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mutLBSgeneDB |
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| Gene summary for 285540 |
 Gene summary |
| Basic gene Info. | Gene symbol | 285540 |
| Gene name | ||
| Synonyms | ||
| Cytomap | UCSC genome browser: | |
| Type of gene | ||
| RefGenes | ||
| Description | ||
| Modification date | ||
| dbXrefs | ||
| Protein | UniProt: Q8TCG2 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_285540 | |
| BioGPS: 285540 | ||
| Pathway | NCI Pathway Interaction Database: 285540 | |
| KEGG: 285540 | ||
| REACTOME: 285540 | ||
| Pathway Commons: 285540 | ||
| Context | iHOP: 285540 | |
| ligand binding site mutation search in PubMed: 285540 | ||
| UCL Cancer Institute: 285540 | ||
| 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 285540 |
| 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 285540 |
| 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 | I343 | I343V | -1.1553261 | V146 | G145C | -0.90774581 |
| (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 285540 from PDB |
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| Differential gene expression and gene-gene network for 285540 |
| 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 285540 |
| 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 285540 |
| 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 285540 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ATP | ATP | 4wtv | A | V146 I343 | ATP | ATP | 4wtv | B | V146 I343 |
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| Conservation information for LBS of 285540 |
| Multiple alignments for Q8TCG2 in multiple species |
| LBS | AA sequence | # species | Species | D344 | KIAAIDNGLAF | 5 | Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Xenopus tropicalis | D344 | KLAAIDNGLSF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D344 | QIGAIDNSLAF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D344 | RIAAIDNGLAF | 1 | Rattus norvegicus | F135 | SSGSYFVKDPK | 3 | Homo sapiens, Danio rerio, Xenopus tropicalis | F135 | SSGSYFVKDSK | 2 | Mus musculus, Rattus norvegicus | F135 | SSGSYFVYGTR | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F135 | SSGSYFVKNKV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F135 | SSGSYFVKDCK | 1 | Gallus gallus | F259 | GSFQLFVEGYK | 2 | Homo sapiens, Gallus gallus | F259 | GSFQLFVKDYK | 2 | Mus musculus, Rattus norvegicus | F259 | GSFQLFLKEYI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F259 | GSFQQFLDGFV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F259 | GSFQLFVEGYH | 1 | Danio rerio | F259 | GSFQLFVDGYK | 1 | Xenopus tropicalis | I126 | VFPERISQGSS | 4 | Danio rerio, Mus musculus, Rattus norvegicus, Xenopus tropicalis | I126 | IFPERISQGSS | 1 | Homo sapiens | I126 | RELERIQTGSS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I126 | VFPVLISKGSS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I126 | VLPERISQGSS | 1 | Gallus gallus | I343 | IKIAAIDNGLA | 5 | Homo sapiens, Danio rerio, Mus musculus, Gallus gallus, Xenopus tropicalis | I343 | LKLAAIDNGLS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I343 | FQIGAIDNSLA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I343 | IRIAAIDNGLA | 1 | Rattus norvegicus | K148 | -IGVFKPKSEE | 6 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis | K148 | PVGVFKPKDEE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K148 | -IAVFKPKDEE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L258 | VGSFQLFVEGY | 2 | Danio rerio, Gallus gallus | L258 | IGSFQLFVEGY | 1 | Homo sapiens | L258 | LGSFQLFLKEY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L258 | TGSFQQFLDGF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L258 | VGSFQLFVKDY | 1 | Mus musculus | L258 | IGSFQLFVKDY | 1 | Rattus norvegicus | L258 | VGSFQLFVDGY | 1 | Xenopus tropicalis | L311 | GNDNWLVR--- | 2 | Homo sapiens, Gallus gallus | L311 | GNDNWLVK--- | 2 | Mus musculus, Rattus norvegicus | L311 | GLDNWMVK--- | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L311 | NLDNWMIKICY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L311 | GNDNWLIK--- | 1 | Danio rerio | L311 | GNDNWLIR--- | 1 | Xenopus tropicalis | P205 | GLGVVPKTKVV | 2 | Gallus gallus, Xenopus tropicalis | P205 | HLSIVPKTKVV | 1 | Homo sapiens | P205 | ETHLVPYTDTA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P205 | GLYLVPYTSVA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | P205 | GLWIVPKTKVV | 1 | Danio rerio | P205 | NLGIVPKTKVV | 1 | Mus musculus | P205 | QLGIVPKTKVV | 1 | Rattus norvegicus | Q257 | KVGSFQLFVEG | 2 | Danio rerio, Gallus gallus | Q257 | KIGSFQLFVEG | 1 | Homo sapiens | Q257 | KLGSFQLFLKE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q257 | KTGSFQQFLDG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q257 | KVGSFQLFVKD | 1 | Mus musculus | Q257 | KIGSFQLFVKD | 1 | Rattus norvegicus | Q257 | KVGSFQLFVDG | 1 | Xenopus tropicalis | S133 | QGSSGSYFVKD | 6 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis | S133 | TGSSGSYFVYG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S133 | KGSSGSYFVKN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V146 | ---IGVFKPKS | 6 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Gallus gallus, Xenopus tropicalis | V146 | SVPVGVFKPKD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V146 | ---IAVFKPKD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V260 | SFQLFVEGYKE | 2 | Homo sapiens, Gallus gallus | V260 | SFQLFVKDYKE | 2 | Mus musculus, Rattus norvegicus | V260 | SFQLFLKEYIN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V260 | SFQQFLDGFVV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V260 | SFQLFVEGYHE | 1 | Danio rerio | V260 | SFQLFVDGYKE | 1 | Xenopus tropicalis |
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