UBTFL1

Chr 11

upstream binding transcription factor like 1

Also known as: C11orf27, HMGPI

NCBI Gene: 642623ENSG00000255009UniProt: P0CB47OMIM: 613696

The UBTFL1 protein is essential for RNA polymerase I transcription initiation and is critical for early embryonic development, particularly proliferation of inner cell mass and trophoblast cells during peri-implantation stages. Mutations in this gene cause autosomal recessive developmental delay with microcephaly and structural brain abnormalities, typically presenting in early infancy. This condition primarily affects the central nervous system with severe neurodevelopmental consequences.

OMIMResearchSummary from RefSeq, UniProt
DNmechanism
Clinical Summary— UBTFL1
📋
ClinVar Variants
17 unique Pathogenic / Likely Pathogenic· 48 VUS of 73 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

DN
0.6453th %ile
GOF
0.4875th %ile
LOF
0.2679th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

73 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic16
Likely Pathogenic1
VUS48
Likely Benign7
Benign1
16
Pathogenic
1
Likely Pathogenic
48
VUS
7
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
16
0
16
Likely Pathogenic
0
0
1
0
1
VUS
0
40
8
0
48
Likely Benign
0
3
3
1
7
Benign
0
0
1
0
1
Total04329173

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

View in ClinVar →

Protein Context — Lollipop Plot

UBTFL1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

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