DNAJB5

DnaJ heat shock protein family (Hsp40) member B5, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 9:34989641-34998900

Links

ENSG00000137094 ∙ NCBI:25822 ∙ OMIM:611328 ∙ HGNC:14887 ∙ Uniprot:O75953 ∙ 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 DNAJB5 gene.

• not_specified (25 variants)
• not_provided (14 variants)
• Peripheral_neuropathy (1 variants)
• Skeletal_myopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJB5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001349723.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	2		3
missense		1	26	2		29
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	27	4	0

Highest pathogenic variant AF is 0.0001295452

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJB5	protein_coding	protein_coding	ENST00000453597	5	9260

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.206	0.792	125746	0	2	125748	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.15	113	254	0.444	0.0000161	3003
Missense in Polyphen		22	86.717	0.2537		1024
Synonymous	1.32	83	99.7	0.832	0.00000602	976
Loss of Function	2.72	4	15.6	0.257	0.00000111	174

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000880	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.129

Intolerance Scores

• loftool: 0.287
• rvis_EVS: -0.43
• rvis_percentile_EVS: 25.15

Haploinsufficiency Scores

• pHI: 0.758
• hipred: Y
• hipred_score: 0.691
• ghis: 0.598

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.911

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajb5

Zebrafish Information Network

• Gene name: dnajb5
• Affected structure: peripheral neuron
• Phenotype tag: abnormal
• Phenotype quality: shape

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;response to unfolded protein;chaperone cofactor-dependent protein refolding
• Cellular component: nucleus;cytosol
• Molecular function: protein binding;unfolded protein binding;chaperone binding