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mutLBSgeneDB |
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| Gene summary for 149684 |
 Gene summary |
| Basic gene Info. | Gene symbol | 149684 |
| Gene name | ||
| Synonyms | ||
| Cytomap | UCSC genome browser: | |
| Type of gene | ||
| RefGenes | ||
| Description | ||
| Modification date | ||
| dbXrefs | ||
| Protein | UniProt: P17213 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_149684 | |
| BioGPS: 149684 | ||
| Pathway | NCI Pathway Interaction Database: 149684 | |
| KEGG: 149684 | ||
| REACTOME: 149684 | ||
| Pathway Commons: 149684 | ||
| Context | iHOP: 149684 | |
| ligand binding site mutation search in PubMed: 149684 | ||
| UCL Cancer Institute: 149684 | ||
| Assigned class in mutLBSgeneDB | ||
| 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 149684 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples |
| 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 149684 |
| 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 | V285 | R283H | -1.4891986 | Y301 | E303K | -1.4217827 | P368 | P368H | -1.2688496 | V444 | L443I | -1.0904868 | L251 | L251Q | -1.0839094 | P461 | P461T | -0.98152433 | F221 | F221L | -0.61331768 | V285 | L287P | -0.47719983 | K451 | E450D | -0.40976077 | S49 | S49R | -0.40472997 | P459 | P459L | -0.28077871 | P355 | P354L | -0.2104217 |
| (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 149684 from PDB |
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| Differential gene expression and gene-gene network for 149684 |
| 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 149684 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for 149684 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB04178 | Di-Stearoyl-3-Sn-Phosphatidylcholine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of 149684 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 149684 |
| Multiple alignments for P17213 in multiple species |
| LBS | AA sequence | # species | Species | A297 | YFFNTAGLVYQ | 1 | Homo sapiens | A297 | YFFNTEVLAYQ | 1 | Mus musculus | A297 | YFFNTAEFAYQ | 1 | Rattus norvegicus | A297 | YFFNTAGFVYQ | 1 | Bos taurus | A48 | KGLDYASQQGT | 1 | Homo sapiens | A48 | KGLDFACQQGV | 1 | Mus musculus | A48 | KGLDFVCQESM | 1 | Rattus norvegicus | A48 | KGLDYACQQGV | 1 | Bos taurus | A55 | QQGTAALQKEL | 1 | Homo sapiens | A55 | QQGVVELQKEL | 1 | Mus musculus | A55 | QESMVELQKEL | 1 | Rattus norvegicus | A55 | QQGVLTLQKEL | 1 | Bos taurus | F109 | NVGLKFSISNA | 1 | Homo sapiens | F109 | SDGLRVFIKDA | 1 | Mus musculus | F109 | SDGLQLSITSA | 1 | Rattus norvegicus | F109 | DKGLDLSIRDA | 1 | Bos taurus | F221 | ELQPYFQTLPV | 1 | Homo sapiens | F221 | KLQPYLKTLSV | 1 | Mus musculus | F221 | KLQPYVKTLPV | 1 | Rattus norvegicus | F221 | KLQPYFQTLPV | 1 | Bos taurus | F294 | LSDYFFNTAGL | 1 | Homo sapiens | F294 | ISDYFFNTEVL | 1 | Mus musculus | F294 | ISDYFFNTAEF | 1 | Rattus norvegicus | F294 | ISEYFFNTAGF | 1 | Bos taurus | F366 | PTGLTFYPAVD | 1 | Homo sapiens | F366 | PSGLSFNPKLE | 1 | Mus musculus | F366 | PSGLSLSPNLE | 1 | Rattus norvegicus | F366 | PSGLDLIFVLD | 1 | Bos taurus | F456 | KLQKGFPLPTP | 1 | Homo sapiens | F456 | RLRRGFPLPLP | 1 | Mus musculus | F456 | KLRRGFPLPLP | 1 | Rattus norvegicus | F456 | KLQKGFPLPLP | 1 | Bos taurus | G52 | YASQQGTAALQ | 1 | Homo sapiens | G52 | FACQQGVVELQ | 1 | Mus musculus | G52 | FVCQESMVELQ | 1 | Rattus norvegicus | G52 | YACQQGVLTLQ | 1 | Bos taurus | I40 | GVVVRISQKGL | 1 | Homo sapiens | I40 | GFVAMISQKGL | 1 | Mus musculus | I40 | GFVARISQKGL | 1 | Rattus norvegicus | I40 | GIVARITQKGL | 1 | Bos taurus | I99 | LPSSQISMVPN | 1 | Homo sapiens | I99 | IPNPKIEMLPS | 1 | Mus musculus | I99 | IPDPQIKLLPS | 1 | Rattus norvegicus | I99 | LPNSQIRPLPD | 1 | Bos taurus | K451 | PRVNEKLQKGF | 1 | Homo sapiens | K451 | PKINERLRRGF | 1 | Mus musculus | K451 | PKINEKLRRGF | 1 | Rattus norvegicus | K451 | PVINKKLQKGF | 1 | Bos taurus | L107 | VPNVGLKFSIS | 1 | Homo sapiens | L107 | LPSDGLRVFIK | 1 | Mus musculus | L107 | LPSDGLQLSIT | 1 | Rattus norvegicus | L107 | LPDKGLDLSIR | 1 | Bos taurus | L217 | SVSSELQPYFQ | 1 | Homo sapiens | L217 | SVSSKLQPYLK | 1 | Mus musculus | L217 | SVSAKLQPYVK | 1 | Rattus norvegicus | L217 | TVSSKLQPYFQ | 1 | Bos taurus | L224 | PYFQTLPVMTK | 1 | Homo sapiens | L224 | PYLKTLSVITR | 1 | Mus musculus | L224 | PYVKTLPVVAK | 1 | Rattus norvegicus | L224 | PYFQTLPVTTK | 1 | Bos taurus | L251 | TTAETLDVQMK | 1 | Homo sapiens | L251 | TTNQFLEGQLK | 1 | Mus musculus | L251 | TTDKFLEGQLR | 1 | Rattus norvegicus | L251 | ATANNLDWLLK | 1 | Bos taurus | L307 | QEAGVLKMTLR | 1 | Homo sapiens | L307 | QQSGTLKMTLG | 1 | Mus musculus | L307 | QESETLKITLR | 1 | Rattus norvegicus | L307 | QKAGALNLTLR | 1 | Bos taurus | L357 | STPPHLSVQPT | 1 | Homo sapiens | L357 | PVPVHLSIQPS | 1 | Mus musculus | L357 | PLFAHLNIQPS | 1 | Rattus norvegicus | L357 | SLPPKLTMKPS | 1 | Bos taurus | L406 | AESNRLVGELK | 1 | Homo sapiens | L406 | AEENRLVGEMK | 1 | Mus musculus | L406 | AMKNRLIGEMK | 1 | Rattus norvegicus | L406 | AKSDRLIGELR | 1 | Bos taurus | L410 | RLVGELKLD-R | 1 | Homo sapiens | L410 | RLVGEMKLGSR | 1 | Mus musculus | L410 | RLIGEMKLG-R | 1 | Rattus norvegicus | L410 | RLIGELRLD-K | 1 | Bos taurus | L412 | VGELKLD-RLL | 1 | Homo sapiens | L412 | VGEMKLGSRWL | 1 | Mus musculus | L412 | IGEMKLG-RLL | 1 | Rattus norvegicus | L412 | IGELRLD-KLL | 1 | Bos taurus | L452 | RVNEKLQKGFP | 1 | Homo sapiens | L452 | KINERLRRGFP | 1 | Mus musculus | L452 | KINEKLRRGFP | 1 | Rattus norvegicus | L452 | VINKKLQKGFP | 1 | Bos taurus | M391 | LFLIGMHTTGS | 1 | Homo sapiens | M391 | LFVLGMKTNAS | 1 | Mus musculus | M391 | LFLLGMKTNAS | 1 | Rattus norvegicus | M391 | LFLLEMNLNLS | 1 | Bos taurus | M397 | HTTGSMEVSAE | 1 | Homo sapiens | M397 | KTNASLEVDAE | 1 | Mus musculus | M397 | KTNASLEVNAM | 1 | Rattus norvegicus | M397 | NLNLSVVVGAK | 1 | Bos taurus | P355 | SASTPPHLSVQ | 1 | Homo sapiens | P355 | SAPVPVHLSIQ | 1 | Mus musculus | P355 | SAPLFAHLNIQ | 1 | Rattus norvegicus | P355 | WASLPPKLTMK | 1 | Bos taurus | P368 | GLTFYPAVDVQ | 1 | Homo sapiens | P368 | GLSFNPKLETQ | 1 | Mus musculus | P368 | GLSLSPNLETR | 1 | Rattus norvegicus | P368 | GLDLIFVLDTQ | 1 | Bos taurus | P459 | RGFPLPLPAGI | 2 | Mus musculus, Rattus norvegicus | P459 | KGFPLPTPARV | 1 | Homo sapiens | P459 | KGFPLPLPAYI | 1 | Bos taurus | P461 | FPLPTPARVQL | 1 | Homo sapiens | P461 | FPLPLPAGIRF | 1 | Mus musculus | P461 | FPLPLPAGIQL | 1 | Rattus norvegicus | P461 | FPLPLPAYIEL | 1 | Bos taurus | Q51 | DYASQQGTAAL | 1 | Homo sapiens | Q51 | DFACQQGVVEL | 1 | Mus musculus | Q51 | DFVCQESMVEL | 1 | Rattus norvegicus | Q51 | DYACQQGVLTL | 1 | Bos taurus | R463 | LPTPARVQLYN | 1 | Homo sapiens | R463 | LPLPAGIRFSH | 1 | Mus musculus | R463 | LPLPAGIQLIN | 1 | Rattus norvegicus | R463 | LPLPAYIELFN | 1 | Bos taurus | S49 | GLDYASQQGTA | 1 | Homo sapiens | S49 | GLDFACQQGVV | 1 | Mus musculus | S49 | GLDFVCQESMV | 1 | Rattus norvegicus | S49 | GLDYACQQGVL | 1 | Bos taurus | T393 | LIGMHTTGSME | 1 | Homo sapiens | T393 | VLGMKTNASLE | 1 | Mus musculus | T393 | LLGMKTNASLE | 1 | Rattus norvegicus | T393 | LLEMNLNLSVV | 1 | Bos taurus | V285 | AHDRMVYLGLS | 1 | Homo sapiens | V285 | NGAYMVCMGIS | 1 | Mus musculus | V285 | NNNYMVCMGIS | 1 | Rattus norvegicus | V285 | DHDRMVYLGIS | 1 | Bos taurus | V38 | NPGVVVRISQK | 1 | Homo sapiens | V38 | DPGFVAMISQK | 1 | Mus musculus | V38 | DPGFVARISQK | 1 | Rattus norvegicus | V38 | NPGIVARITQK | 1 | Bos taurus | V399 | TGSMEVSAESN | 1 | Homo sapiens | V399 | NASLEVDAEEN | 1 | Mus musculus | V399 | NASLEVNAMKN | 1 | Rattus norvegicus | V399 | NLSVVVGAKSD | 1 | Bos taurus | V440 | IMNYIVPILVL | 1 | Homo sapiens | V440 | VINYLVSTLVL | 1 | Mus musculus | V440 | VINYLMSTMVL | 1 | Rattus norvegicus | V440 | VINYVMPTIVL | 1 | Bos taurus | V444 | IVPILVLPRVN | 1 | Homo sapiens | V444 | LVSTLVLPKIN | 1 | Mus musculus | V444 | LMSTMVLPKIN | 1 | Rattus norvegicus | V444 | VMPTIVLPVIN | 1 | Bos taurus | V448 | LVLPRVNEKLQ | 1 | Homo sapiens | V448 | LVLPKINERLR | 1 | Mus musculus | V448 | MVLPKINEKLR | 1 | Rattus norvegicus | V448 | IVLPVINKKLQ | 1 | Bos taurus | Y220 | SELQPYFQTLP | 1 | Homo sapiens | Y220 | SKLQPYLKTLS | 1 | Mus musculus | Y220 | AKLQPYVKTLP | 1 | Rattus norvegicus | Y220 | SKLQPYFQTLP | 1 | Bos taurus | Y301 | TAGLVYQEAGV | 1 | Homo sapiens | Y301 | TEVLAYQQSGT | 1 | Mus musculus | Y301 | TAEFAYQESET | 1 | Rattus norvegicus | Y301 | TAGFVYQKAGA | 1 | Bos taurus | Y486 | GADVVYK | 1 | Homo sapiens | Y486 | EADLHLI | 1 | Mus musculus | Y486 | EADLHRT | 1 | Rattus norvegicus | Y486 | GADVHYS | 1 | Bos taurus |
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