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DNAJB13

Synonyms
CILD34, RSPH16A, TSARG5, TSARG6
External resources
Summary
This gene encodes a member of the heat shock protein 40 co-chaperone family which is produced in large amounts in the testis and is located on the radial spokes of the axoneme in human sperm flagella and other flagellar structures. The encoded protein associates with the sperm annulus, as part of the septin complex, through direct interaction with septin 4, during sperm terminal differentiation. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and male infertility.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
1
Likely pathogenic
2
VUS
3,876
Likely benign
1,849
Benign
428

Patient phenotypes

Proportions of phenotypes among 2 patients carring pathogenic or likely pathogenic variants on DNAJB13 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
100%
Abnormality of head or neck
50%
Abnormality of limbs
50%
Abnormality of the cardiovascular system
50%
Abnormality of the eye
50%
Abnormality of the immune system
50%
Abnormality of the integument
50%
Abnormality of the musculoskeletal system
50%
Growth abnormality
50%
Neoplasm
50%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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