|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for C8B |
 Gene summary |
| Basic gene Info. | Gene symbol | C8B |
| Gene name | complement component 8, beta polypeptide | |
| Synonyms | C82 | |
| Cytomap | UCSC genome browser: 1p32.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000066.3, NM_001278543.1,NM_001278544.1, | |
| Description | complement component 8 subunit betacomplement component C8 beta chain | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 120960 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000021852 | ||
| HPRD : 00410 | ||
| Vega : OTTHUMG00000008305 | ||
| Protein | UniProt: P07358 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_C8B | |
| BioGPS: 732 | ||
| Pathway | NCI Pathway Interaction Database: C8B | |
| KEGG: C8B | ||
| REACTOME: C8B | ||
| Pathway Commons: C8B | ||
| Context | iHOP: C8B | |
| ligand binding site mutation search in PubMed: C8B | ||
| UCL Cancer Institute: C8B | ||
| 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 |
| Top |
| Ligand binding site mutations for C8B |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | C503,S501 | S502F | SKCM | 2 | K498 | E499K | SKCM | 2 | L138 | L138R | STAD | 2 | K562,R560 | R561C | UCEC | 2 | S69 | S69R | COAD | 1 | R85 | A87T | COAD | 1 | R85 | A87S | COAD | 1 | C503,S501 | S502F | COAD | 1 | R560 | G559E | GBM | 1 | C550 | W548C | KIRC | 1 | W551 | W551C | LUAD | 1 | Q497 | E495D | LUAD | 1 | W551 | W551C | LUSC | 1 | W554 | S556A | SKCM | 1 | W73 | S72F | SKCM | 1 | L138 | L138F | SKCM | 1 | N141,D143 | G142E | SKCM | 1 | R83 | K81N | SKCM | 1 | Q497 | E495K | STAD | 1 | D143 | D143A | 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. |
| Top |
| Protein structure related information for C8B |
| 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. |
| LBS | AAchange of nsSNV | Relative stability change | R560 | G559E | 0.26876375 | L138 | L138R | -1.6600517 | L138 | L138F | -1.6208522 | D143 | D143A | -1.1409772 | Q497 | E495D | -1.1189744 | Q497 | E495K | -1.1074476 | W551 | W551C | -1.0907531 | N141 | G142E | -0.98644029 | D143 | G142E | -0.98644029 | R83 | K81N | -0.83858177 | R85 | A87S | -0.83462605 | C550 | W548C | -0.83151127 | W554 | S556A | -0.80750285 | R85 | A87T | -0.69835845 | K498 | E499K | -0.69395687 | R560 | R561C | -0.65737723 | K562 | R561C | -0.65737723 | W73 | S72F | -0.65419756 | S69 | S69R | -0.48661046 | C503 | S502F | -0.16524267 | S501 | S502F | -0.16524267 |
| (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 C8B from PDB |
| PDB ID | PDB title | PDB structure | 3OJY | Crystal Structure of Human Complement Component C8 |  |
| Top |
| Differential gene expression and gene-gene network for C8B |
| 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) |
| Top |
| Top |
| Phenotype information for C8B |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3151080 | COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II | 2 | Biomarker, GeneticVariation |
| umls:C3495559 | Arthritis, Juvenile | 1 | Biomarker |
| umls:C0021051 | Immunologic Deficiency Syndromes | 1 | Biomarker |
| umls:C0025289 | Meningitis | 1 | Biomarker |
| umls:C0085396 | Neisseriaceae Infections | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for C8B |
| 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 status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of C8B go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
| Top |
| Conservation information for LBS of C8B |
| Multiple alignments for P07358 in multiple species |
| LBS | AA sequence | # species | Species | C503 | KEVSSCHCAPC | 1 | Homo sapiens | C503 | SEVSSCRCAPC | 1 | Mus musculus | C503 | MEVSSCRCAPC | 1 | Rattus norvegicus | C550 | DGKWSCWSDWS | 2 | Mus musculus, Rattus norvegicus | C550 | DGKWNCWSNWS | 1 | Homo sapiens | D143 | LLCNGDNDCGD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D145 | CNGDNDCGDQS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D151 | CGDQSDEANCR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E152 | GDQSDEANCRR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K498 | LEEFQKEVSSC | 1 | Homo sapiens | K498 | LEEFQSEVSSC | 1 | Mus musculus | K498 | LEEFQMEVSSC | 1 | Rattus norvegicus | K562 | CSGRRKTRQRQ | 1 | Homo sapiens | K562 | CSGGHKTRHRQ | 1 | Mus musculus | K562 | CSGGRKTRQRQ | 1 | Rattus norvegicus | L138 | CVNRRLLCNGD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N141 | RRLLCNGDNDC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q497 | ALEEFQKEVSS | 1 | Homo sapiens | Q497 | ALEEFQSEVSS | 1 | Mus musculus | Q497 | ALEEFQMEVSS | 1 | Rattus norvegicus | R560 | SSCSGRRKTRQ | 1 | Homo sapiens | R560 | SACSGGHKTRH | 1 | Mus musculus | R560 | SPCSGGRKTRQ | 1 | Rattus norvegicus | R83 | PCQKKRYRHTY | 2 | Mus musculus, Rattus norvegicus | R83 | PCQKKRYRYAY | 1 | Homo sapiens | R85 | QKKRYRHTYLL | 2 | Mus musculus, Rattus norvegicus | R85 | QKKRYRYAYLL | 1 | Homo sapiens | S501 | FQKEVSSCHCA | 1 | Homo sapiens | S501 | FQSEVSSCRCA | 1 | Mus musculus | S501 | FQMEVSSCRCA | 1 | Rattus norvegicus | S69 | DCELSSWSSWT | 1 | Homo sapiens | S69 | DCELSTWSSWT | 1 | Mus musculus | S69 | DCQLSTWSSWT | 1 | Rattus norvegicus | W551 | GKWNCWSNWSS | 1 | Homo sapiens | W551 | GKWSCWSDWSA | 1 | Mus musculus | W551 | GKWSCWSDWSP | 1 | Rattus norvegicus | W554 | NCWSNWSSCSG | 1 | Homo sapiens | W554 | SCWSDWSACSG | 1 | Mus musculus | W554 | SCWSDWSPCSG | 1 | Rattus norvegicus | W70 | CELSSWSSWTT | 1 | Homo sapiens | W70 | CELSTWSSWTA | 1 | Mus musculus | W70 | CQLSTWSSWTA | 1 | Rattus norvegicus | W73 | STWSSWTACDP | 2 | Mus musculus, Rattus norvegicus | W73 | SSWSSWTTCDP | 1 | Homo sapiens |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |