STARD10

StAR related lipid transfer domain containing 10, the group of StAR related lipid transfer domain containing

Basic information

Region (hg38): 11:72754728-72794047

Previous symbols: [ "SDCCAG28" ]

Links

ENSG00000214530 ∙ NCBI:10809 ∙ OMIM:617382 ∙ HGNC:10666 ∙ Uniprot:Q9Y365 ∙ 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 STARD10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STARD10 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					1	1
missense			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	0	1

Variants in STARD10

This is a list of pathogenic ClinVar variants found in the STARD10 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-72754901-G-T		not specified	Uncertain significance (Dec 20, 2023)
11-72754915-G-C		not specified	Uncertain significance (Mar 01, 2024)
11-72754929-C-T		not specified	Uncertain significance (Sep 17, 2021)
11-72754972-C-T			Benign (Aug 15, 2017)
11-72754985-A-G		not specified	Uncertain significance (Jan 06, 2023)
11-72755015-G-A		not specified	Uncertain significance (Mar 02, 2023)
11-72755034-G-C		not specified	Uncertain significance (Jan 07, 2022)
11-72755057-G-A		not specified	Uncertain significance (Aug 30, 2022)
11-72755132-T-A		not specified	Uncertain significance (Mar 12, 2024)
11-72755741-T-G		not specified	Uncertain significance (May 25, 2022)
11-72757802-C-T		not specified	Uncertain significance (Jan 17, 2024)
11-72757872-G-A		not specified	Uncertain significance (Dec 27, 2023)
11-72758588-C-T		not specified	Uncertain significance (Aug 08, 2023)
11-72758589-G-A		not specified	Uncertain significance (Aug 28, 2023)
11-72759257-T-C		not specified	Uncertain significance (Feb 16, 2023)
11-72759378-G-A		not specified	Uncertain significance (May 04, 2022)
11-72781068-C-A		not specified	Uncertain significance (Jan 03, 2024)
11-72781076-C-G		not specified	Uncertain significance (Aug 12, 2021)
11-72781124-C-T		not specified	Uncertain significance (Jan 10, 2023)
11-72781130-C-A		not specified	Uncertain significance (Apr 07, 2022)
11-72781160-T-C		not specified	Uncertain significance (Jul 27, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STARD10	protein_coding	protein_coding	ENST00000334805	6	38953

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000817	0.932	124857	0	32	124889	0.000128

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.34	144	197	0.732	0.0000130	1891
Missense in Polyphen		42	59.494	0.70595		553
Synonymous	0.223	84	86.6	0.970	0.00000646	560
Loss of Function	1.67	9	16.3	0.554	8.78e-7	169

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000870	0.0000870
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000195	0.000194
Middle Eastern	0.0000556	0.0000556
South Asian	0.000164	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play metabolic roles in sperm maturation or fertilization (By similarity). Phospholipid transfer protein that preferentially selects lipid species containing a palmitoyl or stearoyl chain on the sn-1 and an unsaturated fatty acyl chain (18:1 or 18:2) on the sn-2 position. Able to transfer phosphatidylcholine (PC) and phosphatidyetanolamline (PE) between membranes. {ECO:0000250, ECO:0000269|PubMed:15911624}.
• Pathway: Metabolism of lipids;Metabolism;Synthesis of PC;Glycerophospholipid biosynthesis;Phospholipid metabolism (Consensus)

Intolerance Scores

• loftool: 0.458
• rvis_EVS: -0.2
• rvis_percentile_EVS: 38.82

Haploinsufficiency Scores

• pHI: 0.231
• hipred: N
• hipred_score: 0.399
• ghis: 0.459

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.397

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Stard10
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; skeleton phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: phosphatidylcholine biosynthetic process;phospholipid transport;bile acid secretion;positive regulation of peroxisome proliferator activated receptor signaling pathway
• Cellular component: cytosol;microvillus;membrane;motile cilium;intercellular canaliculus
• Molecular function: protein binding;phospholipid transporter activity;lipid binding