SPATA31D4

SPATA31 subfamily D member 4

Basic information

Region (hg38): 9:81928428-81934998

Previous symbols: [ "FAM75D4" ]

Links

ENSG00000189357 ∙ NCBI:389761 ∙ ∙ HGNC:38601 ∙ Uniprot:Q6ZUB0 ∙ 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 SPATA31D4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPATA31D4 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			32	5		37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	6	0

Variants in SPATA31D4

This is a list of pathogenic ClinVar variants found in the SPATA31D4 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-81930129-G-A		not specified	Uncertain significance (Oct 19, 2024)
9-81930132-G-C		not specified	Uncertain significance (Aug 08, 2022)
9-81930140-G-A			Likely benign (Mar 01, 2023)
9-81930142-T-C		not specified	Uncertain significance (Feb 05, 2024)
9-81932203-G-A		not specified	Uncertain significance (Oct 27, 2022)
9-81932244-C-T		not specified	Uncertain significance (Feb 15, 2023)
9-81932302-A-G		not specified	Likely benign (Mar 01, 2023)
9-81932392-A-T		not specified	Uncertain significance (Jul 14, 2023)
9-81932404-G-T		not specified	Uncertain significance (Oct 07, 2024)
9-81932413-G-A		not specified	Uncertain significance (Feb 09, 2025)
9-81932414-A-C		not specified	Uncertain significance (Feb 09, 2025)
9-81932429-G-C		not specified	Uncertain significance (Oct 17, 2023)
9-81932460-G-C		not specified	Uncertain significance (Jan 22, 2024)
9-81932491-C-A		not specified	Uncertain significance (Dec 04, 2024)
9-81932496-A-G		not specified	Uncertain significance (Dec 09, 2023)
9-81932534-C-G		not specified	Likely benign (Apr 28, 2022)
9-81932546-G-T		not specified	Uncertain significance (Mar 29, 2022)
9-81932569-G-A		not specified	Likely benign (Feb 02, 2022)
9-81932587-T-A		not specified	Uncertain significance (Mar 02, 2023)
9-81932616-G-A		not specified	Uncertain significance (Jan 20, 2025)
9-81932619-C-A		not specified	Uncertain significance (Jan 03, 2025)
9-81932632-A-G		not specified	Uncertain significance (Jan 23, 2023)
9-81932649-C-T		not specified	Uncertain significance (Nov 24, 2024)
9-81932657-C-A		not specified	Uncertain significance (Aug 05, 2024)
9-81932665-T-G		not specified	Uncertain significance (May 30, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Gene ontology

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