CCNE1

Chr 19

cyclin E1

Also known as: CCNE, pCCNE1

The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. [provided by RefSeq, Apr 2016]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
5
Active trials
208
Pubs (1 yr)
P/LP submissions
P/LP missense
0.32
LOEUF· LoF intol.
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.32LOEUF
pLI 0.972
Z-score 4.00
OE 0.12 (0.060.32)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.53Z-score
OE missense 0.72 (0.630.82)
168 obs / 233.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.12 (0.060.32)
00.351.4
Missense OE?0.72 (0.630.82)
00.61.4
Synonymous OE?1.04
01.21.6
LoF obs/exp: 3 / 24.3Missense obs/exp: 168 / 233.8Syn Z: -0.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CCNE1 · 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

Solid Tumors

Study of INCB123667 in Subjects With Advanced Solid Tumors

ACTIVE NOT RECRUITING
NCT05238922Phase PHASE1Incyte CorporationStarted 2022-07-05
INCB0123667PalbociclibBevacizumab
Recurrent Ovarian High Grade Serous AdenocarcinomaRecurrent Platinum-Resistant Ovarian Carcinoma

Testing the Addition of Abemaciclib to Olaparib for Women With Recurrent Ovarian Cancer

RECRUITING
NCT04633239Phase PHASE1National Cancer Institute (NCI)Started 2021-07-02
AbemaciclibBiopsy ProcedureBiospecimen Collection
Advanced Fallopian Tube CarcinomaAdvanced Malignant Solid NeoplasmAdvanced Ovarian Carcinoma

Testing the Addition of an Anti-cancer Drug, Elimusertib (BAY 1895344) ATR Inhibitor, to the Chemotherapy Treatment (Gemcitabine) for Advanced Pancreatic and Ovarian Cancer, and Advanced Solid Tumors

ACTIVE NOT RECRUITING
NCT04616534Phase PHASE1National Cancer Institute (NCI)Started 2021-06-01
Biopsy ProcedureBiospecimen CollectionDiagnostic Imaging Testing
Advanced Solid Tumor

A Phase I/II Study of WJB001 Combination Therapy on Safety and Efficacy for Advanced Solid Tumors

RECRUITING
NCT06953323Phase PHASE1, PHASE2Wigen Biomedicine Technology (Shanghai) Co., Ltd.Started 2025-07-10
WJB001 Capsules+Paclitaxel/Paclitaxel-albuminWJB001 Capsules+carboplatin/NedaplatinWJB001 Capsules+Paclitaxel+carboplatin
Metastatic Colorectal AdenocarcinomaRefractory Colorectal AdenocarcinomaStage III Colorectal Cancer AJCC v8

Testing the Effectiveness of the Anti-cancer Drug Pidnarulex (CX-5461), in Combination With Another Anti-cancer Drug Cemiplimab (REGN2810), in Treating Refractory Microsatellite Stable Colorectal Cancer

RECRUITING
NCT07147231Phase PHASE1, PHASE2National Cancer Institute (NCI)Started 2026-08-10
Biopsy ProcedureBiospecimen CollectionCemiplimab