DNAJC18

DnaJ heat shock protein family (Hsp40) member C18, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 5:139408588-139444491

Links

ENSG00000170464 ∙ NCBI:202052 ∙ ∙ HGNC:28429 ∙ Uniprot:Q9H819 ∙ 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 DNAJC18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC18 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			16	1		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	1	0

Variants in DNAJC18

This is a list of pathogenic ClinVar variants found in the DNAJC18 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-139414161-C-T		not specified	Uncertain significance (Aug 08, 2022)
5-139414170-A-G		not specified	Uncertain significance (Feb 01, 2023)
5-139420112-G-C		not specified	Uncertain significance (May 01, 2022)
5-139420146-A-G		not specified	Uncertain significance (May 16, 2022)
5-139420188-G-T		not specified	Uncertain significance (Aug 12, 2022)
5-139425045-C-T		not specified	Uncertain significance (Nov 30, 2022)
5-139425054-C-T		not specified	Uncertain significance (Jun 03, 2022)
5-139425066-C-T		not specified	Uncertain significance (Oct 03, 2022)
5-139425094-T-G		not specified	Uncertain significance (Jan 10, 2023)
5-139426193-A-G		not specified	Uncertain significance (Mar 20, 2024)
5-139426199-C-T		not specified	Uncertain significance (Apr 17, 2023)
5-139426201-T-C		not specified	Uncertain significance (Oct 06, 2023)
5-139426249-T-G		not specified	Uncertain significance (May 26, 2024)
5-139426310-G-A		not specified	Uncertain significance (Dec 19, 2023)
5-139428640-G-C		not specified	Uncertain significance (Oct 18, 2021)
5-139428661-A-G		not specified	Uncertain significance (Dec 16, 2023)
5-139437411-T-C		not specified	Likely benign (Sep 27, 2021)
5-139437455-C-A		not specified	Uncertain significance (Apr 25, 2023)
5-139437457-T-C		not specified	Uncertain significance (Oct 25, 2022)
5-139437474-A-G		not specified	Uncertain significance (Apr 24, 2024)
5-139437552-A-G		not specified	Uncertain significance (Jun 17, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC18	protein_coding	protein_coding	ENST00000302060	8	35902

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.82e-8	0.843	125719	0	29	125748	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.33	143	195	0.732	0.0000101	2342
Missense in Polyphen		49	63.494	0.77173		793
Synonymous	-0.359	75	71.1	1.05	0.00000371	661
Loss of Function	1.56	15	23.1	0.649	0.00000146	252

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000154	0.000150
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.000277	0.000277
European (Non-Finnish)	0.000125	0.000123
Middle Eastern	0.00	0.00
South Asian	0.0000987	0.0000980
Other	0.000167	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0959

Intolerance Scores

• loftool: 0.638
• rvis_EVS: -0.71
• rvis_percentile_EVS: 14.4

Haploinsufficiency Scores

• pHI: 0.220
• hipred: Y
• hipred_score: 0.554
• ghis: 0.617

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.253

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc18

Gene ontology

• Biological process: ubiquitin-dependent ERAD pathway;chaperone cofactor-dependent protein refolding;cellular response to misfolded protein
• Cellular component: endoplasmic reticulum membrane;integral component of membrane
• Molecular function: Hsp70 protein binding