DNAJC5G

DnaJ heat shock protein family (Hsp40) member C5 gamma, the group of DNAJ (HSP40) heat shock proteins

Basic information

Region (hg38): 2:27275433-27281499

Links

ENSG00000163793 ∙ NCBI:285126 ∙ OMIM:613946 ∙ HGNC:24844 ∙ Uniprot:Q8N7S2 ∙ 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 DNAJC5G gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNAJC5G 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			9	2		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	9	2	0

Variants in DNAJC5G

This is a list of pathogenic ClinVar variants found in the DNAJC5G region.

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

Position	Type	Phenotype	Significance	ClinVar
2-27276756-C-T		not specified	Uncertain significance (Apr 19, 2023)
2-27276808-G-A		not specified	Uncertain significance (Oct 12, 2024)
2-27276816-C-T		not specified	Uncertain significance (Nov 09, 2021)
2-27277801-G-A		not specified	Uncertain significance (Sep 24, 2024)
2-27277815-C-T		not specified	Uncertain significance (Feb 28, 2023)
2-27277816-G-A		not specified	Likely benign (May 25, 2022)
2-27277876-A-G		not specified	Uncertain significance (Oct 03, 2022)
2-27277912-G-A		not specified	Uncertain significance (Sep 16, 2021)
2-27277977-G-A		not specified	Uncertain significance (Sep 07, 2022)
2-27278189-C-A		not specified	Uncertain significance (Apr 25, 2022)
2-27278197-A-G		not specified	Uncertain significance (Oct 10, 2023)
2-27278292-A-C		not specified	Uncertain significance (Nov 26, 2024)
2-27280174-T-G		not specified	Likely benign (Nov 07, 2022)
2-27280189-G-A		not specified	Uncertain significance (Nov 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNAJC5G	protein_coding	protein_coding	ENST00000296097	4	6079

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000585	0.477	125665	0	83	125748	0.000330

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0551	104	106	0.985	0.00000558	1250
Missense in Polyphen		37	37.818	0.97836		466
Synonymous	-0.260	43	40.9	1.05	0.00000240	341
Loss of Function	0.429	7	8.34	0.840	3.48e-7	121

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00232	0.00233
Ashkenazi Jewish	0.00	0.00
East Asian	0.00163	0.00163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000704	0.0000703
Middle Eastern	0.00163	0.00163
South Asian	0.0000327	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Pathway: Protein processing in endoplasmic reticulum - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0673

Intolerance Scores

• loftool: 0.762
• rvis_EVS: 0.35
• rvis_percentile_EVS: 74.18

Haploinsufficiency Scores

• pHI: 0.0363
• hipred: N
• hipred_score: 0.276
• ghis: 0.428

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00251

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnajc5g
• Phenotype: homeostasis/metabolism phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Cellular component: membrane