DNAJC9

DnaJ heat shock protein family (Hsp40) member C9, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 10:73183362-73247255

Links

ENSG00000213551 ∙ NCBI:23234 ∙ OMIM:611206 ∙ HGNC:19123 ∙ Uniprot:Q8WXX5 ∙ 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 DNAJC9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC9 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in DNAJC9

This is a list of pathogenic ClinVar variants found in the DNAJC9 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-73192573-C-T			Likely benign (Apr 01, 2022)
10-73192622-G-A		not specified	Uncertain significance (Mar 18, 2024)
10-73192628-AAG-A		Joubert syndrome 36 • Familial aplasia of the vermis	Likely pathogenic (Sep 22, 2024)
10-73192683-G-A		not specified	Uncertain significance (Jan 03, 2024)
10-73192686-T-G		not specified	Uncertain significance (Mar 29, 2022)
10-73193490-C-T		Joubert syndrome 36	Pathogenic (Feb 04, 2020)
10-73193499-A-C		not specified	Uncertain significance (Jul 14, 2024)
10-73193550-G-A		not specified	Uncertain significance (Sep 27, 2022)
10-73193566-C-A		not specified	Uncertain significance (Sep 16, 2021)
10-73193566-C-T		not specified	Uncertain significance (Sep 12, 2023)
10-73193569-T-C		not specified	Uncertain significance (Mar 20, 2023)
10-73208661-T-C			Likely benign (Oct 01, 2023)
10-73208664-TCATAAAG-T			Uncertain significance (Feb 12, 2024)
10-73208678-C-G		not specified	Uncertain significance (May 13, 2024)
10-73208697-C-T			Likely benign (May 01, 2023)
10-73208736-C-A			Likely benign (Dec 01, 2023)
10-73208741-CAGAA-C			Uncertain significance (Feb 07, 2024)
10-73210253-A-T		not specified	Uncertain significance (Nov 17, 2023)
10-73210329-T-G		not specified	Uncertain significance (Jan 04, 2022)
10-73210388-T-C		not specified	Uncertain significance (Mar 05, 2024)
10-73228078-C-A		not specified	Uncertain significance (Jan 24, 2024)
10-73228092-G-A		not specified	Likely benign (Oct 03, 2022)
10-73228165-T-C		not specified	Uncertain significance (Oct 08, 2024)
10-73228183-C-T		not specified	Uncertain significance (Jul 21, 2021)
10-73228184-G-C		not specified	Uncertain significance (Jul 11, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC9	protein_coding	protein_coding	ENST00000372950	5	65501

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00453	0.967	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.121	135	139	0.971	0.00000645	1692
Missense in Polyphen		33	35.219	0.937		480
Synonymous	1.28	43	55.1	0.781	0.00000280	475
Loss of Function	1.92	6	13.7	0.439	5.98e-7	154

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000868	0.0000868
Ashkenazi Jewish	0.00	0.00
East Asian	0.000194	0.000163
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000620	0.0000615
Middle Eastern	0.000194	0.000163
South Asian	0.0000981	0.0000980
Other	0.000333	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role as co-chaperone of the Hsp70 family proteins HSPA1A, HSPA1B and HSPA8. {ECO:0000269|PubMed:17182002}.

Recessive Scores

• pRec: 0.125

Intolerance Scores

• loftool: 0.806
• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.08

Haploinsufficiency Scores

• pHI: 0.117
• hipred: Y
• hipred_score: 0.608
• ghis: 0.591

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.352

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc9
• 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: dnajc9
• Affected structure: spinal cord
• Phenotype tag: abnormal
• Phenotype quality: curved

Gene ontology

• Biological process: positive regulation of ATPase activity;social behavior
• Cellular component: extracellular space;nucleus;nucleoplasm;cytoplasm;cytosol;plasma membrane
• Molecular function: protein binding;heat shock protein binding