mutLBSgeneDB |
Gene summary for CUL4B |
Gene summary |
Basic gene Info. | Gene symbol | CUL4B |
Gene name | cullin 4B | |
Synonyms | CUL-4B|MRXHF2|MRXS15|MRXSC|SFM2 | |
Cytomap | UCSC genome browser: Xq23 | |
Type of gene | protein-coding | |
RefGenes | NM_001079872.1, NM_003588.3, | |
Description | cullin-4B | |
Modification date | 20141207 | |
dbXrefs | MIM : 300304 | |
HGNC : HGNC | ||
Ensembl : ENSG00000158290 | ||
HPRD : 02251 | ||
Vega : OTTHUMG00000022302 | ||
Protein | UniProt: Q13620 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CUL4B | |
BioGPS: 8450 | ||
Pathway | NCI Pathway Interaction Database: CUL4B | |
KEGG: CUL4B | ||
REACTOME: CUL4B | ||
Pathway Commons: CUL4B | ||
Context | iHOP: CUL4B | |
ligand binding site mutation search in PubMed: CUL4B | ||
UCL Cancer Institute: CUL4B | ||
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 | GO:0035518 | histone H2A monoubiquitination | 22334663 | GO:0070914 | UV-damage excision repair | 22334663 |
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Ligand binding site mutations for CUL4B |
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 | D812 | E812K | COAD | 1 | F736 | M737I | COAD | 1 | H729 | L729P | UCEC | 1 | T678 | H678Y | UCEC | 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 CUL4B |
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 |
(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 CUL4B from PDB |
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Differential gene expression and gene-gene network for CUL4B |
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 CUL4B |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C1845861 | Mental Retardation, X-Linked, With Brachydactyly And Macroglossia | 2 | Biomarker, GeneticVariation |
umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for CUL4B |
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 CUL4B go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (LYS,LYS,ARG,PHE,GLU,VAL,LYS,LYS,TRP,ASN,ALA,VAL,ALA,LEU,TRP,ALA,TRP,ASP,ILE,VAL,VAL) | 4a0l | E | T678 H729 F736 D812 | III | Peptide ligand (LYS,LYS,ARG,PHE,GLU,VAL,LYS,LYS,TRP,ASN,ALA,VAL,ALA,LEU,TRP,ALA,TRP,ASP,ILE,VAL,VAL) | 4a0l | H | T678 H729 F736 D812 |
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Conservation information for LBS of CUL4B |
Multiple alignments for Q13620 in multiple species |
LBS | AA sequence | # species | Species | A734 | HCVLKAEFKEG | 2 | Homo sapiens, Mus musculus | A734 | HCVLKADFSKG | 1 | Arabidopsis thaliana | C730 | STLGHCVLKAE | 2 | Homo sapiens, Mus musculus | C730 | NSLGHCVLKAD | 1 | Arabidopsis thaliana | C810 | GDKFICNDDFK | 2 | Homo sapiens, Mus musculus | C810 | GDEFEFNDEFA | 1 | Arabidopsis thaliana | D812 | KFICNDDFKHK | 2 | Homo sapiens, Mus musculus | D812 | EFEFNDEFAAP | 1 | Arabidopsis thaliana | E676 | VPGNIELTVNI | 2 | Homo sapiens, Mus musculus | E676 | LPSGIEMSVHV | 1 | Arabidopsis thaliana | E735 | CVLKAEFKEGK | 2 | Homo sapiens, Mus musculus | E735 | CVLKADFSKGK | 1 | Arabidopsis thaliana | E742 | KEGKKELQVSL | 2 | Homo sapiens, Mus musculus | E742 | SKGKKELAVSL | 1 | Arabidopsis thaliana | E760 | MFNEGEEFSLE | 2 | Homo sapiens, Mus musculus | E760 | LFNDAMKLSFE | 1 | Arabidopsis thaliana | F736 | VLKAEFKEGKK | 2 | Homo sapiens, Mus musculus | F736 | VLKADFSKGKK | 1 | Arabidopsis thaliana | G718 | LGKHSGRKLQW | 2 | Homo sapiens, Mus musculus | G718 | LSKYSGRRLMW | 1 | Arabidopsis thaliana | G728 | WQSTLGHCVLK | 2 | Homo sapiens, Mus musculus | G728 | WQNSLGHCVLK | 1 | Arabidopsis thaliana | H729 | QSTLGHCVLKA | 2 | Homo sapiens, Mus musculus | H729 | QNSLGHCVLKA | 1 | Arabidopsis thaliana | I675 | NVPGNIELTVN | 2 | Homo sapiens, Mus musculus | I675 | KLPSGIEMSVH | 1 | Arabidopsis thaliana | I681 | ELTVNILTMGY | 2 | Homo sapiens, Mus musculus | I681 | EMSVHVLTTGY | 1 | Arabidopsis thaliana | K720 | KHSGRKLQWQS | 2 | Homo sapiens, Mus musculus | K720 | KYSGRRLMWQN | 1 | Arabidopsis thaliana | K733 | GHCVLKAEFKE | 2 | Homo sapiens, Mus musculus | K733 | GHCVLKADFSK | 1 | Arabidopsis thaliana | L677 | PGNIELTVNIL | 2 | Homo sapiens, Mus musculus | L677 | PSGIEMSVHVL | 1 | Arabidopsis thaliana | L682 | LTVNILTMGYW | 2 | Homo sapiens, Mus musculus | L682 | MSVHVLTTGYW | 1 | Arabidopsis thaliana | L721 | HSGRKLQWQST | 2 | Homo sapiens, Mus musculus | L721 | YSGRRLMWQNS | 1 | Arabidopsis thaliana | L727 | QWQSTLGHCVL | 2 | Homo sapiens, Mus musculus | L727 | MWQNSLGHCVL | 1 | Arabidopsis thaliana | L732 | LGHCVLKAEFK | 2 | Homo sapiens, Mus musculus | L732 | LGHCVLKADFS | 1 | Arabidopsis thaliana | L747 | ELQVSLFQTLV | 1 | Homo sapiens | L747 | ELAVSLFQAVV | 1 | Arabidopsis thaliana | L747 | ELQVSLFQTMV | 1 | Mus musculus | L753 | FQTLVLLMFNE | 1 | Homo sapiens | L753 | FQAVVLMLFND | 1 | Arabidopsis thaliana | L753 | FQTMVLLMFNE | 1 | Mus musculus | L754 | QTLVLLMFNEG | 1 | Homo sapiens | L754 | QAVVLMLFNDA | 1 | Arabidopsis thaliana | L754 | QTMVLLMFNEG | 1 | Mus musculus | M684 | VNILTMGYWPT | 2 | Homo sapiens, Mus musculus | M684 | VHVLTTGYWPT | 1 | Arabidopsis thaliana | M701 | HLPPEMVKLQE | 2 | Homo sapiens, Mus musculus | M701 | KLPHELNVYQD | 1 | Arabidopsis thaliana | N757 | VLLMFNEGEEF | 2 | Homo sapiens, Mus musculus | N757 | VLMLFNDAMKL | 1 | Arabidopsis thaliana | Q705 | EMVKLQEIFKT | 2 | Homo sapiens, Mus musculus | Q705 | ELNVYQDIFKE | 1 | Arabidopsis thaliana | Q722 | SGRKLQWQSTL | 2 | Homo sapiens, Mus musculus | Q722 | SGRRLMWQNSL | 1 | Arabidopsis thaliana | Q724 | RKLQWQSTLGH | 2 | Homo sapiens, Mus musculus | Q724 | RRLMWQNSLGH | 1 | Arabidopsis thaliana | R719 | GKHSGRKLQWQ | 2 | Homo sapiens, Mus musculus | R719 | SKYSGRRLMWQ | 1 | Arabidopsis thaliana | T678 | GNIELTVNILT | 2 | Homo sapiens, Mus musculus | T678 | SGIEMSVHVLT | 1 | Arabidopsis thaliana | V679 | NIELTVNILTM | 2 | Homo sapiens, Mus musculus | V679 | GIEMSVHVLTT | 1 | Arabidopsis thaliana | V731 | TLGHCVLKAEF | 2 | Homo sapiens, Mus musculus | V731 | SLGHCVLKADF | 1 | Arabidopsis thaliana | W723 | GRKLQWQSTLG | 2 | Homo sapiens, Mus musculus | W723 | GRRLMWQNSLG | 1 | Arabidopsis thaliana | Y712 | IFKTFYLGKHS | 2 | Homo sapiens, Mus musculus | Y712 | IFKEFYLSKYS | 1 | Arabidopsis thaliana |
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