TRPS1

Chr 8

transcriptional repressor GATA binding 1

Also known as: GC79, LGCR

NCBI Gene: 7227ENSG00000104447UniProt: Q9UHF7

This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtTricho-rhino-phalangeal syndrome 1
UniProtTricho-rhino-phalangeal syndrome 2
UniProtTricho-rhino-phalangeal syndrome 3

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
100
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.11
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — TRPS1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.11LOEUF
pLI 1.000
Z-score 5.92
OE 0.02 (0.01–0.11)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
1.54Z-score
OE missense 0.83 (0.78–0.89)
562 obs / 674.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.02 (0.01–0.11)
0≤0.351.4
Missense OE?0.83 (0.78–0.89)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 1 / 42.9Missense obs/exp: 562 / 674.8Syn Z: -0.60

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TRPS1 · 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 →

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