DNAJC22

DnaJ heat shock protein family (Hsp40) member C22, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 12:49346887-49357546

Links

ENSG00000178401 ∙ NCBI:79962 ∙ ∙ HGNC:25802 ∙ Uniprot:Q8N4W6 ∙ 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 DNAJC22 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC22 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			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	2	0

Variants in DNAJC22

This is a list of pathogenic ClinVar variants found in the DNAJC22 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-49348882-G-T		not specified	Uncertain significance (Jan 16, 2024)
12-49348919-G-A		not specified	Uncertain significance (Mar 01, 2024)
12-49348987-G-C		not specified	Uncertain significance (Oct 12, 2022)
12-49349023-A-G		not specified	Uncertain significance (Oct 14, 2023)
12-49349101-A-G		not specified	Uncertain significance (Mar 16, 2024)
12-49349110-C-T		not specified	Uncertain significance (Apr 15, 2024)
12-49349135-G-A		not specified	Uncertain significance (Dec 14, 2021)
12-49349178-G-T		not specified	Uncertain significance (Apr 25, 2022)
12-49349262-C-A		not specified	Uncertain significance (Jan 30, 2024)
12-49349266-A-G		not specified	Uncertain significance (Aug 13, 2021)
12-49349285-C-T		not specified	Uncertain significance (Nov 28, 2023)
12-49349314-C-T		not specified	Uncertain significance (Mar 29, 2024)
12-49349315-G-T		not specified	Uncertain significance (Nov 12, 2021)
12-49349375-G-A		not specified	Uncertain significance (Mar 30, 2024)
12-49349383-G-C		not specified	Uncertain significance (Aug 31, 2022)
12-49349422-C-T		not specified	Uncertain significance (Apr 28, 2022)
12-49349489-C-T		not specified	Uncertain significance (Nov 10, 2023)
12-49349504-T-C		not specified	Uncertain significance (Mar 07, 2024)
12-49349505-G-T			Likely benign (Mar 01, 2024)
12-49349516-T-C		not specified	Uncertain significance (Feb 12, 2024)
12-49349560-C-T		not specified	Uncertain significance (Dec 01, 2022)
12-49349623-G-A		not specified	Uncertain significance (Nov 28, 2023)
12-49349646-G-T		not specified	Uncertain significance (Jan 24, 2023)
12-49349653-G-A		not specified	Uncertain significance (Feb 01, 2023)
12-49349696-G-A		not specified	Uncertain significance (May 25, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC22	protein_coding	protein_coding	ENST00000549441	2	10610

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000290	0.333	125723	0	25	125748	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.137	197	192	1.03	0.0000103	2190
Missense in Polyphen		46	49.474	0.92977		667
Synonymous	0.264	73	75.9	0.961	0.00000378	735
Loss of Function	0.316	9	10.1	0.893	4.29e-7	114

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000239	0.000239
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000118	0.000114
Middle Eastern	0.0000544	0.0000544
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as a co-chaperone.

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.695
• rvis_EVS: -0.38
• rvis_percentile_EVS: 27.69

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.167
• ghis: 0.580

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.136

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc22

Gene ontology

• Cellular component: integral component of membrane