DNAJC17

DnaJ heat shock protein family (Hsp40) member C17, the group of RNA binding motif containing|DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 15:40765161-40807478

Links

ENSG00000104129 ∙ NCBI:55192 ∙ OMIM:616844 ∙ HGNC:25556 ∙ Uniprot:Q9NVM6 ∙ 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 DNAJC17 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC17 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				39	1	40
missense			73	3	2	78
nonsense						0
start loss						0
frameshift			3			3
inframe indel			3			3
splice donor/acceptor (+/-2bp)			1			1
splice region			2	12	1	15
non coding			9	33	1	43
Total	0	0	89	75	4

Variants in DNAJC17

This is a list of pathogenic ClinVar variants found in the DNAJC17 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-40767252-C-A		not specified	Uncertain significance (May 06, 2024)
15-40767279-G-A		not specified	Uncertain significance (Dec 19, 2023)
15-40767290-C-T		not specified	Uncertain significance (May 21, 2024)
15-40767332-T-C		not specified	Uncertain significance (Oct 03, 2022)
15-40767940-C-A			Uncertain significance (Jun 18, 2022)
15-40767943-C-T			Likely benign (Nov 03, 2022)
15-40767945-T-C			Uncertain significance (Sep 23, 2022)
15-40767946-A-G			Likely benign (Nov 07, 2022)
15-40767951-G-A		not specified	Uncertain significance (Mar 31, 2024)
15-40767951-G-C			Uncertain significance (Jul 25, 2022)
15-40767954-C-T			Uncertain significance (Aug 30, 2023)
15-40767958-C-T			Likely benign (Dec 30, 2023)
15-40767963-C-T			Uncertain significance (Feb 25, 2022)
15-40767978-G-C		not specified	Uncertain significance (Feb 05, 2024)
15-40767985-C-A			Likely benign (Jul 12, 2022)
15-40767992-T-G			Uncertain significance (Nov 25, 2023)
15-40767996-G-A			Uncertain significance (May 25, 2022)
15-40767999-C-G		not specified	Uncertain significance (Jan 29, 2024)
15-40767999-C-T			Uncertain significance (Oct 11, 2023)
15-40768000-G-A		not specified	Likely benign (Nov 14, 2024)
15-40768000-G-C		DNAJC17-related disorder	Likely benign (Oct 27, 2022)
15-40768000-G-T			Likely benign (Jun 08, 2022)
15-40768003-C-T			Likely benign (Sep 24, 2022)
15-40768002-C-CCGCCTGGCGCATGCGCATCATGACGAGGCT			Uncertain significance (Sep 28, 2022)
15-40768023-T-C		DNAJC17-related disorder	Likely benign (Jan 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC17	protein_coding	protein_coding	ENST00000220496	11	39609

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00203	0.994	125729	0	19	125748	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.269	170	180	0.944	0.0000113	1956
Missense in Polyphen		34	50.932	0.66756		579
Synonymous	0.939	59	68.9	0.856	0.00000384	571
Loss of Function	2.52	8	20.3	0.395	8.61e-7	251

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000268	0.000268
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000819	0.0000791
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May negatively affect PAX8-induced thyroglobulin/TG transcription. {ECO:0000250|UniProtKB:Q91WT4}.

Intolerance Scores

• loftool: 0.563
• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.29

Haploinsufficiency Scores

• pHI: 0.165
• hipred: N
• hipred_score: 0.379
• ghis: 0.458

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• gene_indispensability_pred: N
• gene_indispensability_score: 0.452

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc17
• Phenotype: homeostasis/metabolism 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)

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;toxin transport
• Cellular component: nucleus;cytoplasm
• Molecular function: RNA binding