PASD1

Chr X

PAS domain containing repressor 1

Also known as: CT63, CT64, OXTES1

NCBI Gene: 139135ENSG00000166049UniProt: Q8IV76

This gene encodes a protein that is thought to function as a transcription factor. The protein is a cancer-associated antigen that can stimulate autologous T-cell responses, and it is therefore considered to be a potential immunotherapeutic target for the treatment of various hematopoietic malignancies, including diffuse large B-cell lymphoma. [provided by RefSeq, May 2010]

0
Active trials
86
Pathogenic / LP
210
ClinVar variants
0
Pubs (1 yr)
-0.8
Missense Z
0.38
LOEUF
Clinical Summary— PASD1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.82) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
86 Pathogenic / Likely Pathogenic· 102 VUS of 210 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.38LOEUF
pLI 0.823
Z-score 4.00
OE 0.18 (0.09–0.38)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
-0.81Z-score
OE missense 1.14 (1.04–1.25)
319 obs / 280.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.18 (0.09–0.38)
0≤0.351.4
Missense OE1.14 (1.04–1.25)
0≤0.61.4
Synonymous OE1.13
0≤1.21.6
LoF obs/exp: 5 / 27.7Missense obs/exp: 319 / 280.7Syn Z: -1.05

ClinVar Variant Classifications

210 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic84
Likely Pathogenic2
VUS102
Likely Benign21
Conflicting1
84
Pathogenic
2
Likely Pathogenic
102
VUS
21
Likely Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
84
0
84
Likely Pathogenic
0
0
2
0
2
VUS
0
99
3
0
102
Likely Benign
0
19
0
2
21
Benign
0
0
0
0
0
Conflicting
—1
Total0118892210

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

PASD1 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Molecular genetic and clinical characteristic analysis of primary signet ring cell carcinoma of urinary bladder identified by a novel OR2L5 mutation
Alradhi M et al.·Cancer Med
2023
Systems-Level Mapping of Cancer Testis Antigen 1b/a to Sarcoma Pathways Identifies Activated Ran Binding-2 E3 SUMO-Protein Ligase and Transducin-Like Enhancer Protein 1
Papanikolaou NA et al.·Front Genet
2022
Identification of Cancer/Testis Antigens Related to Gastric Cancer Prognosis Based on Co-Expression Network and Integrated Transcriptome Analyses
Ansari S et al.·Adv Biomed Res
2023
Biological features of tissue and bone sarcomas investigated using an in vitro model of clonal selection.
Avdonkina NA et al.·Pathol Res Pract
2021Functional
Identification of Novel Characteristics in TP53-Mutant Hepatocellular Carcinoma Using Bioinformatics
Yang Y et al.·Front Genet
2022
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Analogue peptides for the immunotherapy of human acute myeloid leukemia.
Hofmann S et al.·Cancer Immunol Immunother
2015Review
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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