ID1

Chr 20

inhibitor of DNA binding 1

Also known as: ID, bHLHb24

The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
1
Active trials
113
Pubs (1 yr)
P/LP submissions
P/LP missense
1.84
LOEUF
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.84LOEUF
pLI 0.000
Z-score -0.15
OE 1.07 (0.551.84)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.01Z-score
OE missense 1.59 (1.391.81)
148 obs / 93.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.07 (0.551.84)
00.351.4
Missense OE?1.59 (1.391.81)
00.61.4
Synonymous OE?1.77
01.21.6
LoF obs/exp: 5 / 4.7Missense obs/exp: 148 / 93.4Syn Z: -3.93

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ID1 · protein map & ClinVar variants

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