mutLBSgeneDB |
Gene summary for C8A |
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Basic gene Info. | Gene symbol | C8A |
Gene name | complement component 8, alpha polypeptide | |
Synonyms | - | |
Cytomap | UCSC genome browser: 1p32 | |
Type of gene | protein-coding | |
RefGenes | NM_000562.2, | |
Description | complement component 8 subunit alphacomplement component C8 alpha chain | |
Modification date | 20141207 | |
dbXrefs | MIM : 120950 | |
HGNC : HGNC | ||
Ensembl : ENSG00000157131 | ||
HPRD : 00409 | ||
Vega : OTTHUMG00000008306 | ||
Protein | UniProt: P07357 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_C8A | |
BioGPS: 731 | ||
Pathway | NCI Pathway Interaction Database: C8A | |
KEGG: C8A | ||
REACTOME: C8A | ||
Pathway Commons: C8A | ||
Context | iHOP: C8A | |
ligand binding site mutation search in PubMed: C8A | ||
UCL Cancer Institute: C8A | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
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GO ID | GO Term | PubMed ID | GO:0006956 | complement activation | 12413696 |
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Ligand binding site mutations for C8A |
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LBS | AAchange of nsSNV | Cancer type | # samples | D126 | G124S | COAD | 1 | D126 | S125C | LUAD | 1 | R59 | R59Q | OV | 1 | L491,N495 | E493K | SKCM | 1 | R59 | R59Q | 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 C8A |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | R59 | R59Q | -1.3681593 | D126 | S125C | -1.3080131 | D126 | G124S | -1.0975776 | L491 | E493K | -0.91152366 | N495 | E493K | -0.91152366 |
(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) |
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Differential gene expression and gene-gene network for C8A |
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Phenotype information for C8A |
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Disease ID | Disease name | # PubMed | Association type |
umls:C0021051 | Immunologic Deficiency Syndromes | 1 | Biomarker |
umls:C0025289 | Meningitis | 1 | Biomarker |
umls:C0085396 | Neisseriaceae Infections | 1 | Biomarker |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for C8A |
![]() 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 status | DrugBank ID | Name | Type | Drug structure |
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Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of C8A |
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LBS | AA sequence | # species | Species |
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