TRIP10

thyroid hormone receptor interactor 10, the group of F-BAR domain containing |Minor histocompatibility antigens

Basic information

Region (hg38): 19:6737924-6751530

Previous symbols: [ "STOT" ]

Links

ENSG00000125733 ∙ NCBI:9322 ∙ OMIM:604504 ∙ HGNC:12304 ∙ Uniprot:Q15642 ∙ 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 TRIP10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIP10 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			44	1	3	48
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	44	1	3

Variants in TRIP10

This is a list of pathogenic ClinVar variants found in the TRIP10 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-6743035-T-C		not specified	Uncertain significance (Jan 06, 2023)
19-6743037-G-C		not specified	Uncertain significance (Nov 13, 2023)
19-6743053-G-A		not specified	Uncertain significance (Mar 14, 2023)
19-6743058-C-T		not specified	Uncertain significance (Aug 30, 2022)
19-6743212-C-G		not specified	Uncertain significance (Sep 17, 2021)
19-6743213-G-A		not specified	Uncertain significance (May 31, 2023)
19-6743219-A-G		not specified	Uncertain significance (Apr 15, 2024)
19-6743236-G-T		not specified	Uncertain significance (Jan 24, 2024)
19-6743237-G-A		not specified	Uncertain significance (Dec 21, 2022)
19-6743245-C-G		not specified	Uncertain significance (Jul 28, 2021)
19-6743500-C-G		not specified	Uncertain significance (Jun 04, 2024)
19-6743554-C-T		not specified	Uncertain significance (Jan 04, 2022)
19-6743567-A-G		not specified	Uncertain significance (Dec 07, 2021)
19-6743732-A-G		not specified	Uncertain significance (Jan 26, 2022)
19-6743781-G-A		not specified	Uncertain significance (May 24, 2024)
19-6743834-G-A		not specified	Uncertain significance (Dec 11, 2023)
19-6744568-G-A		not specified	Uncertain significance (Dec 03, 2021)
19-6744608-C-T		not specified	Uncertain significance (Apr 07, 2022)
19-6744663-G-A		not specified	Uncertain significance (Feb 08, 2023)
19-6744809-G-A		not specified	Uncertain significance (Oct 20, 2023)
19-6744816-T-C		not specified	Uncertain significance (Feb 07, 2023)
19-6744854-G-A		not specified	Uncertain significance (Jun 23, 2023)
19-6744891-C-T		not specified	Likely benign (Sep 14, 2022)
19-6744921-C-T		not specified	Uncertain significance (Dec 14, 2023)
19-6744953-C-T		not specified	Uncertain significance (Oct 26, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIP10	protein_coding	protein_coding	ENST00000313285	14	13602

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000167	1.00	125724	0	24	125748	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.563	321	351	0.915	0.0000221	3604
Missense in Polyphen		120	135.06	0.88848		1336
Synonymous	-0.406	138	132	1.04	0.00000819	1009
Loss of Function	3.16	14	33.9	0.413	0.00000181	358

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000125	0.000123
Middle Eastern	0.0000544	0.0000544
South Asian	0.000131	0.000131
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for translocation of GLUT4 to the plasma membrane in response to insulin signaling (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by recruiting WASL/N- WASP which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Required for the formation of podosomes, actin-rich adhesion structures specific to monocyte-derived cells. May be required for the lysosomal retention of FASLG/FASL. {ECO:0000250, ECO:0000269|PubMed:11069762, ECO:0000269|PubMed:16318909, ECO:0000269|PubMed:16326391}.
• Pathway: Insulin signaling pathway - Homo sapiens (human);Angiopoietin Like Protein 8 Regulatory Pathway;Signal Transduction;Vesicle-mediated transport;Membrane Trafficking;Rho GTPase cycle;Signaling by Rho GTPases;Clathrin-mediated endocytosis;Insulin Pathway;Insulin-mediated glucose transport (Consensus)

Recessive Scores

• pRec: 0.190

Intolerance Scores

• loftool: 0.517
• rvis_EVS: -0.86
• rvis_percentile_EVS: 10.85

Haploinsufficiency Scores

• pHI: 0.380
• hipred: Y
• hipred_score: 0.694
• ghis: 0.536

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.992

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trip10
• Phenotype: adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: endocytosis;cell communication;signal transduction;actin cytoskeleton organization;positive regulation of GTPase activity;regulation of small GTPase mediated signal transduction;membrane organization
• Cellular component: phagocytic cup;nucleoplasm;cytoplasm;lysosome;Golgi apparatus;cytosol;cytoskeleton;cell cortex;cell projection;intracellular membrane-bounded organelle;perinuclear region of cytoplasm;extracellular exosome
• Molecular function: GTPase activator activity;protein binding;lipid binding;identical protein binding