SEPTIN7

septin 7, the group of Septins

Basic information

Region (hg38): 7:35800932-35907110

Previous symbols: [ "CDC10", "SEPT7" ]

Links

ENSG00000122545 ∙ NCBI:989 ∙ OMIM:603151 ∙ HGNC:1717 ∙ Uniprot:Q16181 ∙ 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 SEPTIN7 gene.

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.

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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	1

Variants in SEPTIN7

This is a list of pathogenic ClinVar variants found in the SEPTIN7 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-35801214-C-T		not specified	Uncertain significance (Jul 02, 2024)
7-35801229-C-G		not specified	Uncertain significance (Oct 12, 2022)
7-35801265-C-G		not specified	Uncertain significance (Sep 27, 2024)
7-35832864-G-C		not specified	Uncertain significance (Jan 08, 2024)
7-35863614-C-T		not specified	Uncertain significance (Jun 03, 2022)
7-35863624-C-G		not specified	Uncertain significance (Jan 02, 2024)
7-35863627-G-C		not specified	Uncertain significance (Jan 16, 2024)
7-35872688-T-C		not specified	Uncertain significance (Mar 16, 2024)
7-35873682-A-T		not specified	Uncertain significance (Oct 01, 2024)
7-35873685-A-G		not specified	Uncertain significance (Feb 05, 2024)
7-35879853-G-C		not specified	Uncertain significance (Aug 27, 2024)
7-35879905-C-T		not specified	Uncertain significance (Aug 30, 2022)
7-35879928-G-C		not specified	Uncertain significance (Sep 13, 2023)
7-35882535-A-G		not specified	Uncertain significance (Nov 02, 2023)
7-35883912-G-A		not specified	Uncertain significance (Jan 10, 2023)
7-35883927-A-C		not specified	Uncertain significance (Oct 29, 2021)
7-35898299-G-T		not specified	Uncertain significance (Mar 07, 2024)
7-35903083-G-A		not specified	Uncertain significance (Oct 07, 2024)
7-35903145-C-T		not specified	Uncertain significance (Oct 13, 2023)
7-35903153-C-T			Benign (Jul 26, 2018)
7-35904271-A-G		not specified	Uncertain significance (Aug 15, 2023)

GnomAD

Source: gnomAD

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
0.999	0.000756	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: dbNSFP

• 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

Haploinsufficiency Scores

• pHI: 0.737
• hipred: Y
• hipred_score: 0.738
• ghis: 0.646

Essentials

• essential_gene_CRISPR2: E
• 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

Mouse Genome Informatics

• Gene name: Sept7
• Phenotype: cellular phenotype; 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); 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)

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