POMZP3
Basic information
Region (hg38): 7:76609986-76627279
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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.
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 | 0 | |||||
| missense | 10 | 10 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 10 | 0 | 0 |
Variants in POMZP3
This is a list of pathogenic ClinVar variants found in the POMZP3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-76611489-C-G | not specified | Uncertain significance (Jan 03, 2022) | ||
| 7-76611492-G-T | not specified | Uncertain significance (Jan 24, 2024) | ||
| 7-76611513-C-A | not specified | Uncertain significance (Mar 11, 2024) | ||
| 7-76611562-A-T | not specified | Uncertain significance (Jun 05, 2023) | ||
| 7-76611743-G-C | not specified | Uncertain significance (Mar 04, 2024) | ||
| 7-76611810-A-G | not specified | Uncertain significance (Apr 15, 2024) | ||
| 7-76618196-T-A | not specified | Uncertain significance (Oct 20, 2023) | ||
| 7-76618283-A-G | not specified | Uncertain significance (Dec 18, 2023) | ||
| 7-76625546-A-C | not specified | Uncertain significance (Dec 19, 2023) | ||
| 7-76625591-T-C | not specified | Uncertain significance (Jun 06, 2023) | ||
| 7-76625627-G-A | not specified | Uncertain significance (May 30, 2024) | ||
| 7-76626043-G-C | not specified | Uncertain significance (Nov 17, 2022) |
GnomAD
Source:
| 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:
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
- Phenotype
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