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mutLBSgeneDB |
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| Gene summary for SERPINA7 |
 Gene summary |
| Basic gene Info. | Gene symbol | SERPINA7 |
| Gene name | serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 | |
| Synonyms | TBG | |
| Cytomap | UCSC genome browser: Xq22.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000354.5, | |
| Description | T4-binding globulinserine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7serpin A7thyroxin-binding globulinthyroxine-binding globulin | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 314200 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000123561 | ||
| HPRD : 02438 | ||
| Vega : OTTHUMG00000022144 | ||
| Protein | UniProt: P05543 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SERPINA7 | |
| BioGPS: 6906 | ||
| Pathway | NCI Pathway Interaction Database: SERPINA7 | |
| KEGG: SERPINA7 | ||
| REACTOME: SERPINA7 | ||
| Pathway Commons: SERPINA7 | ||
| Context | iHOP: SERPINA7 | |
| ligand binding site mutation search in PubMed: SERPINA7 | ||
| UCL Cancer Institute: SERPINA7 | ||
| 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 SERPINA7 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Q129 | Q129H | HNSC | 1 | H139 | H139N | LUAD | 1 | L289 | L289Q | LUSC | 1 | A47 | A47S | UCEC | 1 | K138 | K138N | UCEC | 1 | S224 | S223Y | 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 SERPINA7 |
| 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 | L289 | L289Q | -1.8992736 | Q129 | Q129H | -1.1106378 | A47 | A47S | -1.1081259 | K138 | K138N | -0.75391329 | H139 | H139N | -0.59196634 | S224 | S223Y | -0.52669654 |
| (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 SERPINA7 from PDB |
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| Differential gene expression and gene-gene network for SERPINA7 |
| 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 SERPINA7 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1420598 | THYROXINE-BINDING GLOBULIN OF SERUM | 6 | GeneticVariation |
| umls:C0025521 | Metabolism, Inborn Errors | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SERPINA7 |
| 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 SERPINA7 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 SERPINA7 |
| Multiple alignments for P05543 in multiple species |
| LBS | AA sequence | # species | Species | A144 | HLKPLAKFLND | 2 | Homo sapiens, Pan troglodytes | A144 | QLKPLEKFLDD | 1 | Bos taurus | A282 | MESVEAAMSSK | 2 | Homo sapiens, Pan troglodytes | A282 | MEWVEGAMSSK | 1 | Bos taurus | A283 | ESVEAAMSSKT | 2 | Homo sapiens, Pan troglodytes | A283 | EWVEGAMSSKT | 1 | Bos taurus | A47 | MSSINADFAFN | 3 | Homo sapiens, Pan troglodytes, Bos taurus | D221 | PSKTEDSSSFL | 2 | Homo sapiens, Pan troglodytes | D221 | PSKTEEGSSFL | 1 | Bos taurus | D260 | TVLQMDYSKNA | 3 | Homo sapiens, Pan troglodytes, Bos taurus | D341 | SGLTEDNGLKL | 2 | Homo sapiens, Pan troglodytes | D341 | SGLTKDNGLKV | 1 | Bos taurus | E220 | DPSKTEDSSSF | 2 | Homo sapiens, Pan troglodytes | E220 | DPSKTEEGSSF | 1 | Bos taurus | E340 | FSGLTEDNGLK | 2 | Homo sapiens, Pan troglodytes | E340 | FSGLTKDNGLK | 1 | Bos taurus | E397 | MLLILERSTRS | 2 | Homo sapiens, Pan troglodytes | E397 | LLLILEKNTRS | 1 | Bos taurus | F163 | VFSTDFSNISA | 2 | Homo sapiens, Pan troglodytes | F163 | VFSTDFSNVSA | 1 | Bos taurus | G137 | NALFIGKHLKP | 2 | Homo sapiens, Pan troglodytes | G137 | NALFIGKQLKP | 1 | Bos taurus | H139 | LFIGKHLKPLA | 2 | Homo sapiens, Pan troglodytes | H139 | LFIGKQLKPLE | 1 | Bos taurus | H205 | LVNYIHFKAQW | 2 | Homo sapiens, Pan troglodytes | H205 | LVNYLCFKAQW | 1 | Bos taurus | I403 | RSTRSILFLGK | 2 | Homo sapiens, Pan troglodytes | I403 | KNTRSILFLGK | 1 | Bos taurus | K138 | ALFIGKHLKPL | 2 | Homo sapiens, Pan troglodytes | K138 | ALFIGKQLKPL | 1 | Bos taurus | K182 | VEMQTKGKVVG | 2 | Homo sapiens, Pan troglodytes | K182 | VEKQTKGKIVG | 1 | Bos taurus | K290 | SSKTLKKWNRL | 3 | Homo sapiens, Pan troglodytes, Bos taurus | L128 | KKELELQIGNA | 2 | Homo sapiens, Pan troglodytes | L128 | KKELELQMGNA | 1 | Bos taurus | L143 | KHLKPLAKFLN | 2 | Homo sapiens, Pan troglodytes | L143 | KQLKPLEKFLD | 1 | Bos taurus | L226 | DSSSFLIDKTT | 2 | Homo sapiens, Pan troglodytes | L226 | EGSSFLVDKTT | 1 | Bos taurus | L266 | YSKNALALFVL | 3 | Homo sapiens, Pan troglodytes, Bos taurus | L268 | KNALALFVLPK | 3 | Homo sapiens, Pan troglodytes, Bos taurus | L289 | MSSKTLKKWNR | 3 | Homo sapiens, Pan troglodytes, Bos taurus | L296 | KWNRLLQKGWV | 2 | Homo sapiens, Pan troglodytes | L296 | KWNRLLRKGWV | 1 | Bos taurus | L396 | FMLLILERSTR | 2 | Homo sapiens, Pan troglodytes | L396 | FLLLILEKNTR | 1 | Bos taurus | M284 | SVEAAMSSKTL | 2 | Homo sapiens, Pan troglodytes | M284 | WVEGAMSSKTL | 1 | Bos taurus | N293 | TLKKWNRLLQK | 2 | Homo sapiens, Pan troglodytes | N293 | TLKKWNRLLRK | 1 | Bos taurus | N342 | GLTEDNGLKLS | 2 | Homo sapiens, Pan troglodytes | N342 | GLTKDNGLKVS | 1 | Bos taurus | Q129 | KELELQIGNAL | 2 | Homo sapiens, Pan troglodytes | Q129 | KELELQMGNAL | 1 | Bos taurus | Q258 | NCTVLQMDYSK | 3 | Homo sapiens, Pan troglodytes, Bos taurus | R398 | LLILERSTRSI | 2 | Homo sapiens, Pan troglodytes | R398 | LLILEKNTRSI | 1 | Bos taurus | R401 | LERSTRSILFL | 2 | Homo sapiens, Pan troglodytes | R401 | LEKNTRSILFL | 1 | Bos taurus | S224 | TEDSSSFLIDK | 2 | Homo sapiens, Pan troglodytes | S224 | TEEGSSFLVDK | 1 | Bos taurus | S286 | EAAMSSKTLKK | 2 | Homo sapiens, Pan troglodytes | S286 | EGAMSSKTLKK | 1 | Bos taurus | S43 | TLYKMSSINAD | 3 | Homo sapiens, Pan troglodytes, Bos taurus | S44 | LYKMSSINADF | 3 | Homo sapiens, Pan troglodytes, Bos taurus | T161 | TEVFSTDFSNI | 2 | Homo sapiens, Pan troglodytes | T161 | TEVFSTDFSNV | 1 | Bos taurus | Y245 | QMEQYYHLVDM | 2 | Homo sapiens, Pan troglodytes | Y245 | QMEQYYHLVDT | 1 | Bos taurus |
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