mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for SETD7
Gene summary
Basic gene Info.Gene symbolSETD7
Gene nameSET domain containing (lysine methyltransferase) 7
CytomapUCSC genome browser: 4q28
Type of geneprotein-coding
DescriptionH3-K4-HMTase SETD7SET domain-containing protein 7histone H3-K4 methyltransferase SETD7histone H3-lysine 4-specific methyltransferasehistone-lysine N-methyltransferase SETD7lysine N-methyltransferase 7
Modification date20141207
dbXrefs MIM : 606594
Ensembl : ENSG00000145391
HPRD : 16226
Vega : OTTHUMG00000133385
ProteinUniProt: Q8WTS6
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SETD7
BioGPS: 80854
PathwayNCI Pathway Interaction Database: SETD7
Pathway Commons: SETD7
ContextiHOP: SETD7
ligand binding site mutation search in PubMed: SETD7
UCL Cancer Institute: SETD7
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006974cellular response to DNA damage stimulus-
GO:0018026peptidyl-lysine monomethylation17108971
GO:0018027peptidyl-lysine dimethylation17108971

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.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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.
LBSAAchange of nsSNVRelative stability change
(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

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)
* Left PPI network was created from samples with mutations in the LBS of SETD7 and the right PPI network was created from samples without mutations in the LBS of SETD7. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for SETD7
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for SETD7

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB01752S-Adenosyl-L-HomocysteineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of SETD7 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (THR,PRO,ARG,ARG,SER,LYS,SER,ALA)3os5AK344

Conservation information for LBS of SETD7
Multiple alignments for Q8WTS6 in multiple species
LBSAA sequence# speciesSpecies
A226SLISSAGEGLF2Homo sapiens, Mus musculus
A226SLISGAGEGLF1Danio rerio
A226SLIHNAGEGLF1Xenopus tropicalis
A295SLGHKANHSFT2Homo sapiens, Mus musculus
A295SLGHKANHSFS2Danio rerio, Xenopus tropicalis
A324IRTLRAVEADE1Homo sapiens
A324IRTIRAVEKDE1Danio rerio
A324IRTMKAVEKDE1Xenopus tropicalis
A324IRTLRAVEAEE1Mus musculus
D256THQEVDSRDWA2Homo sapiens, Mus musculus
D256THTEVDSRDWS1Danio rerio
D256THQEVDSREWA1Xenopus tropicalis
D270NTLSLDEETVI2Homo sapiens, Mus musculus
D270NTISLDEDTVI1Danio rerio
D270NTISLDDETVL1Xenopus tropicalis
D338VAYGYDHSPPG2Homo sapiens, Mus musculus
D338VAYGYDHEPSG1Danio rerio
D338VAYGYDHSVTG1Xenopus tropicalis
E228ISSAGEGLFSK2Homo sapiens, Mus musculus
E228ISGAGEGLFAQ1Danio rerio
E228IHNAGEGLFAK1Xenopus tropicalis
E271TLSLDEETVID2Homo sapiens, Mus musculus
E271TISLDEDTVID1Danio rerio
E271TISLDDETVLD1Xenopus tropicalis
E348GKSGPEAPEWY3Homo sapiens, Danio rerio, Mus musculus
E348GKNGPEAPEWY1Xenopus tropicalis
E351GPEAPEWYQVE2Homo sapiens, Mus musculus
E351GPEAPEWYTKQ1Danio rerio
E351GPEAPEWYQQQ1Xenopus tropicalis
E356EWYQVELKAFQ2Homo sapiens, Mus musculus
E356EWYTKQFLEFQ1Danio rerio
E356EWYQQQLTAFQ1Xenopus tropicalis
G227LISSAGEGLFS2Homo sapiens, Mus musculus
G227LISGAGEGLFA1Danio rerio
G227LIHNAGEGLFA1Xenopus tropicalis
G264DWALNGNTLSL2Homo sapiens, Mus musculus
G264DWSMNGNTISL1Danio rerio
G264EWALNGNTISL1Xenopus tropicalis
G336LTVAYGYDHSP2Homo sapiens, Mus musculus
G336LTVAYGYDHEP1Danio rerio
G336LTVAYGYDHSV1Xenopus tropicalis
G346PPGKSGPEAPE2Homo sapiens, Mus musculus
G346PSGKSGPEAPE1Danio rerio
G346VTGKNGPEAPE1Xenopus tropicalis
H252GVRITHQEVDS3Homo sapiens, Xenopus tropicalis, Mus musculus
H252GVRITHTEVDS1Danio rerio
H283PEPYNHVSKYC2Homo sapiens, Mus musculus
H283PAPFNMTENYC1Danio rerio
H283PAPYNSYYKYC1Xenopus tropicalis
H293CASLGHKANHS3Homo sapiens, Xenopus tropicalis, Mus musculus
H293CGSLGHKANHS1Danio rerio
H297GHKANHSFTPN2Homo sapiens, Mus musculus
H297GHKANHSFSPN2Danio rerio, Xenopus tropicalis
H339AYGYDHSPPGK2Homo sapiens, Mus musculus
H339AYGYDHEPSGK1Danio rerio
H339AYGYDHSVTGK1Xenopus tropicalis
I223VAESLISSAGE1Homo sapiens
I223VGQSLISGAGE1Danio rerio
I223VNDSLIHNAGE1Xenopus tropicalis
I223VADSLISSAGE1Mus musculus
K294ASLGHKANHSF3Homo sapiens, Xenopus tropicalis, Mus musculus
K294GSLGHKANHSF1Danio rerio
K317RFGPIKCIRTL2Homo sapiens, Mus musculus
K317RFGQIKCIRTI1Danio rerio
K317RFGPIKCIRTM1Xenopus tropicalis
K344HSPPGKSGPEA2Homo sapiens, Mus musculus
K344HEPSGKSGPEA1Danio rerio
K344HSVTGKNGPEA1Xenopus tropicalis
L267LNGNTLSLDEE2Homo sapiens, Mus musculus
L267MNGNTISLDED1Danio rerio
L267LNGNTISLDDE1Xenopus tropicalis
N263RDWALNGNTLS2Homo sapiens, Mus musculus
N263RDWSMNGNTIS1Danio rerio
N263REWALNGNTIS1Xenopus tropicalis
N265WALNGNTLSLD2Homo sapiens, Mus musculus
N265WSMNGNTISLD1Danio rerio
N265WALNGNTISLD1Xenopus tropicalis
N282VPEPYNHVSKY2Homo sapiens, Mus musculus
N282VPAPFNMTENY1Danio rerio
N282VPAPYNSYYKY1Xenopus tropicalis
N296LGHKANHSFTP2Homo sapiens, Mus musculus
N296LGHKANHSFSP2Danio rerio, Xenopus tropicalis
P341GYDHSPPGKSG2Homo sapiens, Mus musculus
P341GYDHEPSGKSG1Danio rerio
P341GYDHSVTGKNG1Xenopus tropicalis
P347PGKSGPEAPEW2Homo sapiens, Mus musculus
P347SGKSGPEAPEW1Danio rerio
P347TGKNGPEAPEW1Xenopus tropicalis
R258QEVDSRDWALN2Homo sapiens, Mus musculus
R258TEVDSRDWSMN1Danio rerio
R258QEVDSREWALN1Xenopus tropicalis
R323CIRTLRAVEAD1Homo sapiens
R323CIRTIRAVEKD1Danio rerio
R323CIRTMKAVEKD1Xenopus tropicalis
R323CIRTLRAVEAE1Mus musculus
S174LATLMSTEEGR1Homo sapiens
S174LATLTTQENGR1Danio rerio
S174LAILTSVDEGK1Xenopus tropicalis
S174LATLMATEEGR1Mus musculus
S225ESLISSAGEGL1Homo sapiens
S225QSLISGAGEGL1Danio rerio
S225DSLIHNAGEGL1Xenopus tropicalis
S225DSLISSAGEGL1Mus musculus
S268NGNTLSLDEET2Homo sapiens, Mus musculus
S268NGNTISLDEDT1Danio rerio
S268NGNTISLDDET1Xenopus tropicalis
S285PYNHVSKYCAS2Homo sapiens, Mus musculus
S285PFNMTENYCGS1Danio rerio
S285PYNSYYKYCAS1Xenopus tropicalis
S340YGYDHSPPGKS2Homo sapiens, Mus musculus
S340YGYDHEPSGKS1Danio rerio
S340YGYDHSVTGKN1Xenopus tropicalis
S345SPPGKSGPEAP2Homo sapiens, Mus musculus
S345EPSGKSGPEAP1Danio rerio
S345SVTGKNGPEAP1Xenopus tropicalis
T175ATLMSTEEGRP1Homo sapiens
T175ATLTTQENGRP1Danio rerio
T175AILTSVDEGKP1Xenopus tropicalis
T175ATLMATEEGRP1Mus musculus
T266ALNGNTLSLDE2Homo sapiens, Mus musculus
T266SMNGNTISLDE1Danio rerio
T266ALNGNTISLDD1Xenopus tropicalis
V255ITHQEVDSRDW2Homo sapiens, Mus musculus
V255ITHTEVDSRDW1Danio rerio
V255ITHQEVDSREW1Xenopus tropicalis
V274LDEETVIDVPE2Homo sapiens, Mus musculus
V274LDEDTVIDVPA1Danio rerio
V274LDDETVLDVPA1Xenopus tropicalis
W260VDSRDWALNGN2Homo sapiens, Mus musculus
W260VDSRDWSMNGN1Danio rerio
W260VDSREWALNGN1Xenopus tropicalis
W352PEAPEWYQVEL2Homo sapiens, Mus musculus
W352PEAPEWYTKQF1Danio rerio
W352PEAPEWYQQQL1Xenopus tropicalis
Y245TVMSFYNGVRI3Homo sapiens, Xenopus tropicalis, Mus musculus
Y245TVMAFYNGVRI1Danio rerio
Y305TPNCIYDMFVH1Homo sapiens
Y305SPNCKYDQYVH1Danio rerio
Y305SPNCMYDTFVH1Xenopus tropicalis
Y305TPNCVYDLFVH1Mus musculus
Y335ELTVAYGYDHS3Homo sapiens, Xenopus tropicalis, Mus musculus
Y335ELTVAYGYDHE1Danio rerio
Y337TVAYGYDHSPP2Homo sapiens, Mus musculus
Y337TVAYGYDHEPS1Danio rerio
Y337TVAYGYDHSVT1Xenopus tropicalis

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