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): 10:21756548-22003769

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.

• not_specified (66 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. These statistics are base on transcript: NM_000022365.4. 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				2		2
missense			61	4		65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	61	6	0

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