mutLBSgeneDB |
Gene summary for BUB1B |
Gene summary |
Basic gene Info. | Gene symbol | BUB1B |
Gene name | BUB1 mitotic checkpoint serine/threonine kinase B | |
Synonyms | BUB1beta|BUBR1|Bub1A|MAD3L|MVA1|SSK1|hBUBR1 | |
Cytomap | UCSC genome browser: 15q15 | |
Type of gene | protein-coding | |
RefGenes | NM_001211.5, | |
Description | MAD3/BUB1-related protein kinasebudding uninhibited by benzimidazoles 1 homolog betamitotic checkpoint kinase MAD3Lmitotic checkpoint serine/threonine-protein kinase BUB1 beta | |
Modification date | 20141207 | |
dbXrefs | MIM : 602860 | |
HGNC : HGNC | ||
Ensembl : ENSG00000156970 | ||
HPRD : 04176 | ||
Vega : OTTHUMG00000129877 | ||
Protein | UniProt: O60566 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_BUB1B | |
BioGPS: 701 | ||
Pathway | NCI Pathway Interaction Database: BUB1B | |
KEGG: BUB1B | ||
REACTOME: BUB1B | ||
Pathway Commons: BUB1B | ||
Context | iHOP: BUB1B | |
ligand binding site mutation search in PubMed: BUB1B | ||
UCL Cancer Institute: BUB1B | ||
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 BUB1B |
Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.) : non-synonymous mutation on LBS, Circle size denotes number of samples. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | W125 | N123S | LUAD | 1 | L131 | R130C | LUAD | 1 | L131 | R130C | STAD | 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 BUB1B |
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 | L131 | R130C | -1.4818635 | W125 | N123S | -0.37687832 |
(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 BUB1B from PDB |
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Differential gene expression and gene-gene network for BUB1B |
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 BUB1B |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C1850343 | Mosaic variegated aneuploidy syndrome | 8 | Biomarker, GeneticVariation |
umls:C0009404 | Colorectal Neoplasms | 4 | AlteredExpression, Biomarker, GeneticVariation |
umls:C0206656 | Rhabdomyosarcoma, Embryonal | 2 | Biomarker, GeneticVariation |
umls:C0279626 | Esophageal Squamous Cell Carcinoma | 2 | Biomarker |
umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
umls:C0018273 | Growth Disorders | 1 | Biomarker |
umls:C0025958 | Microcephaly | 1 | Biomarker |
umls:C0699790 | Colon Carcinoma | 1 | Biomarker, GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
137512 | R130C | not provided | Germline | MedGen:CN169374 |
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Pharmacological information for BUB1B |
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. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of BUB1B go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (SER,SER,GLU,ASN,LYS,ILE,ASP,PHE,ASN,ASP,PHE,ILE,LYS,ARG,LEU,LYS,THR,GLY) | 3si5 | A | L131 | III | Peptide ligand (LYS,ILE,ASP,PHE,ASN,ASP,PHE,ILE,LYS,ARG,LEU,LYS,THR) | 3si5 | B | W125 L131 |
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Conservation information for LBS of BUB1B |
Multiple alignments for O60566 in multiple species |
LBS | AA sequence | # species | Species | C132 | KLGRLCNEPLD | 1 | Homo sapiens | C132 | EYAEHCADAEV | 1 | Arabidopsis thaliana | C132 | KLGHLCNEPLD | 1 | Mus musculus | D137 | CNEPLDMYSYL | 2 | Homo sapiens, Mus musculus | D137 | CADAEVIYKFL | 1 | Arabidopsis thaliana | E103 | MSTLLERAVEA | 1 | Homo sapiens | E103 | LLVIYEQCVRK | 1 | Arabidopsis thaliana | E103 | MSALVERAIEA | 1 | Mus musculus | E107 | LERAVEALQGE | 1 | Homo sapiens | E107 | YEQCVRKFWHS | 1 | Arabidopsis thaliana | E107 | VERAIEALQGE | 1 | Mus musculus | L128 | NLWLKLGRLCN | 1 | Homo sapiens | L128 | KVWLEYAEHCA | 1 | Arabidopsis thaliana | L128 | SLWIKLGHLCN | 1 | Mus musculus | L131 | LKLGRLCNEPL | 1 | Homo sapiens | L131 | LEYAEHCADAE | 1 | Arabidopsis thaliana | L131 | IKLGHLCNEPL | 1 | Mus musculus | M138 | NEPLDMYSYLH | 1 | Homo sapiens | M138 | ADAEVIYKFLE | 1 | Arabidopsis thaliana | M138 | NEPLDMYSYLQ | 1 | Mus musculus | N133 | LGRLCNEPLDM | 1 | Homo sapiens | N133 | YAEHCADAEVI | 1 | Arabidopsis thaliana | N133 | LGHLCNEPLDM | 1 | Mus musculus | S99 | KESNMSTLLER | 1 | Homo sapiens | S99 | ECSGLLVIYEQ | 1 | Arabidopsis thaliana | S99 | KESNMSALVER | 1 | Mus musculus | V106 | LLERAVEALQG | 1 | Homo sapiens | V106 | IYEQCVRKFWH | 1 | Arabidopsis thaliana | V106 | LVERAIEALQG | 1 | Mus musculus | W125 | RFLNLWLKLGR | 1 | Homo sapiens | W125 | RYLKVWLEYAE | 1 | Arabidopsis thaliana | W125 | RFLSLWIKLGH | 1 | Mus musculus | Y141 | LDMYSYLHNQG | 1 | Homo sapiens | Y141 | EVIYKFLEVNE | 1 | Arabidopsis thaliana | Y141 | LDMYSYLQSQG | 1 | Mus musculus |
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