DNAJC16

DnaJ heat shock protein family (Hsp40) member C16, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 1:15526812-15592379

Links

ENSG00000116138 ∙ NCBI:23341 ∙ OMIM:619973 ∙ HGNC:29157 ∙ Uniprot:Q9Y2G8 ∙ 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 DNAJC16 gene.

• Inborn genetic diseases (30 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC16 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			26	1		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding			2		1	3
Total	0	0	28	1	1

Variants in DNAJC16

This is a list of pathogenic ClinVar variants found in the DNAJC16 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-15529116-G-C		not specified	Uncertain significance (Feb 27, 2024)
1-15529131-C-T		not specified	Uncertain significance (Aug 12, 2022)
1-15534273-C-G		not specified	Uncertain significance (Feb 12, 2024)
1-15536478-C-T		not specified	Uncertain significance (Sep 26, 2022)
1-15536578-G-A		not specified	Uncertain significance (Jan 26, 2022)
1-15536581-A-G		not specified	Uncertain significance (Mar 02, 2023)
1-15536665-A-G		not specified	Uncertain significance (Jan 24, 2024)
1-15536767-A-T		not specified	Uncertain significance (Mar 01, 2023)
1-15544417-T-C		not specified	Uncertain significance (Sep 27, 2022)
1-15544441-T-A		not specified	Uncertain significance (Nov 02, 2023)
1-15544446-C-T		not specified	Uncertain significance (Jan 11, 2023)
1-15544485-A-G		not specified	Uncertain significance (Sep 17, 2021)
1-15544527-C-T		not specified	Uncertain significance (Sep 26, 2023)
1-15544542-C-T		Hereditary spastic paraplegia	Affects (-)
1-15546771-C-G		not specified	Uncertain significance (Oct 17, 2023)
1-15546812-G-A		not specified	Uncertain significance (Apr 18, 2023)
1-15546863-T-A		not specified	Uncertain significance (Jul 12, 2023)
1-15548291-G-T		not specified	Uncertain significance (Jan 17, 2024)
1-15548352-G-A		not specified	Likely benign (Feb 06, 2023)
1-15548417-G-T		not specified	Uncertain significance (Aug 22, 2022)
1-15559530-G-A		not specified	Uncertain significance (Dec 28, 2022)
1-15559537-G-A		not specified	Uncertain significance (Dec 06, 2022)
1-15559569-G-A		not specified	Likely benign (Jan 26, 2023)
1-15559623-T-A		not specified	Uncertain significance (Sep 06, 2022)
1-15559647-G-A		not specified	Uncertain significance (Jan 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC16	protein_coding	protein_coding	ENST00000375847	14	65567

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.62e-11	0.996	125682	0	66	125748	0.000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.374	412	434	0.949	0.0000239	5152
Missense in Polyphen		152	150.77	1.0082		1876
Synonymous	0.303	167	172	0.971	0.00000973	1485
Loss of Function	2.70	24	43.1	0.557	0.00000254	473

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000268	0.000268
Ashkenazi Jewish	0.000496	0.000496
East Asian	0.000109	0.000109
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000363	0.000360
Middle Eastern	0.000109	0.000109
South Asian	0.000165	0.000163
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.751
• rvis_EVS: -1.26
• rvis_percentile_EVS: 5.26

Haploinsufficiency Scores

• pHI: 0.120
• hipred: N
• hipred_score: 0.492
• ghis: 0.658

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.306

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc16
• Phenotype: limbs/digits/tail phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); embryo phenotype

Gene ontology

• Biological process: cell redox homeostasis
• Cellular component: cell;integral component of membrane