mutLBSgeneDB |
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) |
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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. |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Approved | DB00852 | Pseudoephedrine | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of NFATC1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of NFATC1 |
Multiple alignments for O95644 in multiple species |
LBS | AA sequence | # species | Species |
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