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mutLBSgeneDB |
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| Gene summary for NCF4 |
 Gene summary |
| Basic gene Info. | Gene symbol | NCF4 |
| Gene name | neutrophil cytosolic factor 4, 40kDa | |
| Synonyms | NCF|P40PHOX|SH3PXD4 | |
| Cytomap | UCSC genome browser: 22q13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000631.4, NM_013416.3, | |
| Description | NCF-4SH3 and PX domain-containing protein 4neutrophil NADPH oxidase factor 4neutrophil cytosol factor 4p40-phox | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 601488 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000100365 | ||
| HPRD : 03289 | ||
| Vega : OTTHUMG00000150548 | ||
| Protein | UniProt: Q15080 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NCF4 | |
| BioGPS: 4689 | ||
| Pathway | NCI Pathway Interaction Database: NCF4 | |
| KEGG: NCF4 | ||
| REACTOME: NCF4 | ||
| Pathway Commons: NCF4 | ||
| Context | iHOP: NCF4 | |
| ligand binding site mutation search in PubMed: NCF4 | ||
| UCL Cancer Institute: NCF4 | ||
| 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 NCF4 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | I203 | I203M | BLCA | 1 | Y94 | Y94D | COAD | 1 | S222 | S222F | SKCM | 1 | R58 | R58H | 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 NCF4 |
| 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 |
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| 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 | I203 | I203M | -1.590415 | R58 | R58H | -1.1149734 | Y94 | Y94D | -1.0800532 | S222 | S222F | -0.49673412 |
| (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 NCF4 from PDB |
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| Differential gene expression and gene-gene network for NCF4 |
| 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 NCF4 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0010346 | Crohn Disease | 5 | Biomarker, GeneticVariation |
| umls:C3151409 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III | 1 | GeneticVariation |
| umls:C0018799 | Heart Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for NCF4 |
| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of NCF4 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ACE,LYS,PRO,GLN,PRO,ALA,VAL,PRO,PRO,ARG,PRO) | 1w70 | B | I203 S222 | PIB | D-MYO-PHOSPHATIDYLINOSITOL 3-PHOSPHATED (+)-SN-1,2-DI-O-BUTANOYLGLYCERYL,3-O-PHOSPHO | 1h6h | A | R58 Y94 |
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| Conservation information for LBS of NCF4 |
| Multiple alignments for Q15080 in multiple species |
| LBS | AA sequence | # species | Species |
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