DNAJC25

DnaJ heat shock protein family (Hsp40) member C25, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 9:111631333-111654351

Links

ENSG00000059769 ∙ NCBI:548645 ∙ ∙ HGNC:34187 ∙ Uniprot:Q9H1X3 ∙ 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 DNAJC25 gene.

• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC25 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						0
missense			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in DNAJC25

This is a list of pathogenic ClinVar variants found in the DNAJC25 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-111649756-C-T		not specified	Uncertain significance (Oct 29, 2021)
9-111649850-A-G		not specified	Uncertain significance (Sep 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC25	protein_coding	protein_coding	ENST00000313525	4	38877

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000121	0.837	124784	0	14	124798	0.0000561

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.933	126	159	0.792	0.00000821	2307
Missense in Polyphen		51	57.855	0.88151		757
Synonymous	-0.510	62	57.1	1.09	0.00000271	666
Loss of Function	1.36	10	15.8	0.631	8.57e-7	214

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000230	0.000230
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.0000445	0.0000441
Middle Eastern	0.0000556	0.0000556
South Asian	0.000104	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.103

Haploinsufficiency Scores

• pHI: 0.224
• hipred: N
• hipred_score: 0.131
• ghis: 0.525

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.203

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc25

Gene ontology

• Biological process: protein folding
• Cellular component: endoplasmic reticulum membrane;integral component of membrane