SPATA31A7

SPATA31 subfamily A member 7

Basic information

Region (hg38): 9:61190036-61196280

Previous symbols: [ "FAM75A7", "SPATA31A4", "FAM75A4" ]

Links

ENSG00000276040 ∙ NCBI:26165 ∙ OMIM:616584 ∙ HGNC:32007 ∙ Uniprot:Q8IWB4 ∙ 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 SPATA31A7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPATA31A7 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				3		3
missense			73	8		81
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	73	11	0

Variants in SPATA31A7

This is a list of pathogenic ClinVar variants found in the SPATA31A7 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-61191465-C-T		not specified	Uncertain significance (Dec 19, 2023)
9-61191466-G-A		not specified	Uncertain significance (Feb 13, 2024)
9-61191484-G-A		not specified	Uncertain significance (Nov 10, 2024)
9-61192079-C-G		not specified	Uncertain significance (Dec 04, 2024)
9-61192085-G-A		not specified	Uncertain significance (May 31, 2023)
9-61192099-G-A		not specified	Uncertain significance (Jan 27, 2025)
9-61192100-G-C		not specified	Uncertain significance (Sep 27, 2024)
9-61192110-G-T		not specified	Uncertain significance (Nov 22, 2023)
9-61192117-G-A		not specified	Uncertain significance (Apr 04, 2023)
9-61192123-C-T		not specified	Likely benign (Dec 24, 2024)
9-61192138-A-G		not specified	Uncertain significance (Jan 17, 2024)
9-61192717-C-T		not specified	Likely benign (Mar 23, 2022)
9-61192723-C-T		not specified	Uncertain significance (Mar 01, 2023)
9-61192753-G-A		not specified	Uncertain significance (Oct 27, 2022)
9-61192779-C-A		not specified	Uncertain significance (Sep 18, 2024)
9-61192834-G-T		not specified	Uncertain significance (Oct 27, 2021)
9-61192870-G-A		not specified	Uncertain significance (Jan 26, 2023)
9-61192922-C-T		not specified	Uncertain significance (Aug 17, 2021)
9-61192933-T-A		not specified	Uncertain significance (Nov 10, 2024)
9-61192945-G-T		not specified	Uncertain significance (May 17, 2023)
9-61192960-G-A		not specified	Uncertain significance (Nov 12, 2021)
9-61192975-G-A		not specified	Uncertain significance (Aug 23, 2021)
9-61192982-A-G		not specified	Uncertain significance (Aug 02, 2022)
9-61192985-A-G		not specified	Uncertain significance (Dec 16, 2021)
9-61193019-G-A			Likely benign (Jan 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.139

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Spata31

Gene ontology

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