HSPBP1
Basic information
Region (hg38): 19:55262222-55280381
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 HSPBP1 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 | 4 | |||||
missense | 24 | 25 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 0 | |||||
Total | 0 | 0 | 24 | 4 | 2 |
Variants in HSPBP1
This is a list of pathogenic ClinVar variants found in the HSPBP1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-55262626-G-C | not specified | Uncertain significance (Feb 27, 2023) | ||
19-55265309-C-A | not specified | Uncertain significance (May 23, 2024) | ||
19-55265312-C-T | not specified | Uncertain significance (May 07, 2024) | ||
19-55265345-G-A | not specified | Uncertain significance (Mar 28, 2024) | ||
19-55265385-C-A | Likely benign (Jun 08, 2018) | |||
19-55265934-C-T | not specified | Uncertain significance (Jun 05, 2024) | ||
19-55265956-G-C | not specified | Uncertain significance (May 22, 2023) | ||
19-55265971-A-T | not specified | Uncertain significance (Apr 25, 2023) | ||
19-55266200-C-G | not specified | Uncertain significance (Nov 12, 2021) | ||
19-55266248-G-A | not specified | Uncertain significance (Dec 28, 2022) | ||
19-55266259-A-G | not specified | Uncertain significance (Oct 10, 2023) | ||
19-55274407-C-A | not specified | Uncertain significance (May 26, 2022) | ||
19-55274416-C-T | not specified | Uncertain significance (May 25, 2022) | ||
19-55274422-C-T | not specified | Uncertain significance (Jun 21, 2021) | ||
19-55274424-C-T | not specified | Uncertain significance (May 20, 2024) | ||
19-55274425-G-A | not specified | Uncertain significance (Dec 21, 2022) | ||
19-55274444-G-A | Likely benign (Jul 20, 2018) | |||
19-55274469-C-T | not specified | Uncertain significance (May 04, 2023) | ||
19-55274470-G-T | not specified | Uncertain significance (Mar 15, 2024) | ||
19-55274512-C-T | not specified | Uncertain significance (Mar 06, 2023) | ||
19-55274526-G-A | not specified | Uncertain significance (Feb 23, 2023) | ||
19-55274563-C-T | not specified | Uncertain significance (Oct 25, 2023) | ||
19-55274583-C-T | not specified | Uncertain significance (Mar 24, 2023) | ||
19-55274594-C-T | Likely benign (Dec 20, 2017) | |||
19-55277693-C-G | not specified | Uncertain significance (Dec 02, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
HSPBP1 | protein_coding | protein_coding | ENST00000255631 | 7 | 18151 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0572 | 0.939 | 125695 | 0 | 27 | 125722 | 0.000107 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.04 | 182 | 226 | 0.805 | 0.0000142 | 2250 |
Missense in Polyphen | 54 | 66.364 | 0.81369 | 635 | ||
Synonymous | 0.135 | 100 | 102 | 0.983 | 0.00000647 | 757 |
Loss of Function | 2.57 | 5 | 16.1 | 0.310 | 8.35e-7 | 169 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000289 | 0.000274 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000182 | 0.000167 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000328 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Inhibits HSPA1A chaperone activity by changing the conformation of the ATP-binding domain of HSPA1A and interfering with ATP binding. Interferes with ubiquitination mediated by STUB1 and inhibits chaperone-assisted degradation of immature CFTR. {ECO:0000269|PubMed:10786638, ECO:0000269|PubMed:12651857, ECO:0000269|PubMed:15215316, ECO:0000269|PubMed:9830037}.;
- Pathway
- Protein processing in endoplasmic reticulum - Homo sapiens (human)
(Consensus)
Recessive Scores
- pRec
- 0.131
Intolerance Scores
- loftool
- 0.649
- rvis_EVS
- -0.18
- rvis_percentile_EVS
- 40.16
Haploinsufficiency Scores
- pHI
- hipred
- Y
- hipred_score
- 0.553
- ghis
- 0.530
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.801
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Hspbp1
- Phenotype
- cellular phenotype; endocrine/exocrine gland phenotype; reproductive system phenotype;
Gene ontology
- Biological process
- protein folding;positive regulation of protein ubiquitination;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;negative regulation of catalytic activity
- Cellular component
- cytoplasm;endoplasmic reticulum
- Molecular function
- adenyl-nucleotide exchange factor activity;enzyme inhibitor activity;protein binding;ubiquitin protein ligase binding