STARD8

StAR related lipid transfer domain containing 8, the group of StAR related lipid transfer domain containing|Rho GTPase activating proteins

Basic information

Region (hg38): X:68647666-68725842

Links

ENSG00000130052 ∙ NCBI:9754 ∙ OMIM:300689 ∙ HGNC:19161 ∙ Uniprot:Q92502 ∙ 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 STARD8 gene.

• not_specified (131 variants)
• not_provided (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STARD8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001142503.3. 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				5	3	8
missense			119	16	1	136
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	119	21	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STARD8	protein_coding	protein_coding	ENST00000374599	15	78177

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0245	0.975	125721	4	13	125738	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.374	436	459	0.951	0.0000395	7124
Missense in Polyphen		92	116	0.7931		1941
Synonymous	-0.338	193	187	1.03	0.0000160	2262
Loss of Function	3.70	9	31.4	0.287	0.00000224	524

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000244	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000731	0.0000544
Finnish	0.0000767	0.0000462
European (Non-Finnish)	0.000116	0.0000791
Middle Eastern	0.0000731	0.0000544
South Asian	0.000115	0.0000653
Other	0.000222	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Accelerates GTPase activity of RHOA and CDC42, but not RAC1. Stimulates the hydrolysis of phosphatidylinositol 4,5- bisphosphate by PLCD1. {ECO:0000269|PubMed:17976533}.
• Pathway: Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases (Consensus)

Recessive Scores

• pRec: 0.124

Intolerance Scores

• loftool: 0.569
• rvis_EVS: 0.74
• rvis_percentile_EVS: 86.36

Haploinsufficiency Scores

• pHI: 0.234
• hipred: N
• hipred_score: 0.492
• ghis: 0.469

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.255

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Stard8

Gene ontology

• Biological process: signal transduction;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction
• Cellular component: cytosol;focal adhesion
• Molecular function: GTPase activator activity;lipid binding