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mutLBSgeneDB |
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| Gene summary for SERPINB3 |
 Gene summary |
| Basic gene Info. | Gene symbol | SERPINB3 |
| Gene name | serpin peptidase inhibitor, clade B (ovalbumin), member 3 | |
| Synonyms | HsT1196|SCC|SCCA-1|SCCA-PD|SCCA1|T4-A | |
| Cytomap | UCSC genome browser: 18q21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006919.2, | |
| Description | protein T4-Aserine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3serpin B3squamous cell carcinoma antigen 1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 600517 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000057149 | ||
| HPRD : 02745 | ||
| Vega : OTTHUMG00000060403 | ||
| Protein | UniProt: P29508 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SERPINB3 | |
| BioGPS: 6317 | ||
| Pathway | NCI Pathway Interaction Database: SERPINB3 | |
| KEGG: SERPINB3 | ||
| REACTOME: SERPINB3 | ||
| Pathway Commons: SERPINB3 | ||
| Context | iHOP: SERPINB3 | |
| ligand binding site mutation search in PubMed: SERPINB3 | ||
| UCL Cancer Institute: SERPINB3 | ||
| 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:0009615 | response to virus | 12975381 | GO:0010466 | negative regulation of peptidase activity | 12949073 | GO:0043086 | negative regulation of catalytic activity | 10956412 | GO:0045861 | negative regulation of proteolysis | 12975381 |
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| Ligand binding site mutations for SERPINB3 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D281 | D281N | GBM | 1 | E277 | R276S | LUAD | 1 | H220 | H220Y | SKCM | 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 SERPINB3 |
| 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 | E277 | R276S | -1.2812024 | H220 | H220Y | -0.78299177 | D281 | D281N | -0.62488734 |
| (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 SERPINB3 from PDB |
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| Differential gene expression and gene-gene network for SERPINB3 |
| 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 SERPINB3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007137 | Carcinoma, Squamous Cell | 21 | AlteredExpression, Biomarker |
| umls:C0014859 | Esophageal Neoplasms | 2 | AlteredExpression, Biomarker |
| umls:C0000786 | Abortion, Spontaneous | 1 | Biomarker |
| umls:C0279626 | Esophageal Squamous Cell Carcinoma | 1 | Biomarker |
| umls:C0026640 | Mouth Neoplasms | 1 | Biomarker |
| umls:C0032927 | Precancerous Conditions | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SERPINB3 |
| 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 |
| Experimental | DB03929 | D-Serine | Small molecule |  |
| Experimental | DB04522 | Phosphonoserine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SERPINB3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 4zk0 | A | D281 | ZN | ZINC(2+) | 4zk0 | A | H220 E277 |
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| Conservation information for LBS of SERPINB3 |
| Multiple alignments for P29508 in multiple species |
| LBS | AA sequence | # species | Species |
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