PPAN-P2RY11
protein-codingPPAN-P2RY11 readthrough
Gene 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. [provided by RefSeq, Nov 2010]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~8.6 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to PPAN-P2RY11 variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 14 | 6 | 20 | |||
| missense | 6 | 3 | 2 | 11 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 6 | 18 | 8 | 32 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001035754.1 | 13 | Standard | |
| RefSeq | NP_001185619.1 | 13 | Standard | |
| Ensembl | ENSP00000377385.4 | 13 | Standard | |
| Ensembl | ENSP00000411918.1 | 13 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- ribosomal large subunit assembly
- G protein-coupled purinergic nucleotide receptor signaling pathway
Molecular Function
- G protein-coupled purinergic nucleotide receptor activity
Cellular Component
- integral component of membrane
- preribosome, large subunit precursor
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000393796
- Coding exons
- 13
- Length
- 8558
- Individuals with no LoFs
- 125401
- Homozygous LoFs
- 4
- Heterozygous LoFs
- 342
- Defined
- 125747
- p
- 0.00138
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -1.77 | 647 | 532 | 1.22 | 0.0000365 | 5061 |
| Missense (PolyPhen) | 253 | 214.83 | 1.1777 | 2151 | ||
| Synonymous | -4.30 | 321 | 237 | 1.36 | 0.0000168 | 1650 |
| Loss of Function | 0.911 | 21 | 26.0 | 0.807 | 0.00000128 | 285 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0028 | 0.0026 | notable |
| Latino/Admixed American | 0.00041 | 0.00040 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00039 | 0.00038 | rare |
| Finnish | 0.00014 | 0.00014 | rare |
| European (Non-Finnish) | 0.00071 | 0.00069 | rare |
| South Asian | 0.0064 | 0.0063 | notable |
| Other | 0.0015 | 0.0015 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May have a role in cell growth.;
Intolerance Scores
- RVIS EVS
- -0.62
- RVIS percentile EVS
- 17.17
Essentials
- Essential (CRISPR)
- E
- Indispensability pred.
- E
- Indispensability score
- 0.914