OSBPL8
Basic information
Region (hg38): 12:76351797-76559809
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (67 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the OSBPL8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020841.5. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 64 | 67 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 64 | 3 | 0 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
OSBPL8 | protein_coding | protein_coding | ENST00000261183 | 23 | 208013 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0105 | 0.989 | 125704 | 0 | 41 | 125745 | 0.000163 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 3.00 | 278 | 459 | 0.606 | 0.0000234 | 5845 |
Missense in Polyphen | 75 | 185.12 | 0.40514 | 2331 | ||
Synonymous | 0.400 | 144 | 150 | 0.959 | 0.00000743 | 1591 |
Loss of Function | 5.04 | 15 | 55.5 | 0.270 | 0.00000295 | 686 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000238 | 0.000238 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000111 | 0.000109 |
Finnish | 0.000141 | 0.000139 |
European (Non-Finnish) | 0.0000979 | 0.0000967 |
Middle Eastern | 0.000111 | 0.000109 |
South Asian | 0.000606 | 0.000588 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner (PubMed:26206935). Binds oxysterol, 25- hydroxycholesterol and cholesterol (PubMed:17428193, PubMed:17991739, PubMed:21698267). {ECO:0000269|PubMed:17428193, ECO:0000269|PubMed:17991739, ECO:0000269|PubMed:21698267, ECO:0000269|PubMed:26206935}.;
- Pathway
- Metabolism of lipids;Metabolism;Acyl chain remodelling of PS;Glycerophospholipid biosynthesis;Phospholipid metabolism
(Consensus)
Recessive Scores
- pRec
- 0.111
Intolerance Scores
- loftool
- 0.560
- rvis_EVS
- -0.51
- rvis_percentile_EVS
- 21.56
Haploinsufficiency Scores
- pHI
- 0.773
- hipred
- Y
- hipred_score
- 0.639
- ghis
- 0.605
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.860
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Osbpl8
- Phenotype
- homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- negative regulation of sequestering of triglyceride;phospholipid transport;sterol transport;negative regulation of cell migration;activation of protein kinase B activity;phosphatidylserine acyl-chain remodeling;fat cell differentiation;positive regulation of glucose import;positive regulation of insulin receptor signaling pathway;positive regulation of protein kinase B signaling;protein localization to nuclear pore
- Cellular component
- endoplasmic reticulum membrane;cytosol;membrane;integral component of membrane;nuclear membrane;intracellular membrane-bounded organelle
- Molecular function
- phosphatidylserine binding;phospholipid transporter activity;lipid binding;sterol transporter activity;cholesterol binding;sterol binding;phosphatidylinositol-4-phosphate binding