DNAJC28

DnaJ heat shock protein family (Hsp40) member C28, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 21:33488055-33491716

Previous symbols: [ "C21orf55" ]

Links

ENSG00000177692 ∙ NCBI:54943 ∙ ∙ HGNC:1297 ∙ Uniprot:Q9NX36 ∙ 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 DNAJC28 gene.

• not_specified (36 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC28 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001040192.3. 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						0
missense			32	3		35
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	33	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC28	protein_coding	protein_coding	ENST00000314399	1	3531

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.65e-8	0.231	79634	6036	40059	125729	0.204

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0154	200	201	0.997	0.00000969	2605
Missense in Polyphen		62	71.89	0.86243		871
Synonymous	1.06	56	67.1	0.835	0.00000332	684
Loss of Function	0.449	13	14.9	0.874	0.00000105	158

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.259	0.258
Ashkenazi Jewish	0.194	0.192
East Asian	0.142	0.140
Finnish	0.284	0.280
European (Non-Finnish)	0.239	0.234
Middle Eastern	0.142	0.140
South Asian	0.190	0.177
Other	0.232	0.229

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May have a role in protein folding or as a chaperone.

Intolerance Scores

• loftool: 0.231
• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.41

Haploinsufficiency Scores

• pHI: 0.100
• hipred: N
• hipred_score: 0.144
• ghis: 0.500

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.191

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc28
• Phenotype: hearing/vestibular/ear phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;Golgi organization;Golgi vesicle prefusion complex stabilization
• Cellular component: Golgi transport complex
• Molecular function: protein binding