DNAJC11

DnaJ heat shock protein family (Hsp40) member C11, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 1:6634167-6701924

Links

ENSG00000007923 ∙ NCBI:55735 ∙ OMIM:614827 ∙ HGNC:25570 ∙ Uniprot:Q9NVH1 ∙ 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 DNAJC11 gene.

• Inborn genetic diseases (23 variants)
• not provided (2 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC11 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					2	2
missense			23			23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	23	0	3

Variants in DNAJC11

This is a list of pathogenic ClinVar variants found in the DNAJC11 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-6635679-C-T		not specified	Uncertain significance (Jan 04, 2024)
1-6635694-C-T		not specified	Uncertain significance (Dec 19, 2022)
1-6636167-A-G		not specified	Uncertain significance (Oct 05, 2021)
1-6636171-C-T		not specified	Uncertain significance (Jun 18, 2021)
1-6636172-G-A			Benign (Jul 11, 2018)
1-6636207-C-T		not specified	Uncertain significance (Feb 05, 2024)
1-6637211-G-A		not specified	Uncertain significance (Feb 13, 2024)
1-6637225-C-T			Benign (Jul 11, 2018)
1-6637470-A-G		not specified	Uncertain significance (Jun 18, 2021)
1-6638297-C-T		not specified	Uncertain significance (Apr 05, 2023)
1-6638315-T-G		not specified	Uncertain significance (Oct 12, 2021)
1-6638336-C-T		not specified	Uncertain significance (Apr 17, 2023)
1-6639941-C-T		not specified	Uncertain significance (Feb 21, 2024)
1-6639947-A-C		not specified	Uncertain significance (Dec 16, 2023)
1-6639948-T-C		not specified	Uncertain significance (May 18, 2023)
1-6639975-C-T		not specified	Uncertain significance (Nov 29, 2023)
1-6640071-C-CA		not specified	Benign (Mar 29, 2016)
1-6644574-C-T		not specified	Uncertain significance (Feb 28, 2024)
1-6644591-A-G		not specified	Uncertain significance (Sep 29, 2023)
1-6644613-C-T		not specified	Uncertain significance (Jun 30, 2023)
1-6644622-T-C		not specified	Uncertain significance (May 17, 2023)
1-6644630-T-G		not specified	Uncertain significance (Apr 06, 2023)
1-6645090-G-C		not specified	Uncertain significance (Oct 06, 2022)
1-6645097-G-C		not specified	Uncertain significance (Feb 28, 2023)
1-6645105-C-T		not specified	Uncertain significance (Aug 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC11	protein_coding	protein_coding	ENST00000377577	16	67757

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.00107	125739	0	8	125747	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.85	237	332	0.715	0.0000196	3630
Missense in Polyphen		32	73.28	0.43668		791
Synonymous	-0.379	139	133	1.04	0.00000852	1093
Loss of Function	5.07	4	37.5	0.107	0.00000228	388

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000530	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Isoform 1: Required for mitochondrial inner membrane organization. Seems to function through its association with the MICOS complex and the mitochondrial outer membrane sorting assembly machinery (SAM) complex. {ECO:0000269|PubMed:25111180, ECO:0000305}.

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.422
• rvis_EVS: -0.16
• rvis_percentile_EVS: 42.16

Haploinsufficiency Scores

• pHI: 0.177
• hipred: Y
• hipred_score: 0.673
• ghis: 0.555

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.805

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc11
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system 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); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); immune system phenotype; cellular phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; muscle phenotype

Gene ontology

• Biological process: cristae formation
• Cellular component: mitochondrial sorting and assembly machinery complex;mitochondrion;MICOS complex
• Molecular function: protein binding