AKIRIN2
Basic information
Region (hg38): 6:87674860-87702233
Previous symbols: [ "C6orf166" ]
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 AKIRIN2 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 | 5 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 2 | 2 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 5 | 0 | 0 |
Variants in AKIRIN2
This is a list of pathogenic ClinVar variants found in the AKIRIN2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 6-87675861-G-A | Benign (Feb 25, 2018) | |||
| 6-87677829-G-A | not specified | Uncertain significance (Sep 22, 2023) | ||
| 6-87681616-T-C | Benign (Nov 19, 2018) | |||
| 6-87681649-G-A | not specified | Uncertain significance (Mar 08, 2024) | ||
| 6-87681697-C-T | not specified | Uncertain significance (Sep 29, 2023) | ||
| 6-87701602-G-C | not specified | Uncertain significance (Mar 24, 2023) | ||
| 6-87701623-G-A | not specified | Uncertain significance (Dec 06, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AKIRIN2 | protein_coding | protein_coding | ENST00000257787 | 5 | 27138 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.924 | 0.0764 | 125722 | 0 | 4 | 125726 | 0.0000159 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.30 | 61 | 97.2 | 0.628 | 0.00000543 | 1267 |
| Missense in Polyphen | 16 | 38.087 | 0.42009 | 486 | ||
| Synonymous | -1.12 | 46 | 37.3 | 1.23 | 0.00000208 | 403 |
| Loss of Function | 3.03 | 1 | 12.6 | 0.0792 | 8.76e-7 | 132 |
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) | 0.0000266 | 0.0000264 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000347 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Required for the innate immune response. Downstream effector of the Toll-like receptor (TLR), TNF and IL-1 beta signaling pathways leading to the production of IL-6. Forms a complex with YWHAB that acts to repress transcription of DUSP1 (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.118
Haploinsufficiency Scores
- pHI
- 0.881
- hipred
- Y
- hipred_score
- 0.664
- ghis
- 0.640
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.967
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Akirin2
- 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
- negative regulation of transcription by RNA polymerase II;positive regulation of cell population proliferation;embryo development ending in birth or egg hatching;positive regulation of endopeptidase activity;response to lipopolysaccharide;positive regulation of interleukin-6 production;innate immune response;positive regulation of transcription by RNA polymerase II
- Cellular component
- nucleus;nucleoplasm;transcriptional repressor complex
- Molecular function
- protein binding;enzyme binding