CDC37
Basic information
Region (hg38): 19:10391090-10420121
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (35 variants)
- not_provided (3 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDC37 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007065.4. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | |||||
| missense | 35 | 36 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 35 | 0 | 3 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CDC37 | protein_coding | protein_coding | ENST00000222005 | 8 | 28988 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.909 | 0.0907 | 125713 | 0 | 15 | 125728 | 0.0000597 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.68 | 175 | 250 | 0.701 | 0.0000166 | 2531 |
| Missense in Polyphen | 39 | 82.888 | 0.47051 | 867 | ||
| Synonymous | 0.566 | 92 | 99.2 | 0.928 | 0.00000713 | 656 |
| Loss of Function | 3.63 | 3 | 20.9 | 0.143 | 0.00000100 | 232 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000908 | 0.0000905 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.000488 | 0.000462 |
| European (Non-Finnish) | 0.0000267 | 0.0000264 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Co-chaperone that binds to numerous kinases and promotes their interaction with the Hsp90 complex, resulting in stabilization and promotion of their activity (PubMed:8666233). Inhibits HSP90AA1 ATPase activity (PubMed:23569206). {ECO:0000269|PubMed:23569206, ECO:0000269|PubMed:8666233}.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);TNF alpha Signaling Pathway;Aryl Hydrocarbon Receptor;Aryl Hydrocarbon Receptor Pathway;Nuclear Receptors Meta-Pathway;Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;PI3K-Akt Signaling Pathway;Disease;Signal Transduction;AndrogenReceptor;Downregulation of ERBB2 signaling;Signaling by EGFRvIII in Cancer;Signaling by EGFR in Cancer;Signaling by ERBB2;TNFalpha;Integrin-linked kinase signaling;Constitutive Signaling by EGFRvIII;Signaling by Receptor Tyrosine Kinases;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Signaling by Ligand-Responsive EGFR Variants in Cancer;Diseases of signal transduction;LKB1 signaling events
(Consensus)
Recessive Scores
- pRec
- 0.221
Intolerance Scores
- loftool
- 0.302
- rvis_EVS
- -0.34
- rvis_percentile_EVS
- 30.56
Haploinsufficiency Scores
- pHI
- 0.289
- hipred
- Y
- hipred_score
- 0.806
- ghis
- 0.566
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.933
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cdc37
- Phenotype
Zebrafish Information Network
- Gene name
- cdc37
- Affected structure
- trunk
- Phenotype tag
- abnormal
- Phenotype quality
- necrotic
Gene ontology
- Biological process
- regulation of cyclin-dependent protein serine/threonine kinase activity;protein folding;protein targeting;posttranscriptional regulation of gene expression;peptidyl-tyrosine phosphorylation;ERBB2 signaling pathway;protein stabilization;regulation of interferon-gamma-mediated signaling pathway;regulation of type I interferon-mediated signaling pathway;positive regulation of mitophagy in response to mitochondrial depolarization
- Cellular component
- cytoplasm;cytosol;extracellular exosome;chaperone complex;HSP90-CDC37 chaperone complex
- Molecular function
- protein tyrosine kinase activity;protein binding;protein kinase regulator activity;kinase binding;protein kinase binding;heat shock protein binding;unfolded protein binding;chaperone binding;Hsp90 protein binding;scaffold protein binding