SPATA31A3

SPATA31 subfamily A member 3

Basic information

Region (hg38): 9:66986304-66992550

Previous symbols: [ "FAM75A3" ]

Links

ENSG00000275969 ∙ NCBI:727830 ∙ ∙ HGNC:32003 ∙ Uniprot:Q5VYP0 ∙ 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 SPATA31A3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPATA31A3 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			129	13		142
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	129	14	0

Variants in SPATA31A3

This is a list of pathogenic ClinVar variants found in the SPATA31A3 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-66986462-C-T		not specified	Uncertain significance (Apr 07, 2022)
9-66986539-G-T		not specified	Uncertain significance (Oct 26, 2022)
9-66986615-G-A		not specified	Uncertain significance (Jan 10, 2023)
9-66986636-G-T		not specified	Uncertain significance (Aug 17, 2022)
9-66986640-T-G		not specified	Uncertain significance (Mar 08, 2025)
9-66986645-T-C		not specified	Likely benign (May 25, 2022)
9-66986673-G-C		not specified	Uncertain significance (Oct 19, 2024)
9-66986755-C-G		not specified	Uncertain significance (Feb 28, 2024)
9-66986758-G-A		not specified	Uncertain significance (Sep 09, 2021)
9-66986774-G-C		not specified	Uncertain significance (Feb 06, 2023)
9-66986776-G-T		not specified	Uncertain significance (Jul 06, 2021)
9-66986787-C-A		not specified	Uncertain significance (Mar 01, 2023)
9-66986793-G-C		not specified	Uncertain significance (Mar 22, 2023)
9-66986801-T-C		not specified	Uncertain significance (Mar 04, 2024)
9-66986821-G-A		not specified	Uncertain significance (Feb 15, 2023)
9-66986853-T-A		not specified	Uncertain significance (Jan 22, 2024)
9-66986866-G-A		not specified	Uncertain significance (May 22, 2023)
9-66986878-T-C		not specified	Uncertain significance (Aug 22, 2023)
9-66986938-G-T		not specified	Uncertain significance (Jan 10, 2022)
9-66986953-G-T		not specified	Uncertain significance (Feb 22, 2025)
9-66987007-C-A		not specified	Uncertain significance (Oct 26, 2021)
9-66987025-G-A		not specified	Uncertain significance (Sep 22, 2023)
9-66987046-A-T		not specified	Uncertain significance (Aug 17, 2022)
9-66987071-G-C		not specified	Uncertain significance (Feb 06, 2025)
9-66987109-G-T		not specified	Uncertain significance (Feb 16, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in spermatogenesis. {ECO:0000250}.

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Spata31

Gene ontology

• Biological process: spermatogenesis;cell differentiation
• Cellular component: integral component of membrane