CCDC28A

Chr 6

coiled-coil domain containing 28A

Also known as: C6orf80, CCRL1AP, LTAP2A

This gene encodes a coiled-coil domain containing protein. Although the specific function of this gene has not yet been determined, this gene is a known translocation partner of nucleoporin 98 in acute leukemias. The resulting fusion gene produces a nucleoporin 98-coiled-coil domain-containing protein 28A chimeric protein which may be involved in promoting myeloproliferative neoplasms. [provided by RefSeq, Jan 2017]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
1.65
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.65LOEUF
pLI 0.000
Z-score -0.23
OE 1.07 (0.701.65)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.10Z-score
OE missense 1.02 (0.901.17)
149 obs / 145.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.07 (0.701.65)
00.351.4
Missense OE?1.02 (0.901.17)
00.61.4
Synonymous OE?1.11
01.21.6
LoF obs/exp: 14 / 13.1Missense obs/exp: 149 / 145.6Syn Z: -0.66

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CCDC28A · 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 →