SEPTIN14

septin 14, the group of Septins

Basic information

Region (hg38): 7:55793540-55862755

Previous symbols: [ "SEPT14" ]

Links

ENSG00000154997 ∙ NCBI:346288 ∙ OMIM:612140 ∙ HGNC:33280 ∙ Uniprot:Q6ZU15 ∙ 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 SEPTIN14 gene.

• not_specified (65 variants)
• not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SEPTIN14 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000207366.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			62	5	3	70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	62	5	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SEPTIN14	protein_coding	protein_coding	ENST00000388975	9	69246

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000687	0.909	125526	0	62	125588	0.000247

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.318	198	211	0.938	0.0000106	2861
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00143	0.00140
Ashkenazi Jewish	0.00	0.00
East Asian	0.000297	0.000272
Finnish	0.0000935	0.0000924
European (Non-Finnish)	0.000158	0.000150
Middle Eastern	0.000297	0.000272
South Asian	0.000147	0.000131
Other	0.00	0.00

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.229
• hipred: N
• hipred_score: 0.171

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.240

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sept14

Gene ontology

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