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mutLBSgeneDB |
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| Gene summary for SERPINA6 |
 Gene summary |
| Basic gene Info. | Gene symbol | SERPINA6 |
| Gene name | serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 | |
| Synonyms | CBG | |
| Cytomap | UCSC genome browser: 14q32.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001756.3, | |
| Description | corticosteroid binding globulincorticosteroid-binding globulinserine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6serpin A6transcortin | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 122500 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000170099 | ||
| HPRD : 00419 | ||
| Vega : OTTHUMG00000171346 | ||
| Protein | UniProt: P08185 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SERPINA6 | |
| BioGPS: 866 | ||
| Pathway | NCI Pathway Interaction Database: SERPINA6 | |
| KEGG: SERPINA6 | ||
| REACTOME: SERPINA6 | ||
| Pathway Commons: SERPINA6 | ||
| Context | iHOP: SERPINA6 | |
| ligand binding site mutation search in PubMed: SERPINA6 | ||
| UCL Cancer Institute: SERPINA6 | ||
| 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 SERPINA6 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | W393 | S395R | COAD | 1 | R333 | T335A | COAD | 1 | R282 | R282Q | COAD | 1 | W393 | S395N | GBM | 1 | R86 | A87D | LUAD | 1 | W393 | S394R | LUSC | 1 | I285 | T284M | PRAD | 1 | S289 | A290T | STAD | 1 | I285 | T284M | STAD | 1 | R333 | T335A | 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 SERPINA6 |
| 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 | S289 | A290T | 0.2096033 | W393 | S394R | 0.048532631 | R282 | R282Q | -1.3459725 | R333 | T335A | -0.871815 | I285 | T284M | -0.83869322 | W393 | S395N | -0.68012992 | W393 | S395R | -0.35069476 | R86 | A87D | -0.11092091 |
| (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 SERPINA6 from PDB |
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| Differential gene expression and gene-gene network for SERPINA6 |
| 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 SERPINA6 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1852529 | Corticosteroid-Binding Globulin Deficiency | 5 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SERPINA6 |
| 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 SERPINA6 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 SERPINA6 |
| Multiple alignments for P08185 in multiple species |
| LBS | AA sequence | # species | Species | C82 | LSLGTCGHTRA | 1 | Homo sapiens | C82 | LSLSTRGST-- | 1 | Mus musculus | C82 | VSL---GSAQT | 1 | Rattus norvegicus | F388 | FIIMIFDHFTW | 1 | Homo sapiens | F388 | FIFLAFDKYTW | 1 | Mus musculus | F388 | FILLLFDKFTW | 1 | Rattus norvegicus | H390 | IMIFDHFTWSS | 1 | Homo sapiens | H390 | FLAFDKYTWSS | 1 | Mus musculus | H390 | LLLFDKFTWSS | 1 | Rattus norvegicus | I285 | LSRDTINRWSA | 1 | Homo sapiens | I285 | LNRDTIDRWGK | 1 | Mus musculus | I285 | LSRDTIDRWGK | 1 | Rattus norvegicus | N286 | SRDTINRWSAG | 1 | Homo sapiens | N286 | NRDTIDRWGKL | 1 | Mus musculus | N286 | SRDTIDRWGKL | 1 | Rattus norvegicus | Q254 | PCQLVQMNYVG | 1 | Homo sapiens | Q254 | PCQMVQMNYVG | 1 | Mus musculus | Q254 | PCQLIQMDYVG | 1 | Rattus norvegicus | R282 | IAALSRDTINR | 1 | Homo sapiens | R282 | VAALNRDTIDR | 1 | Mus musculus | R282 | IAALSRDTIDR | 1 | Rattus norvegicus | R333 | QANFSRITQDA | 1 | Homo sapiens | R333 | QSDFADTTKDT | 1 | Mus musculus | R333 | QSDFSGNTKDV | 1 | Rattus norvegicus | R86 | TCGHTRAQLLQ | 1 | Homo sapiens | R86 | TRGST--QYLE | 1 | Mus musculus | R86 | --GSAQTQSLQ | 1 | Rattus norvegicus | S289 | TINRWSAGLTS | 1 | Homo sapiens | S289 | TIDRWGKLMIP | 1 | Mus musculus | S289 | TIDRWGKLMTP | 1 | Rattus norvegicus | S41 | HRGLASANVDF | 1 | Homo sapiens | S41 | HRDLAPTNVDF | 1 | Mus musculus | S41 | HRGLAPTNVDF | 1 | Rattus norvegicus | T262 | YVGNGTVFFIL | 1 | Homo sapiens | T262 | YVGNGTTFIIL | 1 | Mus musculus | T262 | YVGNGTAFFIL | 1 | Rattus norvegicus | V44 | LAPTNVDFAFN | 2 | Mus musculus, Rattus norvegicus | V44 | LASANVDFAFS | 1 | Homo sapiens | W393 | FDHFTWSSLFL | 1 | Homo sapiens | W393 | FDKYTWSSLMM | 1 | Mus musculus | W393 | FDKFTWSSLMM | 1 | Rattus norvegicus |
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