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mutLBSgeneDB |
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| Gene summary for 100507258 |
 Gene summary |
| Basic gene Info. | Gene symbol | 100507258 |
| Gene name | ||
| Synonyms | ||
| Cytomap | UCSC genome browser: | |
| Type of gene | ||
| RefGenes | ||
| Description | ||
| Modification date | ||
| dbXrefs | ||
| Protein | UniProt: Q8N1Q1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_100507258 | |
| BioGPS: 100507258 | ||
| Pathway | NCI Pathway Interaction Database: 100507258 | |
| KEGG: 100507258 | ||
| REACTOME: 100507258 | ||
| Pathway Commons: 100507258 | ||
| Context | iHOP: 100507258 | |
| ligand binding site mutation search in PubMed: 100507258 | ||
| UCL Cancer Institute: 100507258 | ||
| 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 100507258 |
| 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 100507258 |
| 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 | F132 | S131N | -0.89093549 | W6 | G7E | -0.86164733 | V144 | A143T | -0.003828845 | L142 | A143T | -0.003828845 |
| (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 100507258 from PDB |
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| Differential gene expression and gene-gene network for 100507258 |
| 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 100507258 |
| 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 100507258 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|investigational | DB00909 | Zonisamide | Small molecule |  |
| Experimental | DB07115 | N-(4-chlorobenzyl)-N-methylbenzene-1,4-disulfonamide | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of 100507258 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 4MD | N-(4-CHLOROBENZYL)-N-METHYLBENZENE-1,4-DISULFONAMIDE | 3da2 | A | F132 V144 | 4MD | N-(4-CHLOROBENZYL)-N-METHYLBENZENE-1,4-DISULFONAMIDE | 3da2 | B | F132 V144 |
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| Conservation information for LBS of 100507258 |
| Multiple alignments for Q8N1Q1 in multiple species |
| LBS | AA sequence | # species | Species | A136 | SFVEAAHEPDG | 1 | Homo sapiens | A136 | NFGEAASKPDG | 1 | Danio rerio | A136 | SFVEAAHESDG | 1 | Mus musculus | F132 | DKYPSFVEAAH | 2 | Homo sapiens, Mus musculus | F132 | -KYPNFGEAAS | 1 | Danio rerio | H120 | YAAELHVVHWN | 2 | Homo sapiens, Mus musculus | H120 | FPCELHLVHWN | 1 | Danio rerio | H137 | FVEAAHEPDGL | 1 | Homo sapiens | H137 | FGEAASKPDGL | 1 | Danio rerio | H137 | FVEAAHESDGL | 1 | Mus musculus | H65 | ISNSGHSFNVD | 2 | Homo sapiens, Mus musculus | H65 | ILNNGHSFQVD | 1 | Danio rerio | H95 | RLRQVHLHWGS | 1 | Homo sapiens | H95 | RLRQFHFHWGS | 1 | Danio rerio | H95 | RLRQFHLHWGS | 1 | Mus musculus | H97 | RQVHLHWGSAD | 1 | Homo sapiens | H97 | RQFHFHWGSSD | 1 | Danio rerio | H97 | RQFHLHWGSAD | 1 | Mus musculus | I59 | PSSAKIISNSG | 1 | Homo sapiens | I59 | PATTKSILNNG | 1 | Danio rerio | I59 | PASAKIISNSG | 1 | Mus musculus | K58 | DPSSAKIISNS | 1 | Homo sapiens | K58 | DPATTKSILNN | 1 | Danio rerio | K58 | DPASAKIISNS | 1 | Mus musculus | L142 | HEPDGLAVLGV | 1 | Homo sapiens | L142 | SKPDGLAVVGV | 1 | Danio rerio | L142 | HESDGLAVLGV | 1 | Mus musculus | L199 | TYPGSLTVPPL | 2 | Homo sapiens, Mus musculus | L199 | TYEGSLTTPPL | 1 | Danio rerio | L205 | TVPPLLESVTW | 2 | Homo sapiens, Mus musculus | L205 | TTPPLLESVTW | 1 | Danio rerio | N68 | SGHSFNVDFDD | 2 | Homo sapiens, Mus musculus | N68 | NGHSFQVDFVD | 1 | Danio rerio | P203 | SLTVPPLLESV | 2 | Homo sapiens, Mus musculus | P203 | SLTTPPLLESV | 1 | Danio rerio | Q93 | SYRLRQVHLHW | 1 | Homo sapiens | Q93 | IYRLRQFHFHW | 1 | Danio rerio | Q93 | NYRLRQFHLHW | 1 | Mus musculus | R176 | KGKQTRFTNFD | 2 | Homo sapiens, Mus musculus | R176 | KGRQTTFANFD | 1 | Danio rerio | R92 | GSYRLRQVHLH | 1 | Homo sapiens | R92 | GIYRLRQFHFH | 1 | Danio rerio | R92 | GNYRLRQFHLH | 1 | Mus musculus | S63 | KIISNSGHSFN | 2 | Homo sapiens, Mus musculus | S63 | KSILNNGHSFQ | 1 | Danio rerio | T200 | YPGSLTVPPLL | 2 | Homo sapiens, Mus musculus | T200 | YEGSLTTPPLL | 1 | Danio rerio | V122 | AELHVVHWNSD | 2 | Homo sapiens, Mus musculus | V122 | CELHLVHWNT- | 1 | Danio rerio | V133 | KYPSFVEAAHE | 2 | Homo sapiens, Mus musculus | V133 | KYPNFGEAASK | 1 | Danio rerio | V144 | PDGLAVLGVFL | 1 | Homo sapiens | V144 | PDGLAVVGVFL | 1 | Danio rerio | V144 | SDGLAVLGVFL | 1 | Mus musculus | V201 | PGSLTVPPLLE | 2 | Homo sapiens, Mus musculus | V201 | EGSLTTPPLLE | 1 | Danio rerio | V208 | PLLESVTWIVL | 3 | Homo sapiens, Danio rerio, Mus musculus | W210 | LESVTWIVLKQ | 2 | Homo sapiens, Mus musculus | W210 | LESVTWIVLKE | 1 | Danio rerio | W6 | MSRLSWGYREH | 1 | Homo sapiens | W6 | MAH-AWGYGPA | 1 | Danio rerio | W6 | MARLSWGYGEH | 1 | Mus musculus |
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