PNP (purine nucleoside phosphorylase) - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: PNP (purine nucleoside phosphorylase) Homo sapiens
Analyze
Symbol: PNP
Name: purine nucleoside phosphorylase
RGD ID: 1349909
HGNC Page HGNC
Description: Exhibits several functions, including identical protein binding activity; phosphate ion binding activity; and purine-nucleoside phosphorylase activity. Involved in several processes, including nucleobase-containing small molecule metabolic process; positive regulation of T cell activation; and purine-containing compound biosynthetic process. Localizes to cytosol. Implicated in purine nucleoside phosphorylase deficiency and purine-pyrimidine metabolic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: epididymis secretory sperm binding protein Li 156an; FLJ94043; FLJ97288; FLJ97312; HEL-S-156an; inosine phosphorylase; inosine-guanosine phosphorylase; MGC117396; MGC125915; MGC125916; NP; PRO1837; PUNP; purine-nucleoside:orthophosphate ribosyltransferase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: PNPP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1420,468,954 - 20,477,089 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1420,468,954 - 20,477,094 (+)EnsemblGRCh38hg38GRCh38
GRCh381420,469,406 - 20,477,089 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371420,937,538 - 20,946,165 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371420,937,565 - 20,945,248 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361420,007,382 - 20,015,088 (+)NCBINCBI36hg18NCBI36
Build 341420,007,404 - 20,015,039NCBI
Celera14798,688 - 807,315 (+)NCBI
Cytogenetic Map14q11.2NCBI
HuRef141,059,149 - 1,067,777 (+)NCBIHuRef
CHM1_11420,938,918 - 20,947,545 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
5-fluorouracil  (EXP)
acrolein  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic acid  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
benzoates  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
caffeine  (ISO)
carbon nanotube  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioscin  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
Enterolactone  (EXP)
folic acid  (ISO)
folpet  (ISO)
furan  (ISO)
gentamycin  (ISO)
isoprenaline  (ISO)
ketamine  (ISO)
L-ascorbic acid  (ISO)
menadione  (EXP)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
microcystin RR  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
ozone  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorononanoic acid  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
tert-butyl hydroperoxide  (EXP)
titanium dioxide  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vitamin E  (EXP)
vorinostat  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of B cell physiology  (IAGP)
Ataxia  (IAGP)
Autoimmune hemolytic anemia  (IAGP)
Autoimmune thrombocytopenia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Behavioral abnormality  (IAGP)
Cerebral palsy  (IAGP)
Cerebral vasculitis  (IAGP)
Decreased lymphocyte proliferation in response to mitogen  (IAGP)
Decreased proportion of CD3-positive T cells  (IAGP)
Decreased urinary urate  (IAGP)
Delayed gross motor development  (IAGP)
Failure to thrive  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Humoral immunodeficiency  (IAGP)
Hyperactivity  (IAGP)
Hypotonia  (IAGP)
Hypouricemia  (IAGP)
Impaired T cell function  (IAGP)
Increased circulating guanosine concentration  (IAGP)
Increased circulating inosine concentration  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Lymph node hypoplasia  (IAGP)
Lymphoma  (IAGP)
Lymphopenia  (IAGP)
Motor delay  (IAGP)
Neoplasm  (IAGP)
Neutropenia in presence of anti-neutropil antibodies  (IAGP)
Otitis media  (IAGP)
Pneumonia  (IAGP)
Pure red cell aplasia  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Recurrent opportunistic infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Recurrent viral infections  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe combined immunodeficiency  (IAGP)
Sinusitis  (IAGP)
Spastic diplegia  (IAGP)
Spastic paraparesis  (IAGP)
Splenomegaly  (IAGP)
Stroke  (IAGP)
Systemic lupus erythematosus  (IAGP)
Tetraparesis  (IAGP)
Tremor  (IAGP)
Unusual gastrointestinal infection  (IAGP)
References

Additional References at PubMed
PMID:100152   PMID:1384322   PMID:1560016   PMID:1923769   PMID:1931007   PMID:2104852   PMID:6087295   PMID:6771276   PMID:8931706   PMID:9067751   PMID:9305962   PMID:9305963  
PMID:9305964   PMID:9737781   PMID:10884411   PMID:11453975   PMID:11964161   PMID:12068295   PMID:12180982   PMID:12477932   PMID:12914785   PMID:12928150   PMID:13679062   PMID:14702039  
PMID:14706628   PMID:15047506   PMID:15489334   PMID:15571269   PMID:15582582   PMID:16169070   PMID:16930574   PMID:16964310   PMID:17221831   PMID:17639373   PMID:18281956   PMID:18281957  
PMID:18790691   PMID:18938130   PMID:18946041   PMID:19001417   PMID:19056867   PMID:19172318   PMID:19191546   PMID:19425594   PMID:19932753   PMID:20108972   PMID:20212140   PMID:20458337  
PMID:20532380   PMID:21319273   PMID:21348499   PMID:21448452   PMID:21800051   PMID:21873635   PMID:22132981   PMID:22578971   PMID:22586326   PMID:22623428   PMID:22658674   PMID:22863883  
PMID:22939629   PMID:23376485   PMID:23438750   PMID:23533145   PMID:24107682   PMID:24163370   PMID:24792412   PMID:25324306   PMID:25338677   PMID:25416956   PMID:25502805   PMID:25625196  
PMID:25659154   PMID:25665578   PMID:25814554   PMID:25963833   PMID:26305965   PMID:26344197   PMID:26496610   PMID:26985580   PMID:27609421   PMID:27976868   PMID:28137758   PMID:28859258  
PMID:29467282   PMID:29915028   PMID:30575818   PMID:31515488   PMID:31586073   PMID:31594818   PMID:31980649   PMID:32296183   PMID:32814053   PMID:33144569  


Genomics

Comparative Map Data
PNP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1420,468,954 - 20,477,089 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1420,468,954 - 20,477,094 (+)EnsemblGRCh38hg38GRCh38
GRCh381420,469,406 - 20,477,089 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371420,937,538 - 20,946,165 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh371420,937,565 - 20,945,248 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361420,007,382 - 20,015,088 (+)NCBINCBI36hg18NCBI36
Build 341420,007,404 - 20,015,039NCBI
Celera14798,688 - 807,315 (+)NCBI
Cytogenetic Map14q11.2NCBI
HuRef141,059,149 - 1,067,777 (+)NCBIHuRef
CHM1_11420,938,918 - 20,947,545 (+)NCBICHM1_1
Pnp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391451,193,598 - 51,202,206 (+)NCBIGRCm39mm39
GRCm381450,956,141 - 50,964,751 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1450,955,992 - 50,964,749 (+)EnsemblGRCm38mm10GRCm38
MGSCv371451,575,816 - 51,584,424 (+)NCBIGRCm37mm9NCBIm37
MGSCv361449,877,941 - 49,888,626 (+)NCBImm8
Cytogenetic Map14C1NCBI
Pnp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21524,170,456 - 24,178,274 (+)NCBI
Rnor_6.0 Ensembl1527,875,911 - 27,883,350 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01527,875,883 - 27,883,566 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01531,708,604 - 31,716,285 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41526,929,784 - 26,937,434 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1524,490,737 - 24,498,388 (+)NCBICelera
Cytogenetic Map15p14NCBI
Pnp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555501,290,244 - 1,298,068 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555501,290,816 - 1,299,553 (+)NCBIChiLan1.0ChiLan1.0
PNP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11419,396,114 - 19,403,907 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1419,396,114 - 19,403,907 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0141,343,921 - 1,351,670 (+)NCBIMhudiblu_PPA_v0panPan3
PNP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1517,808,461 - 17,815,676 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11517,808,454 - 17,815,987 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Pnp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936877686,539 - 692,832 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PNP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl778,424,740 - 78,446,997 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1778,426,838 - 78,447,029 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2783,454,669 - 83,474,828 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap7q21-qterNCBI
LOC103231345
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12920,992,892 - 21,001,400 (+)NCBI
ChlSab1.1 Ensembl2920,993,280 - 21,001,606 (+)Ensembl
Pnp
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248254,688,662 - 4,699,912 (-)NCBI

Position Markers
humpnu2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371420,940,508 - 20,940,684UniSTSGRCh37
Build 361420,010,348 - 20,010,524RGDNCBI36
Celera14801,658 - 801,834RGD
Cytogenetic Map14q13.1UniSTS
HuRef141,062,120 - 1,062,296UniSTS
GeneMap99-GB4 RH Map143.33UniSTS
SHGC-78026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371420,940,802 - 20,941,110UniSTSGRCh37
Build 361420,010,642 - 20,010,950RGDNCBI36
Celera14801,952 - 802,260RGD
Cytogenetic Map14q13.1UniSTS
HuRef141,062,414 - 1,062,722UniSTS
TNG Radiation Hybrid Map14296.0UniSTS
GDB:181553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371420,942,540 - 20,942,883UniSTSGRCh37
Build 361420,012,380 - 20,012,723RGDNCBI36
Celera14803,690 - 804,033RGD
Cytogenetic Map14q13.1UniSTS
HuRef141,064,152 - 1,064,495UniSTS
RH78901  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371420,944,912 - 20,945,065UniSTSGRCh37
Build 361420,014,752 - 20,014,905RGDNCBI36
Celera14806,062 - 806,215RGD
Cytogenetic Map14q13.1UniSTS
HuRef141,066,524 - 1,066,677UniSTS
GeneMap99-GB4 RH Map143.84UniSTS
NCBI RH Map1412.0UniSTS
SHGC-31518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371420,944,784 - 20,945,001UniSTSGRCh37
Build 361420,014,624 - 20,014,841RGDNCBI36
Celera14805,934 - 806,151RGD
Cytogenetic Map14q13.1UniSTS
HuRef141,066,396 - 1,066,613UniSTS
TNG Radiation Hybrid Map14312.0UniSTS
Stanford-G3 RH Map1439.0UniSTS
NCBI RH Map148.6UniSTS
GeneMap99-G3 RH Map1439.0UniSTS
RH18070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371420,944,976 - 20,945,098UniSTSGRCh37
Build 361420,014,816 - 20,014,938RGDNCBI36
Celera14806,126 - 806,248RGD
Cytogenetic Map14q13.1UniSTS
HuRef141,066,588 - 1,066,710UniSTS
GeneMap99-GB4 RH Map143.33UniSTS
NP  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371420,942,936 - 20,943,044UniSTSGRCh37
Celera14804,086 - 804,194UniSTS
HuRef141,064,548 - 1,064,656UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1-1hsa-miR-1Mirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI22068816
MIR1-1hsa-miR-1OncomiRDBexternal_infoNANA22068816

Predicted Target Of
Summary Value
Count of predictions:1583
Count of miRNA genes:741
Interacting mature miRNAs:872
Transcripts:ENST00000361505, ENST00000553418, ENST00000553591, ENST00000554056, ENST00000554065, ENST00000556293, ENST00000556754, ENST00000557229
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1896 2264 1588 559 1921 425 3407 768 2319 394 1029 1582 150 1 1200 1854 6 2
Low 543 727 138 65 30 40 946 1427 1415 25 431 31 25 4 933
Below cutoff 4 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH001522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY817667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM193354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU622706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR407607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X00737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000361505   ⟹   ENSP00000354532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1420,469,406 - 20,477,089 (+)Ensembl
RefSeq Acc Id: ENST00000553418   ⟹   ENSP00000450663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1420,468,954 - 20,474,571 (+)Ensembl
RefSeq Acc Id: ENST00000553591   ⟹   ENSP00000452421
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1420,469,541 - 20,475,146 (+)Ensembl
RefSeq Acc Id: ENST00000554056
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1420,469,414 - 20,477,058 (+)Ensembl
RefSeq Acc Id: ENST00000554065   ⟹   ENSP00000451108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1420,470,526 - 20,474,908 (+)Ensembl
RefSeq Acc Id: ENST00000556293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1420,469,406 - 20,473,200 (+)Ensembl
RefSeq Acc Id: ENST00000556754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1420,473,384 - 20,477,087 (+)Ensembl
RefSeq Acc Id: ENST00000557229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1420,469,406 - 20,475,163 (+)Ensembl
RefSeq Acc Id: NM_000270   ⟹   NP_000261
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381420,469,406 - 20,477,089 (+)NCBI
GRCh371420,937,538 - 20,946,165 (+)ENTREZGENE
Build 361420,007,382 - 20,015,088 (+)NCBI Archive
HuRef141,059,149 - 1,067,777 (+)ENTREZGENE
CHM1_11420,938,918 - 20,947,545 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000261   ⟸   NM_000270
- UniProtKB: P00491 (UniProtKB/Swiss-Prot),   V9HWH6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000354532   ⟸   ENST00000361505
RefSeq Acc Id: ENSP00000452421   ⟸   ENST00000553591
RefSeq Acc Id: ENSP00000450663   ⟸   ENST00000553418
RefSeq Acc Id: ENSP00000451108   ⟸   ENST00000554065
Protein Domains
PNP_UDP_1

Promoters
RGD ID:6791788
Promoter ID:HG_KWN:18765
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000270,   UC001VXN.2,   UC010AHM.1,   UC010AHN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361420,007,224 - 20,007,724 (+)MPROMDB
RGD ID:6850614
Promoter ID:EP73101
Type:single initiation site
Name:HS_NP
Description:Nucleoside phosphorylase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361420,007,405 - 20,007,465EPD
RGD ID:7226961
Promoter ID:EPDNEW_H19227
Type:initiation region
Name:PNP_1
Description:purine nucleoside phosphorylase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381420,469,406 - 20,469,466EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000270.3(PNP):c.503G>A (p.Arg168Gln) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000797839]|not provided [RCV000522561] Chr14:20475103 [GRCh38]
Chr14:20943262 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.265G>A (p.Glu89Lys) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000015025] Chr14:20474555 [GRCh38]
Chr14:20942714 [GRCh37]
Chr14:14q11.2
pathogenic|uncertain significance
NM_000270.3(PNP):c.520G>C (p.Ala174Pro) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000015026] Chr14:20475120 [GRCh38]
Chr14:20943279 [GRCh37]
Chr14:14q11.2
pathogenic
NM_000270.3(PNP):c.383A>G (p.Asp128Gly) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000015027] Chr14:20474870 [GRCh38]
Chr14:20943029 [GRCh37]
Chr14:14q11.2
pathogenic
NM_000270.3(PNP):c.701G>C (p.Arg234Pro) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000015028]|not provided [RCV000419921] Chr14:20476432 [GRCh38]
Chr14:20944591 [GRCh37]
Chr14:14q11.2
pathogenic|likely pathogenic
NM_000270.4(PNP):c.151G>A (p.Gly51Ser) single nucleotide variant NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM [RCV000015029]|Purine-nucleoside phosphorylase deficiency [RCV000299797]|not specified [RCV000127500] Chr14:20472447 [GRCh38]
Chr14:20940606 [GRCh37]
Chr14:14q11.2
benign
NM_000270.3(PNP):c.575A>G (p.Tyr192Cys) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000015030] Chr14:20475175 [GRCh38]
Chr14:20943334 [GRCh37]
Chr14:14q11.2
pathogenic
PNP, 1-BP DEL deletion Purine-nucleoside phosphorylase deficiency [RCV000015031] Chr14:14q13.1 pathogenic
NM_000270.3(PNP):c.70C>T (p.Arg24Ter) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000015032] Chr14:20472366 [GRCh38]
Chr14:20940525 [GRCh37]
Chr14:14q11.2
pathogenic
NM_000270.3(PNP):c.172C>T (p.Arg58Ter) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000015033] Chr14:20472468 [GRCh38]
Chr14:20940627 [GRCh37]
Chr14:14q11.2
pathogenic
NM_000270.3(PNP):c.285+1G>A single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000015034] Chr14:20474576 [GRCh38]
Chr14:20942735 [GRCh37]
Chr14:14q11.2
pathogenic
GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3 copy number gain See cases [RCV000050914] Chr14:20151149..23442195 [GRCh38]
Chr14:20619308..23911404 [GRCh37]
Chr14:19689148..22981244 [NCBI36]
Chr14:14q11.2
pathogenic
GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1 copy number loss See cases [RCV000051483] Chr14:19755249..22741281 [GRCh38]
Chr14:20223408..23210490 [GRCh37]
Chr14:19293248..22280330 [NCBI36]
Chr14:14q11.2
pathogenic
GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] Chr14:20151149..27723796 [GRCh38]
Chr14:20619308..28193002 [GRCh37]
Chr14:19689148..27262842 [NCBI36]
Chr14:14q11.2-12
pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2
pathogenic
GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1 copy number loss See cases [RCV000051486] Chr14:20475357..21613255 [GRCh38]
Chr14:20943516..22081409 [GRCh37]
Chr14:20013356..21151249 [NCBI36]
Chr14:14q11.2
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3 copy number gain See cases [RCV000053804] Chr14:20127290..21376436 [GRCh38]
Chr14:20595449..21844595 [GRCh37]
Chr14:19665289..20914435 [NCBI36]
Chr14:14q11.2
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
NM_000270.3(PNP):c.12-18A>T single nucleotide variant not specified [RCV000127498] Chr14:20472290 [GRCh38]
Chr14:20940449 [GRCh37]
Chr14:14q11.2
benign
NM_000270.4(PNP):c.60C>T (p.His20=) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000370775]|not specified [RCV000127499] Chr14:20472356 [GRCh38]
Chr14:20940515 [GRCh37]
Chr14:14q11.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_000270.4(PNP):c.171C>T (p.Pro57=) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000259695]|not specified [RCV000127501] Chr14:20472467 [GRCh38]
Chr14:20940626 [GRCh37]
Chr14:14q11.2
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 copy number gain See cases [RCV000137725] Chr14:20412587..25018120 [GRCh38]
Chr14:20880746..25487326 [GRCh37]
Chr14:19950586..24557166 [NCBI36]
Chr14:14q11.2-12
likely pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2
pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3
pathogenic
GRCh37/hg19 14q11.2(chr14:20922785-20937690)x3 copy number gain Ductal breast carcinoma [RCV000207123] Chr14:20922785..20937690 [GRCh37]
Chr14:14q11.2
uncertain significance
GRCh37/hg19 14q11.2-12(chr14:19100682-28730087) copy number gain not provided [RCV000767822] Chr14:19100682..28730087 [GRCh37]
Chr14:14q11.2-12
pathogenic
NM_000270.3(PNP):c.649G>A (p.Val217Ile) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001080542]|not provided [RCV000513741] Chr14:20475249 [GRCh38]
Chr14:20943408 [GRCh37]
Chr14:14q11.2
benign
GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3 copy number gain See cases [RCV000240285] Chr14:19794561..27768254 [GRCh37]
Chr14:14q11.2-12
pathogenic
NM_000270.3(PNP):c.*1057T>C single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000265052] Chr14:20477658 [GRCh38]
Chr14:20945817 [GRCh37]
Chr14:14q11.2
benign|likely benign
NM_000270.3(PNP):c.*595C>T single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000301354] Chr14:20477196 [GRCh38]
Chr14:20945355 [GRCh37]
Chr14:14q11.2
benign|likely benign
NM_000270.3(PNP):c.*317G>A single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000396830] Chr14:20476918 [GRCh38]
Chr14:20945077 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.*1105dup duplication Purine-nucleoside phosphorylase deficiency [RCV000303873] Chr14:20477705..20477706 [GRCh38]
Chr14:20945864..20945865 [GRCh37]
Chr14:14q11.2
likely benign
NM_000270.3(PNP):c.*811G>A single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000304961] Chr14:20477412 [GRCh38]
Chr14:20945571 [GRCh37]
Chr14:14q11.2
benign|likely benign
NM_000270.3(PNP):c.*254C>T single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000288868] Chr14:20476855 [GRCh38]
Chr14:20945014 [GRCh37]
Chr14:14q11.2
benign|likely benign
NM_000270.3(PNP):c.678C>T (p.Ile226=) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000289959] Chr14:20476409 [GRCh38]
Chr14:20944568 [GRCh37]
Chr14:14q11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000270.3(PNP):c.*1198T>C single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000273275] Chr14:20477799 [GRCh38]
Chr14:20945958 [GRCh37]
Chr14:14q11.2
benign|likely benign
NM_000270.3(PNP):c.-96G>A single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000291266] Chr14:20469429 [GRCh38]
Chr14:20937588 [GRCh37]
Chr14:14q11.2
benign|uncertain significance
NM_000270.3(PNP):c.*372G>C single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000292338] Chr14:20476973 [GRCh38]
Chr14:20945132 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.*1342A>T single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000334096] Chr14:20477943 [GRCh38]
Chr14:20946102 [GRCh37]
Chr14:14q11.2
benign|likely benign
NM_000270.3(PNP):c.*1272T>C single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000276664] Chr14:20477873 [GRCh38]
Chr14:20946032 [GRCh37]
Chr14:14q11.2
benign|uncertain significance
NM_000270.3(PNP):c.*1391T>C single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000294273] Chr14:20477992 [GRCh38]
Chr14:20946151 [GRCh37]
Chr14:14q11.2
benign
NM_000270.4(PNP):c.285+10A>G single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000317230]|not specified [RCV000455677] Chr14:20474585 [GRCh38]
Chr14:20942744 [GRCh37]
Chr14:14q11.2
benign
NM_000270.3(PNP):c.*799A>G single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000390074] Chr14:20477400 [GRCh38]
Chr14:20945559 [GRCh37]
Chr14:14q11.2
likely benign|uncertain significance
NM_000270.3(PNP):c.620G>A (p.Arg207His) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000320540] Chr14:20475220 [GRCh38]
Chr14:20943379 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.-91G>T single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000343922] Chr14:20469434 [GRCh38]
Chr14:20937593 [GRCh37]
Chr14:14q11.2
benign|uncertain significance
NM_000270.3(PNP):c.*483A>C single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000349561] Chr14:20477084 [GRCh38]
Chr14:20945243 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.*274C>T single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000350608] Chr14:20476875 [GRCh38]
Chr14:20945034 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.-83C>G single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000399994] Chr14:20469442 [GRCh38]
Chr14:20937601 [GRCh37]
Chr14:14q11.2
benign|likely benign
NM_000270.3(PNP):c.*213C>G single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000380963] Chr14:20476814 [GRCh38]
Chr14:20944973 [GRCh37]
Chr14:14q11.2
likely benign|uncertain significance
NM_000270.3(PNP):c.159C>A (p.Ile53=) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000356988] Chr14:20472455 [GRCh38]
Chr14:20940614 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.*1233T>C single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000382857] Chr14:20477834 [GRCh38]
Chr14:20945993 [GRCh37]
Chr14:14q11.2
benign|likely benign
NM_000270.3(PNP):c.*728T>C single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000335164] Chr14:20477329 [GRCh38]
Chr14:20945488 [GRCh37]
Chr14:14q11.2
benign
NM_000270.3(PNP):c.*1386C>T single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000386143] Chr14:20477987 [GRCh38]
Chr14:20946146 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.549G>T (p.Glu183Asp) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000267882] Chr14:20475149 [GRCh38]
Chr14:20943308 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.*816C>T single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000361949] Chr14:20477417 [GRCh38]
Chr14:20945576 [GRCh37]
Chr14:14q11.2
benign|likely benign
NM_000270.3(PNP):c.*1146A>C single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000365018] Chr14:20477747 [GRCh38]
Chr14:20945906 [GRCh37]
Chr14:14q11.2
benign|likely benign
NM_000270.3(PNP):c.*506_*513del deletion Purine-nucleoside phosphorylase deficiency [RCV000401739] Chr14:20477104..20477111 [GRCh38]
Chr14:20945263..20945270 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.66G>C (p.Lys22Asn) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000391224] Chr14:20472362 [GRCh38]
Chr14:20940521 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.10G>C (p.Gly4Arg) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000530251] Chr14:20469534 [GRCh38]
Chr14:20937693 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.*1222C>T single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000325955] Chr14:20477823 [GRCh38]
Chr14:20945982 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.377T>C (p.Val126Ala) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000360220] Chr14:20474864 [GRCh38]
Chr14:20943023 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.653-9C>T single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000377530] Chr14:20476375 [GRCh38]
Chr14:20944534 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.11+5G>T single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000313671] Chr14:20469540 [GRCh38]
Chr14:20937699 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.778_790delinsCA (p.Val260fs) indel Purine-nucleoside phosphorylase deficiency [RCV000328549] Chr14:20476509..20476521 [GRCh38]
Chr14:20944668..20944680 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.60C>A (p.His20Gln) single nucleotide variant not provided [RCV000592494] Chr14:20472356 [GRCh38]
Chr14:20940515 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.286-18G>A single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000606768] Chr14:20474755 [GRCh38]
Chr14:20942914 [GRCh37]
Chr14:14q11.2
pathogenic|likely pathogenic
NM_000270.3(PNP):c.268G>A (p.Gly90Arg) single nucleotide variant not specified [RCV000413493] Chr14:20474558 [GRCh38]
Chr14:20942717 [GRCh37]
Chr14:14q11.2
uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_000270.3(PNP):c.653-4T>C single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000634530]|not specified [RCV000431521] Chr14:20476380 [GRCh38]
Chr14:20944539 [GRCh37]
Chr14:14q11.2
benign|likely benign
NM_000270.3(PNP):c.679G>A (p.Val227Ile) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000559949]|not specified [RCV000443770] Chr14:20476410 [GRCh38]
Chr14:20944569 [GRCh37]
Chr14:14q11.2
benign|likely benign
GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 copy number gain See cases [RCV000448273] Chr14:19794561..34049214 [GRCh37]
Chr14:14q11.2-13.1
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_000270.3(PNP):c.553C>A (p.Arg185Ser) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000542997]|not provided [RCV000494021] Chr14:20475153 [GRCh38]
Chr14:20943312 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.543G>C (p.Met181Ile) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000634531] Chr14:20475143 [GRCh38]
Chr14:20943302 [GRCh37]
Chr14:14q11.2
likely benign
NM_000270.3(PNP):c.410A>G (p.Asn137Ser) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000625899] Chr14:20474897 [GRCh38]
Chr14:20943056 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.482C>T (p.Ala161Val) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000634526] Chr14:20475082 [GRCh38]
Chr14:20943241 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.466G>A (p.Gly156Arg) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000634527] Chr14:20475066 [GRCh38]
Chr14:20943225 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.12-9C>A single nucleotide variant not provided [RCV000634528] Chr14:20472299 [GRCh38]
Chr14:20940458 [GRCh37]
Chr14:14q11.2
benign
NM_000270.3(PNP):c.435C>T (p.Asn145=) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000634529] Chr14:20474922 [GRCh38]
Chr14:20943081 [GRCh37]
Chr14:14q11.2
likely benign
NM_000270.3(PNP):c.554G>A (p.Arg185His) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000700065] Chr14:20475154 [GRCh38]
Chr14:20943313 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.404A>G (p.His135Arg) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000704921] Chr14:20474891 [GRCh38]
Chr14:20943050 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.461G>A (p.Arg154Lys) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000685618] Chr14:20474948 [GRCh38]
Chr14:20943107 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.16A>C (p.Thr6Pro) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000694452] Chr14:20472312 [GRCh38]
Chr14:20940471 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.246G>T (p.Gln82His) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000695669] Chr14:20474536 [GRCh38]
Chr14:20942695 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.815A>G (p.Glu272Gly) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000703376] Chr14:20476546 [GRCh38]
Chr14:20944705 [GRCh37]
Chr14:14q11.2
uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2(chr14:20731947-20971784)x3 copy number gain not provided [RCV000750936] Chr14:20731947..20971784 [GRCh37]
Chr14:14q11.2
benign
GRCh37/hg19 14q11.2(chr14:20743269-20969733)x3 copy number gain not provided [RCV000750937] Chr14:20743269..20969733 [GRCh37]
Chr14:14q11.2
benign
NM_000270.4(PNP):c.825C>T (p.Val275=) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000945077] Chr14:20476556 [GRCh38]
Chr14:20944715 [GRCh37]
Chr14:14q11.2
likely benign
NM_000270.4(PNP):c.753C>T (p.Ser251=) single nucleotide variant not provided [RCV000929559] Chr14:20476484 [GRCh38]
Chr14:20944643 [GRCh37]
Chr14:14q11.2
likely benign
NM_000270.4(PNP):c.498C>T (p.Tyr166=) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000904255] Chr14:20475098 [GRCh38]
Chr14:20943257 [GRCh37]
Chr14:14q11.2
likely benign
NM_000270.4(PNP):c.288G>C (p.Val96=) single nucleotide variant not provided [RCV000937507] Chr14:20474775 [GRCh38]
Chr14:20942934 [GRCh37]
Chr14:14q11.2
likely benign
NM_000270.4(PNP):c.729C>T (p.Asn243=) single nucleotide variant not provided [RCV000922040] Chr14:20476460 [GRCh38]
Chr14:20944619 [GRCh37]
Chr14:14q11.2
likely benign
NM_000270.4(PNP):c.569G>A (p.Gly190Asp) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001058558] Chr14:20475169 [GRCh38]
Chr14:20943328 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.461+10T>A single nucleotide variant not provided [RCV000917141] Chr14:20474958 [GRCh38]
Chr14:20943117 [GRCh37]
Chr14:14q11.2
likely benign
NM_000270.3(PNP):c.553C>T (p.Arg185Cys) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000807300] Chr14:20475153 [GRCh38]
Chr14:20943312 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.685C>T (p.Arg229Trp) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000811131] Chr14:20476416 [GRCh38]
Chr14:20944575 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.230C>G (p.Ala77Gly) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000813014] Chr14:20474520 [GRCh38]
Chr14:20942679 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.769C>G (p.His257Asp) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000819434]|not provided [RCV000788357] Chr14:20476500 [GRCh38]
Chr14:20944659 [GRCh37]
Chr14:14q11.2
likely pathogenic|uncertain significance
GRCh37/hg19 14q11.2(chr14:20511672-21174548)x3 copy number gain not provided [RCV000846276] Chr14:20511672..21174548 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.78A>G (p.Gln26=) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000798138] Chr14:20472374 [GRCh38]
Chr14:20940533 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.3(PNP):c.437C>T (p.Pro146Leu) single nucleotide variant not provided [RCV000788367] Chr14:20474924 [GRCh38]
Chr14:20943083 [GRCh37]
Chr14:14q11.2
likely pathogenic
NM_000270.3(PNP):c.547G>T (p.Glu183Ter) single nucleotide variant not provided [RCV000788377] Chr14:20475147 [GRCh38]
Chr14:20943306 [GRCh37]
Chr14:14q11.2
likely pathogenic
NM_000270.3(PNP):c.260T>A (p.Met87Lys) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV000816833] Chr14:20474550 [GRCh38]
Chr14:20942709 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.286-4G>A single nucleotide variant not provided [RCV000897037] Chr14:20474769 [GRCh38]
Chr14:20942928 [GRCh37]
Chr14:14q11.2
likely benign
NM_000270.4(PNP):c.181G>T (p.Val61Leu) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001068226] Chr14:20472477 [GRCh38]
Chr14:20940636 [GRCh37]
Chr14:14q11.2
likely pathogenic
NM_000270.4(PNP):c.645C>T (p.Asp215=) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001114107] Chr14:20475245 [GRCh38]
Chr14:20943404 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.563A>G (p.Gln188Arg) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001202652] Chr14:20475163 [GRCh38]
Chr14:20943322 [GRCh37]
Chr14:14q11.2
uncertain significance
NC_000014.9:g.20477429T>C single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001112832] Chr14:20477429 [GRCh38]
Chr14:20945588 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.635_636delinsCT (p.Leu212Pro) indel Purine-nucleoside phosphorylase deficiency [RCV001218158] Chr14:20475235..20475236 [GRCh38]
Chr14:20943394..20943395 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.49C>T (p.Leu17Phe) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001238261] Chr14:20472345 [GRCh38]
Chr14:20940504 [GRCh37]
Chr14:14q11.2
uncertain significance
NC_000014.9:g.20469375G>A single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001110769] Chr14:20469375 [GRCh38]
Chr14:20937534 [GRCh37]
Chr14:14q11.2
uncertain significance
NC_000014.9:g.20469396C>A single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001110770] Chr14:20469396 [GRCh38]
Chr14:20937555 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.*372G>A single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001110844] Chr14:20476973 [GRCh38]
Chr14:20945132 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.686G>A (p.Arg229Gln) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001110073] Chr14:20476417 [GRCh38]
Chr14:20944576 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.*15G>A single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001110075] Chr14:20476616 [GRCh38]
Chr14:20944775 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.*78T>C single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001110076] Chr14:20476679 [GRCh38]
Chr14:20944838 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.*178C>T single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001110077] Chr14:20476779 [GRCh38]
Chr14:20944938 [GRCh37]
Chr14:14q11.2
likely benign
NM_000270.4(PNP):c.231C>T (p.Ala77=) single nucleotide variant not provided [RCV000941049] Chr14:20474521 [GRCh38]
Chr14:20942680 [GRCh37]
Chr14:14q11.2
likely benign
NM_000270.4(PNP):c.597C>T (p.Ser199=) single nucleotide variant not provided [RCV000931774] Chr14:20475197 [GRCh38]
Chr14:20943356 [GRCh37]
Chr14:14q11.2
likely benign
NC_000014.9:g.20477351T>A single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001112831] Chr14:20477351 [GRCh38]
Chr14:20945510 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.286-5C>T single nucleotide variant not provided [RCV000912628] Chr14:20474768 [GRCh38]
Chr14:20942927 [GRCh37]
Chr14:14q11.2
likely benign
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 copy number gain not provided [RCV001006605] Chr14:20511672..44829030 [GRCh37]
Chr14:14q11.2-21.2
pathogenic
NM_000270.4(PNP):c.718C>T (p.Leu240Phe) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001110074] Chr14:20476449 [GRCh38]
Chr14:20944608 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.*316C>T single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001110843] Chr14:20476917 [GRCh38]
Chr14:20945076 [GRCh37]
Chr14:14q11.2
uncertain significance
NC_000014.9:g.20477161G>A single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001110845] Chr14:20477161 [GRCh38]
Chr14:20945320 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.751del (p.Ser251fs) deletion Purine-nucleoside phosphorylase deficiency [RCV001048764] Chr14:20476480 [GRCh38]
Chr14:20944639 [GRCh37]
Chr14:14q11.2
uncertain significance
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 copy number gain not provided [RCV001249358] Chr14:20511672..42881888 [GRCh37]
Chr14:14q11.2-21.1
not provided
NM_000270.4(PNP):c.844A>G (p.Ile282Val) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001042359] Chr14:20476575 [GRCh38]
Chr14:20944734 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.12-7C>A single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001112755] Chr14:20472301 [GRCh38]
Chr14:20940460 [GRCh37]
Chr14:14q11.2
uncertain significance
NC_000014.9:g.20477440T>C single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001114180] Chr14:20477440 [GRCh38]
Chr14:20945599 [GRCh37]
Chr14:14q11.2
likely benign
NC_000014.9:g.20477545G>A single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001114181] Chr14:20477545 [GRCh38]
Chr14:20945704 [GRCh37]
Chr14:14q11.2
likely benign
NM_000270.4(PNP):c.397C>T (p.Arg133Cys) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001202237] Chr14:20474884 [GRCh38]
Chr14:20943043 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.476T>A (p.Phe159Tyr) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001059792] Chr14:20475076 [GRCh38]
Chr14:20943235 [GRCh37]
Chr14:14q11.2
uncertain significance
NM_000270.4(PNP):c.436C>A (p.Pro146Thr) single nucleotide variant Purine-nucleoside phosphorylase deficiency [RCV001064183] Chr14:20474923 [GRCh38]
Chr14:20943082 [GRCh37]
Chr14:14q11.2
uncertain significance
GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1 copy number loss not provided [RCV001259176] Chr14:20511672..21915516 [GRCh37]
Chr14:14q11.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7892 AgrOrtholog
COSMIC PNP COSMIC
Ensembl Genes ENSG00000198805 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000354532 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000450663 UniProtKB/TrEMBL
  ENSP00000451108 UniProtKB/TrEMBL
  ENSP00000452421 UniProtKB/TrEMBL
Ensembl Transcript ENST00000361505 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000553418 UniProtKB/TrEMBL
  ENST00000553591 UniProtKB/TrEMBL
  ENST00000554065 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1580 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198805 GTEx
HGNC ID HGNC:7892 ENTREZGENE
Human Proteome Map PNP Human Proteome Map
InterPro Nucleoside_phosphorylase_d UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleoside_phosphorylase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pur_Nuc_Pase_Ino/Guo-sp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Purine_phosphorylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Purine_phosphorylase-2_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4860 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4860 ENTREZGENE
OMIM 164050 OMIM
  613179 OMIM
PANTHER PTHR11904 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PNP_UDP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31694 PharmGKB
PIRSF PurNPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PNP_MTAP_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53167 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs PNPH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PNPH-PUNA-XAPA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt G3V2H3_HUMAN UniProtKB/TrEMBL
  G3V393_HUMAN UniProtKB/TrEMBL
  G3V5M2_HUMAN UniProtKB/TrEMBL
  P00491 ENTREZGENE, UniProtKB/Swiss-Prot
  V9HWH6 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B2R8S5 UniProtKB/Swiss-Prot
  D3DS00 UniProtKB/Swiss-Prot
  Q15160 UniProtKB/Swiss-Prot
  Q5PZ03 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-08-16 PNP  purine nucleoside phosphorylase  PNP  purine nucleoside phosphorylase  Symbol and/or name change 5135510 APPROVED
2011-07-27 PNP  purine nucleoside phosphorylase  NP  nucleoside phosphorylase  Symbol and/or name change 5135510 APPROVED