SPDYE6

Chr 7

speedy/RINGO cell cycle regulator family member E6

NCBI Gene: 729597ENSG00000260097UniProt: P0CI01

This gene encodes a cell cycle regulatory protein which plays an important role in cell cycle progression by binding and activating cyclin-dependent kinases. The encoded protein belongs to a family of cyclin-dependent kinase regulators that contain a speedy box domain which is required for cyclin-dependent kinase activation. [provided by RefSeq, Jul 2017]

55
ClinVar variants
18
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— SPDYE6
📋
ClinVar Variants
18 Pathogenic / Likely Pathogenic· 36 VUS of 55 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

55 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic16
Likely Pathogenic2
VUS36
Likely Benign1
16
Pathogenic
2
Likely Pathogenic
36
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
16
0
16
Likely Pathogenic
0
0
2
0
2
VUS
0
33
3
0
36
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total03421055

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

View in ClinVar →

Protein Context — Lollipop Plot

SPDYE6 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for SPDYE6

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools