SEPTIN8

septin 8, the group of Septins

Basic information

Region (hg38): 5:132750818-132807241

Previous symbols: [ "SEPT8" ]

Links

ENSG00000164402 ∙ NCBI:23176 ∙ OMIM:608418 ∙ HGNC:16511 ∙ Uniprot:Q92599 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SEPTIN8 gene.

• Inborn genetic diseases (17 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SEPTIN8 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			1			1
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			7	1		8
Total	0	0	17	1	0

Variants in SEPTIN8

This is a list of pathogenic ClinVar variants found in the SEPTIN8 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-132750891-A-G		not specified	Uncertain significance (Sep 16, 2021)
5-132750928-G-A		not specified	Uncertain significance (Oct 29, 2021)
5-132750963-T-C		not specified	Uncertain significance (Apr 27, 2023)
5-132750975-C-T		not specified	Uncertain significance (Feb 27, 2024)
5-132750976-G-A			Likely benign (Apr 01, 2022)
5-132750978-C-T		not specified	Uncertain significance (Jun 24, 2022)
5-132751993-C-A		not specified	Uncertain significance (Aug 22, 2023)
5-132752100-G-C		not specified	Uncertain significance (Oct 06, 2021)
5-132752107-A-C		not specified	Uncertain significance (Feb 15, 2023)
5-132752141-A-G		not specified	Uncertain significance (Jun 26, 2023)
5-132752158-T-C		not specified	Uncertain significance (Feb 28, 2024)
5-132752885-G-A		not specified	Uncertain significance (Dec 30, 2023)
5-132752887-T-C		not specified	Uncertain significance (Nov 18, 2022)
5-132752951-T-C		not specified	Uncertain significance (Feb 15, 2023)
5-132760803-T-A		not specified	Uncertain significance (Dec 06, 2022)
5-132760877-G-T		not specified	Uncertain significance (Aug 17, 2022)
5-132760922-C-T		not specified	Uncertain significance (Jun 02, 2023)
5-132760971-G-C		not specified	Uncertain significance (Jun 21, 2022)
5-132761480-C-T		not specified	Uncertain significance (Oct 03, 2022)
5-132761516-G-A		not specified	Uncertain significance (Jan 04, 2024)
5-132761548-T-G		not specified	Uncertain significance (Jan 24, 2024)
5-132761555-G-A		not specified	Uncertain significance (Dec 19, 2023)
5-132761600-C-T		not specified	Uncertain significance (Mar 13, 2023)
5-132761836-C-G		not specified	Uncertain significance (Dec 02, 2022)
5-132761878-C-T		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SEPTIN8	protein_coding	protein_coding	ENST00000378719	10	56425

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0842	0.915	124992	0	19	125011	0.0000760

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.57	218	294	0.742	0.0000183	3214
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.0000993	0.0000993
East Asian	0.00	0.00
Finnish	0.0000473	0.0000463
European (Non-Finnish)	0.000135	0.000132
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• 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}.
• Pathway: Bacterial invasion of epithelial cells - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.121

Intolerance Scores

• loftool: 0.0730
• rvis_EVS: -0.69
• rvis_percentile_EVS: 15.2

Haploinsufficiency Scores

• pHI: 0.936
• hipred: Y
• hipred_score: 0.696
• ghis: 0.539

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.588

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Sept8
• Phenotype: growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hematopoietic system phenotype

Gene ontology

• Biological process: regulation of SNARE complex assembly;cytoskeleton-dependent cytokinesis
• Cellular component: septin ring;microtubule cytoskeleton;septin complex;presynapse
• Molecular function: GTPase activity;protein binding;GTP binding;protein-containing complex scaffold activity