DNAJC17

Chr 15

DnaJ heat shock protein family (Hsp40) member C17

NCBI Gene: 55192 ENSG00000104129 UniProt: Q9NVM6 OMIM: 616844

Predicted to enable RNA binding activity. Predicted to be involved in spliceosomal complex disassembly. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm and nucleus. Predicted to be part of spliceosomal complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.71

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.71LOEUF

pLI 0.002

Z-score 2.52

OE 0.39 (0.23–0.71)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.27Z-score

OE missense 0.94 (0.83–1.07)

170 obs / 180.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.39 (0.23–0.71)

0≤0.351.4

Missense OE?0.94 (0.83–1.07)

0≤0.61.4

Synonymous OE?0.86

0≤1.21.6

LoF obs/exp: 8 / 20.3Missense obs/exp: 170 / 180.2Syn Z: 0.94

Background carrier burden — how many people carry a rare variant somewhere in DNAJC17?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 150

384 rare PASS variants

Rare truncating (LoF)

1 in 2,800

71 rare PASS variants

Rare synonymous (reference)

1 in 520

125 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DNAJC17. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 160	1 in 3,300
South Asian	~43k	1 in 140	1 in 7,200
Remaining (unassigned)	~30k	1 in 100	1 in 1,900
European (Finnish)	~27k	1 in 280	1 in 4,400
Admixed American	~22k	1 in 130	1 in 4,500
African / African American	~21k	1 in 100	1 in 1,500
East Asian	~20k	1 in 180	≈ 1 in 5,000
Ashkenazi Jewish	~13k	1 in 650	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 96	1 in 580

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 11 coding exons well covered in gnomAD exomes and genomes.? see exons ↓