OSBPL7

protein-coding

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

Gene summary

This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

MANE transcript

NM_145798.3

Inheritance

—

ClinVar variants

U:113B:2

Top phenotype

Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1

gnomAD constraint

pLI —, LoF o/e 0.29

Max pathogenic AF

—

Genomic locus

chr17:47,807,372-47,821,803

External References & Databases

Ensembl (ENSG00000006025)

Transcript & Mutation Effects

hg38 • Region Span ~14.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to OSBPL7 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 108

not providedTotal: 2

Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_145798.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar		2
missense			108 clinvar	1 clinvar		109
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	113	2	0	115

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_145798.3	RefSeq	NP_665741.1	22	MANE Select
ENST00000007414.8	Ensembl	ENSP00000007414.3	22	MANE Select
ENST00000578461.1	Ensembl	ENSP00000464624.1	2	Standard
ENST00000579728.5	Ensembl	ENSP00000463599.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of lipids
Metabolism
Synthesis of bile acids and bile salts
Bile acid and bile salt metabolism
Metabolism of steroids

Biological Process

bile acid biosynthetic process
regulation of autophagy
sterol transport
cellular response to cholesterol
positive regulation of proteasomal protein catabolic process

Molecular Function

protein binding
lipid binding
sterol transporter activity
cholesterol binding
sterol binding

Cellular Component

autophagosome
endoplasmic reticulum membrane
cytosol
plasma membrane
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000007414
Coding exons: 22
Length: 14463
Individuals with no LoFs: 125704
Homozygous LoFs: 0
Heterozygous LoFs: 44
Defined: 125748
p: 0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.13	392	530	0.740	0.0000348	5478
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00028	0.00027	rare
Finnish	0.00051	0.00051	rare
European (Non-Finnish)	0.00015	0.00015	rare
South Asian	0.00023	0.00023	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0972

Intolerance Scores

LoFtool: 0.642
RVIS EVS: -0.84
RVIS percentile EVS: 11.45

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.157

Gene Damage Prediction

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