Information on PNP
Basic details
Alt. symbols: NP | PUNP
Approved name: purine nucleoside phosphorylase
Alt. names: nucleoside phosphorylase
Location: 14q11.2: 20461992 - 20477094 (+)
Gene type: protein_coding, 11 transcripts.
Scores: LoFtool: 0.289000 | pLI: 0.06562680 | LOEUF: 1.152
Normal function
Dysfunction and disease
Immunodeficiency due to purine nucleoside phosphorylase deficiency [MIM:613179] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
1157 |
Immunodeficiency due to Purine nucleoside phosphorylase deficiency | AR |
613179 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of PNP
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000361505.10 | 1 | CCDS9552 | Select | protein_coding | 6 | Yes | 1477 | NM_000270 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in PNP
| ID | Year | Title | Journal | PMID | Variants |
|---|