CDC37L1

protein-coding

cell division cycle 37 like 1, HSP90 cochaperone

Gene summary

CDC37L1 is a cytoplasmic phosphoprotein that exists in complex with HSP90 (HSPCA; MIM 140571) as well as several other proteins involved in HSP90-mediated protein folding (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM, Mar 2008]

MANE transcript

NM_017913.4

Inheritance

—

ClinVar variants

U:45B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.1

Max pathogenic AF

—

Genomic locus

chr9:4,679,559-4,708,399

External References & Databases

Ensembl (ENSG00000106993)

Transcript & Mutation Effects

hg38 • Region Span ~28.8 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CDC37L1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 44

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_017913.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar		2
missense			42 clinvar	2 clinvar		44
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	45	3	0	48

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 26 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_017913.4	RefSeq	NP_060383.2	7	MANE Select
ENST00000381854.4	Ensembl	ENSP00000371278.3	7	MANE Select
ENST00000381858.5	Ensembl	ENSP00000371282.1	7	Standard
ENST00000381858.6	Ensembl	ENSP00000371282.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Platelet degranulation
Response to elevated platelet cytosolic Ca2+
Platelet activation, signaling and aggregation
Hemostasis

Biological Process

platelet degranulation
protein folding
protein stabilization

Molecular Function

protein binding
heat shock protein binding
unfolded protein binding
chaperone binding

Cellular Component

extracellular region
cytoplasm
cytosol
platelet dense granule lumen

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000381854
Coding exons: 7
Length: 28840
Individuals with no LoFs: 125738
Homozygous LoFs: 0
Heterozygous LoFs: 5
Defined: 125743
p: 0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.140	176	171	1.03	0.00000805	2248
Missense (PolyPhen)		40	61.503	0.65037		832
Synonymous	-0.501	63	58.1	1.08	0.00000271	567
Loss of Function	3.65	2	19.3	0.103	9.71e-7	236

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00014	0.00012	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Co-chaperone that binds to numerous proteins and promotes their interaction with Hsp70 and Hsp90. {ECO:0000250}.;

Recessive Scores

pRec: 0.113

Intolerance Scores

LoFtool: 0.284
RVIS EVS: -0.34
RVIS percentile EVS: 30.07

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.142

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium