AIM2
absent in melanoma 2, the group of Pyrin domain containing|Pyrin and HIN domain family
Basic information
Region (hg38): 1:159056129-159187843
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (35 variants)
- not_provided (5 variants)
- AIM2-related_disorder (2 variants)
- Hereditary_breast_ovarian_cancer_syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AIM2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004833.3. 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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | |||||
| missense | 30 | 35 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 30 | 5 | 4 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AIM2 | protein_coding | protein_coding | ENST00000368130 | 5 | 84613 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 2.19e-9 | 0.0760 | 125681 | 0 | 66 | 125747 | 0.000262 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.601 | 165 | 188 | 0.877 | 0.00000979 | 2275 |
| Missense in Polyphen | 21 | 35.606 | 0.58979 | 501 | ||
| Synonymous | 0.115 | 68 | 69.2 | 0.982 | 0.00000382 | 646 |
| Loss of Function | -0.143 | 13 | 12.5 | 1.04 | 5.85e-7 | 169 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000869 | 0.000869 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000194 | 0.000193 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.000467 | 0.000457 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in innate immune response by recognizing cytosolic double-stranded DNA and inducing caspase-1-activating inflammasome formation in macrophages. Upon binding to DNA is thought to undergo oligomerization and to associate with PYCARD initiating the recruitment of caspase-1 precusrsor and processing of interleukin-1 beta and interleukin-18. Detects cytosolic dsDNA of viral and bacterial origin in a non-sequence-specific manner. Can also trigger PYCARD-dependent, caspase-1-independent cell death that involves caspase-8 (By similarity). Tumor suppressor which may act by repressing NF-kappa-B transcriptional activity. {ECO:0000250, ECO:0000269|PubMed:16432157, ECO:0000269|PubMed:17726700, ECO:0000269|PubMed:19158675, ECO:0000269|PubMed:19158676, ECO:0000269|PubMed:19158679, ECO:0000269|PubMed:20566831}.;
- Pathway
- Cytosolic DNA-sensing pathway - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);Nucleotide-binding Oligomerization Domain (NOD) pathway;Inflammasomes;Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways;Innate Immune System;Immune System;The AIM2 inflammasome
(Consensus)
Recessive Scores
- pRec
- 0.0929
Intolerance Scores
- loftool
- 0.853
- rvis_EVS
- 0.04
- rvis_percentile_EVS
- 56.92
Haploinsufficiency Scores
- pHI
- 0.0693
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.451
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.889
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Aim2
- Phenotype
- hematopoietic system 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); immune system phenotype; skeleton phenotype; homeostasis/metabolism phenotype; cellular phenotype;
Gene ontology
- Biological process
- activation of innate immune response;positive regulation of defense response to virus by host;apoptotic process;inflammatory response;immune response;negative regulation of NF-kappaB transcription factor activity;positive regulation of protein oligomerization;positive regulation of interleukin-1 beta production;tumor necrosis factor-mediated signaling pathway;cellular response to interferon-beta;cellular response to drug;innate immune response;interleukin-1 beta secretion;positive regulation of interleukin-1 beta secretion;positive regulation of NF-kappaB transcription factor activity;pyroptosis;positive regulation of cysteine-type endopeptidase activity
- Cellular component
- nucleoplasm;cytoplasm;mitochondrion;cytosol;AIM2 inflammasome complex
- Molecular function
- double-stranded DNA binding;protein binding;identical protein binding