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mutLBSgeneDB |
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| Gene summary for CD1B |
 Gene summary |
| Basic gene Info. | Gene symbol | CD1B |
| Gene name | CD1b molecule | |
| Synonyms | CD1|CD1A|R1 | |
| Cytomap | UCSC genome browser: 1q23.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001764.2, | |
| Description | CD1B antigen, b polypeptideT-cell surface glycoprotein CD1bcortical thymocyte antigen CD1Bdifferentiation antigen CD1-alpha-3 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 188360 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000158485 | ||
| HPRD : 01775 | ||
| Vega : OTTHUMG00000017513 | ||
| Protein | UniProt: P29016 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CD1B | |
| BioGPS: 910 | ||
| Pathway | NCI Pathway Interaction Database: CD1B | |
| KEGG: CD1B | ||
| REACTOME: CD1B | ||
| Pathway Commons: CD1B | ||
| Context | iHOP: CD1B | |
| ligand binding site mutation search in PubMed: CD1B | ||
| UCL Cancer Institute: CD1B | ||
| 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 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | W41 | W41L | LUAD | 2 | G94 | G94V | BRCA | 1 | W58 | W58C | COAD | 1 | Q32 | T33A | COAD | 1 | W41 | T40A | COAD | 1 | N193,L189 | V191I | GBM | 1 | I87 | E86Q | HNSC | 1 | R97 | R97L | LUAD | 1 | L84 | E85Q | LUAD | 1 | H56 | H56N | LUAD | 1 | C149 | C149F | LUAD | 1 | W41,T37 | S39G | LUSC | 1 | F102 | G104R | LUSC | 1 | C149 | V150M | LUSC | 1 | F28,V30 | H29Y | SKCM | 1 | F141 | L142M | SKCM | 1 | A147,C149 | S148L | SKCM | 1 | F28 | S27F | SKCM | 1 | H56 | H56Y | SKCM | 1 | T175,M173 | E174K | SKCM | 1 | F162 | F162L | STAD | 1 | F162 | F162C | 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 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 |
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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 | I87 | E86Q | -1.4612827 | F141 | L142M | -1.4229768 | W58 | W58C | -1.2258696 | Q32 | T33A | -1.1933777 | L189 | V191I | -1.080593 | N193 | V191I | -1.080593 | W41 | T40A | -1.0319242 | H56 | H56N | -0.99434255 | C149 | V150M | -0.85676313 | T175 | E174K | -0.84615765 | M173 | E174K | -0.84615765 | A147 | S148L | -0.6487 | C149 | S148L | -0.6487 | F102 | G104R | -0.5948255 | H56 | H56Y | -0.587709 | G94 | G94V | -0.56822272 | F162 | F162C | -0.54445016 | F28 | H29Y | -0.53738335 | V30 | H29Y | -0.53738335 | F28 | S27F | -0.4553777 | W41 | W41L | -0.43670472 | W41 | S39G | -0.38236213 | T37 | S39G | -0.38236213 | L84 | E85Q | -0.35527221 | R97 | R97L | -0.23284494 | C149 | C149F | -0.21078642 | F162 | F162L | -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 ID | PDB title | PDB structure | 1GZQ | CD1B 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) |
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| Phenotype information for CD1B |
| 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 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. |
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| 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 CD1B go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PMK | (4R,8S,16S,20R)-4,8,12,16,20-PENTAMETHYLHEPTACOSYL DIHYDROGEN PHOSPHATE | 4ono | A | L189 |
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| Conservation information for LBS of CD1B |
| Multiple alignments for P29016 in multiple species |
| LBS | AA sequence | # species | Species |
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