STARD4

StAR related lipid transfer domain containing 4, the group of StAR related lipid transfer domain containing

Basic information

Region (hg38): 5:111496033-111512590

Links

ENSG00000164211

∙ NCBI:134429 ∙ OMIM:607049 ∙ HGNC:18058 ∙ Uniprot:Q96DR4 ∙ 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 STARD4 gene.

not_specified (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STARD4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000139164.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			19 clinvar			19
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	19	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STARD4	protein_coding	protein_coding	ENST00000296632	5	16558

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.99e-11	0.0197	125650	0	95	125745	0.000378

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.663	93	113	0.824	0.00000587	1347
Missense in Polyphen		32	36.492	0.8769		480
Synonymous	0.189	33	34.4	0.959	0.00000155	371
Loss of Function	-0.756	14	11.3	1.24	6.26e-7	129

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000460	0.000460
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000141	0.000139
European (Non-Finnish)	0.000529	0.000510
Middle Eastern	0.00	0.00
South Asian	0.000528	0.000523
Other	0.000699	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: 0.122

Intolerance Scores

loftool: 0.694
rvis_EVS: -0.3
rvis_percentile_EVS: 32.62

Haploinsufficiency Scores

pHI: 0.129
hipred: N
hipred_score: 0.350
ghis: 0.626

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.616

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Stard4
Phenotype: liver/biliary system phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: positive regulation of cholesterol esterification;cholesterol transport involved in cholesterol storage;intracellular cholesterol transport;cholesterol import;positive regulation of bile acid biosynthetic process
Cellular component: cytoplasmic vesicle
Molecular function: cholesterol binding;cholesterol transporter activity