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 NFATC1

Gene summary

Basic gene Info.	Gene symbol	NFATC1
	Gene name	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
	Synonyms	NF-ATC\|NFAT2\|NFATc
	Cytomap	UCSC genome browser: 18q23
	Type of gene	protein-coding
	RefGenes	NM_001278669.1, NM_001278670.1,NM_001278672.1,NM_001278673.1,NM_001278675.1, NM_006162.4,NM_172387.2,NM_172388.2,NM_172389.2, NM_172390.2,
	Description	NFAT transcription complex cytosolic componentnuclear factor of activated T-cells, cytoplasmic 1
	Modification date	20141207
dbXrefs	MIM : 600489
	HGNC : HGNC
	Ensembl : ENSG00000131196
	HPRD : 02729
	Vega : OTTHUMG00000132897
Protein	UniProt: O95644 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_NFATC1
	BioGPS: 4772
Pathway	NCI Pathway Interaction Database: NFATC1
	KEGG: NFATC1
	REACTOME: NFATC1
	Pathway Commons: NFATC1
Context	iHOP: NFATC1
	ligand binding site mutation search in PubMed: NFATC1
	UCL Cancer Institute: NFATC1
Assigned class in mutLBSgeneDB	B: This gene belongs to targetable_mutLBSgenes.

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

GO ID	GO Term	PubMed ID
GO:0035556	intracellular signal transduction	14749367
GO:0045893	positive regulation of transcription, DNA-templated	14749367

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Ligand binding site mutations for NFATC1

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
K556	K556N	COAD	1
E445	T444M	COAD	1
K452	S454L	HNSC	1
A450	A450G	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 NFATC1

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
A450	A450G	-1.0921957
E445	T444M	-0.91975989
K452	S454L	-0.53405518
K556	K556N	-0.51106916

(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 NFATC1 from PDB

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Differential gene expression and gene-gene network for NFATC1

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 NFATC1 and the right PPI network was created from samples without mutations in the LBS of NFATC1. 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 NFATC1

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

Phenotype IDs

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Pharmacological information for NFATC1

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.