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.

• not_provided (210 variants)
• not_specified (41 variants)
• DNAJC17-related_disorder (7 variants)
• Hydrocephalus,_nonsyndromic,_autosomal_recessive_1 (1 variants)

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. These statistics are base on transcript: NM_000018163.3. 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	47	1	50
missense			99	4	2	105
nonsense						0
start loss						0
frameshift			3			3
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	106	51	3

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