STARD5

StAR related lipid transfer domain containing 5, the group of StAR related lipid transfer domain containing

Basic information

Region (hg38): 15:81309052-81324183

Links

ENSG00000172345 ∙ NCBI:80765 ∙ OMIM:607050 ∙ HGNC:18065 ∙ Uniprot:Q9NSY2 ∙ 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 STARD5 gene.

• Inborn genetic diseases (6 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STARD5 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	6	0	1

Variants in STARD5

This is a list of pathogenic ClinVar variants found in the STARD5 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-81309441-T-C			Benign (Jul 15, 2020)
15-81313302-C-T		not specified	Uncertain significance (Aug 02, 2021)
15-81313374-A-G		not specified	Uncertain significance (Sep 16, 2021)
15-81313385-G-C		not specified	Uncertain significance (Dec 18, 2023)
15-81318472-G-A		not specified	Uncertain significance (Oct 12, 2021)
15-81319416-A-C		not specified	Uncertain significance (Aug 03, 2022)
15-81319428-G-A		not specified	Uncertain significance (Aug 14, 2023)
15-81324030-T-G		not specified	Uncertain significance (Sep 06, 2022)
15-81324057-C-T		not specified	Uncertain significance (Oct 30, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STARD5	protein_coding	protein_coding	ENST00000302824	6	15131

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000618	0.727	125695	0	53	125748	0.000211

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.582	100	118	0.849	0.00000607	1382
Missense in Polyphen		34	44.306	0.76739		507
Synonymous	0.318	42	44.7	0.939	0.00000251	410
Loss of Function	1.02	8	11.8	0.680	7.81e-7	118

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000904	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.000707	0.000707
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000627	0.0000615
Middle Eastern	0.000707	0.000707
South Asian	0.000915	0.000915
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in the intracellular transport of sterols or other lipids. May bind cholesterol or other sterols (By similarity). {ECO:0000250}.
• Pathway: Metabolism of lipids;Metabolism;Recycling of bile acids and salts;Bile acid and bile salt metabolism;Metabolism of steroids (Consensus)

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.355
• rvis_EVS: 0.42
• rvis_percentile_EVS: 76.81

Haploinsufficiency Scores

• pHI: 0.0638
• hipred: N
• hipred_score: 0.369
• ghis: 0.463

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.167

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Stard5
• Phenotype: growth/size/body region phenotype; skeleton phenotype

Gene ontology

• Biological process: bile acid and bile salt transport;cholesterol import
• Cellular component: cytosol
• Molecular function: cholesterol binding;cholesterol transporter activity;bile acid binding