CDC37

cell division cycle 37, HSP90 cochaperone, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 19:10391090-10420121

Links

ENSG00000105401 ∙ NCBI:11140 ∙ OMIM:605065 ∙ HGNC:1735 ∙ Uniprot:Q16543 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CDC37 gene.

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.

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					2	2
missense			13		1	14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	3

Variants in CDC37

This is a list of pathogenic ClinVar variants found in the CDC37 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-10391565-C-T		not specified	Uncertain significance (Nov 09, 2024)
19-10391591-G-A		not specified	Uncertain significance (Jun 16, 2023)
19-10391642-C-T		not specified	Uncertain significance (Jun 01, 2023)
19-10393139-C-A		not specified	Uncertain significance (Jun 07, 2023)
19-10393271-C-T			Benign (Jun 04, 2018)
19-10393282-C-T		not specified	Uncertain significance (Aug 14, 2024)
19-10393285-C-T			Benign (Jul 31, 2018)
19-10393320-C-T		not specified	Uncertain significance (Jan 23, 2024)
19-10393326-T-G		not specified	Uncertain significance (Sep 25, 2024)
19-10393335-T-C		not specified	Uncertain significance (Apr 06, 2024)
19-10393372-G-A		not specified	Uncertain significance (Mar 13, 2023)
19-10393378-G-A		not specified	Uncertain significance (Mar 25, 2024)
19-10395107-T-C		not specified	Uncertain significance (May 15, 2023)
19-10395278-C-T		not specified	Uncertain significance (Aug 21, 2024)
19-10395335-G-A		not specified	Uncertain significance (Mar 08, 2024)
19-10395469-G-A			Benign (Jul 31, 2018)
19-10395528-T-G		not specified	Uncertain significance (Aug 05, 2024)
19-10396028-T-C		not specified	Uncertain significance (Oct 12, 2021)
19-10396031-C-A		not specified	Uncertain significance (Nov 17, 2022)
19-10396031-C-T		not specified	Uncertain significance (Dec 16, 2023)
19-10396049-G-A		not specified	Uncertain significance (Jan 26, 2023)
19-10396138-C-G		not specified	Uncertain significance (Dec 07, 2021)
19-10403419-G-A		not specified	Uncertain significance (Apr 28, 2022)
19-10403447-C-G		not specified	Uncertain significance (Oct 25, 2024)
19-10417700-T-A			Uncertain significance (-)

GnomAD

Source: gnomAD

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: dbNSFP

• 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

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