DNAJB7

DnaJ heat shock protein family (Hsp40) member B7, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 22:40859548-40862113

Links

ENSG00000172404 ∙ NCBI:150353 ∙ OMIM:611336 ∙ HGNC:24986 ∙ Uniprot:Q7Z6W7 ∙ 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 DNAJB7 gene.

• Inborn genetic diseases (22 variants)
• Kidney disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJB7 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			22			22
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	0	1

Variants in DNAJB7

This is a list of pathogenic ClinVar variants found in the DNAJB7 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-40861069-C-G		not specified	Uncertain significance (Jan 03, 2024)
22-40861075-C-T		not specified	Uncertain significance (Oct 03, 2022)
22-40861105-C-T		not specified	Likely benign (Dec 17, 2023)
22-40861118-T-C		not specified	Uncertain significance (Jun 22, 2023)
22-40861126-C-T		not specified	Uncertain significance (Sep 21, 2023)
22-40861154-T-C		not specified	Uncertain significance (Oct 06, 2022)
22-40861189-C-T		not specified	Uncertain significance (Oct 20, 2023)
22-40861307-C-T		not specified	Uncertain significance (Mar 01, 2024)
22-40861334-A-C		not specified	Uncertain significance (Mar 01, 2024)
22-40861395-A-T		not specified	Uncertain significance (Jan 06, 2023)
22-40861439-A-G		not specified	Uncertain significance (Mar 04, 2024)
22-40861453-A-G		not specified	Uncertain significance (Oct 06, 2022)
22-40861499-C-T		not specified	Uncertain significance (Mar 14, 2023)
22-40861505-C-G		not specified	Uncertain significance (Apr 05, 2023)
22-40861553-C-G		not specified	Uncertain significance (Jun 28, 2022)
22-40861585-A-C		not specified	Uncertain significance (Jan 02, 2024)
22-40861627-G-A		not specified	Uncertain significance (Mar 14, 2023)
22-40861630-C-T		not specified	Likely benign (Oct 02, 2023)
22-40861687-T-G		not specified	Uncertain significance (Dec 21, 2023)
22-40861698-T-G		not specified	Uncertain significance (Dec 13, 2022)
22-40861712-C-A		not specified	Uncertain significance (Jan 26, 2022)
22-40861720-T-G		not specified	Uncertain significance (Sep 25, 2023)
22-40861745-A-G		not specified	Uncertain significance (Dec 06, 2021)
22-40861749-A-C		not specified	Uncertain significance (May 08, 2023)
22-40861798-T-C		not specified	Uncertain significance (Nov 30, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJB7	protein_coding	protein_coding	ENST00000307221	1	2578

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.59e-9	0.0463	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.764	187	160	1.17	0.00000773	2055
Missense in Polyphen		43	27.621	1.5568		379
Synonymous	0.195	57	58.9	0.968	0.00000299	550
Loss of Function	-0.755	11	8.61	1.28	3.57e-7	138

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probably acts as a co-chaperone. {ECO:0000250}.

Recessive Scores

• pRec: 0.177

Intolerance Scores

• loftool: 0.730
• rvis_EVS: 0.69
• rvis_percentile_EVS: 85.1

Haploinsufficiency Scores

• pHI: 0.126
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.329

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajb7
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Molecular function: chaperone binding