AHSA1
Basic information
Region (hg38): 14:77457870-77469472
Previous symbols: [ "C14orf3" ]
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 AHSA1 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 | 11 | 12 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 11 | 1 | 0 |
Variants in AHSA1
This is a list of pathogenic ClinVar variants found in the AHSA1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 14-77458238-G-A | not specified | Uncertain significance (May 28, 2024) | ||
| 14-77459635-A-C | not specified | Uncertain significance (Nov 09, 2023) | ||
| 14-77462163-C-T | not specified | Uncertain significance (Aug 08, 2023) | ||
| 14-77462174-G-A | not specified | Uncertain significance (Jan 23, 2023) | ||
| 14-77462174-G-C | not specified | Uncertain significance (Dec 27, 2022) | ||
| 14-77462685-T-C | Likely benign (Dec 31, 2019) | |||
| 14-77464681-C-T | not specified | Uncertain significance (Jun 17, 2024) | ||
| 14-77464691-A-G | Benign (Dec 31, 2019) | |||
| 14-77465618-C-A | not specified | Uncertain significance (Sep 12, 2023) | ||
| 14-77465638-G-A | not specified | Uncertain significance (Jan 02, 2024) | ||
| 14-77468086-G-T | not specified | Uncertain significance (Jul 30, 2023) | ||
| 14-77468469-C-T | not specified | Uncertain significance (Oct 26, 2022) | ||
| 14-77469181-C-G | not specified | Uncertain significance (Nov 17, 2022) | ||
| 14-77469193-C-T | not specified | Uncertain significance (Feb 28, 2023) | ||
| 14-77469220-A-T | not specified | Uncertain significance (Dec 20, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AHSA1 | protein_coding | protein_coding | ENST00000216479 | 9 | 11605 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.999 | 0.00104 | 125487 | 0 | 1 | 125488 | 0.00000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.69 | 119 | 184 | 0.648 | 0.00000999 | 2205 |
| Missense in Polyphen | 41 | 69.534 | 0.58964 | 878 | ||
| Synonymous | 0.888 | 58 | 67.3 | 0.862 | 0.00000386 | 623 |
| Loss of Function | 4.14 | 0 | 19.9 | 0.00 | 9.97e-7 | 238 |
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) | 0.00000882 | 0.00000882 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Acts as a co-chaperone of HSP90AA1 (PubMed:29127155). Activates the ATPase activity of HSP90AA1 leading to increase in its chaperone activity (PubMed:29127155). Competes with the inhibitory co-chaperone FNIP1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:27353360). Competes with the inhibitory co-chaperone TSC1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:29127155). {ECO:0000269|PubMed:27353360, ECO:0000269|PubMed:29127155}.;
- Pathway
- T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection
(Consensus)
Recessive Scores
- pRec
- 0.121
Intolerance Scores
- loftool
- 0.150
- rvis_EVS
- -0.32
- rvis_percentile_EVS
- 31.69
Haploinsufficiency Scores
- pHI
- 0.852
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.568
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.560
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ahsa1
- Phenotype
Zebrafish Information Network
- Gene name
- ahsa1a
- Affected structure
- regulation of cellular response to stress
- Phenotype tag
- abnormal
- Phenotype quality
- increased process quality
Gene ontology
- Biological process
- positive regulation of ATPase activity
- Cellular component
- endoplasmic reticulum;cytosol;extracellular exosome
- Molecular function
- ATPase activator activity;protein binding;cadherin binding;chaperone binding;Hsp90 protein binding