DNAJC1

DnaJ heat shock protein family (Hsp40) member C1, the group of Myb/SANT domain containing|DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 10:21756547-22003769

Links

ENSG00000136770 ∙ NCBI:64215 ∙ OMIM:611207 ∙ HGNC:20090 ∙ Uniprot:Q96KC8 ∙ 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 DNAJC1 gene.

• Inborn genetic diseases (24 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC1 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			23	1		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	2	0

Variants in DNAJC1

This is a list of pathogenic ClinVar variants found in the DNAJC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-21756692-T-C		not specified	Uncertain significance (May 17, 2023)
10-21759279-G-A		not specified	Uncertain significance (Jan 04, 2022)
10-21759294-C-T		not specified	Uncertain significance (Aug 10, 2023)
10-21759414-A-G		not specified	Likely benign (Apr 21, 2022)
10-21759432-C-T		not specified	Uncertain significance (Apr 07, 2022)
10-21759444-C-T		not specified	Uncertain significance (Jul 12, 2022)
10-21759462-G-A		not specified	Uncertain significance (Jan 17, 2023)
10-21759478-A-C		not specified	Uncertain significance (Nov 18, 2022)
10-21759511-C-A		not specified	Uncertain significance (Dec 20, 2023)
10-21759516-G-C		not specified	Uncertain significance (Jun 22, 2023)
10-21806085-T-C			Likely benign (Oct 01, 2022)
10-21806093-C-T		not specified	Uncertain significance (Aug 17, 2022)
10-21882295-G-A		not specified	Uncertain significance (Jun 24, 2022)
10-21882298-C-T		not specified	Uncertain significance (Oct 24, 2023)
10-21882361-T-G		not specified	Uncertain significance (Dec 07, 2023)
10-21904534-C-G		not specified	Uncertain significance (Sep 22, 2023)
10-21904567-C-G		not specified	Uncertain significance (Feb 22, 2023)
10-21918788-G-C		not specified	Uncertain significance (Jan 17, 2023)
10-21918863-C-T		not specified	Uncertain significance (Feb 11, 2022)
10-21919908-T-G		not specified	Uncertain significance (Feb 13, 2023)
10-21920821-A-C		not specified	Uncertain significance (Mar 20, 2023)
10-21929044-C-G		not specified	Uncertain significance (Sep 29, 2023)
10-21929053-G-A		not specified	Uncertain significance (Feb 15, 2023)
10-21929132-A-C		not specified	Uncertain significance (Jul 22, 2022)
10-22003246-C-G		not specified	Uncertain significance (Jan 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC1	protein_coding	protein_coding	ENST00000376980	12	247233

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.33e-8	0.988	125678	0	70	125748	0.000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.511	258	282	0.914	0.0000154	3554
Missense in Polyphen		97	112.73	0.86046		1401
Synonymous	1.13	98	113	0.865	0.00000657	1074
Loss of Function	2.35	18	32.5	0.555	0.00000178	383

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000508	0.000508
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.0000480	0.0000462
European (Non-Finnish)	0.000358	0.000352
Middle Eastern	0.000381	0.000381
South Asian	0.000202	0.000196
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May modulate protein synthesis. {ECO:0000250}.
• Pathway: Protein processing in endoplasmic reticulum - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0958

Intolerance Scores

• loftool: 0.916
• rvis_EVS: -0.56
• rvis_percentile_EVS: 19.54

Haploinsufficiency Scores

• pHI: 0.124
• hipred: N
• hipred_score: 0.250
• ghis: 0.540

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.717

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc1

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;regulation of translation;protein folding;positive regulation of ATPase activity;negative regulation of proteolysis;regulation of protein secretion
• Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane;plasma membrane;membrane;integral component of membrane;nuclear membrane
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;ATPase activator activity;DNA binding;protein binding;chaperone binding