PRELP
Basic information
Region (hg38): 1:203475805-203491352
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 PRELP 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 | 3 | |||||
missense | 21 | 22 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 21 | 2 | 2 |
Variants in PRELP
This is a list of pathogenic ClinVar variants found in the PRELP region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-203483218-C-T | not specified | Uncertain significance (Jul 08, 2022) | ||
1-203483227-G-A | not specified | Uncertain significance (Jul 30, 2023) | ||
1-203483269-G-A | not specified | Likely benign (Dec 22, 2023) | ||
1-203483289-A-C | not specified | Uncertain significance (Sep 17, 2021) | ||
1-203483293-A-G | not specified | Uncertain significance (Jun 11, 2021) | ||
1-203483311-A-C | not specified | Uncertain significance (Sep 17, 2021) | ||
1-203483405-C-T | not specified | Uncertain significance (Jun 07, 2023) | ||
1-203483426-C-G | not specified | Uncertain significance (May 03, 2023) | ||
1-203483458-C-T | not specified | Uncertain significance (Mar 21, 2022) | ||
1-203483492-G-T | not specified | Uncertain significance (Mar 17, 2023) | ||
1-203483636-G-A | not specified | Uncertain significance (Dec 11, 2023) | ||
1-203483687-C-A | not specified | Uncertain significance (Oct 13, 2023) | ||
1-203483696-G-A | not specified | Uncertain significance (Aug 02, 2021) | ||
1-203483772-C-A | not specified | Uncertain significance (Dec 19, 2022) | ||
1-203483796-C-A | not specified | Uncertain significance (Dec 28, 2023) | ||
1-203483815-G-A | not specified | Uncertain significance (Dec 07, 2022) | ||
1-203483868-G-A | Likely benign (May 01, 2022) | |||
1-203483895-G-A | Benign (Jan 30, 2018) | |||
1-203483899-A-G | not specified | Uncertain significance (Mar 02, 2023) | ||
1-203483962-G-A | PRELP-related osteosclerosis | Uncertain significance (Mar 19, 2018) | ||
1-203483995-A-G | not specified | Uncertain significance (May 21, 2024) | ||
1-203483998-C-T | not specified | Uncertain significance (Jan 27, 2022) | ||
1-203484040-A-G | not specified | Uncertain significance (Dec 06, 2023) | ||
1-203486710-C-A | Benign (Jan 30, 2018) | |||
1-203486722-G-C | not specified | Uncertain significance (Jul 12, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PRELP | protein_coding | protein_coding | ENST00000343110 | 2 | 15525 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0000471 | 0.670 | 125721 | 0 | 27 | 125748 | 0.000107 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.741 | 193 | 224 | 0.861 | 0.0000139 | 2498 |
Missense in Polyphen | 64 | 77.169 | 0.82935 | 904 | ||
Synonymous | -1.22 | 119 | 103 | 1.15 | 0.00000677 | 813 |
Loss of Function | 0.899 | 8 | 11.3 | 0.711 | 8.51e-7 | 108 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000338 | 0.000333 |
Ashkenazi Jewish | 0.000109 | 0.0000992 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.000125 | 0.000114 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.0000677 | 0.0000653 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May anchor basement membranes to the underlying connective tissue. {ECO:0000250}.;
- Pathway
- Metabolism of carbohydrates;Keratan sulfate biosynthesis;Keratan sulfate/keratin metabolism;Glycosaminoglycan metabolism;Metabolism
(Consensus)
Recessive Scores
- pRec
- 0.129
Intolerance Scores
- loftool
- 0.465
- rvis_EVS
- 0.35
- rvis_percentile_EVS
- 74.58
Haploinsufficiency Scores
- pHI
- 0.724
- hipred
- N
- hipred_score
- 0.335
- ghis
- 0.476
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.826
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Prelp
- Phenotype
- homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- skeletal system development;cell aging;keratan sulfate biosynthetic process;keratan sulfate catabolic process
- Cellular component
- extracellular region;Golgi lumen;extracellular matrix;lysosomal lumen;collagen-containing extracellular matrix;extracellular exosome;extracellular vesicle
- Molecular function
- extracellular matrix structural constituent;heparin binding;extracellular matrix structural constituent conferring compression resistance