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mutLBSgeneDB |
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| Gene summary for SETD7 |
 Gene summary |
| Basic gene Info. | Gene symbol | SETD7 |
| Gene name | SET domain containing (lysine methyltransferase) 7 | |
| Synonyms | KMT7|SET7|SET7/9|SET9 | |
| Cytomap | UCSC genome browser: 4q28 | |
| Type of gene | protein-coding | |
| RefGenes | NM_030648.2, | |
| Description | H3-K4-HMTase SETD7SET domain-containing protein 7histone H3-K4 methyltransferase SETD7histone H3-lysine 4-specific methyltransferasehistone-lysine N-methyltransferase SETD7lysine N-methyltransferase 7 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606594 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000145391 | ||
| HPRD : 16226 | ||
| Vega : OTTHUMG00000133385 | ||
| Protein | UniProt: Q8WTS6 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SETD7 | |
| BioGPS: 80854 | ||
| Pathway | NCI Pathway Interaction Database: SETD7 | |
| KEGG: SETD7 | ||
| REACTOME: SETD7 | ||
| Pathway Commons: SETD7 | ||
| Context | iHOP: SETD7 | |
| ligand binding site mutation search in PubMed: SETD7 | ||
| UCL Cancer Institute: SETD7 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006974 | cellular response to DNA damage stimulus | - | GO:0018026 | peptidyl-lysine monomethylation | 17108971 | GO:0018027 | peptidyl-lysine dimethylation | 17108971 |
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| Ligand binding site mutations for SETD7 |
| 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 | N282 | P280R | HNSC | 1 | K344 | G343V | OV | 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 SETD7 |
| 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 | N282 | P280R | -1.6163321 | K344 | G343V | -0.37837955 |
| (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 SETD7 from PDB |
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| Differential gene expression and gene-gene network for SETD7 |
| 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 SETD7 |
| 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 SETD7 |
| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB01752 | S-Adenosyl-L-Homocysteine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SETD7 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (THR,PRO,ARG,ARG,SER,LYS,SER,ALA) | 3os5 | A | K344 | K15 | 5'-{[(3S)-3-AMINO-3-CARBOXYPROPYL](HEXYL)AMINO}-5'- DEOXYADENOSINE | 3vuz | A | N282 |
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| Conservation information for LBS of SETD7 |
| Multiple alignments for Q8WTS6 in multiple species |
| LBS | AA sequence | # species | Species | A226 | SLISSAGEGLF | 2 | Homo sapiens, Mus musculus | A226 | SLISGAGEGLF | 1 | Danio rerio | A226 | SLIHNAGEGLF | 1 | Xenopus tropicalis | A295 | SLGHKANHSFT | 2 | Homo sapiens, Mus musculus | A295 | SLGHKANHSFS | 2 | Danio rerio, Xenopus tropicalis | A324 | IRTLRAVEADE | 1 | Homo sapiens | A324 | IRTIRAVEKDE | 1 | Danio rerio | A324 | IRTMKAVEKDE | 1 | Xenopus tropicalis | A324 | IRTLRAVEAEE | 1 | Mus musculus | D256 | THQEVDSRDWA | 2 | Homo sapiens, Mus musculus | D256 | THTEVDSRDWS | 1 | Danio rerio | D256 | THQEVDSREWA | 1 | Xenopus tropicalis | D270 | NTLSLDEETVI | 2 | Homo sapiens, Mus musculus | D270 | NTISLDEDTVI | 1 | Danio rerio | D270 | NTISLDDETVL | 1 | Xenopus tropicalis | D338 | VAYGYDHSPPG | 2 | Homo sapiens, Mus musculus | D338 | VAYGYDHEPSG | 1 | Danio rerio | D338 | VAYGYDHSVTG | 1 | Xenopus tropicalis | E228 | ISSAGEGLFSK | 2 | Homo sapiens, Mus musculus | E228 | ISGAGEGLFAQ | 1 | Danio rerio | E228 | IHNAGEGLFAK | 1 | Xenopus tropicalis | E271 | TLSLDEETVID | 2 | Homo sapiens, Mus musculus | E271 | TISLDEDTVID | 1 | Danio rerio | E271 | TISLDDETVLD | 1 | Xenopus tropicalis | E348 | GKSGPEAPEWY | 3 | Homo sapiens, Danio rerio, Mus musculus | E348 | GKNGPEAPEWY | 1 | Xenopus tropicalis | E351 | GPEAPEWYQVE | 2 | Homo sapiens, Mus musculus | E351 | GPEAPEWYTKQ | 1 | Danio rerio | E351 | GPEAPEWYQQQ | 1 | Xenopus tropicalis | E356 | EWYQVELKAFQ | 2 | Homo sapiens, Mus musculus | E356 | EWYTKQFLEFQ | 1 | Danio rerio | E356 | EWYQQQLTAFQ | 1 | Xenopus tropicalis | G227 | LISSAGEGLFS | 2 | Homo sapiens, Mus musculus | G227 | LISGAGEGLFA | 1 | Danio rerio | G227 | LIHNAGEGLFA | 1 | Xenopus tropicalis | G264 | DWALNGNTLSL | 2 | Homo sapiens, Mus musculus | G264 | DWSMNGNTISL | 1 | Danio rerio | G264 | EWALNGNTISL | 1 | Xenopus tropicalis | G336 | LTVAYGYDHSP | 2 | Homo sapiens, Mus musculus | G336 | LTVAYGYDHEP | 1 | Danio rerio | G336 | LTVAYGYDHSV | 1 | Xenopus tropicalis | G346 | PPGKSGPEAPE | 2 | Homo sapiens, Mus musculus | G346 | PSGKSGPEAPE | 1 | Danio rerio | G346 | VTGKNGPEAPE | 1 | Xenopus tropicalis | H252 | GVRITHQEVDS | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | H252 | GVRITHTEVDS | 1 | Danio rerio | H283 | PEPYNHVSKYC | 2 | Homo sapiens, Mus musculus | H283 | PAPFNMTENYC | 1 | Danio rerio | H283 | PAPYNSYYKYC | 1 | Xenopus tropicalis | H293 | CASLGHKANHS | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | H293 | CGSLGHKANHS | 1 | Danio rerio | H297 | GHKANHSFTPN | 2 | Homo sapiens, Mus musculus | H297 | GHKANHSFSPN | 2 | Danio rerio, Xenopus tropicalis | H339 | AYGYDHSPPGK | 2 | Homo sapiens, Mus musculus | H339 | AYGYDHEPSGK | 1 | Danio rerio | H339 | AYGYDHSVTGK | 1 | Xenopus tropicalis | I223 | VAESLISSAGE | 1 | Homo sapiens | I223 | VGQSLISGAGE | 1 | Danio rerio | I223 | VNDSLIHNAGE | 1 | Xenopus tropicalis | I223 | VADSLISSAGE | 1 | Mus musculus | K294 | ASLGHKANHSF | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | K294 | GSLGHKANHSF | 1 | Danio rerio | K317 | RFGPIKCIRTL | 2 | Homo sapiens, Mus musculus | K317 | RFGQIKCIRTI | 1 | Danio rerio | K317 | RFGPIKCIRTM | 1 | Xenopus tropicalis | K344 | HSPPGKSGPEA | 2 | Homo sapiens, Mus musculus | K344 | HEPSGKSGPEA | 1 | Danio rerio | K344 | HSVTGKNGPEA | 1 | Xenopus tropicalis | L267 | LNGNTLSLDEE | 2 | Homo sapiens, Mus musculus | L267 | MNGNTISLDED | 1 | Danio rerio | L267 | LNGNTISLDDE | 1 | Xenopus tropicalis | N263 | RDWALNGNTLS | 2 | Homo sapiens, Mus musculus | N263 | RDWSMNGNTIS | 1 | Danio rerio | N263 | REWALNGNTIS | 1 | Xenopus tropicalis | N265 | WALNGNTLSLD | 2 | Homo sapiens, Mus musculus | N265 | WSMNGNTISLD | 1 | Danio rerio | N265 | WALNGNTISLD | 1 | Xenopus tropicalis | N282 | VPEPYNHVSKY | 2 | Homo sapiens, Mus musculus | N282 | VPAPFNMTENY | 1 | Danio rerio | N282 | VPAPYNSYYKY | 1 | Xenopus tropicalis | N296 | LGHKANHSFTP | 2 | Homo sapiens, Mus musculus | N296 | LGHKANHSFSP | 2 | Danio rerio, Xenopus tropicalis | P341 | GYDHSPPGKSG | 2 | Homo sapiens, Mus musculus | P341 | GYDHEPSGKSG | 1 | Danio rerio | P341 | GYDHSVTGKNG | 1 | Xenopus tropicalis | P347 | PGKSGPEAPEW | 2 | Homo sapiens, Mus musculus | P347 | SGKSGPEAPEW | 1 | Danio rerio | P347 | TGKNGPEAPEW | 1 | Xenopus tropicalis | R258 | QEVDSRDWALN | 2 | Homo sapiens, Mus musculus | R258 | TEVDSRDWSMN | 1 | Danio rerio | R258 | QEVDSREWALN | 1 | Xenopus tropicalis | R323 | CIRTLRAVEAD | 1 | Homo sapiens | R323 | CIRTIRAVEKD | 1 | Danio rerio | R323 | CIRTMKAVEKD | 1 | Xenopus tropicalis | R323 | CIRTLRAVEAE | 1 | Mus musculus | S174 | LATLMSTEEGR | 1 | Homo sapiens | S174 | LATLTTQENGR | 1 | Danio rerio | S174 | LAILTSVDEGK | 1 | Xenopus tropicalis | S174 | LATLMATEEGR | 1 | Mus musculus | S225 | ESLISSAGEGL | 1 | Homo sapiens | S225 | QSLISGAGEGL | 1 | Danio rerio | S225 | DSLIHNAGEGL | 1 | Xenopus tropicalis | S225 | DSLISSAGEGL | 1 | Mus musculus | S268 | NGNTLSLDEET | 2 | Homo sapiens, Mus musculus | S268 | NGNTISLDEDT | 1 | Danio rerio | S268 | NGNTISLDDET | 1 | Xenopus tropicalis | S285 | PYNHVSKYCAS | 2 | Homo sapiens, Mus musculus | S285 | PFNMTENYCGS | 1 | Danio rerio | S285 | PYNSYYKYCAS | 1 | Xenopus tropicalis | S340 | YGYDHSPPGKS | 2 | Homo sapiens, Mus musculus | S340 | YGYDHEPSGKS | 1 | Danio rerio | S340 | YGYDHSVTGKN | 1 | Xenopus tropicalis | S345 | SPPGKSGPEAP | 2 | Homo sapiens, Mus musculus | S345 | EPSGKSGPEAP | 1 | Danio rerio | S345 | SVTGKNGPEAP | 1 | Xenopus tropicalis | T175 | ATLMSTEEGRP | 1 | Homo sapiens | T175 | ATLTTQENGRP | 1 | Danio rerio | T175 | AILTSVDEGKP | 1 | Xenopus tropicalis | T175 | ATLMATEEGRP | 1 | Mus musculus | T266 | ALNGNTLSLDE | 2 | Homo sapiens, Mus musculus | T266 | SMNGNTISLDE | 1 | Danio rerio | T266 | ALNGNTISLDD | 1 | Xenopus tropicalis | V255 | ITHQEVDSRDW | 2 | Homo sapiens, Mus musculus | V255 | ITHTEVDSRDW | 1 | Danio rerio | V255 | ITHQEVDSREW | 1 | Xenopus tropicalis | V274 | LDEETVIDVPE | 2 | Homo sapiens, Mus musculus | V274 | LDEDTVIDVPA | 1 | Danio rerio | V274 | LDDETVLDVPA | 1 | Xenopus tropicalis | W260 | VDSRDWALNGN | 2 | Homo sapiens, Mus musculus | W260 | VDSRDWSMNGN | 1 | Danio rerio | W260 | VDSREWALNGN | 1 | Xenopus tropicalis | W352 | PEAPEWYQVEL | 2 | Homo sapiens, Mus musculus | W352 | PEAPEWYTKQF | 1 | Danio rerio | W352 | PEAPEWYQQQL | 1 | Xenopus tropicalis | Y245 | TVMSFYNGVRI | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | Y245 | TVMAFYNGVRI | 1 | Danio rerio | Y305 | TPNCIYDMFVH | 1 | Homo sapiens | Y305 | SPNCKYDQYVH | 1 | Danio rerio | Y305 | SPNCMYDTFVH | 1 | Xenopus tropicalis | Y305 | TPNCVYDLFVH | 1 | Mus musculus | Y335 | ELTVAYGYDHS | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | Y335 | ELTVAYGYDHE | 1 | Danio rerio | Y337 | TVAYGYDHSPP | 2 | Homo sapiens, Mus musculus | Y337 | TVAYGYDHEPS | 1 | Danio rerio | Y337 | TVAYGYDHSVT | 1 | Xenopus tropicalis |
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