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mutLBSgeneDB |
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| Gene summary for SETD6 |
 Gene summary |
| Basic gene Info. | Gene symbol | SETD6 |
| Gene name | SET domain containing 6 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 16q21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001160305.1, NM_024860.2, | |
| Description | N-lysine methyltransferase SETD6SET domain-containing protein 6 | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| HPRD : 07956 | ||
| Protein | UniProt: Q8TBK2 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SETD6 | |
| BioGPS: 79918 | ||
| Pathway | NCI Pathway Interaction Database: SETD6 | |
| KEGG: SETD6 | ||
| REACTOME: SETD6 | ||
| Pathway Commons: SETD6 | ||
| Context | iHOP: SETD6 | |
| ligand binding site mutation search in PubMed: SETD6 | ||
| UCL Cancer Institute: SETD6 | ||
| 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:0018026 | peptidyl-lysine monomethylation | 21131967 |
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| Ligand binding site mutations for SETD6 |
| 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 | N239 | E237Q | BLCA | 1 | M296 | M296T | GBM | 1 | S240 | S240C | KIRC | 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 SETD6 |
| 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 | M296 | M296T | -1.6878253 | N239 | E237Q | -1.0173319 | S240 | S240C | -0.62100554 |
| (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 SETD6 from PDB |
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| Differential gene expression and gene-gene network for SETD6 |
| 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 SETD6 |
| 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 SETD6 |
| 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 SETD6 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (GLU,THR,PHE,LYS,SER,ILE) | 3rc0 | A | N239 S240 M296 |
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| Conservation information for LBS of SETD6 |
| Multiple alignments for Q8TBK2 in multiple species |
| LBS | AA sequence | # species | Species | A222 | VALVMAYSFQE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | A222 | VAFVMAYSFQE | 2 | Danio rerio, Xenopus tropicalis | A73 | RQGTVAGYGMV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | A73 | KEGTAAEYGML | 1 | Danio rerio | A73 | TEGTVSQYGML | 1 | Xenopus tropicalis | D248 | MVPAADILNHL | 2 | Homo sapiens, Bos taurus | D248 | MVPAADILNHI | 2 | Mus musculus, Rattus norvegicus | D248 | MVPMADMLNHI | 1 | Danio rerio | D248 | MVPVADLLNHV | 1 | Xenopus tropicalis | F225 | VMAYSFQEPL- | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | F225 | VMAYSFQEPVE | 1 | Danio rerio | F225 | VMAYSFQEPQE | 1 | Xenopus tropicalis | F299 | IHMYGFAEPYP | 3 | Mus musculus, Rattus norvegicus, Bos taurus | F299 | IHMYGFVEPYP | 1 | Homo sapiens | F299 | LHMYGFAEPFP | 1 | Danio rerio | F299 | LHMYGFAEPHP | 1 | Xenopus tropicalis | G74 | QGTVAGYGMVA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G74 | EGTAAEYGMLA | 1 | Danio rerio | G74 | EGTVSQYGMLA | 1 | Xenopus tropicalis | H252 | ADILNHLANHN | 2 | Homo sapiens, Bos taurus | H252 | ADILNHIANHN | 2 | Mus musculus, Rattus norvegicus | H252 | ADMLNHISKHN | 1 | Danio rerio | H252 | ADLLNHVAQHN | 1 | Xenopus tropicalis | I249 | VPAADILNHLA | 2 | Homo sapiens, Bos taurus | I249 | VPAADILNHIA | 2 | Mus musculus, Rattus norvegicus | I249 | VPMADMLNHIS | 1 | Danio rerio | I249 | VPVADLLNHVA | 1 | Xenopus tropicalis | L250 | PAADILNHLAN | 2 | Homo sapiens, Bos taurus | L250 | PAADILNHIAN | 2 | Mus musculus, Rattus norvegicus | L250 | PMADMLNHISK | 1 | Danio rerio | L250 | PVADLLNHVAQ | 1 | Xenopus tropicalis | L260 | NHNANLEYSAN | 1 | Homo sapiens | L260 | KHNANLEYTPE | 1 | Danio rerio | L260 | QHNAHLEFTPE | 1 | Xenopus tropicalis | L260 | NHNANLEYSAD | 1 | Mus musculus | L260 | NHNANLEYSAE | 1 | Rattus norvegicus | L260 | NHNANLEYSPT | 1 | Bos taurus | M288 | NTYGQMANWQL | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus | M296 | WQLIHMYGFAE | 3 | Mus musculus, Rattus norvegicus, Bos taurus | M296 | WQLLHMYGFAE | 2 | Danio rerio, Xenopus tropicalis | M296 | WQLIHMYGFVE | 1 | Homo sapiens | N239 | DEKEPNSPLMV | 3 | Mus musculus, Rattus norvegicus, Bos taurus | N239 | DEKEPNSPVMV | 1 | Homo sapiens | N239 | DEKKPNLPMMV | 1 | Danio rerio | N239 | IEKDILPPMMV | 1 | Xenopus tropicalis | N251 | AADILNHLANH | 2 | Homo sapiens, Bos taurus | N251 | AADILNHIANH | 2 | Mus musculus, Rattus norvegicus | N251 | MADMLNHISKH | 1 | Danio rerio | N251 | VADLLNHVAQH | 1 | Xenopus tropicalis | N259 | ANHNANLEYSA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N259 | SKHNANLEYTP | 1 | Danio rerio | N259 | AQHNAHLEFTP | 1 | Xenopus tropicalis | N259 | ANHNANLEYSP | 1 | Bos taurus | N283 | GHEIFNTYGQM | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N283 | GEEVFNTYGQM | 1 | Danio rerio | N283 | GQELFNTYGQM | 1 | Xenopus tropicalis | P241 | KEPNSPLMVPA | 3 | Mus musculus, Rattus norvegicus, Bos taurus | P241 | KEPNSPVMVPA | 1 | Homo sapiens | P241 | KKPNLPMMVPM | 1 | Danio rerio | P241 | KDILPPMMVPV | 1 | Xenopus tropicalis | Q226 | MAYSFQEPL-- | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Q226 | MAYSFQEPVED | 1 | Danio rerio | Q226 | MAYSFQEPQEE | 1 | Xenopus tropicalis | S224 | LVMAYSFQEPL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S224 | FVMAYSFQEPV | 1 | Danio rerio | S224 | FVMAYSFQEPQ | 1 | Xenopus tropicalis | S240 | EKEPNSPLMVP | 3 | Mus musculus, Rattus norvegicus, Bos taurus | S240 | EKEPNSPVMVP | 1 | Homo sapiens | S240 | EKKPNLPMMVP | 1 | Danio rerio | S240 | EKDILPPMMVP | 1 | Xenopus tropicalis | T284 | HEIFNTYGQMA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T284 | EEVFNTYGQMA | 1 | Danio rerio | T284 | QELFNTYGQMA | 1 | Xenopus tropicalis | V72 | SRQGTVAGYGM | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V72 | SKEGTAAEYGM | 1 | Danio rerio | V72 | STEGTVSQYGM | 1 | Xenopus tropicalis | W122 | QSQSGWVPLLL | 2 | Homo sapiens, Bos taurus | W122 | QSLSGWVPLLL | 2 | Mus musculus, Rattus norvegicus | W122 | ESASGWVPLLL | 1 | Danio rerio | W122 | QSCSGWVPLLI | 1 | Xenopus tropicalis | Y223 | ALVMAYSFQEP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y223 | AFVMAYSFQEP | 2 | Danio rerio, Xenopus tropicalis | Y262 | NANLEYSANCL | 1 | Homo sapiens | Y262 | NANLEYTPECL | 1 | Danio rerio | Y262 | NAHLEFTPECL | 1 | Xenopus tropicalis | Y262 | NANLEYSADYL | 1 | Mus musculus | Y262 | NANLEYSAEYL | 1 | Rattus norvegicus | Y262 | NANLEYSPTCL | 1 | Bos taurus | Y285 | EIFNTYGQMAN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y285 | EVFNTYGQMAN | 1 | Danio rerio | Y285 | ELFNTYGQMAN | 1 | Xenopus tropicalis | Y297 | QLIHMYGFAEP | 3 | Mus musculus, Rattus norvegicus, Bos taurus | Y297 | QLLHMYGFAEP | 2 | Danio rerio, Xenopus tropicalis | Y297 | QLIHMYGFVEP | 1 | Homo sapiens | Y75 | GTVAGYGMVAR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y75 | GTAAEYGMLAK | 1 | Danio rerio | Y75 | GTVSQYGMLAR | 1 | Xenopus tropicalis |
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