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mutLBSgeneDB |
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| Gene summary for CLEC9A |
 Gene summary |
| Basic gene Info. | Gene symbol | CLEC9A |
| Gene name | C-type lectin domain family 9, member A | |
| Synonyms | DNGR1|UNQ9341 | |
| Cytomap | UCSC genome browser: 12p13.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_207345.2, | |
| Description | C-type lectin domain family 9 member AHEEE9341 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 612252 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000197992 | ||
| HPRD : 16723 | ||
| Vega : OTTHUMG00000168398 | ||
| Protein | UniProt: Q6UXN8 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CLEC9A | |
| BioGPS: 283420 | ||
| Pathway | NCI Pathway Interaction Database: CLEC9A | |
| KEGG: CLEC9A | ||
| REACTOME: CLEC9A | ||
| Pathway Commons: CLEC9A | ||
| Context | iHOP: CLEC9A | |
| ligand binding site mutation search in PubMed: CLEC9A | ||
| UCL Cancer Institute: CLEC9A | ||
| 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:0006898 | receptor-mediated endocytosis | 18408006 | GO:0050715 | positive regulation of cytokine secretion | 18408006 |
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| Ligand binding site mutations for CLEC9A |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E233 | Y235S | BLCA | 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 CLEC9A |
| 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 | E233 | Y235S | -0.64436633 |
| (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 CLEC9A from PDB |
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| Differential gene expression and gene-gene network for CLEC9A |
| 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 CLEC9A |
| 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 CLEC9A |
| 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 CLEC9A go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 3vpp | A | E233 | CA | CALCIUM(2+) | 3vpp | B | E233 |
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| Conservation information for LBS of CLEC9A |
| Multiple alignments for Q6UXN8 in multiple species |
| LBS | AA sequence | # species | Species | E152 | TLLQIESKEEM | 1 | Homo sapiens | E152 | SLFQIDSKEEM | 1 | Mus musculus | E152 | SLLQIDSKEEM | 1 | Rattus norvegicus | E156 | IESKEEMDFIT | 1 | Homo sapiens | E156 | IDSKEEMEFIS | 1 | Mus musculus | E156 | IDSKEEMEFIN | 1 | Rattus norvegicus | E233 | KYFICEKKAFG | 2 | Mus musculus, Rattus norvegicus | E233 | KYFICEKYALR | 1 | Homo sapiens | Q150 | GSTLLQIESKE | 1 | Homo sapiens | Q150 | GASLFQIDSKE | 1 | Mus musculus | Q150 | GDSLLQIDSKE | 1 | Rattus norvegicus |
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