PCSK4
Basic information
Region (hg38): 19:1481427-1490752
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 PCSK4 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 | |||||
missense | 59 | 66 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 59 | 7 | 1 |
Variants in PCSK4
This is a list of pathogenic ClinVar variants found in the PCSK4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-1481824-C-A | not specified | Uncertain significance (Jun 29, 2022) | ||
19-1481842-T-C | not specified | Uncertain significance (Feb 15, 2023) | ||
19-1481871-A-G | not specified | Uncertain significance (Jun 21, 2021) | ||
19-1481904-G-A | not specified | Likely benign (Jan 29, 2024) | ||
19-1481916-C-T | not specified | Uncertain significance (Jan 23, 2023) | ||
19-1481947-G-A | not specified | Uncertain significance (Apr 18, 2023) | ||
19-1481953-G-A | not specified | Uncertain significance (Oct 27, 2021) | ||
19-1481959-C-A | not specified | Uncertain significance (Jun 11, 2021) | ||
19-1482042-C-T | not specified | Uncertain significance (Jun 02, 2023) | ||
19-1482049-G-A | not specified | Uncertain significance (Sep 14, 2022) | ||
19-1482081-C-A | Benign (May 01, 2022) | |||
19-1482141-T-C | not specified | Likely benign (Nov 10, 2022) | ||
19-1482151-G-A | not specified | Uncertain significance (Feb 02, 2024) | ||
19-1482153-G-T | not specified | Uncertain significance (Apr 20, 2024) | ||
19-1482163-A-G | not specified | Uncertain significance (Aug 17, 2021) | ||
19-1482189-T-C | not specified | Uncertain significance (May 04, 2022) | ||
19-1482195-G-A | not specified | Uncertain significance (May 17, 2023) | ||
19-1482397-G-A | Likely benign (Mar 01, 2023) | |||
19-1482434-C-T | not specified | Uncertain significance (Nov 30, 2021) | ||
19-1482436-G-A | not specified | Uncertain significance (Sep 16, 2021) | ||
19-1482908-A-T | not specified | Uncertain significance (Feb 12, 2024) | ||
19-1482956-C-T | not specified | Uncertain significance (May 30, 2024) | ||
19-1482987-G-C | not specified | Uncertain significance (Jan 05, 2022) | ||
19-1483313-C-G | not specified | Uncertain significance (Dec 11, 2023) | ||
19-1483333-T-G | not specified | Uncertain significance (Jan 31, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PCSK4 | protein_coding | protein_coding | ENST00000300954 | 15 | 9325 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.34e-12 | 0.759 | 125638 | 1 | 89 | 125728 | 0.000358 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.0360 | 497 | 495 | 1.00 | 0.0000348 | 4728 |
Missense in Polyphen | 195 | 201.61 | 0.96722 | 1936 | ||
Synonymous | -1.76 | 267 | 233 | 1.15 | 0.0000186 | 1568 |
Loss of Function | 1.73 | 24 | 35.0 | 0.685 | 0.00000188 | 335 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000937 | 0.000884 |
Ashkenazi Jewish | 0.00289 | 0.00278 |
East Asian | 0.000112 | 0.000109 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000307 | 0.000281 |
Middle Eastern | 0.000112 | 0.000109 |
South Asian | 0.000297 | 0.000294 |
Other | 0.000347 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Proprotein convertase involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues (By similarity). In males, important for ADAM2 processing as well as other acrosomal proteins with roles in fertilization and critical for normal fertilization events such as sperm capacitation, acrosome reaction and binding of sperm to zona pellucida (By similarity). Plays also a role in female fertility, involved in the regulation of trophoblast migration and placental development, may be through the proteolytical processing and activation of proteins such as IGF2 (PubMed:16040806). May also participate in folliculogenesis in the ovaries (By similarity). {ECO:0000250|UniProtKB:P29121, ECO:0000269|PubMed:16040806}.;
Recessive Scores
- pRec
- 0.129
Intolerance Scores
- loftool
- 0.235
- rvis_EVS
- 0.61
- rvis_percentile_EVS
- 82.93
Haploinsufficiency Scores
- pHI
- 0.0995
- hipred
- N
- hipred_score
- 0.170
- ghis
- 0.449
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.368
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pcsk4
- Phenotype
- homeostasis/metabolism phenotype; reproductive system phenotype;
Gene ontology
- Biological process
- binding of sperm to zona pellucida;acrosome reaction;fertilization;protein processing;peptide hormone processing;reproductive process;sperm capacitation
- Cellular component
- acrosomal vesicle;acrosomal membrane;trans-Golgi network;membrane;integral component of membrane;integral component of Golgi membrane
- Molecular function
- serine-type endopeptidase activity;protein binding