TBATA

Chr 10

thymus, brain and testes associated

ENSG00000166220UniProt: Q96M53OMIM: 612640

May play a role in spermatid differentiation. Modulates thymic stromal cell proliferation and thymus function

OMIMResearchGenerating clinical summary…
12
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.43
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.43LOEUF
pLI 0.000
Z-score 0.26
OE 0.93 (0.62–1.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.23Z-score
OE missense 0.95 (0.85–1.07)
191 obs / 200.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.93 (0.62–1.43)
0≤0.351.4
Missense OE?0.95 (0.85–1.07)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 15 / 16.1Missense obs/exp: 191 / 200.4Syn Z: -0.27

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

TBATA · 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

ClinicalTrials.gov
Neuro-PASCLong COVID

Immune-mediated Pathogenic Mechanisms of Neuro-PASC in Veterans

RECRUITING
NCT06932237VA Office of Research and DevelopmentStarted 2025-02-20
Glioblastoma IDH (Isocitrate Dehydrogenase) Wildtype

Feasibility of ONCOhabitats for Surgical and Treatment Planning in IDH-Wildtype Glioblastoma (SINUE)

RECRUITING
NCT07111195Juan M Garcia-GomezStarted 2024-07-16
The ONCOhabitats software for MRI-based habitat segmentation
Retinitis Pigmentosa

Safety and Efficacy Study of Novel Gene Therapy ZM-02 for Retinitis Pigmentosa Patients

RECRUITING
NCT06292650Phase EARLY_PHASE1Zhongmou TherapeuticsStarted 2024-02-25
ZM-02-LZM-02-HZM-02-S
Colorectal Cancer (CRC)

Spatial RadiomIcs and TRanscriptomics to the DIscovery of the Cross-link Between Colon Cancer and ChrOnic Kidney Disease

RECRUITING
NCT06886282National Cancer Institute, NaplesStarted 2024-11-05
Pancreatic Cancer

Prediction of Surgical Resectability After FOLFIRINOX Chemotherapy for Borderline Resectable and Locally Advanced Pancreatic Cancer: the Role of Diffusion Weighted Magnetic Resonance Imaging, Radiomics and Liquid Biopsy (PeRFormanCe Trial)

RECRUITING
NCT05298722Phase NAUniversity Hospital, GhentStarted 2022-12-12
Imaging analysis of CT-scan and MRI with radiomics and genetic analysis of peripheral blood samples and questionnaires.
Congenital Hearing LossGene TherapySpeech Perception

Perceptual Evaluation and Rehabilitation System Development for Congenital Hearing Loss

RECRUITING
NCT07024524Phase NAEye & ENT Hospital of Fudan UniversityStarted 2025-07-04
Rehabilitation training
pMMR/MSSLocally Advanced Rectal CarcinomaFasting, Intermittent

16-Hour Fasting Plus Serplulimab and CAPEOX as Neoadjuvant Therapy in pMMR/MSS Advanced Mid-to-Low Rectal Cancer

NOT YET RECRUITING
NCT07779694Phase PHASE2Zhejiang UniversityStarted 2026-10-01
16-Hour FastingSerplulimab + chemotherapy
Alzheimer Disease, Late OnsetMild Cognitive ImpairmentSubjective Cognitive Decline

Establish Diagnostic and Prognostic Models for Preclinical AD Patients Based on Multimodal MRI, Behavioral, Genetic, and Plasma Biomarkers

RECRUITING
NCT06561906The Affiliated Nanjing Drum Tower Hospital of Nanjing University Medical SchoolStarted 2020-09-01
Multimodal magnetic resonance imaging scanning, behavioral, genetic and plasma biomarker testing
Acne

Non-interventional Translational Study in Mild, Moderate and Severe Acne Patients

NOT YET RECRUITING
NCT07411638National Skin CentreStarted 2026-02-15
Pancreatic Ductal Adenocarcinoma (PDAC)Colorectal Cancer (CRC)Liver Metastasis

Advanced Therapies for Liver Metastases

RECRUITING
NCT04622423IRCCS San RaffaeleStarted 2019-11-06
Brain and Central Nervous System Tumors

Risk-Adapted Therapy for Young Children With Embryonal Brain Tumors, Choroid Plexus Carcinoma, High Grade Glioma or Ependymoma

ACTIVE NOT RECRUITING
NCT00602667Phase PHASE2St. Jude Children's Research HospitalStarted 2007-12-17
Induction ChemotherapyLow-Risk TherapyHigh-Risk Therapy
Recurrent Endometrial CarcinomaRecurrent Endometrial Clear Cell AdenocarcinomaRecurrent Endometrial Endometrioid Adenocarcinoma

Testing Different Amounts of the Combination of Drugs M1774 and ZEN-3694 for the Treatment of Recurrent Ovarian and Endometrial Cancer

RECRUITING
NCT05950464Phase PHASE1National Cancer Institute (NCI)Started 2023-12-18
BET Bromodomain Inhibitor ZEN-3694Biopsy ProcedureBiospecimen Collection

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients