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mutLBSgeneDB |
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| Gene summary for CLEC4E |
 Gene summary |
| Basic gene Info. | Gene symbol | CLEC4E |
| Gene name | C-type lectin domain family 4, member E | |
| Synonyms | CLECSF9|MINCLE | |
| Cytomap | UCSC genome browser: 12p13.31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_014358.2, | |
| Description | C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9C-type lectin domain family 4 member EC-type lectin superfamily member 9macrophage-inducible C-type lectin | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 609962 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000166523 | ||
| HPRD : 13075 | ||
| Vega : OTTHUMG00000168675 | ||
| Protein | UniProt: Q9ULY5 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CLEC4E | |
| BioGPS: 26253 | ||
| Pathway | NCI Pathway Interaction Database: CLEC4E | |
| KEGG: CLEC4E | ||
| REACTOME: CLEC4E | ||
| Pathway Commons: CLEC4E | ||
| Context | iHOP: CLEC4E | |
| ligand binding site mutation search in PubMed: CLEC4E | ||
| UCL Cancer Institute: CLEC4E | ||
| 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 CLEC4E |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V117 | V116L | LUSC | 1 | E123 | E125K | SKCM | 1 | T196 | T196A | SKCM | 1 | E123 | E122K | SKCM | 1 | R183 | S185Y | 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 CLEC4E |
| 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 | T196 | T196A | -1.2726328 | E123 | E122K | -0.99966929 | R183 | S185Y | -0.74941222 | V117 | V116L | -0.72920449 | E123 | E125K | -0.60353106 |
| (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 CLEC4E from PDB |
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| Differential gene expression and gene-gene network for CLEC4E |
| 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 CLEC4E |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0270611 | Brain Injuries | 1 | Biomarker |
| umls:C0024115 | Lung Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CLEC4E |
| 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 CLEC4E go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FLC | CITRATE(3-) | 3wh2 | A | R183 T196 | CA | CALCIUM(2+) | 3wh2 | A | V117 E123 | CA | CALCIUM(2+) | 3wh3 | A | V117 E123 |
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| Conservation information for LBS of CLEC4E |
| Multiple alignments for Q9ULY5 in multiple species |
| LBS | AA sequence | # species | Species | D194 | RQNWNDVTCFL | 1 | Homo sapiens | D194 | RKNWNDIPCFY | 1 | Mus musculus | D194 | RKNWNDVSCFF | 1 | Rattus norvegicus | E123 | INSQEEQEFLS | 1 | Homo sapiens | E123 | IDTQEEQEFLF | 1 | Mus musculus | E123 | INTWEEQEFLF | 1 | Rattus norvegicus | E169 | FWDAGEPNNIV | 2 | Mus musculus, Rattus norvegicus | E169 | FWDVGEPNNIA | 1 | Homo sapiens | E206 | MPWICEMPEIS | 2 | Mus musculus, Rattus norvegicus | E206 | YFRICEMVGIN | 1 | Homo sapiens | L199 | DVTCFLNYFRI | 1 | Homo sapiens | L199 | DIPCFYSMPWI | 1 | Mus musculus | L199 | DVSCFFSMPWI | 1 | Rattus norvegicus | N119 | HLVVINSQEEQ | 1 | Homo sapiens | N119 | HLVVIDTQEEQ | 1 | Mus musculus | N119 | HLVVINTWEEQ | 1 | Rattus norvegicus | N171 | DVGEPNNIATL | 1 | Homo sapiens | N171 | DAGEPNNIVLV | 1 | Mus musculus | N171 | DAGEPNNIVFV | 1 | Rattus norvegicus | N172 | VGEPNNIATLE | 1 | Homo sapiens | N172 | AGEPNNIVLVE | 1 | Mus musculus | N172 | AGEPNNIVFVE | 1 | Rattus norvegicus | N193 | PRQNWNDVTCF | 1 | Homo sapiens | N193 | SRKNWNDIPCF | 1 | Mus musculus | N193 | PRKNWNDVSCF | 1 | Rattus norvegicus | R183 | DCATMRDSSNP | 2 | Homo sapiens, Rattus norvegicus | R183 | DCATIRDSSNS | 1 | Mus musculus | T196 | NWNDVTCFLNY | 1 | Homo sapiens | T196 | NWNDIPCFYSM | 1 | Mus musculus | T196 | NWNDVSCFFSM | 1 | Rattus norvegicus | V117 | GAHLVVINSQE | 1 | Homo sapiens | V117 | GAHLVVIDTQE | 1 | Mus musculus | V117 | GAHLVVINTWE | 1 | Rattus norvegicus | V195 | QNWNDVTCFLN | 1 | Homo sapiens | V195 | KNWNDIPCFYS | 1 | Mus musculus | V195 | KNWNDVSCFFS | 1 | Rattus norvegicus |
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