DNAJC4

DnaJ heat shock protein family (Hsp40) member C4, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 11:64230278-64234286

Previous symbols: [ "HSPF2" ]

Links

ENSG00000110011 ∙ NCBI:3338 ∙ OMIM:604189 ∙ HGNC:5271 ∙ Uniprot:Q9NNZ3 ∙ 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 DNAJC4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC4 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			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	0

Variants in DNAJC4

This is a list of pathogenic ClinVar variants found in the DNAJC4 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-64230909-T-C		not specified	Uncertain significance (Jul 06, 2021)
11-64231902-G-T		not specified	Uncertain significance (May 08, 2023)
11-64231924-C-G		not specified	Uncertain significance (May 07, 2024)
11-64232473-G-A		not specified	Uncertain significance (Sep 14, 2022)
11-64232478-G-T		not specified	Uncertain significance (Dec 16, 2022)
11-64232514-G-A		not specified	Uncertain significance (Mar 20, 2023)
11-64232515-A-G		not specified	Uncertain significance (Sep 27, 2021)
11-64232524-G-A		not specified	Uncertain significance (Feb 28, 2024)
11-64232527-G-A		not specified	Uncertain significance (Feb 06, 2023)
11-64232548-G-A		not specified	Uncertain significance (Apr 13, 2023)
11-64232730-A-T		not specified	Uncertain significance (Dec 19, 2023)
11-64232760-A-G		not specified	Uncertain significance (Sep 09, 2024)
11-64233923-T-C		not specified	Uncertain significance (Jul 05, 2024)
11-64233965-C-A		not specified	Uncertain significance (Jul 14, 2021)
11-64233967-C-T		not specified	Uncertain significance (Feb 28, 2023)
11-64233974-G-C		not specified	Uncertain significance (Dec 30, 2023)
11-64234101-C-G		not specified	Uncertain significance (Jul 14, 2021)
11-64234102-G-A		not specified	Likely benign (May 13, 2024)
11-64234111-T-C		not specified	Uncertain significance (Jan 24, 2023)
11-64234150-G-A		not specified	Uncertain significance (Dec 07, 2024)
11-64234167-C-T		not specified	Uncertain significance (Dec 19, 2022)
11-64234168-G-A		not specified	Uncertain significance (Oct 27, 2023)
11-64234177-G-A		not specified	Uncertain significance (Dec 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC4	protein_coding	protein_coding	ENST00000321685	6	4009

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.81e-10	0.0343	124729	0	102	124831	0.000409

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.129	149	145	1.03	0.00000814	1530
Missense in Polyphen		58	46.775	1.24		527
Synonymous	0.208	55	57.0	0.965	0.00000291	492
Loss of Function	-0.442	14	12.3	1.14	7.22e-7	120

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00114	0.00111
Ashkenazi Jewish	0.00	0.00
East Asian	0.000890	0.000890
Finnish	0.00	0.00
European (Non-Finnish)	0.000346	0.000344
Middle Eastern	0.000890	0.000890
South Asian	0.000361	0.000360
Other	0.000828	0.000825

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0765

Intolerance Scores

• loftool: 0.727
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.53

Haploinsufficiency Scores

• pHI: 0.0743
• hipred: N
• hipred_score: 0.123
• ghis: 0.494

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.550

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc4

Gene ontology

• Biological process: protein folding;response to unfolded protein
• Cellular component: membrane;integral component of membrane
• Molecular function: protein binding;unfolded protein binding