SEPTIN8
protein-codingseptin 8, the group of Septins
Gene summary
This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
- SEPT8
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~56.4 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to SEPTIN8 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001098811.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 2 | ||||
| missense | 75 | 75 | ||||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 79 | 0 | 0 | 79 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001092281.1 | 10 | MANE Select | |
| Ensembl | ENSP00000367991.2 | 10 | MANE Select | |
| RefSeq | NP_001092282.1 | 10 | Standard | |
| RefSeq | NP_001092283.1 | 8 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Bacterial invasion of epithelial cells - Homo sapiens (human)
Biological Process
- regulation of SNARE complex assembly
- cytoskeleton-dependent cytokinesis
Molecular Function
- GTPase activity
- protein binding
- GTP binding
- protein-containing complex scaffold activity
Cellular Component
- septin ring
- microtubule cytoskeleton
- septin complex
- presynapse
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000378719
- Coding exons
- 10
- Length
- 56425
- Individuals with no LoFs
- 124992
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 19
- Defined
- 125011
- p
- 0.0000760
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.57 | 218 | 294 | 0.742 | 0.0000183 | 3214 |
| Missense (PolyPhen) | 91 | 133.53 | 0.68152 | 1508 | ||
| Synonymous | 1.15 | 106 | 122 | 0.867 | 0.00000843 | 868 |
| Loss of Function | 3.11 | 6 | 21.6 | 0.277 | 0.00000100 | 263 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0.000099 | 0.000099 | rare |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0.000047 | 0.000046 | rare |
| European (Non-Finnish) | 0.00013 | 0.00013 | rare |
| South Asian | 0.000065 | 0.000065 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion. {ECO:0000250, ECO:0000269|PubMed:15116257, ECO:0000305}.;
Recessive Scores
- pRec
- 0.121
Intolerance Scores
- LoFtool
- 0.0730
- RVIS EVS
- -0.69
- RVIS percentile EVS
- 15.2
Essentials
- Essential (CRISPR)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.588
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |