THY1

Chr 11

Thy-1 cell surface antigen

Also known as: CD90, CDw90

NCBI Gene: 7070 ENSG00000154096 UniProt: P04216 OMIM: 188230

This gene encodes a cell surface glycoprotein and member of the immunoglobulin superfamily of proteins. The encoded protein is involved in cell adhesion and cell communication in numerous cell types, but particularly in cells of the immune and nervous systems. The encoded protein is widely used as a marker for hematopoietic stem cells. This gene may function as a tumor suppressor in nasopharyngeal carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

216

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in THY1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 280

223 rare PASS variants

Rare truncating (LoF)

1 in 6,800

40 rare PASS variants

Rare synonymous (reference)

1 in 840

99 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for THY1. 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 420	1 in 8,500
South Asian	~43k	1 in 180	≈ 1 in 14,000
Remaining (unassigned)	~30k	1 in 250	≈ 1 in 10,000
European (Finnish)	~27k	1 in 910	1 in 3,300
Admixed American	~22k	1 in 300	1 in 3,200
African / African American	~21k	1 in 410	1 in 1,800
East Asian	~20k	1 in 390	≈ 1 in 4,800
Ashkenazi Jewish	~13k	1 in 2,500	1 in 1,500
Middle Eastern	~2,884	1 in 210	none seen

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.