HSPA14
Basic information
Region (hg38): 10:14838306-14871741
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 HSPA14 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 | 1 | |||||
missense | 30 | 31 | ||||
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 | 30 | 1 | 1 |
Variants in HSPA14
This is a list of pathogenic ClinVar variants found in the HSPA14 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
10-14838451-G-C | not specified | Uncertain significance (Feb 05, 2024) | ||
10-14839935-G-A | not specified | Uncertain significance (Aug 12, 2022) | ||
10-14848601-A-G | Likely benign (Aug 05, 2018) | |||
10-14848619-C-A | not specified | Uncertain significance (Jan 09, 2024) | ||
10-14848639-C-G | not specified | Uncertain significance (Jun 11, 2024) | ||
10-14848640-G-A | not specified | Likely benign (Oct 03, 2023) | ||
10-14848656-T-C | not specified | Uncertain significance (Jan 08, 2024) | ||
10-14848815-G-A | not specified | Uncertain significance (Jun 16, 2024) | ||
10-14849745-C-T | not specified | Uncertain significance (Nov 27, 2023) | ||
10-14849751-C-G | not specified | Uncertain significance (Dec 02, 2021) | ||
10-14849795-C-A | not specified | Uncertain significance (Feb 27, 2024) | ||
10-14849802-A-G | not specified | Uncertain significance (Nov 14, 2024) | ||
10-14851286-G-A | not specified | Uncertain significance (Nov 14, 2024) | ||
10-14851310-C-G | not specified | Uncertain significance (Jan 23, 2023) | ||
10-14852392-G-C | not specified | Uncertain significance (Dec 05, 2022) | ||
10-14852420-T-C | not specified | Uncertain significance (Dec 19, 2022) | ||
10-14852455-A-G | not specified | Uncertain significance (Jan 04, 2022) | ||
10-14855924-C-T | not specified | Uncertain significance (Oct 12, 2021) | ||
10-14855930-A-T | not specified | Uncertain significance (Dec 06, 2022) | ||
10-14867132-T-C | not specified | Uncertain significance (Jan 04, 2024) | ||
10-14867207-T-C | not specified | Uncertain significance (Apr 07, 2023) | ||
10-14867212-G-T | not specified | Uncertain significance (Oct 26, 2021) | ||
10-14867225-T-C | not specified | Uncertain significance (May 30, 2024) | ||
10-14867244-G-C | not specified | Uncertain significance (Jun 22, 2021) | ||
10-14867252-A-T | not specified | Uncertain significance (Oct 20, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
HSPA14 | protein_coding | protein_coding | ENST00000378372 | 14 | 33578 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.674 | 0.326 | 125733 | 0 | 15 | 125748 | 0.0000596 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.17 | 212 | 266 | 0.798 | 0.0000131 | 3270 |
Missense in Polyphen | 79 | 122.85 | 0.64304 | 1438 | ||
Synonymous | -0.492 | 105 | 98.8 | 1.06 | 0.00000527 | 1006 |
Loss of Function | 4.05 | 6 | 29.9 | 0.200 | 0.00000174 | 360 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000331 | 0.000331 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000571 | 0.0000544 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.0000461 | 0.0000439 |
Middle Eastern | 0.0000571 | 0.0000544 |
South Asian | 0.0000681 | 0.0000653 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, binds to the nascent polypeptide chain, while DNAJC2 stimulates its ATPase activity. {ECO:0000269|PubMed:16002468}.;
- Pathway
- Parkin-Ubiquitin Proteasomal System pathway;Regulation of HSF1-mediated heat shock response;Cellular responses to stress;Cellular responses to external stimuli;Cellular response to heat stress
(Consensus)
Recessive Scores
- pRec
- 0.131
Intolerance Scores
- loftool
- 0.539
- rvis_EVS
- -0.45
- rvis_percentile_EVS
- 24.19
Haploinsufficiency Scores
- pHI
- 0.347
- hipred
- Y
- hipred_score
- 0.591
- ghis
- 0.658
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.653
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Hspa14
- Phenotype
Gene ontology
- Biological process
- cytoplasmic translation;regulation of translational fidelity;response to unfolded protein;cellular response to heat;cellular response to unfolded protein;protein refolding;'de novo' cotranslational protein folding;chaperone cofactor-dependent protein refolding
- Cellular component
- cytoplasm;cytosol;ribosome;polysome;membrane
- Molecular function
- protein binding;ATP binding;ATPase activity;heat shock protein binding;ATPase activity, coupled;protein folding chaperone;unfolded protein binding;misfolded protein binding