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mutLBSgeneDB |
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| Gene summary for SEPT3 |
 Gene summary |
| Basic gene Info. | Gene symbol | SEPT3 |
| Gene name | septin 3 | |
| Synonyms | SEP3|bK250D10.3 | |
| Cytomap | UCSC genome browser: 22q13.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_019106.5, NM_145733.2,NM_145734.1, | |
| Description | neuronal-specific septin 3neuronal-specific septin-3 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 608314 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000100167 | ||
| HPRD : 10515 | ||
| Vega : OTTHUMG00000030494 | ||
| Protein | UniProt: Q9UH03 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SEPT3 | |
| BioGPS: 55964 | ||
| Pathway | NCI Pathway Interaction Database: SEPT3 | |
| KEGG: SEPT3 | ||
| REACTOME: SEPT3 | ||
| Pathway Commons: SEPT3 | ||
| Context | iHOP: SEPT3 | |
| ligand binding site mutation search in PubMed: SEPT3 | ||
| UCL Cancer Institute: SEPT3 | ||
| 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 SEPT3 |
| 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 | R280 | R280Q | COAD | 1 | R280 | L278P | KIRC | 1 | G265 | S266G | KIRC | 1 | V264 | V263L | LUAD | 1 | D210 | D210E | LUAD | 1 | H183 | T181K | LUSC | 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 SEPT3 |
| 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 | R280 | R280Q | -1.6863086 | G265 | S266G | -1.2597418 | V264 | V263L | -0.93583116 | R280 | L278P | -0.80207738 | H183 | T181K | -0.60771699 | D210 | D210E | -0.47997476 |
| (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 SEPT3 from PDB |
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| Differential gene expression and gene-gene network for SEPT3 |
| 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 SEPT3 |
| 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 SEPT3 |
| 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 SEPT3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GDP | GUANOSINE-5'-DIPHOSPHATE | 3sop | A | D210 V264 G265 R280 | GDP | GUANOSINE-5'-DIPHOSPHATE | 3sop | B | D210 V264 G265 R280 | GDP | GUANOSINE-5'-DIPHOSPHATE | 3sop | A | H183 | GDP | GUANOSINE-5'-DIPHOSPHATE | 3sop | B | H183 |
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| Conservation information for LBS of SEPT3 |
| Multiple alignments for Q9UH03 in multiple species |
| LBS | AA sequence | # species | Species | D210 | VIAKADTMTLE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D210 | VIAKSDTLTPE | 1 | Danio rerio | G265 | PFAVVGSDKEY | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | G71 | VVGQSGLGKST | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | G73 | GQSGLGKSTLV | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | H183 | ISPTGHSLRPL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H183 | ISPTGHSLRQL | 1 | Danio rerio | K208 | IPVIAKADTMT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K208 | IPVIAKSDTLT | 1 | Danio rerio | K74 | QSGLGKSTLVN | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | L72 | VGQSGLGKSTL | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | R280 | KRVLGRKTPWG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R280 | KRVLGRKTAWG | 1 | Danio rerio | S70 | MVVGQSGLGKS | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | S75 | SGLGKSTLVNT | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | T102 | EKIPKTVEIKA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T102 | EKIPKTVEIKS | 1 | Danio rerio | T211 | IAKADTMTLEE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T211 | IAKSDTLTPEE | 1 | Danio rerio | T76 | GLGKSTLVNTL | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | V264 | MPFAVVGSDKE | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus |
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