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mutLBSgeneDB |
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| Gene summary for SEPT6 |
 Gene summary |
| Basic gene Info. | Gene symbol | SEPT6 |
| Gene name | septin 6 | |
| Synonyms | SEP2|SEPT2 | |
| Cytomap | UCSC genome browser: Xq24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_015129.5, NM_145799.3,NM_145800.3,NM_145802.3, | |
| Description | septin 2septin-6 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 300683 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000125354 | ||
| HPRD : 06716 | ||
| Vega : OTTHUMG00000022280 | ||
| Protein | UniProt: Q14141 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SEPT6 | |
| BioGPS: 23157 | ||
| Pathway | NCI Pathway Interaction Database: SEPT6 | |
| KEGG: SEPT6 | ||
| REACTOME: SEPT6 | ||
| Pathway Commons: SEPT6 | ||
| Context | iHOP: SEPT6 | |
| ligand binding site mutation search in PubMed: SEPT6 | ||
| UCL Cancer Institute: SEPT6 | ||
| 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 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A188 | S190L | COAD | 1 | A188 | A188V | 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 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 |
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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 | A188 | A188V | -0.22577756 | A188 | S190L | -0.018104947 |
| (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 |
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| 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) |
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| Phenotype information for SEPT6 |
| 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 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. |
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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 SEPT6 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GDP | GUANOSINE-5'-DIPHOSPHATE | 2qag | B | A188 |
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| Conservation information for LBS of SEPT6 |
| Multiple alignments for Q14141 in multiple species |
| LBS | AA sequence | # species | Species | A186 | PIIAKADAISK | 1 | Homo sapiens | A186 | PVIAKADTISK | 1 | Drosophila melanogaster | A186 | PVIAKSDAISK | 1 | Mus musculus | A186 | PIIAKSDAISK | 1 | Bos taurus | A188 | IAKSDAISKSE | 2 | Mus musculus, Bos taurus | A188 | IAKADAISKSE | 1 | Homo sapiens | A188 | IAKADTISKVE | 1 | Drosophila melanogaster | D187 | IIAKADAISKS | 1 | Homo sapiens | D187 | VIAKADTISKV | 1 | Drosophila melanogaster | D187 | VIAKSDAISKS | 1 | Mus musculus | D187 | IIAKSDAISKS | 1 | Bos taurus | E193 | AISKSELTKFK | 2 | Homo sapiens, Bos taurus | E193 | TISKVELQRFK | 1 | Drosophila melanogaster | E193 | AISKSELAKFK | 1 | Mus musculus | G52 | CVGETGLGKST | 3 | Homo sapiens, Mus musculus, Bos taurus | G52 | CIGETGLGKST | 1 | Drosophila melanogaster | G54 | GETGLGKSTLM | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | K185 | IPIIAKADAIS | 1 | Homo sapiens | K185 | IPVIAKADTIS | 1 | Drosophila melanogaster | K185 | IPVIAKSDAIS | 1 | Mus musculus | K185 | IPIIAKSDAIS | 1 | Bos taurus | K55 | ETGLGKSTLMD | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | S56 | TGLGKSTLMDT | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | T51 | LCVGETGLGKS | 3 | Homo sapiens, Mus musculus, Bos taurus | T51 | MCIGETGLGKS | 1 | Drosophila melanogaster | T57 | GLGKSTLMDTL | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus |
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