ABT1

Chr 6

activator of basal transcription 1

Also known as: Esf2, hABT1

Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
1.01
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?
1.01LOEUF
pLI 0.020
Z-score 1.55
OE 0.44 (0.221.01)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.17Z-score
OE missense 0.96 (0.861.09)
187 obs / 193.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.221.01)
00.351.4
Missense OE?0.96 (0.861.09)
00.61.4
Synonymous OE?1.09
01.21.6
LoF obs/exp: 4 / 9.0Missense obs/exp: 187 / 193.8Syn Z: -0.58

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ABT1 · 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.

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