DNAJC21 |
- 1
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- DNAJC21 (HGNC:27030) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- DnaJ heat shock protein family (Hsp40) member C21
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- GS3, DNAJA5, JJJ1
- %HI
- 49.28(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.72(Read more about gnomAD LOEUF score)
- Cytoband
- 5p13.2
- Genomic Coordinates
-
GRCh37/hg19: chr5:34929664-34959069 NCBI Ensembl UCSC GRCh38/hg38: chr5:34929559-34958964 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001012339.3 ENST00000648817.1 (Read more about MANE Select)
- Function
- May act as a co-chaperone for HSP70. May play a role in ribosomal RNA (rRNA) biogenesis, possibly in the maturation of the 60S subunit. Binds the precursor 45S rRNA. {ECO:0000269|PubMed:27346687}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-6381
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency
(1)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
10/14/2020
Haploinsufficiency (HI) Score Details
HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- Bone marrow failure syndrome 3 Monarch
HI Evidence:
-
PUBMED:
26822949
Lhota F et al (2016) performed SOLiD sequencing of 581 genes in 325 BRCA1/BRCA2/PALB2-negative high-risk Czech breast cancer patients and 105 controls. Two truncating variants, c.1503delA (p.K501Nfs*10) in 3 patients and c.1629delT (p.F543Lfs*4) in 2 patients (Fig 1, table 2), were found in patient group only. Per author, the allele frequencies of both variants in the patient’s group are significantly higher than that recorded in ExAC.
HI Evidence Comments:
Only one study reported increased frequency of germline loss-of-function variants in DNAJC21 in high risk breast cancer patient in comparison with population database, although biallelic loss of DANJC21 has been recently associated with hereditary bone marrow failure syndrome (Tummala H 2016, PMID 27346687, primary report), a condition which is characterized by onset of pancytopenia, and is cancer-prone.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
no evidence of triplosensitivity
Genomic View
Select assembly:
(NC_000005.9)
(NC_000005.10)