Home > Gene Browser > PPAN-P2RY11

PPAN-P2RY11

Synonyms
BXDC3, P2RY11, P2Y11, PPAN, SSF1, Ssf-1
External resources
Summary
This locus represents naturally occurring read-through transcription between the adjacent PPAN and P2RY11 genes. Alternative splicing results in two transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. This transcript is found to be ubiquitously expressed and is up-regulated by agents inducing granulocytic differentiation. However, its functional significance in vivo remains unclear.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
12,767
Likely benign
6,491
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PPAN-P2RY11 gene.

Phenotype class
Patients in 3billion (%)

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