OSBPL11

oxysterol binding protein like 11, the group of Oxysterol binding proteins|Pleckstrin homology domain containing

Basic information

Region (hg38): 3:125528858-125595497

Links

ENSG00000144909 ∙ NCBI:114885 ∙ OMIM:606739 ∙ HGNC:16397 ∙ Uniprot:Q9BXB4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OSBPL11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OSBPL11 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			35			35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	0	0

Variants in OSBPL11

This is a list of pathogenic ClinVar variants found in the OSBPL11 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-125531973-T-G		not specified	Uncertain significance (Sep 01, 2021)
3-125532012-C-T		not specified	Uncertain significance (Apr 22, 2022)
3-125538452-T-A		not specified	Uncertain significance (Feb 23, 2023)
3-125538499-G-A		not specified	Uncertain significance (Jun 05, 2024)
3-125538554-A-T		not specified	Uncertain significance (Mar 16, 2022)
3-125547571-T-C		not specified	Uncertain significance (Aug 30, 2022)
3-125547590-T-C		not specified	Uncertain significance (Sep 06, 2022)
3-125552240-T-C		not specified	Uncertain significance (Aug 10, 2023)
3-125552348-C-T		not specified	Uncertain significance (Sep 20, 2023)
3-125552367-C-G		not specified	Uncertain significance (Aug 28, 2021)
3-125552372-G-A		not specified	Uncertain significance (Oct 25, 2022)
3-125552398-C-G		not specified	Uncertain significance (Dec 27, 2022)
3-125552436-C-T		not specified	Uncertain significance (Oct 31, 2023)
3-125552505-T-C		not specified	Uncertain significance (Aug 02, 2021)
3-125552553-A-T		not specified	Uncertain significance (Apr 17, 2023)
3-125552595-C-A		not specified	Uncertain significance (Feb 05, 2024)
3-125552597-A-G		not specified	Uncertain significance (Mar 20, 2024)
3-125552667-T-C		not specified	Uncertain significance (Dec 03, 2021)
3-125560507-T-C		not specified	Uncertain significance (Dec 19, 2022)
3-125563766-T-G		not specified	Uncertain significance (Jun 21, 2023)
3-125563799-G-A		not specified	Uncertain significance (Sep 14, 2023)
3-125563802-T-A		not specified	Uncertain significance (Dec 27, 2023)
3-125563820-G-C		not specified	Uncertain significance (Feb 03, 2022)
3-125567406-A-C		not specified	Uncertain significance (Jun 11, 2021)
3-125567447-A-C		not specified	Uncertain significance (Mar 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OSBPL11	protein_coding	protein_coding	ENST00000296220	13	66233

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.834	0.166	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.29	272	401	0.678	0.0000198	4900
Missense in Polyphen		76	161.77	0.46981		1946
Synonymous	0.804	130	142	0.914	0.00000712	1414
Loss of Function	4.55	7	36.7	0.191	0.00000181	468

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000647	0.0000615
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000796	0.0000791
Middle Eastern	0.000109	0.000109
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in regulating ADIPOQ and FABP4 levels in differentiating adipocytes and is also involved in regulation of adipocyte triglyceride storage (PubMed:23028956). Weakly binds 25- hydroxycholesterol (PubMed:17428193). {ECO:0000269|PubMed:17428193, ECO:0000269|PubMed:23028956}.

Recessive Scores

• pRec: 0.0970

Intolerance Scores

• loftool: 0.484
• rvis_EVS: -0.8
• rvis_percentile_EVS: 12.24

Haploinsufficiency Scores

• pHI: 0.339
• hipred: Y
• hipred_score: 0.605
• ghis: 0.648

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.908

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Osbpl11

Gene ontology

• Biological process: positive regulation of sequestering of triglyceride;sterol transport;fat cell differentiation
• Cellular component: nucleoplasm;Golgi apparatus;cytosol;membrane;late endosome membrane;intracellular membrane-bounded organelle
• Molecular function: lipid binding;sterol transporter activity;sterol binding