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GeneBe

SEPTIN3

septin 3, the group of Septins

Basic information

Region (hg38): 22:41969442-41998221

Previous symbols: [ "SEP3", "SEPT3" ]

Links

ENSG00000100167NCBI:55964OMIM:608314HGNC:10750Uniprot:Q9UH03AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SEPTIN3 gene.

  • Inborn genetic diseases (4 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SEPTIN3 gene is commonly pathogenic or not.

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.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
4
clinvar
1
clinvar
5
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 4 0 1

Variants in SEPTIN3

This is a list of pathogenic ClinVar variants found in the SEPTIN3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
22-41981711-C-T Benign (Apr 02, 2018)738661
22-41981800-A-G not specified Uncertain significance (Jan 16, 2024)3160124
22-41986043-C-T not specified Uncertain significance (Nov 08, 2022)3160125
22-41986065-G-A not specified Uncertain significance (Jan 09, 2024)3160126
22-41987241-G-A not specified Uncertain significance (Jul 07, 2022)3160127
22-41987267-C-G not specified Uncertain significance (Oct 26, 2023)3160128
22-41987645-T-C not specified Uncertain significance (May 16, 2022)3160129
22-41987702-G-A not specified Uncertain significance (Jun 26, 2023)2603822
22-41989610-G-A not specified Uncertain significance (Mar 02, 2023)2466241
22-41989680-A-G not specified Uncertain significance (Sep 14, 2023)2624160
22-41992723-G-C not specified Uncertain significance (Apr 19, 2023)2519642
22-41994713-C-T not specified Uncertain significance (Jan 02, 2024)3160123

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SEPTIN3protein_codingprotein_codingENST00000396426 1121950
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.08940.9101257080401257480.000159
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.481132150.5250.00001222381
Missense in Polyphen3890.7240.418851034
Synonymous0.07968080.90.9890.00000486656
Loss of Function3.14621.80.2750.00000125239

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001200.000120
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.001300.00129
European (Non-Finnish)0.00005300.0000527
Middle Eastern0.00005440.0000544
South Asian0.00006540.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). {ECO:0000250, ECO:0000305}.;
Pathway
Bacterial invasion of epithelial cells - Homo sapiens (human) (Consensus)

Recessive Scores

pRec
0.111

Intolerance Scores

loftool
0.608
rvis_EVS
-0.3
rvis_percentile_EVS
32.62

Haploinsufficiency Scores

pHI
0.292
hipred
Y
hipred_score
0.802
ghis
0.659

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.381

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Sept3
Phenotype
mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype;

Gene ontology

Biological process
cytoskeleton-dependent cytokinesis
Cellular component
septin ring;microtubule cytoskeleton;cell junction;septin complex;neuron projection;presynaptic cytoskeleton
Molecular function
molecular_function;GTPase activity;protein binding;GTP binding;protein-containing complex scaffold activity;identical protein binding