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 S100A16

Gene summary

Basic gene Info.	Gene symbol	S100A16
	Gene name	S100 calcium binding protein A16
	Synonyms	DT1P1A7\|S100F
	Cytomap	UCSC genome browser: 1q21
	Type of gene	protein-coding
	RefGenes	NM_080388.1,
	Description	S100 calcium-binding protein A16aging-associated gene 13 proteinaging-associated protein 13protein S100-A16protein S100-F
	Modification date	20141207
dbXrefs	HGNC : HGNC
	Ensembl : ENSG00000188643
	HPRD : 11529
	Vega : OTTHUMG00000013545
Protein	UniProt: Q96FQ6 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_S100A16
	BioGPS: 140576
Pathway	NCI Pathway Interaction Database: S100A16
	KEGG: S100A16
	REACTOME: S100A16
	Pathway Commons: S100A16
Context	iHOP: S100A16
	ligand binding site mutation search in PubMed: S100A16
	UCL Cancer Institute: S100A16
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 S100A16

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
R73	R73C	STAD	1
K32,L28	K30N	UCEC	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 S100A16

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
R73	R73C	-1.1056754
L28	K30N	-1.0984645
K32	K30N	-1.0984645

(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 S100A16 from PDB

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Differential gene expression and gene-gene network for S100A16

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 S100A16 and the right PPI network was created from samples without mutations in the LBS of S100A16. 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 S100A16

Gene level disease information (DisGeNet)

Disease ID

Disease name

# PubMed

Association type

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin