DNAJC5B

DnaJ heat shock protein family (Hsp40) member C5 beta, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 8:66021553-66101245

Links

ENSG00000147570 ∙ NCBI:85479 ∙ OMIM:613945 ∙ HGNC:24138 ∙ Uniprot:Q9UF47 ∙ 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 DNAJC5B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC5B 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			5	1		6
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	1	0

Variants in DNAJC5B

This is a list of pathogenic ClinVar variants found in the DNAJC5B region.

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

Position	Type	Phenotype	Significance	ClinVar
8-66051603-C-T		not specified	Uncertain significance (Aug 12, 2024)
8-66076800-G-T		not specified	Uncertain significance (Dec 04, 2023)
8-66076802-C-G		not specified	Uncertain significance (Nov 22, 2023)
8-66080396-G-T		not specified	Uncertain significance (Feb 05, 2024)
8-66080470-G-T		not specified	Uncertain significance (Oct 16, 2015)
8-66080498-A-G		not specified	Uncertain significance (Apr 19, 2023)
8-66080532-G-T		not specified	Uncertain significance (Dec 14, 2022)
8-66080533-T-A		not specified	Likely benign (Feb 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC5B	protein_coding	protein_coding	ENST00000276570	4	78957

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000229	0.297	125614	0	133	125747	0.000529

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.266	102	110	0.929	0.00000613	1296
Missense in Polyphen		28	30.971	0.90407		369
Synonymous	0.0570	45	45.5	0.989	0.00000323	367
Loss of Function	0.227	9	9.76	0.922	4.14e-7	126

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00151	0.00151
Ashkenazi Jewish	0.00	0.00
East Asian	0.000171	0.000163
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.000612	0.000607
Middle Eastern	0.000171	0.000163
South Asian	0.0000654	0.0000653
Other	0.00131	0.00130

dbNSFP

Source: dbNSFP

• Pathway: Protein processing in endoplasmic reticulum - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.676
• rvis_EVS: 0.08
• rvis_percentile_EVS: 60.09

Haploinsufficiency Scores

• pHI: 0.143
• hipred: Y
• hipred_score: 0.732
• ghis: 0.400

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.705

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc5b
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); limbs/digits/tail phenotype; vision/eye phenotype; skeleton phenotype

Gene ontology

• Cellular component: membrane
• Molecular function: protein binding