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mutLBSgeneDB |
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| Gene summary for NFKB1 |
 Gene summary |
| Basic gene Info. | Gene symbol | NFKB1 |
| Gene name | nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 | |
| Synonyms | EBP-1|KBF1|NF-kB1|NF-kappa-B|NF-kappaB|NFKB-p105|NFKB-p50|NFkappaB|p105|p50 | |
| Cytomap | UCSC genome browser: 4q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001165412.1, NM_003998.3, | |
| Description | DNA binding factor KBF1DNA-binding factor KBF1NF-kappabetanuclear factor NF-kappa-B p105 subunitnuclear factor NF-kappa-B p50 subunitnuclear factor kappa-B DNA binding subunit | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 164011 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000109320 | ||
| HPRD : 01238 | ||
| Vega : OTTHUMG00000161080 | ||
| Protein | UniProt: P19838 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NFKB1 | |
| BioGPS: 4790 | ||
| Pathway | NCI Pathway Interaction Database: NFKB1 | |
| KEGG: NFKB1 | ||
| REACTOME: NFKB1 | ||
| Pathway Commons: NFKB1 | ||
| Context | iHOP: NFKB1 | |
| ligand binding site mutation search in PubMed: NFKB1 | ||
| UCL Cancer Institute: NFKB1 | ||
| 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 | GO:0010956 | negative regulation of calcidiol 1-monooxygenase activity | 15243130 | GO:0045893 | positive regulation of transcription, DNA-templated | 17426251 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 1406630 | GO:1900127 | positive regulation of hyaluronan biosynthetic process | 17324121 |
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| Ligand binding site mutations for NFKB1 |
| 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 | P245,K243 | A244T | BRCA | 1 | R56 | R56C | COAD | 1 | G67 | L69P | COAD | 1 | K277 | D279Y | UCEC | 1 | Q308 | F309L | UCEC | 1 | R307 | R307I | 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 NFKB1 |
| 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 | R307 | R307I | 0.010448835 | G67 | L69P | -1.1199768 | K277 | D279Y | -1.1047014 | P245 | A244T | -0.84376518 | K243 | A244T | -0.84376518 | Q308 | F309L | -0.66148463 | R56 | R56C | -0.43689829 |
| (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 NFKB1 from PDB |
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| Differential gene expression and gene-gene network for NFKB1 |
| 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 NFKB1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0011860 | Diabetes Mellitus, Type 2 | 10 | Biomarker, GeneticVariation |
| umls:C0009375 | Colonic Neoplasms | 9 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0001418 | Adenocarcinoma | 8 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0022661 | Kidney Failure, Chronic | 3 | Biomarker |
| umls:C0007786 | Brain Ischemia | 2 | Biomarker, Therapeutic |
| umls:C0023895 | Liver Diseases | 2 | GeneticVariation, Therapeutic |
| umls:C0023892 | Liver Cirrhosis, Biliary | 1 | Biomarker, GeneticVariation |
| umls:C0007621 | Cell Transformation, Neoplastic | 1 | Therapeutic |
| umls:C0018843 | Heat Stroke | 1 | Biomarker |
| umls:C0020500 | Hyperoxaluria | 1 | Biomarker |
| umls:C0029927 | Ovarian Cysts | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for NFKB1 |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|investigational|withdrawn | DB01041 | Thalidomide | Small molecule |  |
| Approved | DB01411 | Pranlukast | Small molecule |  |
| Investigational | DB05212 | HE3286 | Small molecule |  |
| Investigational | DB05451 | P54 | Small molecule |  |
| Investigational | DB05464 | NOX-700 | Small molecule |  |
| Investigational | DB05471 | SGN-30 | Biotech |  |
| Investigational | DB05487 | CC-8490 | Small molecule |  |
| Investigational | DB05767 | HMPL-004 | Small molecule |  |
| Approved | DB08814 | Triflusal | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of NFKB1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 2o61 | B | R56 |
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| Conservation information for LBS of NFKB1 |
| Multiple alignments for P19838 in multiple species |
| LBS | AA sequence | # species | Species | C61 | RFRYVCEGPSH | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | E62 | FRYVCEGPSHG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | G67 | EGPSHGGLPGA | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | H143 | NLGILHVTKKK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | H66 | CEGPSHGGLPG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | K146 | ILHVTKKKVFE | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | K243 | AIYDSKAPNAS | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | K274 | YLLCDKVQKDD | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | K277 | CDKVQKDDIQI | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | N138 | VVGFANLGILH | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | P245 | YDSKAPNASNL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | Q276 | LCDKVQKDDIQ | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | Q308 | TDVHRQFAIVF | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | R307 | PTDVHRQFAIV | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | R56 | KQRGFRFRYVC | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | R58 | RGFRFRYVCEG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | S65 | VCEGPSHGGLP | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | T145 | GILHVTKKKVF | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris | Y59 | GFRFRYVCEGP | 4 | Homo sapiens, Gallus gallus, Mus musculus, Canis lupus familiaris |
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