CDIPTOSP

Chr 16

CDIP transferase opposite strand, pseudogene

Also known as: CDIPT-AS1, lnc-CTHCC

NCBI Gene: 440356 ENSG00000214725 UniProt: P0DO92

I notice that no supporting information has been provided for the gene CDIPTOSP. Without data about protein function, associated diseases, inheritance patterns, or clinical phenotypes, I cannot write a clinical gene summary following the strict rules to use only the information provided. Please provide the relevant clinical and molecular data for this gene so I can create an accurate summary for the pediatric neurogenetics portal.

Research

Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

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

gnomAD v4 · ~152k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 5,900

9 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in CDIPTOSP; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 5 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~79k	none seen	1 in 12,000
South Asian	~30k	none seen	1 in 2,200
Admixed American	~14k	none seen	≈ 1 in 6,800
Remaining (unassigned)	~7,146	none seen	≈ 1 in 3,600
East Asian	~4,605	none seen	≈ 1 in 4,300

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.