CASP8AP2
Basic information
Region (hg38): 6:89829894-89874436
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 CASP8AP2 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 | 137 | 12 | 149 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 137 | 12 | 0 |
Variants in CASP8AP2
This is a list of pathogenic ClinVar variants found in the CASP8AP2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 6-89846609-A-G | not specified | Uncertain significance (Feb 27, 2023) | ||
| 6-89853166-C-G | not specified | Uncertain significance (Jan 20, 2023) | ||
| 6-89853193-G-C | not specified | Uncertain significance (Jan 16, 2024) | ||
| 6-89854909-T-C | not specified | Uncertain significance (Apr 22, 2022) | ||
| 6-89862185-T-C | not specified | Uncertain significance (Nov 09, 2024) | ||
| 6-89862199-C-T | not specified | Uncertain significance (Nov 25, 2024) | ||
| 6-89862212-C-A | not specified | Uncertain significance (Jan 21, 2025) | ||
| 6-89862226-G-A | not specified | Uncertain significance (Jun 13, 2024) | ||
| 6-89862256-A-T | not specified | Uncertain significance (Feb 26, 2025) | ||
| 6-89862260-A-T | not specified | Uncertain significance (Mar 07, 2025) | ||
| 6-89862277-C-T | not specified | Uncertain significance (Nov 25, 2024) | ||
| 6-89862395-G-T | not specified | Uncertain significance (Mar 27, 2023) | ||
| 6-89862418-G-C | not specified | Uncertain significance (Feb 20, 2025) | ||
| 6-89862454-G-T | not specified | Uncertain significance (Jul 22, 2024) | ||
| 6-89862467-G-A | not specified | Uncertain significance (Feb 09, 2023) | ||
| 6-89862479-G-C | not specified | Uncertain significance (Feb 12, 2024) | ||
| 6-89862521-G-A | not specified | Uncertain significance (Aug 04, 2023) | ||
| 6-89862581-A-G | not specified | Uncertain significance (Feb 06, 2024) | ||
| 6-89862601-A-T | not specified | Uncertain significance (Jan 23, 2025) | ||
| 6-89862686-C-A | not specified | Uncertain significance (Apr 20, 2023) | ||
| 6-89862703-C-T | not specified | Uncertain significance (Mar 14, 2023) | ||
| 6-89862715-G-C | not specified | Uncertain significance (Sep 24, 2024) | ||
| 6-89862826-A-C | not specified | Uncertain significance (Nov 22, 2024) | ||
| 6-89862877-C-T | not specified | Uncertain significance (Aug 20, 2024) | ||
| 6-89863036-C-A | not specified | Uncertain significance (Jan 16, 2025) |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Participates in TNF-alpha-induced blockade of glucocorticoid receptor (GR) transactivation at the nuclear receptor coactivator level, upstream and independently of NF- kappa-B. Suppresses both NCOA2- and NCOA3-induced enhancement of GR transactivation. Involved in TNF-alpha-induced activation of NF-kappa-B via a TRAF2-dependent pathway. Acts as a downstream mediator for CASP8-induced activation of NF-kappa-B. Required for the activation of CASP8 in FAS-mediated apoptosis. Required for histone gene transcription and progression through S phase. {ECO:0000269|PubMed:12477726, ECO:0000269|PubMed:15698540, ECO:0000269|PubMed:17003125, ECO:0000269|PubMed:17245429}.;
Recessive Scores
- pRec
- 0.151
Haploinsufficiency Scores
- pHI
- 0.121
- hipred
- hipred_score
- ghis
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.549
Mouse Genome Informatics
- Gene name
- Casp8ap2
- 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);
Gene ontology
- Biological process
- activation of cysteine-type endopeptidase activity involved in apoptotic process;cell cycle;signal transduction;extrinsic apoptotic signaling pathway via death domain receptors;Fas signaling pathway;cellular response to mechanical stimulus;apoptotic signaling pathway;negative regulation of nucleic acid-templated transcription
- Cellular component
- nucleus;nucleoplasm;cytoplasm;mitochondrion;PML body
- Molecular function
- DNA binding;transcription corepressor activity;death receptor binding;protein binding;cysteine-type endopeptidase activator activity involved in apoptotic process;peptidase activator activity involved in apoptotic process;SUMO polymer binding