DNAJC27

DnaJ heat shock protein family (Hsp40) member C27, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 2:24943635-24972094

Previous symbols: [ "RBJ" ]

Links

ENSG00000115137 ∙ NCBI:51277 ∙ OMIM:613527 ∙ HGNC:30290 ∙ Uniprot:Q9NZQ0 ∙ 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 DNAJC27 gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC27 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			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in DNAJC27

This is a list of pathogenic ClinVar variants found in the DNAJC27 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-24951397-G-A		not specified	Uncertain significance (May 23, 2023)
2-24951454-C-T		not specified	Uncertain significance (May 27, 2022)
2-24951455-G-A		not specified	Uncertain significance (May 01, 2022)
2-24951473-C-T		not specified	Uncertain significance (Feb 05, 2024)
2-24951489-A-T		not specified	Uncertain significance (Apr 12, 2023)
2-24951551-A-C		not specified	Uncertain significance (Dec 20, 2023)
2-24957068-C-T		not specified	Uncertain significance (Sep 07, 2022)
2-24957146-C-T		not specified	Uncertain significance (Jun 18, 2021)
2-24957829-A-G		not specified	Uncertain significance (Dec 22, 2023)
2-24957932-C-A		not specified	Uncertain significance (Oct 27, 2023)
2-24963421-T-C		not specified	Uncertain significance (Feb 15, 2023)
2-24963467-C-T		not specified	Uncertain significance (Feb 27, 2023)
2-24967268-T-C		not specified	Uncertain significance (Jan 08, 2024)
2-24971840-A-G		not specified	Uncertain significance (May 31, 2023)
2-24971864-G-C		not specified	Uncertain significance (Feb 28, 2023)
2-24971867-C-T		not specified	Likely benign (Dec 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC27	protein_coding	protein_coding	ENST00000264711	7	28459

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00128	0.964	125686	0	61	125747	0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.484	142	159	0.892	0.00000851	1811
Missense in Polyphen		35	48.634	0.71966		556
Synonymous	0.754	45	51.9	0.867	0.00000272	493
Loss of Function	1.86	7	14.7	0.476	8.34e-7	172

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000718	0.000715
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000187	0.000185
Middle Eastern	0.00	0.00
South Asian	0.000697	0.000686
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: GTPase which can activate the MEK/ERK pathway and induce cell transformation when overexpressed. May act as a nuclear scaffold for MAPK1, probably by association with MAPK1 nuclear export signal leading to enhanced ERK1/ERK2 signaling. {ECO:0000250|UniProtKB:Q8CFP6}.

Intolerance Scores

• loftool: 0.785
• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.89

Haploinsufficiency Scores

• pHI: 0.489
• hipred: N
• hipred_score: 0.369
• ghis: 0.554

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.682

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc27
• Phenotype: cellular phenotype; homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); neoplasm; digestive/alimentary phenotype

Gene ontology

• Biological process: intracellular protein transport;Rab protein signal transduction;positive regulation of ERK1 and ERK2 cascade;regulation of MAPK export from nucleus
• Cellular component: nucleus
• Molecular function: GTPase activity;protein binding;GTP binding