THEMIS

Chr 6

thymocyte selection associated

Also known as: C6orf190, C6orf207, GASP, SPOT, THEMIS1, TSEPA

This gene encodes a protein that plays a regulatory role in both positive and negative T-cell selection during late thymocyte development. The protein functions through T-cell antigen receptor signaling, and is necessary for proper lineage commitment and maturation of T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

ResearchGenerating clinical summary…
0
Active trials
17
Pubs (1 yr)
P/LP submissions
P/LP missense
0.87
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.87LOEUF
pLI 0.000
Z-score 2.05
OE 0.55 (0.350.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.58Z-score
OE missense 1.09 (1.001.18)
381 obs / 350.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.55 (0.350.87)
00.351.4
Missense OE?1.09 (1.001.18)
00.61.4
Synonymous OE?1.17
01.21.6
LoF obs/exp: 13 / 23.8Missense obs/exp: 381 / 350.3Syn Z: -1.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

THEMIS · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →