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mutLBSgeneDB |
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| Gene summary for SERPINA3 |
 Gene summary |
| Basic gene Info. | Gene symbol | SERPINA3 |
| Gene name | serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 | |
| Synonyms | AACT|ACT|GIG25 | |
| Cytomap | UCSC genome browser: 14q32.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001085.4, | |
| Description | alpha-1-antichymotrypsincell growth-inhibiting gene 24/25 proteingrowth-inhibiting protein 24growth-inhibiting protein 25serine (or cysteine) proteinase inhibitor, clade A, member 3serpin A3 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 107280 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000196136 | ||
| Ensembl : ENSG00000273259 | ||
| HPRD : 00120 | ||
| Vega : OTTHUMG00000029851 | ||
| Protein | UniProt: P01011 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SERPINA3 | |
| BioGPS: 12 | ||
| Pathway | NCI Pathway Interaction Database: SERPINA3 | |
| KEGG: SERPINA3 | ||
| REACTOME: SERPINA3 | ||
| Pathway Commons: SERPINA3 | ||
| Context | iHOP: SERPINA3 | |
| ligand binding site mutation search in PubMed: SERPINA3 | ||
| UCL Cancer Institute: SERPINA3 | ||
| 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 SERPINA3 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F413 | F413L | LUAD | 2 | S415 | S415G | COAD | 1 | S415 | S415R | OV | 1 | L363 | L363R | 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 SERPINA3 |
| 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 | S415 | S415G | -1.0678261 | L363 | L363R | -0.97905959 | F413 | F413L | -0.88263967 | S415 | S415R | -0.64341466 |
| (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 SERPINA3 from PDB |
| PDB ID | PDB title | PDB structure | 3DLW | Antichymotrypsin |  |
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| Differential gene expression and gene-gene network for SERPINA3 |
| 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 SERPINA3 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0023794 | Lipidoses | 3 | Biomarker |
| umls:C0033578 | Prostatic Neoplasms | 1 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SERPINA3 |
| 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 SERPINA3 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 SERPINA3 |
| Multiple alignments for P01011 in multiple species |
| LBS | AA sequence | # species | Species | F413 | TQSIIFLGKVT | 3 | Bos taurus, Bos taurus, Bos taurus | F413 | TQNIFFMSKVT | 1 | Homo sapiens | F413 | TAIAPFLAKIF | 1 | Rattus norvegicus | F413 | VQTTLFIAKIT | 1 | Mus musculus | F413 | VQTTLFMAKVT | 1 | Mus musculus | F413 | AQSILFMAKVN | 1 | Mus musculus | I403 | PFLIAIVLKDT | 2 | Bos taurus, Bos taurus | I403 | PFLMIIVPTDT | 1 | Homo sapiens | I403 | PFLMIISDTET | 1 | Rattus norvegicus | I403 | TFLMVISHTDV | 1 | Mus musculus | I403 | PFLMVISHTGV | 1 | Mus musculus | I403 | PFLFVIYHTSA | 1 | Mus musculus | I403 | PFLIAVVLKDT | 1 | Bos taurus | L363 | VHKAVLDVAET | 4 | Rattus norvegicus, Mus musculus, Mus musculus, Mus musculus | L363 | VHGAALDVDEE | 2 | Bos taurus, Bos taurus | L363 | VHKAVLDVFEE | 1 | Homo sapiens | L363 | VHKAVLDVGEE | 1 | Bos taurus | M401 | NRPFLIAIVLK | 2 | Bos taurus, Bos taurus | M401 | NRPFLMIIVPT | 1 | Homo sapiens | M401 | DRPFLMIISDT | 1 | Rattus norvegicus | M401 | NRTFLMVISHT | 1 | Mus musculus | M401 | NRPFLMVISHT | 1 | Mus musculus | M401 | NRPFLFVIYHT | 1 | Mus musculus | M401 | NRPFLIAVVLK | 1 | Bos taurus | M414 | QSIIFLGKVTN | 3 | Bos taurus, Bos taurus, Bos taurus | M414 | QNIFFMSKVTN | 1 | Homo sapiens | M414 | AIAPFLAKIFN | 1 | Rattus norvegicus | M414 | QTTLFIAKITH | 1 | Mus musculus | M414 | QTTLFMAKVTN | 1 | Mus musculus | M414 | QSILFMAKVNN | 1 | Mus musculus | S415 | SIIFLGKVTNP | 3 | Bos taurus, Bos taurus, Bos taurus | S415 | NIFFMSKVTNP | 1 | Homo sapiens | S415 | IAPFLAKIFNP | 1 | Rattus norvegicus | S415 | TTLFIAKITHP | 1 | Mus musculus | S415 | TTLFMAKVTNP | 1 | Mus musculus | S415 | SILFMAKVNNP | 1 | Mus musculus |
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