STARD6

StAR related lipid transfer domain containing 6, the group of StAR related lipid transfer domain containing

Basic information

Region (hg38): 18:54324357-54357964

Links

ENSG00000174448 ∙ NCBI:147323 ∙ OMIM:607051 ∙ HGNC:18066 ∙ Uniprot:P59095 ∙ 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 STARD6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STARD6 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			13	2		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	2	0

Variants in STARD6

This is a list of pathogenic ClinVar variants found in the STARD6 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-54324742-C-T		not specified	Likely benign (Apr 15, 2024)
18-54324813-G-A		not specified	Uncertain significance (Dec 16, 2023)
18-54324837-G-T		not specified	Uncertain significance (May 03, 2023)
18-54324844-C-G		not specified	Uncertain significance (Mar 30, 2024)
18-54329378-G-C		not specified	Likely benign (Nov 08, 2021)
18-54329383-T-C		not specified	Uncertain significance (Apr 17, 2024)
18-54329392-C-T		not specified	Uncertain significance (Jan 08, 2024)
18-54329398-T-C		not specified	Uncertain significance (Oct 27, 2021)
18-54331766-C-T		not specified	Uncertain significance (Jun 11, 2021)
18-54331772-G-A		not specified	Uncertain significance (Dec 02, 2022)
18-54331783-A-G		not specified	Uncertain significance (Sep 29, 2022)
18-54331790-C-T		not specified	Uncertain significance (Jul 20, 2021)
18-54331801-C-T		not specified	Uncertain significance (Oct 12, 2021)
18-54331804-G-A		not specified	Uncertain significance (Feb 28, 2023)
18-54331820-C-A		not specified	Uncertain significance (Aug 16, 2022)
18-54331820-C-T		not specified	Likely benign (Nov 15, 2021)
18-54331838-T-C		not specified	Uncertain significance (Oct 12, 2022)
18-54337246-C-T		not specified	Uncertain significance (Jan 30, 2024)
18-54354516-C-A		not specified	Uncertain significance (Mar 19, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STARD6	protein_coding	protein_coding	ENST00000581310	6	33607

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000265	0.794	125488	3	245	125736	0.000987

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0232	120	121	0.994	0.00000626	1442
Missense in Polyphen		34	37.475	0.90728		460
Synonymous	0.186	39	40.5	0.963	0.00000208	403
Loss of Function	1.12	7	11.0	0.635	5.29e-7	142

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0125	0.0124
Ashkenazi Jewish	0.00	0.00
East Asian	0.000382	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.000124	0.000123
Middle Eastern	0.000382	0.000381
South Asian	0.000464	0.000457
Other	0.000652	0.000652

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;Pregnenolone biosynthesis;Metabolism of steroid hormones;Metabolism of steroids;Steroid hormones (Consensus)

Recessive Scores

• pRec: 0.0635

Intolerance Scores

• loftool: 0.610
• rvis_EVS: 0.95
• rvis_percentile_EVS: 89.96

Haploinsufficiency Scores

• pHI: 0.0577
• hipred: N
• hipred_score: 0.145

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0937

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Stard6

Gene ontology

• Biological process: lipid transport
• Molecular function: lipid binding