CCNDBP1

Chr 15

cyclin D1 binding protein 1

Also known as: DIP1, GCIP, HHM

NCBI Gene: 23582 ENSG00000166946 UniProt: O95273

This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene. [provided by RefSeq, Apr 2009]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in CCNDBP1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

469 rare PASS variants

Rare truncating (LoF)

1 in 1,800

83 rare PASS variants

Rare synonymous (reference)

1 in 180

165 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CCNDBP1. 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 150	1 in 2,500
South Asian	~43k	1 in 120	1 in 820
Remaining (unassigned)	~30k	1 in 130	1 in 940
European (Finnish)	~27k	1 in 770	1 in 2,400
Admixed American	~22k	1 in 150	1 in 620
African / African American	~21k	1 in 120	1 in 1,700
East Asian	~20k	1 in 230	1 in 1,600
Ashkenazi Jewish	~13k	1 in 210	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 130	1 in 250

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.