API5
Basic information
Region (hg38): 11:43311963-43344529
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 API5 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 | 12 | 13 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 12 | 1 | 0 |
Variants in API5
This is a list of pathogenic ClinVar variants found in the API5 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
11-43320863-G-A | not specified | Uncertain significance (Jun 28, 2023) | ||
11-43323473-A-G | not specified | Uncertain significance (Jan 13, 2023) | ||
11-43323613-C-T | not specified | Uncertain significance (Sep 30, 2024) | ||
11-43326516-C-G | not specified | Uncertain significance (Aug 14, 2023) | ||
11-43326559-C-G | not specified | Uncertain significance (Aug 26, 2024) | ||
11-43326580-C-T | not specified | Uncertain significance (Apr 23, 2024) | ||
11-43328718-A-G | not specified | Uncertain significance (Nov 24, 2024) | ||
11-43328874-C-G | not specified | Uncertain significance (Dec 27, 2023) | ||
11-43330041-G-A | not specified | Uncertain significance (Jan 27, 2022) | ||
11-43335874-G-A | not specified | Uncertain significance (Nov 11, 2024) | ||
11-43335881-C-A | not specified | Uncertain significance (Nov 11, 2024) | ||
11-43335890-G-A | not specified | Uncertain significance (Jan 23, 2024) | ||
11-43342447-G-A | not specified | Likely benign (Oct 17, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
API5 | protein_coding | protein_coding | ENST00000531273 | 14 | 32567 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.00 | 0.0000406 | 125656 | 0 | 1 | 125657 | 0.00000398 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.92 | 139 | 276 | 0.504 | 0.0000139 | 3417 |
Missense in Polyphen | 26 | 85.593 | 0.30376 | 1196 | ||
Synonymous | 0.835 | 90 | 101 | 0.894 | 0.00000493 | 998 |
Loss of Function | 5.16 | 1 | 33.0 | 0.0303 | 0.00000188 | 383 |
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) | 0.00000879 | 0.00000879 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Antiapoptotic factor that may have a role in protein assembly. Negatively regulates ACIN1. By binding to ACIN1, it suppresses ACIN1 cleavage from CASP3 and ACIN1-mediated DNA fragmentation. Also known to efficiently suppress E2F1-induced apoptosis. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. {ECO:0000269|PubMed:10780674, ECO:0000269|PubMed:17112319, ECO:0000269|PubMed:19387494}.;
Recessive Scores
- pRec
- 0.113
Intolerance Scores
- loftool
- 0.385
- rvis_EVS
- -0.34
- rvis_percentile_EVS
- 30.07
Haploinsufficiency Scores
- pHI
- 0.734
- hipred
- Y
- hipred_score
- 0.749
- ghis
- 0.724
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.539
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Api5
- Phenotype
Gene ontology
- Biological process
- apoptotic process;negative regulation of apoptotic process;negative regulation of fibroblast apoptotic process
- Cellular component
- nucleus;spliceosomal complex;cytoplasm;membrane;nuclear speck
- Molecular function
- RNA binding;protein binding;fibroblast growth factor binding