POMZP3

POM121 and ZP3 fusion

Basic information

Region (hg38): 7:76609986-76627279

Links

ENSG00000146707 ∙ NCBI:22932 ∙ OMIM:600587 ∙ HGNC:9203 ∙ Uniprot:Q6PJE2 ∙ 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 POMZP3 gene.

• not_specified (22 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POMZP3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012230.5. 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		1
missense			24			24
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	27	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POMZP3	protein_coding	protein_coding	ENST00000310842	5	17276

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000529	0.711	51852	28758	45138	125748	0.358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.461	116	103	1.13	0.00000549	1213
Missense in Polyphen		25	25.102	0.99592		315
Synonymous	-1.95	56	40.2	1.39	0.00000231	359
Loss of Function	0.861	6	8.75	0.686	4.38e-7	103

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	1.02	0.884
Ashkenazi Jewish	0.587	0.352
East Asian	0.426	0.374
Finnish	0.341	0.280
European (Non-Finnish)	0.503	0.365
Middle Eastern	0.426	0.374
South Asian	0.539	0.366
Other	0.497	0.364

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0865

Intolerance Scores

• loftool: 0.579
• rvis_EVS: 0.42
• rvis_percentile_EVS: 76.81

Haploinsufficiency Scores

• pHI: 0.181
• hipred: N
• hipred_score: 0.380
• ghis: 0.424

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0553

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pom121

Gene ontology

• Biological process: binding of sperm to zona pellucida;biological_process;egg coat formation;positive regulation of acrosome reaction
• Cellular component: cellular_component;nucleoplasm;nuclear membrane
• Molecular function: molecular_function;acrosin binding;structural constituent of egg coat