DNAJA4

DnaJ heat shock protein family (Hsp40) member A4, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 15:78264085-78282196

Links

ENSG00000140403 ∙ NCBI:55466 ∙ ∙ HGNC:14885 ∙ Uniprot:Q8WW22 ∙ 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 DNAJA4 gene.

• Inborn genetic diseases (24 variants)
• not specified (1 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJA4 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			24			24
nonsense						0
start loss				1		1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	24	2	0

Variants in DNAJA4

This is a list of pathogenic ClinVar variants found in the DNAJA4 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-78264339-G-C		not specified	Uncertain significance (Jun 11, 2021)
15-78264750-C-T			Likely benign (Jan 01, 2023)
15-78264757-A-G		not specified	Likely benign (Jan 02, 2024)
15-78264821-G-C		not specified	Uncertain significance (Oct 05, 2021)
15-78264847-G-C		not specified	Uncertain significance (May 09, 2022)
15-78264857-A-C		not specified	Uncertain significance (Dec 03, 2021)
15-78264861-A-G		not specified	Uncertain significance (Nov 13, 2023)
15-78264878-C-G		not specified	Uncertain significance (Dec 15, 2021)
15-78266242-CAT-C		not specified	Likely benign (Mar 29, 2016)
15-78270569-G-C		not specified	Uncertain significance (Jun 21, 2021)
15-78270656-C-T		not specified	Uncertain significance (Apr 08, 2022)
15-78273103-G-A		not specified	Uncertain significance (Feb 16, 2023)
15-78273118-T-C		not specified	Uncertain significance (Jul 09, 2021)
15-78273152-C-T		not specified	Uncertain significance (Sep 14, 2022)
15-78274247-C-T		not specified	Uncertain significance (Apr 25, 2022)
15-78274300-C-G		not specified	Uncertain significance (Sep 29, 2023)
15-78274337-C-T		not specified	Uncertain significance (Dec 14, 2021)
15-78274361-G-A		not specified	Uncertain significance (Feb 22, 2023)
15-78274380-A-G		not specified	Uncertain significance (Oct 03, 2022)
15-78274398-A-T		not specified	Uncertain significance (Sep 14, 2022)
15-78275578-G-A		not specified	Uncertain significance (May 31, 2022)
15-78275623-G-T		not specified	Uncertain significance (Aug 19, 2021)
15-78275648-A-C		not specified	Uncertain significance (Nov 10, 2022)
15-78275681-C-T		not specified	Uncertain significance (Mar 11, 2022)
15-78275707-C-G		not specified	Uncertain significance (Nov 22, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJA4	protein_coding	protein_coding	ENST00000394855	8	18111

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00200	0.994	125723	0	25	125748	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.935	200	241	0.830	0.0000135	2804
Missense in Polyphen		38	55.177	0.6887		685
Synonymous	-0.316	96	92.1	1.04	0.00000567	764
Loss of Function	2.52	8	20.2	0.395	0.00000108	255

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000291	0.0000291
Ashkenazi Jewish	0.00	0.00
East Asian	0.000762	0.000761
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000447	0.0000439
Middle Eastern	0.000762	0.000761
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: HSP90 chaperone cycle for steroid hormone receptors (SHR);Cellular responses to stress;Cellular responses to external stimuli (Consensus)

Recessive Scores

• pRec: 0.134

Intolerance Scores

• loftool: 0.815
• rvis_EVS: 0.64
• rvis_percentile_EVS: 83.98

Haploinsufficiency Scores

• pHI: 0.163
• hipred: N
• hipred_score: 0.350
• ghis: 0.436

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.618

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnaja4
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Biological process: response to heat;protein refolding;negative regulation of inclusion body assembly
• Cellular component: cytosol;membrane
• Molecular function: protein binding;ATP binding;heat shock protein binding;metal ion binding;unfolded protein binding;chaperone binding