This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.00
Gscore (Del):
0.82 (Driver)
Recurrently deleted in 4 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
0.03
Recurrently mutated in 1 cancer type(s)
Overall
Tissue specific
Total fusion occurrence:
1
Fusions detected in 1 cancer type(s)
Overall
Tissue specific
Functional class:
Not specified
JensenLab PubMed score:
835.03 (Percentile rank: 94.42%)
PubTator score:
191.45 (Percentile rank: 85.44%)
Target development/druggability level:
TchemThese targets have activities in ChEMBL or DrugCentral that satisfy the activity thresholds detailed below.
Tractability (small molecule):
Discovery PrecedenceTargets with ligands; Targets with crystal structures with ligands
Tractability (antibody):
Predicted Tractable - High confidenceTargets located in the plasma membrane; Targets with GO cell component terms plasma membrane or secreted
