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 S100A6

Gene summary

Basic gene Info.	Gene symbol	S100A6
	Gene name	S100 calcium binding protein A6
	Synonyms	2A9\|5B10\|CABP\|CACY\|PRA
	Cytomap	UCSC genome browser: 1q21
	Type of gene	protein-coding
	RefGenes	NM_014624.3,
	Description	MLN 4S100 calcium-binding protein A6 (calcyclin)calcyclingrowth factor-inducible protein 2A9prolactin receptor-associated proteinprotein S100-A6
	Modification date	20141222
dbXrefs	MIM : 114110
	HGNC : HGNC
	Ensembl : ENSG00000197956
	HPRD : 00237
	Vega : OTTHUMG00000013549
Protein	UniProt: P06703 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_S100A6
	BioGPS: 6277
Pathway	NCI Pathway Interaction Database: S100A6
	KEGG: S100A6
	REACTOME: S100A6
	Pathway Commons: S100A6
Context	iHOP: S100A6
	ligand binding site mutation search in PubMed: S100A6
	UCL Cancer Institute: S100A6
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 S100A6

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
E67	E67K	BLCA	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 S100A6

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
E67	E67K	-1.5437394

(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 S100A6 from PDB

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Differential gene expression and gene-gene network for S100A6

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 S100A6 and the right PPI network was created from samples without mutations in the LBS of S100A6. 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 S100A6

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C0007097	Carcinoma	4	AlteredExpression, Biomarker
umls:C0025149	Medulloblastoma	1	Biomarker
umls:C0011853	Diabetes Mellitus, Experimental	1	Biomarker
umls:C0011860	Diabetes Mellitus, Type 2	1	Biomarker
umls:C0024667	Mammary Neoplasms, Animal	1	Biomarker
umls:C0024668	Mammary Neoplasms, Experimental	1	Biomarker
umls:C0751895	Vasospasm, Intracranial	1	Biomarker

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin

Phenotype IDs

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Pharmacological information for S100A6

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 S100A6 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
CA		CALCIUM(2+)	1k96	A	E67
CA		CALCIUM(2+)	1k9k	A	E67
CA		CALCIUM(2+)	1k9k	B	E67

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Conservation information for LBS of S100A6

Multiple alignments for P06703 in multiple species

LBS	AA sequence	# species	Species
D25	SGKEGDKHTLS	2	Mus musculus, Rattus norvegicus
D25	SGREGDKHTLS	1	Homo sapiens
D25	SGKEGDKNSLS	1	Gallus gallus
D61	LMEDLDRNKDQ	2	Homo sapiens, Gallus gallus
D61	LMDDLDRNKDQ	2	Mus musculus, Rattus norvegicus
D65	LDRNKDQEVNF	4	Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
E23	KYSGKEGDKHT	2	Mus musculus, Rattus norvegicus
E23	KYSGREGDKHT	1	Homo sapiens
E23	KYSGKEGDKNS	1	Gallus gallus
E33	TLSKKELKELI	3	Homo sapiens, Mus musculus, Rattus norvegicus
E33	SLSKGELKELI	1	Gallus gallus
E67	RNKDQEVNFQE	4	Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
E72	EVNFQEYVTFL	2	Homo sapiens, Gallus gallus
E72	EVNFQEYVAFL	2	Mus musculus, Rattus norvegicus
G24	YSGKEGDKHTL	2	Mus musculus, Rattus norvegicus
G24	YSGREGDKHTL	1	Homo sapiens
G24	YSGKEGDKNSL	1	Gallus gallus
N63	EDLDRNKDQEV	2	Homo sapiens, Gallus gallus
N63	DDLDRNKDQEV	2	Mus musculus, Rattus norvegicus
S20	IFHKYSGKEGD	2	Mus musculus, Rattus norvegicus
S20	IFHKYSGREGD	1	Homo sapiens
S20	TFHKYSGKEGD	1	Gallus gallus
T28	EGDKHTLSKKE	3	Homo sapiens, Mus musculus, Rattus norvegicus
T28	EGDKNSLSKGE	1	Gallus gallus