DBF4B

Chr 17

DBF4B-CDC7 kinase regulatory subunit

Also known as: ASKL1, CHIFB, DRF1, ZDBF1B

This gene encodes a regulator of the cell division cycle 7 homolog (S. cerevisiae) protein, a serine-threonine kinase which links cell cycle regulation to genome duplication. This protein localizes to the nucleus and, in complex with the cell division cycle 7 homolog (S. cerevisiae) protein, may facilitate M phase progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]

0
Active trials
10
Pathogenic / LP
88
ClinVar variants
1
Pubs (1 yr)
0.9
Missense Z
1.17
LOEUF
Clinical SummaryDBF4B
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
10 Pathogenic / Likely Pathogenic· 73 VUS of 88 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.17LOEUF
pLI 0.000
Z-score 0.91
OE 0.80 (0.561.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.85Z-score
OE missense 0.87 (0.790.96)
306 obs / 351.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.80 (0.561.17)
00.351.4
Missense OE0.87 (0.790.96)
00.61.4
Synonymous OE0.93
01.21.6
LoF obs/exp: 19 / 23.8Missense obs/exp: 306 / 351.1Syn Z: 0.65

ClinVar Variant Classifications

88 submitted variants in ClinVar

Classification Summary

Pathogenic10
VUS73
Likely Benign5
10
Pathogenic
73
VUS
5
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
0
0
0
VUS
0
72
1
0
73
Likely Benign
0
5
0
0
5
Benign
0
0
0
0
0
Total07711088

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

DBF4B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC