CCDC85B

Chr 11

coiled-coil domain containing 85B

Also known as: DIPA

NCBI Gene: 11007 ENSG00000175602 UniProt: Q15834

The CCDC85B protein functions as a transcriptional repressor that regulates cell growth by inhibiting CTNNB1 activity in a TP53-dependent manner and plays a role in cell-cell adhesion and epithelium development through interactions with beta-catenin family proteins. Mutations in this gene cause autosomal recessive neurodevelopmental disorders with intellectual disability and developmental delay. The gene shows moderate tolerance to loss-of-function variants (pLI 0.31, LOEUF 1.14), consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

Hepatitis delta virus (HDV) is a pathogenic human virus whose RNA genome and replication cycle resemble those of plant viroids. Delta-interacting protein A (DIPA), a cellular gene product, has been found to have homology to hepatitis delta virus antigen (HDAg). DIPA interacts with the viral antigen, HDAg, and can affect HDV replication in vitro. [provided by RefSeq, Jul 2008]

ResearchGenerating 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.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.14

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.14LOEUF

pLI 0.313

Z-score 1.43

OE 0.24 (0.09–1.14)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.57Z-score

OE missense 0.53 (0.42–0.68)

47 obs / 88.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.24 (0.09–1.14)

0≤0.351.4

Missense OE?0.53 (0.42–0.68)

0≤0.61.4

Synonymous OE?0.64

0≤1.21.6

LoF obs/exp: 1 / 4.1Missense obs/exp: 47 / 88.7Syn Z: 1.85

Background carrier burden — how many people carry a rare variant somewhere in CCDC85B?

gnomAD v4 · ~727k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 290

238 rare PASS variants

Rare truncating (LoF)

1 in 17,000

20 rare PASS variants

Rare synonymous (reference)

1 in 670

127 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CCDC85B. 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)	~555k	1 in 690	1 in 18,000
South Asian	~43k	1 in 710	≈ 1 in 20,000
Remaining (unassigned)	~30k	1 in 210	≈ 1 in 30,000
European (Finnish)	~26k	1 in 1,100	≈ 1 in 11,000
Admixed American	~22k	1 in 240	≈ 1 in 7,600
African / African American	~21k	1 in 430	≈ 1 in 7,200
East Asian	~19k	1 in 330	none seen
Ashkenazi Jewish	~13k	1 in 1,200	none seen
Middle Eastern	~2,875	1 in 320	≈ 1 in 1,200

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.