OSBPL7

oxysterol binding protein like 7, the group of Pleckstrin homology domain containing|Oxysterol binding proteins

Basic information

Region (hg38): 17:47807372-47821803

Links

ENSG00000006025 ∙ NCBI:114881 ∙ OMIM:606735 ∙ HGNC:16387 ∙ Uniprot:Q9BZF2 ∙ 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 OSBPL7 gene.

• not_specified (101 variants)
• not_provided (2 variants)
• Encephalopathy,_lethal,_due_to_defective_mitochondrial_peroxisomal_fission_1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OSBPL7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000145798.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			101	1		102
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	101	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OSBPL7	protein_coding	protein_coding	ENST00000007414	22	14463

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00287	0.997	125704	0	44	125748	0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.13	392	530	0.740	0.0000348	5478
Missense in Polyphen		138	213.63	0.64599		2226
Synonymous	0.651	199	211	0.943	0.0000135	1666
Loss of Function	4.76	15	52.0	0.288	0.00000284	529

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000119
Ashkenazi Jewish	0.0000995	0.0000992
East Asian	0.000276	0.000272
Finnish	0.000508	0.000508
European (Non-Finnish)	0.000153	0.000149
Middle Eastern	0.000276	0.000272
South Asian	0.000232	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Metabolism of lipids;Metabolism;Synthesis of bile acids and bile salts;Bile acid and bile salt metabolism;Metabolism of steroids (Consensus)

Recessive Scores

• pRec: 0.0972

Intolerance Scores

• loftool: 0.642
• rvis_EVS: -0.84
• rvis_percentile_EVS: 11.45

Haploinsufficiency Scores

• pHI: 0.182
• hipred: Y
• hipred_score: 0.563
• ghis: 0.491

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.157

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Osbpl7

Gene ontology

• Biological process: bile acid biosynthetic process;regulation of autophagy;sterol transport;cellular response to cholesterol;positive regulation of proteasomal protein catabolic process
• Cellular component: autophagosome;endoplasmic reticulum membrane;cytosol;plasma membrane;membrane;intracellular membrane-bounded organelle;perinuclear endoplasmic reticulum
• Molecular function: protein binding;lipid binding;sterol transporter activity;cholesterol binding;sterol binding