mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for CD1B
Gene summary
Basic gene Info.Gene symbolCD1B
Gene nameCD1b molecule
SynonymsCD1|CD1A|R1
CytomapUCSC genome browser: 1q23.1
Type of geneprotein-coding
RefGenesNM_001764.2,
DescriptionCD1B antigen, b polypeptideT-cell surface glycoprotein CD1bcortical thymocyte antigen CD1Bdifferentiation antigen CD1-alpha-3
Modification date20141207
dbXrefs MIM : 188360
HGNC : HGNC
Ensembl : ENSG00000158485
HPRD : 01775
Vega : OTTHUMG00000017513
ProteinUniProt: P29016
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CD1B
BioGPS: 910
PathwayNCI Pathway Interaction Database: CD1B
KEGG: CD1B
REACTOME: CD1B
Pathway Commons: CD1B
ContextiHOP: CD1B
ligand binding site mutation search in PubMed: CD1B
UCL Cancer Institute: CD1B
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for CD1B
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
LBSAAchange of nsSNVCancer type# samples
W41W41LLUAD2
G94G94VBRCA1
W58W58CCOAD1
Q32T33ACOAD1
W41T40ACOAD1
N193,L189V191IGBM1
I87E86QHNSC1
R97R97LLUAD1
L84E85QLUAD1
H56H56NLUAD1
C149C149FLUAD1
W41,T37S39GLUSC1
F102G104RLUSC1
C149V150MLUSC1
F28,V30H29YSKCM1
F141L142MSKCM1
A147,C149S148LSKCM1
F28S27FSKCM1
H56H56YSKCM1
T175,M173E174KSKCM1
F162F162LSTAD1
F162F162CUCEC1
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 CD1B
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.
LBSAAchange of nsSNVRelative stability change
I87E86Q-1.4612827
F141L142M-1.4229768
W58W58C-1.2258696
Q32T33A-1.1933777
L189V191I-1.080593
N193V191I-1.080593
W41T40A-1.0319242
H56H56N-0.99434255
C149V150M-0.85676313
T175E174K-0.84615765
M173E174K-0.84615765
A147S148L-0.6487
C149S148L-0.6487
F102G104R-0.5948255
H56H56Y-0.587709
G94G94V-0.56822272
F162F162C-0.54445016
F28H29Y-0.53738335
V30H29Y-0.53738335
F28S27F-0.4553777
W41W41L-0.43670472
W41S39G-0.38236213
T37S39G-0.38236213
L84E85Q-0.35527221
R97R97L-0.23284494
C149C149F-0.21078642
F162F162L-0.095759673
(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 CD1B from PDB
PDB IDPDB titlePDB structure
1GZQCD1B IN COMPLEX WITH PHOPHATIDYLINOSITOL

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Differential gene expression and gene-gene network for CD1B
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)
* Left PPI network was created from samples with mutations in the LBS of CD1B and the right PPI network was created from samples without mutations in the LBS of CD1B. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for CD1B
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for CD1B
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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CD1B go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
PMK(4R,8S,16S,20R)-4,8,12,16,20-PENTAMETHYLHEPTACOSYL DIHYDROGEN PHOSPHATE4onoAL189


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Conservation information for LBS of CD1B
Multiple alignments for P29016 in multiple species
LBSAA sequence# speciesSpecies


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