mutLBSgeneDB |
Gene summary for 100500832 |
Gene summary |
Basic gene Info. | Gene symbol | 100500832 |
Gene name | ||
Synonyms | ||
Cytomap | UCSC genome browser: | |
Type of gene | ||
RefGenes | ||
Description | ||
Modification date | ||
dbXrefs | ||
Protein | UniProt: Q9BZX2 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_100500832 | |
BioGPS: 100500832 | ||
Pathway | NCI Pathway Interaction Database: 100500832 | |
KEGG: 100500832 | ||
REACTOME: 100500832 | ||
Pathway Commons: 100500832 | ||
Context | iHOP: 100500832 | |
ligand binding site mutation search in PubMed: 100500832 | ||
UCL Cancer Institute: 100500832 | ||
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 100500832 |
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 100500832 |
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 |
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 | S35 | V36A | -1.2484113 | H117 | S118C | -0.72483525 | Q184 | Q184E | -0.60474103 | R174 | E173V | -0.57648757 | H117 | R119L | -0.52065444 | H117 | S116F | -0.19129914 |
(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 100500832 from PDB |
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Differential gene expression and gene-gene network for 100500832 |
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 100500832 |
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 100500832 |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Experimental | DB02097 | Cytidine | Small molecule | |
Experimental | DB02431 | Cytidine-5'-Triphosphate | Small molecule | |
Experimental | DB03403 | Cytidine-5'-Monophosphate | Small molecule | |
Experimental | DB04005 | Uridine 5'-Triphosphate | Small molecule | |
Nutraceutical|vet_approved | DB04272 | Citric Acid | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of 100500832 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | C5P | CMP | 1uj2 | A | H117 Q184 | CTP | CTP | 1udw | A | H117 R174 Q184 | CTP | CTP | 1udw | B | H117 R174 Q184 | UTP | UTP(4-) | 1uei | A | H117 R174 Q184 | UTP | UTP(4-) | 1uei | B | H117 R174 Q184 | CTN | CYTIDINE | 1uej | A | H117 R174 Q184 | CTN | CYTIDINE | 1uej | B | H117 R174 Q184 | C5P | CMP | 1uj2 | B | H117 R174 Q184 | C5P | CMP | 1xrj | A | H117 R174 Q184 | C5P | CMP | 1xrj | B | H117 R174 Q184 | ADP | ADP | 1uj2 | A | S35 | ADP | ADP | 1uj2 | B | S35 | ADP | ADP | 1xrj | A | S35 | ADP | ADP | 1xrj | B | S35 |
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Conservation information for LBS of 100500832 |
Multiple alignments for Q9BZX2 in multiple species |
LBS | AA sequence | # species | Species | A30 | VSGGTASGKSS | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | A30 | VAGGTASGKST | 1 | Drosophila melanogaster | A30 | VAGGTASGKSS | 1 | Danio rerio | D213 | IPRGADNLVAI | 3 | Homo sapiens, Danio rerio, Mus musculus | D213 | IPRGADNTVAI | 1 | Drosophila melanogaster | D213 | IPRGADNVVAI | 1 | Xenopus tropicalis | D62 | VILSQDSFYRV | 2 | Homo sapiens, Mus musculus | D62 | VSISQDSFYRE | 1 | Drosophila melanogaster | D62 | AILSQDSFYRV | 1 | Danio rerio | D62 | VMLSQDSFYRI | 1 | Xenopus tropicalis | D84 | GQFNFDHPDAF | 4 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus | D84 | GLFNFDHPDAF | 1 | Drosophila melanogaster | E135 | DVVLFEGILAF | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | E135 | DVVLFEGILVF | 1 | Drosophila melanogaster | E135 | DVVLFEGILMF | 1 | Danio rerio | F114 | IPVYDFVSHSR | 2 | Homo sapiens, Mus musculus | F114 | IPVYDFVTHSR | 2 | Danio rerio, Xenopus tropicalis | F114 | IPSYDYRTNSL | 1 | Drosophila melanogaster | F83 | KGQFNFDHPDA | 4 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus | F83 | KGLFNFDHPDA | 1 | Drosophila melanogaster | G32 | GGTASGKSSVC | 4 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus | G32 | GGTASGKSTVC | 1 | Drosophila melanogaster | H117 | YDFVSHSRK-E | 2 | Homo sapiens, Mus musculus | H117 | YDFVTHSRK-E | 2 | Danio rerio, Xenopus tropicalis | H117 | YDYRTNSLDFE | 1 | Drosophila melanogaster | I137 | VLFEGILAFYS | 2 | Homo sapiens, Mus musculus | I137 | VLFEGILVFYF | 1 | Drosophila melanogaster | I137 | VLFEGILMFYS | 1 | Danio rerio | I137 | VLFEGILAFYM | 1 | Xenopus tropicalis | K33 | GTASGKSSVCA | 2 | Homo sapiens, Mus musculus | K33 | GTASGKSTVCK | 1 | Drosophila melanogaster | K33 | GTASGKSSVCG | 1 | Danio rerio | K33 | GTASGKSSVCS | 1 | Xenopus tropicalis | Q184 | EQILSQYITFV | 2 | Homo sapiens, Mus musculus | Q184 | DAVLTQYMTFV | 1 | Drosophila melanogaster | Q184 | EQVLNQYITFV | 1 | Danio rerio | Q184 | EQVLTQYITFV | 1 | Xenopus tropicalis | R165 | DTRLSRRVLRD | 4 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus | R165 | DTRLARRVPRD | 1 | Drosophila melanogaster | R166 | TRLSRRVLRDI | 4 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus | R166 | TRLARRVPRDI | 1 | Drosophila melanogaster | R169 | SRRVLRDISER | 3 | Homo sapiens, Danio rerio, Mus musculus | R169 | ARRVPRDINER | 1 | Drosophila melanogaster | R169 | SRRVLRDINER | 1 | Xenopus tropicalis | R174 | RDISERGRDLE | 3 | Homo sapiens, Danio rerio, Mus musculus | R174 | RDINERGRDLD | 1 | Drosophila melanogaster | R174 | RDINERGRDLE | 1 | Xenopus tropicalis | R176 | ISERGRDLEQI | 2 | Homo sapiens, Mus musculus | R176 | INERGRDLDAV | 1 | Drosophila melanogaster | R176 | ISERGRDLEQV | 1 | Danio rerio | R176 | INERGRDLEQV | 1 | Xenopus tropicalis | S31 | SGGTASGKSSV | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | S31 | AGGTASGKSTV | 1 | Drosophila melanogaster | S31 | AGGTASGKSSV | 1 | Danio rerio | S34 | TASGKSSVCAK | 2 | Homo sapiens, Mus musculus | S34 | TASGKSTVCKK | 1 | Drosophila melanogaster | S34 | TASGKSSVCGK | 1 | Danio rerio | S34 | TASGKSSVCSK | 1 | Xenopus tropicalis | S35 | ASGKSSVCAKI | 2 | Homo sapiens, Mus musculus | S35 | ASGKSTVCKKI | 1 | Drosophila melanogaster | S35 | ASGKSSVCGKI | 1 | Danio rerio | S35 | ASGKSSVCSKI | 1 | Xenopus tropicalis | S60 | QVVILSQDSFY | 2 | Homo sapiens, Mus musculus | S60 | QVVSISQDSFY | 1 | Drosophila melanogaster | S60 | QVAILSQDSFY | 1 | Danio rerio | S60 | QVVMLSQDSFY | 1 | Xenopus tropicalis | T29 | GVSGGTASGKS | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | T29 | GVAGGTASGKS | 2 | Drosophila melanogaster, Danio rerio | V189 | QYITFVKPAFE | 4 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus | V189 | QYMTFVKPAFE | 1 | Drosophila melanogaster | Y112 | VQIPVYDFVSH | 2 | Homo sapiens, Mus musculus | Y112 | VQIPVYDFVTH | 2 | Danio rerio, Xenopus tropicalis | Y112 | VEIPSYDYRTN | 1 | Drosophila melanogaster | Y65 | SQDSFYRVLTS | 2 | Homo sapiens, Mus musculus | Y65 | SQDSFYRELTP | 1 | Drosophila melanogaster | Y65 | SQDSFYRVLTP | 1 | Danio rerio | Y65 | SQDSFYRILTP | 1 | Xenopus tropicalis |
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