TRIP10
Basic information
Region (hg38): 19:6737925-6751530
Previous symbols: [ "STOT" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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. These statistics are base on trasncript: . 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.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 60 | 64 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 60 | 1 | 3 |
GnomAD
Source:
| 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:
- 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