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mutLBSgeneDB |
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| Gene summary for TNFAIP3 |
 Gene summary |
| Basic gene Info. | Gene symbol | TNFAIP3 |
| Gene name | tumor necrosis factor, alpha-induced protein 3 | |
| Synonyms | A20|OTUD7C|TNFA1P2 | |
| Cytomap | UCSC genome browser: 6q23 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001270507.1, NM_001270508.1,NM_006290.3, | |
| Description | OTU domain-containing protein 7CTNF alpha-induced protein 3putative DNA-binding protein A20tumor necrosis factor alpha-induced protein 3tumor necrosis factor inducible protein A20zinc finger protein A20 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 191163 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000118503 | ||
| HPRD : 01857 | ||
| Vega : OTTHUMG00000015664 | ||
| Protein | UniProt: P21580 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TNFAIP3 | |
| BioGPS: 7128 | ||
| Pathway | NCI Pathway Interaction Database: TNFAIP3 | |
| KEGG: TNFAIP3 | ||
| REACTOME: TNFAIP3 | ||
| Pathway Commons: TNFAIP3 | ||
| Context | iHOP: TNFAIP3 | |
| ligand binding site mutation search in PubMed: TNFAIP3 | ||
| UCL Cancer Institute: TNFAIP3 | ||
| 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:0002237 | response to molecule of bacterial origin | 19912257 | GO:0031397 | negative regulation of protein ubiquitination | 20392859 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 18223652 | GO:0034140 | negative regulation of toll-like receptor 3 signaling pathway | 15474016 | GO:0035871 | protein K11-linked deubiquitination | 23827681 | GO:0043124 | negative regulation of I-kappaB kinase/NF-kappaB signaling | 11463333 | GO:0045732 | positive regulation of protein catabolic process | 21127049 | GO:0048662 | negative regulation of smooth muscle cell proliferation | 16816117 | GO:0070536 | protein K63-linked deubiquitination | 15258597 | GO:0070936 | protein K48-linked ubiquitination | 15258597 | GO:0071108 | protein K48-linked deubiquitination | 23827681 | GO:0071222 | cellular response to lipopolysaccharide | 19912257 | GO:1902042 | negative regulation of extrinsic apoptotic signaling pathway via death domain receptors | 12167698 | GO:2000352 | negative regulation of endothelial cell apoptotic process | 12885753 |
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| Ligand binding site mutations for TNFAIP3 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | C782 | E781G | COAD | 1 | E300 | L302P | COAD | 1 | C782 | E781A | COAD | 1 | C612 | Y614C | HNSC | 1 | C624 | G622C | LUSC | 1 | C612 | G611S | LUSC | 1 | C779 | Y778C | LUSC | 1 | C782 | E781K | SKCM | 1 | C762 | A764V | 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 TNFAIP3 |
| 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 | C779 | Y778C | -1.4008684 | E300 | L302P | -1.3098753 | C612 | G611S | -1.1344357 | C624 | G622C | -1.0588031 | C782 | E781G | -0.91434907 | C782 | E781A | -0.89824406 | C782 | E781K | -0.69166303 | C612 | Y614C | -0.67291849 | C762 | A764V | -0.2969068 |
| (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 TNFAIP3 from PDB |
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| Differential gene expression and gene-gene network for TNFAIP3 |
| 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 TNFAIP3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0003873 | Arthritis, Rheumatoid | 35 | Biomarker, GeneticVariation |
| umls:C0024141 | Lupus Erythematosus, Systemic | 28 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0033860 | Psoriasis | 11 | Biomarker, GeneticVariation |
| umls:C0026769 | Multiple Sclerosis | 3 | Biomarker, GeneticVariation |
| umls:C1527336 | Sjogren's Syndrome | 2 | Biomarker |
| umls:C0007621 | Cell Transformation, Neoplastic | 1 | Biomarker |
| umls:C0024301 | Lymphoma, Follicular | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for TNFAIP3 |
| 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 TNFAIP3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3oj3 | I | C612 C624 | ZN | ZINC(2+) | 3oj3 | J | C612 C624 | ZN | ZINC(2+) | 3oj3 | K | C612 C624 | ZN | ZINC(2+) | 3oj3 | L | C612 C624 | ZN | ZINC(2+) | 3oj3 | M | C612 C624 | ZN | ZINC(2+) | 3oj3 | N | C612 C624 | ZN | ZINC(2+) | 3oj3 | O | C612 C624 | ZN | ZINC(2+) | 3oj3 | P | C612 C624 | ZN | ZINC(2+) | 3oj4 | C | C612 C624 | ZN | ZINC(2+) | 3oj4 | F | C612 C624 | ZN | ZINC(2+) | 3vuw | E | C762 C779 C782 | ZN | ZINC(2+) | 3vuw | F | C762 C779 C782 | ZN | ZINC(2+) | 3vuw | G | C762 C779 C782 | ZN | ZINC(2+) | 3vux | E | C762 C779 C782 | ZN | ZINC(2+) | 3vux | F | C762 C779 C782 | ZN | ZINC(2+) | 3vux | G | C762 C779 C782 | ZN | ZINC(2+) | 3vuy | D | C762 C779 C782 | ZN | ZINC(2+) | 3vuy | F | C762 C779 C782 | ZN | ZINC(2+) | 3vuy | E | C762 C779 C782 | MG | MAGNESIUM(2+) | 2vfj | D | E300 |
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| Conservation information for LBS of TNFAIP3 |
| Multiple alignments for P21580 in multiple species |
| LBS | AA sequence | # species | Species |
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