MDFIC

Chr 7

MyoD family inhibitor domain containing

Also known as: HIC, LMPHM12, MDFIC1

This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtLymphatic malformation 12
0
Active trials
7
Pubs (1 yr)
P/LP submissions
P/LP missense
0.86
LOEUF
Multiple*
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?
0.86LOEUF
pLI 0.038
Z-score 1.88
OE 0.38 (0.180.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.29Z-score
OE missense 1.07 (0.941.21)
167 obs / 156.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.38 (0.180.86)
00.351.4
Missense OE?1.07 (0.941.21)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 4 / 10.6Missense obs/exp: 167 / 156.8Syn Z: -0.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MDFIC · 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.

Search ClinicalTrials.gov →