DNAJC15

DnaJ heat shock protein family (Hsp40) member C15, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 13:43023203-43114213

Previous symbols: [ "DNAJD1" ]

Links

ENSG00000120675 ∙ NCBI:29103 ∙ OMIM:615339 ∙ HGNC:20325 ∙ Uniprot:Q9Y5T4 ∙ 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 DNAJC15 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC15 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			11	2		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	2	0

Variants in DNAJC15

This is a list of pathogenic ClinVar variants found in the DNAJC15 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-43023633-G-A		not specified	Uncertain significance (Jan 16, 2024)
13-43023645-A-G		not specified	Likely benign (Jan 16, 2024)
13-43023655-T-C		not specified	Likely benign (May 18, 2022)
13-43023709-A-G		not specified	Uncertain significance (Oct 25, 2022)
13-43023727-A-T		not specified	Uncertain significance (Oct 02, 2023)
13-43065723-C-G		not specified	Uncertain significance (Nov 29, 2021)
13-43065728-G-A		not specified	Uncertain significance (Jul 27, 2022)
13-43068966-A-G		not specified	Uncertain significance (Aug 10, 2021)
13-43068984-C-T		not specified	Uncertain significance (Aug 17, 2022)
13-43078612-A-T		not specified	Uncertain significance (Dec 08, 2023)
13-43085790-A-G		not specified	Uncertain significance (Oct 12, 2022)
13-43107235-C-T		not specified	Uncertain significance (Sep 25, 2023)
13-43107243-C-T		not specified	Uncertain significance (Jan 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC15	protein_coding	protein_coding	ENST00000379221	6	85707

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.68e-10	0.0171	125689	0	59	125748	0.000235

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.421	91	80.4	1.13	0.00000401	946
Missense in Polyphen		23	22.35	1.0291		276
Synonymous	-1.42	37	27.5	1.34	0.00000139	294
Loss of Function	-1.03	13	9.57	1.36	4.89e-7	112

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000183	0.000183
Ashkenazi Jewish	0.00	0.00
East Asian	0.000493	0.000489
Finnish	0.0000954	0.0000924
European (Non-Finnish)	0.000276	0.000255
Middle Eastern	0.000493	0.000489
South Asian	0.000427	0.000425
Other	0.000367	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Negative regulator of the mitochondrial respiratory chain. Prevents mitochondrial hyperpolarization state and restricts mitochondrial generation of ATP (By similarity). Acts as an import component of the TIM23 translocase complex. Stimulates the ATPase activity of HSPA9. {ECO:0000250, ECO:0000269|PubMed:23263864}.
• Pathway: Glucocorticoid Receptor Pathway;Nuclear Receptors Meta-Pathway (Consensus)

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.815
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.56

Haploinsufficiency Scores

• pHI: 0.0612
• hipred: N
• hipred_score: 0.177
• ghis: 0.455

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0384

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc15
• Phenotype: hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; immune system phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: cellular response to starvation;regulation of lipid metabolic process;protein import into mitochondrial matrix;negative regulation of protein complex assembly;positive regulation of ATPase activity;negative regulation of mitochondrial electron transport, NADH to ubiquinone
• Cellular component: PAM complex, Tim23 associated import motor;integral component of membrane
• Molecular function: ATPase activator activity;protein binding;protein transporter activity