DNAJB8

DnaJ heat shock protein family (Hsp40) member B8, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 3:128462436-128466968

Links

ENSG00000179407 ∙ NCBI:165721 ∙ OMIM:611337 ∙ HGNC:23699 ∙ Uniprot:Q8NHS0 ∙ 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 DNAJB8 gene.

• Inborn genetic diseases (10 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJB8 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					1	1
missense			10		2	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	10	0	3

Variants in DNAJB8

This is a list of pathogenic ClinVar variants found in the DNAJB8 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-128462564-A-G		not specified	Likely benign (Jan 02, 2024)
3-128462588-C-T		not specified	Uncertain significance (Dec 26, 2023)
3-128462629-C-T		not specified	Uncertain significance (Sep 01, 2021)
3-128462660-T-C		not specified	Uncertain significance (Oct 26, 2021)
3-128462738-C-T		not specified	Uncertain significance (Oct 26, 2021)
3-128462755-A-C		not specified	Uncertain significance (Sep 22, 2023)
3-128462789-T-G			Benign (Apr 10, 2018)
3-128462818-G-C		not specified	Uncertain significance (Oct 20, 2023)
3-128462888-T-G		not specified	Uncertain significance (Nov 07, 2022)
3-128462903-A-G		not specified	Uncertain significance (Jun 24, 2022)
3-128462944-C-T			Benign (Jun 18, 2018)
3-128462966-G-A		not specified	Uncertain significance (Aug 04, 2021)
3-128462984-C-T		not specified	Uncertain significance (Oct 26, 2021)
3-128463025-C-T		not specified	Uncertain significance (Sep 17, 2021)
3-128463044-C-T		not specified	Uncertain significance (Dec 17, 2021)
3-128463070-G-T		not specified	Uncertain significance (Oct 03, 2023)
3-128463074-C-T		not specified	Uncertain significance (Feb 27, 2023)
3-128463103-A-G		not specified	Uncertain significance (Nov 06, 2023)
3-128463134-T-G		not specified	Uncertain significance (Oct 10, 2023)
3-128463228-T-C			Benign (Jun 18, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJB8	protein_coding	protein_coding	ENST00000469083	1	4810

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0952	0.780	125742	0	3	125745	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.517	175	157	1.12	0.0000104	1535
Missense in Polyphen		52	52.321	0.99387		515
Synonymous	-0.285	67	64.1	1.05	0.00000447	450
Loss of Function	1.17	2	4.75	0.421	2.02e-7	62

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Efficient suppressor of aggregation and toxicity of disease-associated polyglutamine proteins. {ECO:0000269|PubMed:20159555}.

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.340
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.88

Haploinsufficiency Scores

• pHI: 0.129
• hipred: N
• hipred_score: 0.296
• ghis: 0.513

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.780

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajb8

Gene ontology

• Biological process: chaperone-mediated protein folding;negative regulation of inclusion body assembly
• Cellular component: nucleus;cytosol
• Molecular function: protein folding chaperone;unfolded protein binding;chaperone binding