SEPTIN14

protein-coding

septin 14, the group of Septins

Gene summary

SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions (Peterson et al., 2007 [PubMed 17922164]).[supplied by OMIM, Jul 2008]

Previous symbols:

SEPT14

MANE transcript

NM_207366.3

Inheritance

—

ClinVar variants

U:68B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.59

Max pathogenic AF

—

Genomic locus

chr7:55,793,540-55,862,755

External References & Databases

Ensembl (ENSG00000154997)

Transcript & Mutation Effects

hg38 • Region Span ~69.2 kb

Loading mutation effect viewer...

GenCC 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 SEPTIN14 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 70

not providedTotal: 6

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_207366.3. 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 clinvar		1 clinvar	3
missense			66 clinvar	7 clinvar	2 clinvar	75
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	68	7	3	78

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_207366.3	RefSeq	NP_997249.2	9	MANE Select
ENST00000388975.4	Ensembl	ENSP00000373627.3	9	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cytoskeleton-dependent cytokinesis

Molecular Function

GTPase activity
protein binding
GTP binding
protein-containing complex scaffold activity

Cellular Component

septin ring
microtubule cytoskeleton
septin complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000388975
Coding exons: 9
Length: 69246
Individuals with no LoFs: 125526
Homozygous LoFs: 0
Heterozygous LoFs: 62
Defined: 125588
p: 0.000247

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.318	198	211	0.938	0.0000106	2861
Missense (PolyPhen)		62	67.603	0.91712		1031
Synonymous	0.990	62	72.7	0.852	0.00000387	730
Loss of Function	1.62	11	18.5	0.594	9.50e-7	249

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00027	0.00025	rare
Latino/Admixed American	0.0012	0.00087	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00030	0.00027	rare
Finnish	0.000094	0.000092	rare
European (Non-Finnish)	0.00016	0.00015	rare
South Asian	0.00015	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). {ECO:0000250, ECO:0000305}.;

Recessive Scores

pRec: 0.0904

Intolerance Scores

RVIS EVS: 0.84
RVIS percentile EVS: 88.36

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.240

Gene Damage Prediction

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