mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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	Gene Summary
	Ligand Binding Site Mutation Information
	Protein Structure Related Information
	Gene Expression and Gene-Gene Network
	Phenotype Information
	Pharmacological Information
	Conservation Information for LBS

Gene summary for C8A

Gene summary

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.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

GO ID	GO Term	PubMed ID
GO:0006956	complement activation	12413696

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Ligand binding site mutations for C8A

Cancer type specific mutLBS sorted by frequency

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

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
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)

Structure image for C8A from PDB

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Differential gene expression and gene-gene network for C8A

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)

* Left PPI network was created from samples with mutations in the LBS of C8A and the right PPI network was created from samples without mutations in the LBS of C8A. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.

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Phenotype information for C8A

Gene level disease information (DisGeNet)

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

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for C8A

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.