SPAG8

sperm associated antigen 8

Basic information

Region (hg38): 9:35808045-35812272

Links

ENSG00000137098 ∙ NCBI:26206 ∙ OMIM:605731 ∙ HGNC:14105 ∙ Uniprot:Q99932 ∙ 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 SPAG8 gene.

• not_specified (71 variants)
• not_provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SPAG8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001039592.2. 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	2	3	6
missense			68	2	3	73
nonsense					1	1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	69	4	7

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SPAG8	protein_coding	protein_coding	ENST00000340291	8	4228

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.68e-12	0.108	122844	77	2827	125748	0.0116

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.568	253	280	0.905	0.0000145	3211
Missense in Polyphen		39	56.01	0.69631		686
Synonymous	0.128	106	108	0.984	0.00000583	1054
Loss of Function	0.617	20	23.2	0.862	0.00000126	235

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0197	0.0198
Ashkenazi Jewish	0.000497	0.000496
East Asian	0.0792	0.0788
Finnish	0.0430	0.0362
European (Non-Finnish)	0.00202	0.00201
Middle Eastern	0.0792	0.0788
South Asian	0.00183	0.00183
Other	0.00606	0.00588

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in spermatogenesis by enhancing the binding of CREM isoform tau to its coactivator FHL5 and increasing the FHL5-regulated transcriptional activation of CREM isoform tau (By similarity). Involved in the acrosome reaction and in binding of sperm to the zona pellucida (By similarity). Plays a role in regulation of the cell cycle by controlling progression through the G2/M phase, possibly by delaying the activation of CDK1 which is required for entry into mitosis (PubMed:19548270). May play a role in fertility and microtubule formation through interaction with RANBP9 (PubMed:10500252). {ECO:0000250|UniProtKB:Q3V0Q6, ECO:0000269|PubMed:10500252, ECO:0000269|PubMed:19548270}.

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.927
• rvis_EVS: 0.87
• rvis_percentile_EVS: 88.82

Haploinsufficiency Scores

• pHI: 0.118
• hipred: N
• hipred_score: 0.123
• ghis: 0.427

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.265

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Spag8

Gene ontology

• Biological process: cell cycle;spermatogenesis;single fertilization;biological_process;cell differentiation;positive regulation of transcription by RNA polymerase II
• Cellular component: acrosomal vesicle;nucleus;cytoplasm;spindle;membrane
• Molecular function: molecular_function;protein binding;microtubule binding