TSG101
tumor susceptibility 101, the group of ESCRT-I
Basic information
Region (hg38): 11:18468336-18526951
Previous symbols: [ "TSG10" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
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 TSG101 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 | |||||
| missense | 14 | 14 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 14 | 0 | 1 |
Variants in TSG101
This is a list of pathogenic ClinVar variants found in the TSG101 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 11-18475523-T-C | not specified | Uncertain significance (Feb 17, 2024) | ||
| 11-18475600-T-G | not specified | Uncertain significance (May 30, 2022) | ||
| 11-18475604-A-G | not specified | Uncertain significance (Aug 11, 2022) | ||
| 11-18475637-G-C | not specified | Uncertain significance (Feb 06, 2024) | ||
| 11-18475638-T-G | not specified | Uncertain significance (Jan 30, 2024) | ||
| 11-18476410-G-A | not specified | Uncertain significance (Aug 26, 2022) | ||
| 11-18476444-T-A | not specified | Uncertain significance (Dec 16, 2023) | ||
| 11-18477715-G-C | not specified | Uncertain significance (Dec 28, 2022) | ||
| 11-18478707-G-A | not specified | Uncertain significance (Mar 20, 2024) | ||
| 11-18478718-A-G | not specified | Uncertain significance (Jan 22, 2024) | ||
| 11-18478778-C-T | not specified | Uncertain significance (May 11, 2022) | ||
| 11-18478794-T-G | not specified | Uncertain significance (Mar 19, 2024) | ||
| 11-18480550-T-C | not specified | Uncertain significance (Sep 06, 2022) | ||
| 11-18481704-C-T | not specified | Uncertain significance (Dec 13, 2022) | ||
| 11-18481759-G-A | Benign (Aug 16, 2018) | |||
| 11-18481770-C-T | not specified | Uncertain significance (Jun 27, 2023) | ||
| 11-18483886-C-T | not specified | Uncertain significance (Oct 12, 2021) | ||
| 11-18483914-G-T | not specified | Uncertain significance (Mar 19, 2024) | ||
| 11-18483971-G-A | not specified | Uncertain significance (Apr 12, 2022) | ||
| 11-18483986-T-C | not specified | Uncertain significance (Apr 01, 2024) | ||
| 11-18484046-C-T | not specified | Uncertain significance (Feb 22, 2023) | ||
| 11-18484066-C-T | not specified | Uncertain significance (Jan 30, 2024) | ||
| 11-18502489-C-T | not specified | Uncertain significance (Dec 13, 2023) | ||
| 11-18502518-T-G | not specified | Uncertain significance (Dec 17, 2023) | ||
| 11-18506878-G-T | not specified | Uncertain significance (Nov 09, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| TSG101 | protein_coding | protein_coding | ENST00000251968 | 10 | 58897 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.344 | 0.656 | 125737 | 0 | 10 | 125747 | 0.0000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.00 | 136 | 219 | 0.620 | 0.0000116 | 2539 |
| Missense in Polyphen | 21 | 64.214 | 0.32703 | 766 | ||
| Synonymous | 0.359 | 75 | 79.1 | 0.949 | 0.00000429 | 757 |
| Loss of Function | 3.34 | 5 | 21.9 | 0.229 | 0.00000119 | 255 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000290 | 0.0000290 |
| Ashkenazi Jewish | 0.000111 | 0.0000992 |
| East Asian | 0.000164 | 0.000163 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000268 | 0.0000264 |
| Middle Eastern | 0.000164 | 0.000163 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.000164 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs). Mediates the association between the ESCRT-0 and ESCRT-I complex. Required for completion of cytokinesis; the function requires CEP55. May be involved in cell growth and differentiation. Acts as a negative growth regulator. Involved in the budding of many viruses through an interaction with viral proteins that contain a late-budding motif P-[ST]-A-P. This interaction is essential for viral particle budding of numerous retroviruses. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). It may also play a role in the extracellular release of microvesicles that differ from the exosomes (PubMed:22315426). {ECO:0000269|PubMed:11916981, ECO:0000269|PubMed:17556548, ECO:0000269|PubMed:17853893, ECO:0000269|PubMed:21070952, ECO:0000269|PubMed:21757351, ECO:0000269|PubMed:22315426, ECO:0000269|PubMed:22660413}.;
- Pathway
- Endocytosis - Homo sapiens (human);Ebola Virus Pathway on Host;Ebola Virus Pathway on Host;Disease;Vesicle-mediated transport;Membrane Trafficking;Assembly Of The HIV Virion;Budding and maturation of HIV virion;Late Phase of HIV Life Cycle;HIV Life Cycle;HIV Infection;Endosomal Sorting Complex Required For Transport (ESCRT);TCR;Infectious disease;Membrane binding and targetting of GAG proteins;Synthesis And Processing Of GAG, GAGPOL Polyproteins;Internalization of ErbB1
(Consensus)
Recessive Scores
- pRec
- 0.152
Intolerance Scores
- loftool
- 0.339
- rvis_EVS
- -0.16
- rvis_percentile_EVS
- 41.64
Haploinsufficiency Scores
- pHI
- 0.872
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.509
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.949
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Tsg101
- Phenotype
- homeostasis/metabolism phenotype; cellular phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); embryo phenotype; renal/urinary system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- regulation of cell growth;protein monoubiquitination;extracellular transport;cell cycle arrest;negative regulation of epidermal growth factor-activated receptor activity;negative regulation of cell population proliferation;endosome to lysosome transport;protein transport;endosomal transport;macroautophagy;viral life cycle;keratinocyte differentiation;multivesicular body assembly;viral budding via host ESCRT complex;negative regulation of epidermal growth factor receptor signaling pathway;ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;regulation of MAP kinase activity;negative regulation of transcription, DNA-templated;viral budding;cell division;autophagosome maturation;regulation of viral release from host cell;positive regulation of viral release from host cell;positive regulation of nucleic acid-templated transcription;positive regulation of exosomal secretion;regulation of extracellular exosome assembly;positive regulation of viral budding via host ESCRT complex;exosomal secretion;positive regulation of ubiquitin-dependent endocytosis
- Cellular component
- ESCRT I complex;nucleolus;cytoplasm;endosome;early endosome;late endosome;multivesicular body;microtubule organizing center;cytosol;plasma membrane;endosome membrane;early endosome membrane;late endosome membrane;extracellular exosome;Flemming body
- Molecular function
- DNA binding;transcription corepressor activity;protein binding;nuclear receptor transcription coactivator activity;ubiquitin protein ligase binding;protein homodimerization activity;ubiquitin binding;protein-containing complex binding;virion binding;calcium-dependent protein binding