DNAJC14

DnaJ heat shock protein family (Hsp40) member C14, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 12:55820960-55830824

Links

ENSG00000135392 ∙ NCBI:85406 ∙ OMIM:606092 ∙ HGNC:24581 ∙ Uniprot:Q6Y2X3 ∙ 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 DNAJC14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC14 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			34	1		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	1	0

Variants in DNAJC14

This is a list of pathogenic ClinVar variants found in the DNAJC14 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-55822012-G-A		not specified	Uncertain significance (May 07, 2024)
12-55822023-G-C		not specified	Uncertain significance (Mar 16, 2024)
12-55822107-T-C		not specified	Uncertain significance (May 24, 2023)
12-55822132-G-C		not specified	Uncertain significance (May 05, 2023)
12-55822140-C-T		not specified	Uncertain significance (Jan 24, 2024)
12-55822451-C-G		not specified	Uncertain significance (Feb 28, 2023)
12-55822730-C-T		not specified	Uncertain significance (Jan 24, 2024)
12-55823099-C-G		not specified	Uncertain significance (Sep 20, 2023)
12-55827400-C-T		not specified	Uncertain significance (Sep 01, 2021)
12-55827407-T-G		not specified	Uncertain significance (Aug 16, 2022)
12-55827409-G-T		not specified	Uncertain significance (Mar 02, 2023)
12-55827493-C-T		not specified	Likely benign (Oct 29, 2021)
12-55827521-G-T		not specified	Uncertain significance (Nov 18, 2022)
12-55827532-C-G		not specified	Uncertain significance (Nov 29, 2023)
12-55827559-G-T		not specified	Uncertain significance (Mar 31, 2023)
12-55827596-G-A		not specified	Uncertain significance (Aug 16, 2022)
12-55827601-C-A		not specified	Uncertain significance (Apr 08, 2024)
12-55827676-C-A		not specified	Uncertain significance (Nov 17, 2022)
12-55827755-C-T		not specified	Uncertain significance (Oct 03, 2022)
12-55827836-C-A		not specified	Uncertain significance (Dec 23, 2022)
12-55827886-A-T		not specified	Uncertain significance (Dec 15, 2022)
12-55827910-G-T		not specified	Uncertain significance (Jan 09, 2024)
12-55827929-G-C		not specified	Uncertain significance (Feb 10, 2022)
12-55827994-C-T		not specified	Uncertain significance (Jul 13, 2021)
12-55828024-C-A		not specified	Uncertain significance (Nov 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC14	protein_coding	protein_coding	ENST00000357606	6	9865

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000654	125736	0	10	125746	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.57	317	406	0.781	0.0000231	4547
Missense in Polyphen		43	83.985	0.512		1060
Synonymous	0.842	134	147	0.912	0.00000717	1445
Loss of Function	5.36	0	33.5	0.00	0.00000208	340

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000618	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates the export of target proteins, such as DRD1, from the endoplasmic reticulum to the cell surface. {ECO:0000250}.
• Pathway: Gene expression (Transcription);RNA Polymerase II Transcription;Metabolism of RNA;Cleavage of Growing Transcript in the Termination Region ;RNA Polymerase II Transcription Termination;Transport of Mature mRNA derived from an Intron-Containing Transcript;mRNA 3,-end processing;Transport of Mature Transcript to Cytoplasm;Processing of Capped Intron-Containing Pre-mRNA (Consensus)

Recessive Scores

• pRec: 0.145

Intolerance Scores

• loftool: 0.248
• rvis_EVS: -0.34
• rvis_percentile_EVS: 30.56

Haploinsufficiency Scores

• pHI: 0.575
• hipred: N
• hipred_score: 0.302
• ghis: 0.616

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.887

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc14
• Phenotype: hearing/vestibular/ear phenotype

Gene ontology

• Biological process: protein transport
• Cellular component: endoplasmic reticulum membrane;membrane;integral component of membrane
• Molecular function: dopamine receptor binding