TNFAIP8
Basic information
Region (hg38): 5:119268692-119399688
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 TNFAIP8 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 | 10 | 10 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 10 | 0 | 0 |
Variants in TNFAIP8
This is a list of pathogenic ClinVar variants found in the TNFAIP8 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-119356095-A-G | not specified | Uncertain significance (Apr 01, 2024) | ||
| 5-119393121-G-A | not specified | Uncertain significance (Mar 15, 2024) | ||
| 5-119393157-C-T | not specified | Uncertain significance (Dec 08, 2023) | ||
| 5-119393158-G-A | not specified | Uncertain significance (Feb 23, 2023) | ||
| 5-119393202-C-T | not specified | Uncertain significance (Aug 30, 2022) | ||
| 5-119393218-G-A | not specified | Uncertain significance (Jun 19, 2024) | ||
| 5-119393233-A-G | not specified | Uncertain significance (May 28, 2023) | ||
| 5-119393274-G-C | not specified | Uncertain significance (Jul 19, 2022) | ||
| 5-119393295-T-A | not specified | Uncertain significance (May 24, 2023) | ||
| 5-119393299-A-G | not specified | Uncertain significance (Dec 05, 2022) | ||
| 5-119393356-A-C | not specified | Uncertain significance (Dec 21, 2023) | ||
| 5-119393357-A-C | not specified | Uncertain significance (Dec 18, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| TNFAIP8 | protein_coding | protein_coding | ENST00000504771 | 2 | 130997 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.385 | 0.576 | 124579 | 0 | 5 | 124584 | 0.0000201 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.445 | 90 | 103 | 0.876 | 0.00000515 | 1325 |
| Missense in Polyphen | 37 | 51.46 | 0.719 | 706 | ||
| Synonymous | -0.111 | 40 | 39.1 | 1.02 | 0.00000195 | 347 |
| Loss of Function | 1.63 | 1 | 4.88 | 0.205 | 2.03e-7 | 82 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000444 | 0.0000443 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Acts as a negative mediator of apoptosis and may play a role in tumor progression. Suppresses the TNF-mediated apoptosis by inhibiting caspase-8 activity but not the processing of procaspase-8, subsequently resulting in inhibition of BID cleavage and caspase-3 activation. {ECO:0000269|PubMed:10644768, ECO:0000269|PubMed:11346652, ECO:0000269|PubMed:14724590}.;
- Pathway
- Metabolism of lipids;Metabolism;PI Metabolism;Phospholipid metabolism
(Consensus)
Recessive Scores
- pRec
- 0.420
Intolerance Scores
- loftool
- 0.421
- rvis_EVS
- -0.1
- rvis_percentile_EVS
- 46.2
Haploinsufficiency Scores
- pHI
- 0.503
- hipred
- N
- hipred_score
- 0.292
- ghis
- 0.644
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.912
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Tnfaip8
- Phenotype
- growth/size/body region phenotype; homeostasis/metabolism phenotype; cellular phenotype; digestive/alimentary phenotype; hematopoietic system phenotype; immune system phenotype;
Gene ontology
- Biological process
- apoptotic process;positive regulation of apoptotic process;negative regulation of apoptotic process;negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
- Cellular component
- nucleoplasm;cytoplasm
- Molecular function
- protein binding;cysteine-type endopeptidase inhibitor activity involved in apoptotic process