STARD13

StAR related lipid transfer domain containing 13, the group of StAR related lipid transfer domain containing|Rho GTPase activating proteins

Basic information

Region (hg38): 13:33103137-33350630

Previous symbols: [ "LINC00464" ]

Links

ENSG00000133121

∙ NCBI:90627 ∙ OMIM:609866 ∙ HGNC:19164 ∙ Uniprot:Q9Y3M8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the STARD13 gene.

not_specified (134 variants)
not_provided (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STARD13 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000178006.4. 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				6 clinvar	9 clinvar	15
missense			128 clinvar	8 clinvar		136
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	128	14	9

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STARD13	protein_coding	protein_coding	ENST00000336934	14	247496

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.35e-8	1.00	125702	0	46	125748	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.255	624	642	0.972	0.0000378	7331
Missense in Polyphen		170	214.55	0.79236		2553
Synonymous	-2.15	306	262	1.17	0.0000170	2176
Loss of Function	3.53	21	47.2	0.445	0.00000260	529

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000546	0.000546
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000189	0.000185
Middle Eastern	0.000109	0.000109
South Asian	0.000328	0.000327
Other	0.000350	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: GTPase-activating protein for RhoA, and perhaps for Cdc42. May be involved in regulation of cytoskeletal reorganization, cell proliferation and cell motility. Acts a tumor suppressor in hepatocellular carcinoma cells. {ECO:0000269|PubMed:14697242, ECO:0000269|PubMed:16217026}.;
Pathway: Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases (Consensus)

Recessive Scores

pRec: 0.130

Intolerance Scores

loftool: 0.773
rvis_EVS: -1.27
rvis_percentile_EVS: 5.21

Haploinsufficiency Scores

pHI: 0.551
hipred: Y
hipred_score: 0.545
ghis: 0.551

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.895

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Stard13
Phenotype: neoplasm; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); immune system phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: signal transduction;endothelial cell migration;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction;negative regulation of cell migration involved in sprouting angiogenesis;endothelial tube lumen extension
Cellular component: lipid droplet;cytosol;mitochondrial membrane
Molecular function: GTPase activator activity;protein binding;lipid binding