complement Component 6 Deficiency | 1 | Biomarker, GeneticVariation |
| umls:C0006663 | Calcinosis | 1 | Biomarker |
| umls:C0018824 | Heart Valve 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 C6 |
| 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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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of C6 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FUC | ALPHA-L-FUCOPYRANOSE | 4a5w | B | C39 | CA | CALCIUM(2+) | 4a5w | B | N162 | BMA | BETA-D-MANNOSE | 4a5w | B | R587 | BMA | BETA-D-MANNOSE | 4a5w | B | W571 |
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| Conservation information for LBS of C6 |
| Multiple alignments for P13671 in multiple species |
| LBS | AA sequence | # species | Species | A28 | FCDHYAWTQWT | 2 | Homo sapiens, Pan troglodytes | A28 | FCDHYPWTHWS | 1 | Rattus norvegicus | A28 | FCDHYPWSQWS | 1 | Bos taurus | A516 | LQEYAAKFDPC | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | A516 | FREYAAKFDPC | 1 | Bos taurus | C158 | ARKLECNGEND | 2 | Homo sapiens, Pan troglodytes | C158 | PSKLKCNGEND | 1 | Rattus norvegicus | C158 | ASKLECNGEND | 1 | Bos taurus | C39 | SCSKTCNSGTQ | 3 | Homo sapiens, Bos taurus, Pan troglodytes | C39 | SCSKSCNSGTQ | 1 | Rattus norvegicus | C521 | AKFDPCQCAPC | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | C521 | AKFDPCQCARC | 1 | Bos taurus | C570 | DGNWGCWSSWS | 2 | Rattus norvegicus, Bos taurus | C570 | DGQWGCWSSWS | 1 | Homo sapiens | C570 | DGHWGCWSSWS | 1 | Pan troglodytes | C601 | RGGKRCEGEKR | 2 | Homo sapiens, Pan troglodytes | C601 | RGGQRCEGKHW | 1 | Rattus norvegicus | C601 | QGGKRCEGERR | 1 | Bos taurus | D163 | CNGENDCGDNS | 4 | Homo sapiens, Rattus norvegicus, Bos taurus, Pan troglodytes | D169 | CGDNSDERDCG | 2 | Homo sapiens, Pan troglodytes | D169 | CGDNSDERNCG | 2 | Rattus norvegicus, Bos taurus | D172 | NSDERDCGRTK | 2 | Homo sapiens, Pan troglodytes | D172 | NSDERNCGRTK | 1 | Rattus norvegicus | D172 | NSDERNCGRKK | 1 | Bos taurus | D25 | QACFCDHYAWT | 2 | Homo sapiens, Pan troglodytes | D25 | EACFCDHYPWT | 1 | Rattus norvegicus | D25 | QACFCDHYPWS | 1 | Bos taurus | D519 | YAAKFDPCQCA | 4 | Homo sapiens, Rattus norvegicus, Bos taurus, Pan troglodytes | E161 | LECNGENDCGD | 3 | Homo sapiens, Bos taurus, Pan troglodytes | E161 | LKCNGENDCGD | 1 | Rattus norvegicus | E170 | GDNSDERDCGR | 2 | Homo sapiens, Pan troglodytes | E170 | GDNSDERNCGR | 2 | Rattus norvegicus, Bos taurus | E393 | NSGLTEEEAKH | 2 | Homo sapiens, Pan troglodytes | E393 | NSGLTEEETRN | 1 | Rattus norvegicus | E393 | NSGLTQEEAKN | 1 | Bos taurus | E394 | SGLTEEEAKHC | 2 | Homo sapiens, Pan troglodytes | E394 | SGLTEEETRNC | 1 | Rattus norvegicus | E394 | SGLTQEEAKNC | 1 | Bos taurus | E602 | GGKRCEGEKRQ | 2 | Homo sapiens, Pan troglodytes | E602 | GGQRCEGKHWQ | 1 | Rattus norvegicus | E602 | GGKRCEGERRQ | 1 | Bos taurus | G566 | SNAVDGNWGCW | 2 | Rattus norvegicus, Bos taurus | G566 | SNAVDGQWGCW | 1 | Homo sapiens | G566 | SNAVDGHWGCW | 1 | Pan troglodytes | L156 | CIARKLECNGE | 2 | Homo sapiens, Pan troglodytes | L156 | CIPSKLKCNGE | 1 | Rattus norvegicus | L156 | CIASKLECNGE | 1 | Bos taurus | N159 | RKLECNGENDC | 2 | Homo sapiens, Pan troglodytes | N159 | SKLKCNGENDC | 1 | Rattus norvegicus | N159 | SKLECNGENDC | 1 | Bos taurus | N162 | ECNGENDCGDN | 3 | Homo sapiens, Bos taurus, Pan troglodytes | N162 | KCNGENDCGDN | 1 | Rattus norvegicus | Q31 | HYAWTQWTSCS | 2 | Homo sapiens, Pan troglodytes | Q31 | HYPWTHWSSCS | 1 | Rattus norvegicus | Q31 | HYPWSQWSSCS | 1 | Bos taurus | Q567 | NAVDGNWGCWS | 2 | Rattus norvegicus, Bos taurus | Q567 | NAVDGQWGCWS | 1 | Homo sapiens | Q567 | NAVDGHWGCWS | 1 | Pan troglodytes | R46 | SGTQSRHRQIV | 2 | Homo sapiens, Pan troglodytes | R46 | SGTQSRQRQIV | 1 | Rattus norvegicus | R46 | SGTQTRQRRIV | 1 | Bos taurus | R585 | TYKRSRTRECN | 2 | Homo sapiens, Pan troglodytes | R585 | AYRRSRSRECN | 1 | Rattus norvegicus | R585 | TYRRSRTRECN | 1 | Bos taurus | R587 | KRSRTRECNNP | 2 | Homo sapiens, Pan troglodytes | R587 | RRSRSRECNNP | 1 | Rattus norvegicus | R587 | RRSRTRECNNP | 1 | Bos taurus | R71 | SKQETRECNWQ | 2 | Homo sapiens, Pan troglodytes | R71 | TKQETRQCNVE | 1 | Rattus norvegicus | R71 | TKQESRECNWQ | 1 | Bos taurus | T38 | TSCSKTCNSGT | 2 | Homo sapiens, Pan troglodytes | T38 | SSCSKSCNSGT | 1 | Rattus norvegicus | T38 | SSCSKTCNSGT | 1 | Bos taurus | T392 | KNSGLTEEEAK | 2 | Homo sapiens, Pan troglodytes | T392 | QNSGLTEEETR | 1 | Rattus norvegicus | T392 | KNSGLTQEEAK | 1 | Bos taurus | W29 | CDHYAWTQWTS | 2 | Homo sapiens, Pan troglodytes | W29 | CDHYPWTHWSS | 1 | Rattus norvegicus | W29 | CDHYPWSQWSS | 1 | Bos taurus | W32 | YAWTQWTSCSK | 2 | Homo sapiens, Pan troglodytes | W32 | YPWTHWSSCSK | 1 | Rattus norvegicus | W32 | YPWSQWSSCSK | 1 | Bos taurus | W568 | AVDGNWGCWSS | 2 | Rattus norvegicus, Bos taurus | W568 | AVDGQWGCWSS | 1 | Homo sapiens | W568 | AVDGHWGCWSS | 1 | Pan troglodytes | W571 | GQWGCWSSWST | 1 | Homo sapiens | W571 | GNWGCWSSWSA | 1 | Rattus norvegicus | W571 | GNWGCWSSWSS | 1 | Bos taurus | W571 | GHWGCWSSWST | 1 | Pan troglodytes |
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