SEPTIN7
Basic information
Region (hg38): 7:35800932-35907110
Previous symbols: [ "CDC10", "SEPT7" ]
Links
Transcripts
Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 21.
| Transcript ID | Protein ID | Coding exons | MANE Select | MANE Plus Clinical |
|---|---|---|---|---|
NM_001788.6 | NP_001779.3 | 14 | yes | - |
ENST00000350320.11 | ENSP00000344868.8 | 14 | yes | - |
NM_001011553.4 | NP_001011553.2 | 14 | - | - |
NM_001242956.1 | NP_001229885.1 | 12 | - | - |
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (35 variants)
- not_provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SEPTIN7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001788.6. Only rare variants are included in the table.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 36 | 36 | ||||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 5 | 5 | ||||
| Total | 0 | 0 | 42 | 0 | 1 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| SEPTIN7 | protein_coding | protein_coding | ENST00000399034 | 14 | 104376 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.74 | 94 | 204 | 0.460 | 0.00000990 | 2907 |
| Missense in Polyphen | 19 | 60.104 | 0.31612 | 869 | ||
| Synonymous | 1.51 | 49 | 64.5 | 0.760 | 0.00000302 | 706 |
| Loss of Function | 4.46 | 1 | 25.2 | 0.0397 | 0.00000121 | 352 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Required for normal progress through mitosis. Involved in cytokinesis. Required for normal association of CENPE with the kinetochore. Plays a role in ciliogenesis and collective cell movements. Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830). {ECO:0000269|PubMed:17803907, ECO:0000269|PubMed:18460473, ECO:0000305|PubMed:25588830}.;
- Pathway
- Signal Transduction;MAPK6/MAPK4 signaling;MAPK family signaling cascades
(Consensus)
Recessive Scores
- pRec
- 0.261
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.839
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Low |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Medium | Medium |
Gene ontology
- Biological process
- spermatogenesis;regulation of embryonic cell shape;cell differentiation;protein heterooligomerization;cilium assembly;cytoskeleton-dependent cytokinesis;positive regulation of non-motile cilium assembly
- Cellular component
- condensed chromosome kinetochore;stress fiber;nucleus;spindle;cytosol;axoneme;septin ring;microtubule cytoskeleton;apical plasma membrane;midbody;septin complex;cleavage furrow;extracellular exosome;sperm annulus;non-motile cilium
- Molecular function
- GTPase activity;structural molecule activity;protein binding;GTP binding;protein-containing complex scaffold activity;identical protein binding;cadherin binding