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mutLBSgeneDB |
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| Gene summary for SETD3 |
 Gene summary |
| Basic gene Info. | Gene symbol | SETD3 |
| Gene name | SET domain containing 3 | |
| Synonyms | C14orf154 | |
| Cytomap | UCSC genome browser: 14q32.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_032233.2, NM_199123.1, | |
| Description | SET domain-containing protein 3histone-lysine N-methyltransferase setd3 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 615671 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000183576 | ||
| HPRD : 08664 | ||
| Vega : OTTHUMG00000028970 | ||
| Protein | UniProt: Q86TU7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SETD3 | |
| BioGPS: 84193 | ||
| Pathway | NCI Pathway Interaction Database: SETD3 | |
| KEGG: SETD3 | ||
| REACTOME: SETD3 | ||
| Pathway Commons: SETD3 | ||
| Context | iHOP: SETD3 | |
| ligand binding site mutation search in PubMed: SETD3 | ||
| UCL Cancer Institute: SETD3 | ||
| 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 SETD3 |
| 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 | H279 | N281S | 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 SETD3 |
| 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 | H279 | N281S | -0.20073634 |
| (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 SETD3 from PDB |
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| Differential gene expression and gene-gene network for SETD3 |
| 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 SETD3 |
| 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 SETD3 |
| 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 SETD3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of SETD3 |
| Multiple alignments for Q86TU7 in multiple species |
| LBS | AA sequence | # species | Species | C277 | PLWDMCNHTNG | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus | D275 | LIPLWDMCNHT | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus | E103 | MVNFKEEGFGL | 2 | Homo sapiens, Mus musculus | E103 | ISNFADEGYGL | 1 | Danio rerio | E103 | LVEFPEEGFGL | 1 | Xenopus tropicalis | E103 | IANFEEEGFGL | 1 | Gallus gallus | E104 | VNFKEEGFGLR | 2 | Homo sapiens, Mus musculus | E104 | SNFADEGYGLK | 1 | Danio rerio | E104 | VEFPEEGFGLK | 1 | Xenopus tropicalis | E104 | ANFEEEGFGLK | 1 | Gallus gallus | F106 | FKEEGFGLRAT | 2 | Homo sapiens, Mus musculus | F106 | FADEGYGLKAT | 1 | Danio rerio | F106 | FPEEGFGLKAT | 1 | Xenopus tropicalis | F106 | FEEEGFGLKAT | 1 | Gallus gallus | F327 | VIHSGFFFDNN | 3 | Homo sapiens, Gallus gallus, Mus musculus | F327 | VIHNGFFFEDN | 1 | Danio rerio | F327 | VIHNGFFFENN | 1 | Xenopus tropicalis | F329 | HSGFFFDNNSH | 3 | Homo sapiens, Gallus gallus, Mus musculus | F329 | HNGFFFEDNAH | 1 | Danio rerio | F329 | HNGFFFENNLH | 1 | Xenopus tropicalis | H279 | WDMCNHTNGLI | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus | M276 | IPLWDMCNHTN | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus | N278 | LWDMCNHTNGL | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus | R254 | SSVMTRQNQIP | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus | R75 | TFDGKREDYFP | 2 | Homo sapiens, Mus musculus | R75 | SFEGIREDFFS | 1 | Danio rerio | R75 | VFDGKREDYFP | 1 | Xenopus tropicalis | R75 | VFDGKRDDYFP | 1 | Gallus gallus | S325 | EFVIHSGFFFD | 3 | Homo sapiens, Gallus gallus, Mus musculus | S325 | EFVIHNGFFFE | 2 | Danio rerio, Xenopus tropicalis | T253 | VSSVMTRQNQI | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus | Y313 | QIYIFYGTRSN | 5 | Homo sapiens, Danio rerio, Xenopus tropicalis, Gallus gallus, Mus musculus |
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