PROCR
Basic information
Region (hg38): 20:35172072-35216240
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 PROCR 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 | 9 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 7 | 2 | 1 |
Variants in PROCR
This is a list of pathogenic ClinVar variants found in the PROCR region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
20-35172180-T-C | not specified | Uncertain significance (Jun 05, 2024) | ||
20-35174718-T-G | not specified | Uncertain significance (Aug 21, 2024) | ||
20-35174795-C-T | not specified | Uncertain significance (Jul 26, 2022) | ||
20-35174869-G-A | not specified | Uncertain significance (Sep 30, 2024) | ||
20-35174893-T-C | Benign (Jul 06, 2018) | |||
20-35174914-G-T | not specified | Uncertain significance (Jul 12, 2022) | ||
20-35174936-A-G | not specified | Likely benign (Mar 18, 2024) | ||
20-35174942-G-C | not specified | Uncertain significance (Dec 21, 2022) | ||
20-35176228-A-T | not specified | Uncertain significance (Jan 10, 2023) | ||
20-35176238-C-T | Benign/Likely benign (Feb 01, 2023) | |||
20-35176320-G-A | not specified | Likely benign (Jul 14, 2024) | ||
20-35176362-C-G | not specified | Uncertain significance (Nov 30, 2021) | ||
20-35176381-G-A | not specified | Likely benign (Oct 06, 2022) | ||
20-35176399-C-A | not specified | Uncertain significance (Apr 05, 2023) | ||
20-35176725-C-T | not specified | Uncertain significance (Oct 29, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PROCR | protein_coding | protein_coding | ENST00000216968 | 4 | 5290 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00563 | 0.908 | 125698 | 0 | 50 | 125748 | 0.000199 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.537 | 126 | 144 | 0.874 | 0.00000983 | 1508 |
Missense in Polyphen | 43 | 46.226 | 0.93022 | 477 | ||
Synonymous | 0.606 | 62 | 68.4 | 0.907 | 0.00000476 | 516 |
Loss of Function | 1.47 | 5 | 10.0 | 0.500 | 4.37e-7 | 110 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000427 | 0.000427 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00110 | 0.00109 |
Finnish | 0.0000924 | 0.0000924 |
European (Non-Finnish) | 0.0000704 | 0.0000703 |
Middle Eastern | 0.00110 | 0.00109 |
South Asian | 0.000360 | 0.000359 |
Other | 0.000167 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Binds activated protein C. Enhances protein C activation by the thrombin-thrombomodulin complex; plays a role in the protein C pathway controlling blood coagulation.;
- Pathway
- Complement and coagulation cascades - Homo sapiens (human);Cell surface interactions at the vascular wall;Hemostasis;transcriptional activation of dbpb from mrna;Common Pathway of Fibrin Clot Formation;Formation of Fibrin Clot (Clotting Cascade)
(Consensus)
Recessive Scores
- pRec
- 0.176
Intolerance Scores
- loftool
- 0.394
- rvis_EVS
- -0.05
- rvis_percentile_EVS
- 50.01
Haploinsufficiency Scores
- pHI
- 0.0525
- hipred
- N
- hipred_score
- 0.222
- ghis
- 0.482
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.731
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Procr
- Phenotype
- growth/size/body region phenotype; homeostasis/metabolism phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; embryo phenotype; immune system phenotype;
Gene ontology
- Biological process
- blood coagulation;negative regulation of coagulation
- Cellular component
- extracellular region;centrosome;plasma membrane;integral component of plasma membrane;focal adhesion;cell surface;perinuclear region of cytoplasm;extracellular exosome
- Molecular function
- protein binding;signaling receptor activity