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 SEPT6
Gene summary
Basic gene Info.Gene symbolSEPT6
Gene nameseptin 6
CytomapUCSC genome browser: Xq24
Type of geneprotein-coding
Descriptionseptin 2septin-6
Modification date20141207
dbXrefs MIM : 300683
Ensembl : ENSG00000125354
HPRD : 06716
Vega : OTTHUMG00000022280
ProteinUniProt: Q14141
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SEPT6
BioGPS: 23157
PathwayNCI Pathway Interaction Database: SEPT6
Pathway Commons: SEPT6
ContextiHOP: SEPT6
ligand binding site mutation search in PubMed: SEPT6
UCL Cancer Institute: SEPT6
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for SEPT6
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 SEPT6
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 SEPT6 from PDB

Differential gene expression and gene-gene network for SEPT6
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 SEPT6 and the right PPI network was created from samples without mutations in the LBS of SEPT6. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for SEPT6
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for SEPT6
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of SEPT6 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of SEPT6
Multiple alignments for Q14141 in multiple species
LBSAA sequence# speciesSpecies
A186PIIAKADAISK1Homo sapiens
A186PVIAKADTISK1Drosophila melanogaster
A186PVIAKSDAISK1Mus musculus
A186PIIAKSDAISK1Bos taurus
A188IAKSDAISKSE2Mus musculus, Bos taurus
A188IAKADAISKSE1Homo sapiens
A188IAKADTISKVE1Drosophila melanogaster
D187IIAKADAISKS1Homo sapiens
D187VIAKADTISKV1Drosophila melanogaster
D187VIAKSDAISKS1Mus musculus
D187IIAKSDAISKS1Bos taurus
E193AISKSELTKFK2Homo sapiens, Bos taurus
E193TISKVELQRFK1Drosophila melanogaster
E193AISKSELAKFK1Mus musculus
G52CVGETGLGKST3Homo sapiens, Mus musculus, Bos taurus
G52CIGETGLGKST1Drosophila melanogaster
G54GETGLGKSTLM4Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus
K185IPIIAKADAIS1Homo sapiens
K185IPVIAKADTIS1Drosophila melanogaster
K185IPVIAKSDAIS1Mus musculus
K185IPIIAKSDAIS1Bos taurus
K55ETGLGKSTLMD4Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus
S56TGLGKSTLMDT4Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus
T51LCVGETGLGKS3Homo sapiens, Mus musculus, Bos taurus
T51MCIGETGLGKS1Drosophila melanogaster
T57GLGKSTLMDTL4Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus

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