PHF3
Chr 6PHD finger protein 3
This gene encodes a member of a PHD finger-containing gene family. This gene may function as a transcription factor and may be involved in glioblastomas development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
ResearchGenerating clinical summary…
Clinical highlights
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
1
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.29
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.29LOEUF
pLI 0.993
Z-score 6.78
OE 0.19 (0.12–0.29)
Highly LoF-intolerant (top ~10% of genes)
Missense Constraint?
0.76Z-score
OE missense 0.93 (0.89–0.98)
972 obs / 1040.6 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.19 (0.12–0.29)
0≤0.351.4
Missense OE?0.93 (0.89–0.98)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 15 / 80.8Missense obs/exp: 972 / 1040.6Syn Z: -1.04
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PHF3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools