DNAJC8

DnaJ heat shock protein family (Hsp40) member C8, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 1:28199456-28233029

Links

ENSG00000126698 ∙ NCBI:22826 ∙ ∙ HGNC:15470 ∙ Uniprot:O75937 ∙ 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 DNAJC8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC8 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in DNAJC8

This is a list of pathogenic ClinVar variants found in the DNAJC8 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-28201321-G-C		not specified	Uncertain significance (Nov 06, 2023)
1-28201357-C-T		not specified	Uncertain significance (Oct 08, 2024)
1-28205284-C-G		not specified	Uncertain significance (Nov 14, 2023)
1-28205340-C-T		not specified	Uncertain significance (Feb 22, 2025)
1-28208375-T-G		not specified	Uncertain significance (Jul 25, 2024)
1-28210592-T-C		not specified	Uncertain significance (Feb 27, 2025)
1-28210597-G-A		not specified	Uncertain significance (Sep 20, 2023)
1-28214978-C-T		not specified	Uncertain significance (Feb 05, 2025)
1-28228938-T-C		not specified	Uncertain significance (Jan 20, 2023)
1-28228957-G-C		not specified	Uncertain significance (Aug 19, 2024)
1-28232952-G-A		not specified	Uncertain significance (Mar 27, 2023)
1-28232956-T-C		not specified	Uncertain significance (Mar 07, 2025)
1-28232967-C-T		not specified	Uncertain significance (Feb 21, 2024)
1-28232970-G-A		not specified	Uncertain significance (Feb 24, 2025)
1-28232974-T-A		not specified	Uncertain significance (May 30, 2023)
1-28232977-C-G		not specified	Uncertain significance (Dec 15, 2023)
1-28232978-G-T		not specified	Uncertain significance (Oct 05, 2023)
1-28232985-C-G		not specified	Uncertain significance (Dec 17, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC8	protein_coding	protein_coding	ENST00000263697	9	33570

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0510	0.948	124795	0	12	124807	0.0000481

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.56	86	137	0.626	0.00000753	1673
Missense in Polyphen		8	18.738	0.42695		286
Synonymous	0.527	41	45.5	0.901	0.00000235	424
Loss of Function	2.93	6	20.2	0.297	0.00000118	219

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000158	0.000158
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.0000620	0.0000618
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Suppresses polyglutamine (polyQ) aggregation of ATXN3 in neuronal cells (PubMed:27133716). {ECO:0000269|PubMed:27133716}.
• Pathway: mRNA Processing;Metabolism of RNA;mRNA Splicing - Major Pathway;mRNA Splicing;Processing of Capped Intron-Containing Pre-mRNA (Consensus)

Recessive Scores

• pRec: 0.116

Intolerance Scores

• loftool: 0.572
• rvis_EVS: -0.05
• rvis_percentile_EVS: 49.39

Haploinsufficiency Scores

• pHI: 0.114
• hipred: Y
• hipred_score: 0.775
• ghis: 0.657

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.965

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc8
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); homeostasis/metabolism phenotype

Gene ontology

• Biological process: mRNA splicing, via spliceosome
• Cellular component: nucleus;nucleoplasm;cytosol;intercellular bridge
• Molecular function: Hsp70 protein binding