DSCAML1

Chr 11

DS cell adhesion molecule like 1

Also known as: DSCAM2

NCBI Gene: 57453 ENSG00000177103 UniProt: Q8TD84

DSCAML1 encodes a cell adhesion molecule that promotes neuronal self-avoidance by mediating repulsion between neuronal processes of the same cell or cell type, and facilitates lamina-specific synaptic connections in the retina. Mutations cause autosomal dominant or recessive intellectual disability and developmental delay, with some patients showing additional features including autism spectrum disorder and seizures. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to have significant clinical consequences.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016]

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

LOF

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 DSCAML1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 26

2,497 rare PASS variants

Rare truncating (LoF)

1 in 1,600

144 rare PASS variants

Rare synonymous (reference)

1 in 29

1,312 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DSCAML1. 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 30	1 in 1,700
South Asian	~43k	1 in 20	1 in 1,500
Remaining (unassigned)	~30k	1 in 22	1 in 1,900
European (Finnish)	~27k	1 in 53	1 in 1,900
Admixed American	~22k	1 in 21	1 in 810
African / African American	~21k	1 in 23	1 in 1,700
East Asian	~20k	1 in 26	1 in 1,600
Ashkenazi Jewish	~13k	1 in 86	1 in 2,000
Middle Eastern	~2,884	1 in 23	≈ 1 in 740

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.

Exome coverage (gnomAD): 32 of 33 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 33.? see exons ↓