PNP (purine nucleoside phosphorylase)

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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 ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Pnp2 (purine-nucleoside phosphorylase 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Pnp (purine nucleoside phosphorylase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Pnp (purine nucleoside phosphorylase)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	PNP (purine nucleoside phosphorylase)	NCBI	Ortholog
Canis lupus familiaris (dog):	PNP (purine nucleoside phosphorylase)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Pnp (purine nucleoside phosphorylase)	NCBI	Ortholog
Sus scrofa (pig):	PNP (purine nucleoside phosphorylase)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (African green monkey):	LOC103231345 (purine nucleoside phosphorylase)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Pnp (purine nucleoside phosphorylase)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Pnp (purine-nucleoside phosphorylase)	HGNC	Ensembl, HGNC, HomoloGene, NCBI, OMA, OrthoDB, Panther, Treefam
Canis lupus familiaris (dog):	MTAP (methylthioadenosine phosphorylase)	HGNC	Inparanoid
Alliance orthologs ³
Mus musculus (house mouse):	Pnp (purine-nucleoside phosphorylase)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Rattus norvegicus (Norway rat):	Pnp (purine nucleoside phosphorylase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Mus musculus (house mouse):	Pnp2 (purine-nucleoside phosphorylase 2)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam)
Danio rerio (zebrafish):	pnp5a (purine nucleoside phosphorylase 5a)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Danio rerio (zebrafish):	pnp4a (purine nucleoside phosphorylase 4a)	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PhylomeDB\|Roundup\|TreeFam)
Danio rerio (zebrafish):	pnp4b (purine nucleoside phosphorylase 4b)	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|TreeFam)
Danio rerio (zebrafish):	pnp6 (purine nucleoside phosphorylase 6)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Drosophila melanogaster (fruit fly):	CG16758	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|Roundup\|TreeFam)
Caenorhabditis elegans (roundworm):	K02D7.1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup)
Saccharomyces cerevisiae (baker's yeast):	PNP1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Drosophila melanogaster (fruit fly):	CG18128	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|TreeFam)

Related Pseudogenes:

PNPP1

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	14	20,468,954 - 20,477,089 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	14	20,468,954 - 20,477,094 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	14	20,469,406 - 20,477,089 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	14	20,937,538 - 20,946,165 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
GRCh37	14	20,937,565 - 20,945,248 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	20,007,382 - 20,015,088 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	14	20,007,404 - 20,015,039	NCBI
Celera	14	798,688 - 807,315 (+)	NCBI
Cytogenetic Map	14	q11.2	NCBI
HuRef	14	1,059,149 - 1,067,777 (+)	NCBI		HuRef
CHM1_1	14	20,938,918 - 20,947,545 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Arsenic Poisoning (EXP)

Chemical and Drug Induced Liver Injury (EXP)

COVID-19 (HEP)

osteoporosis (EXP)

purine nucleoside phosphorylase deficiency (EXP,IAGP)

purine-pyrimidine metabolic disorder (IAGP)

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)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

dAMP catabolic process (IDA)

immune response (IMP)

IMP catabolic process (IDA)

inosine catabolic process (IDA)

neutrophil degranulation (TAS)

nicotinamide riboside catabolic process (IDA)

nucleobase-containing compound metabolic process (IDA)

nucleoside metabolic process (IEA)

nucleotide biosynthetic process (IGI)

positive regulation of alpha-beta T cell differentiation (IDA)

positive regulation of interleukin-2 production (IMP)

positive regulation of T cell proliferation (IDA)

purine nucleoside metabolic process (ISO)

purine nucleotide catabolic process (TAS)

purine ribonucleoside salvage (IEA)

purine-containing compound salvage (IDA,TAS)

response to drug (IMP)

urate biosynthetic process (IDA)

Cellular Component

cytoplasm (IBA,IDA,ISO)

cytosol (IDA,TAS)

extracellular exosome (HDA)

extracellular region (ISO,TAS)

ficolin-1-rich granule lumen (TAS)

nucleus (IEA,ISO)

secretory granule lumen (TAS)

Molecular Function

guanosine phosphorylase activity (IEA)

identical protein binding (IPI)

nucleoside binding (IDA)

phosphate ion binding (IDA)

protein binding (IPI)

purine nucleobase binding (IDA)

purine-nucleoside phosphorylase activity (IBA,IDA,IEA,ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

adenine phoshoribosyltransferase deficiency pathway (EXP)

adenosine monophosphate deaminase deficiency pathway (EXP)

adenylosuccinate lyase deficiency pathway (EXP)

AICA-ribosuria pathway (EXP)

azathioprine pharmacodynamics pathway (EXP)

Kelley-Seegmiller syndrome pathway (EXP)

Lesch-Nyhan syndrome pathway (EXP)

mercaptopurine pharmacodynamics pathway (EXP)

molybdenum cofactor deficiency pathway (EXP)

monoterpenoid biosynthetic pathway (IEA)

niacin metabolic pathway (EXP,IEA)

purine metabolic pathway (EXP,IEA)

purine nucleoside phosphorylase deficiency pathway (EXP)

pyrimidine metabolic pathway (IEA)

tioguanine pharmacodynamics pathway (EXP)

xanthinuria type I pathway (EXP)

xanthinuria pathway (EXP)

xanthinuria type II pathway (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

References - curated


1.	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline
3.	Pipeline to import KEGG annotations from KEGG into RGD
4.	Pipeline to import SMPDB annotations from SMPDB into RGD
5.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	RGD automated import pipeline for gene-chemical interactions
7.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8.	Williams SR, etal., J Biol Chem. 1987 Feb 15;262(5):2332-8.
9.	Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	14	20,468,954 - 20,477,089 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	14	20,468,954 - 20,477,094 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	14	20,469,406 - 20,477,089 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	14	20,937,538 - 20,946,165 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
GRCh37	14	20,937,565 - 20,945,248 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	20,007,382 - 20,015,088 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	14	20,007,404 - 20,015,039	NCBI
Celera	14	798,688 - 807,315 (+)	NCBI
Cytogenetic Map	14	q11.2	NCBI
HuRef	14	1,059,149 - 1,067,777 (+)	NCBI		HuRef
CHM1_1	14	20,938,918 - 20,947,545 (+)	NCBI		CHM1_1

Pnp2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	14	51,193,598 - 51,202,206 (+)	NCBI	GRCm39		mm39
GRCm38	14	50,956,141 - 50,964,751 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	14	50,955,992 - 50,964,749 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	14	51,575,816 - 51,584,424 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	14	49,877,941 - 49,888,626 (+)	NCBI			mm8
Cytogenetic Map	14	C1	NCBI

Pnp
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	15	24,170,456 - 24,178,274 (+)	NCBI
Rnor_6.0 Ensembl	15	27,875,911 - 27,883,350 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	15	27,875,883 - 27,883,566 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	15	31,708,604 - 31,716,285 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	15	26,929,784 - 26,937,434 (+)	NCBI	RGSC3.4		rn4	RGSC3.4
Celera	15	24,490,737 - 24,498,388 (+)	NCBI		Celera
Cytogenetic Map	15	p14	NCBI

Pnp
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955550	1,290,244 - 1,298,068 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955550	1,290,816 - 1,299,553 (+)	NCBI	ChiLan1.0	ChiLan1.0

PNP
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	14	19,396,114 - 19,403,907 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	14	19,396,114 - 19,403,907 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	14	1,343,921 - 1,351,670 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

PNP
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	15	17,808,461 - 17,815,676 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	15	17,808,454 - 17,815,987 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Pnp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936877	686,539 - 692,832 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PNP
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	78,424,740 - 78,446,997 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	78,426,838 - 78,447,029 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	83,454,669 - 83,474,828 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3
Pig Cytomap	7	q21-qter	NCBI

LOC103231345
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	29	20,992,892 - 21,001,400 (+)	NCBI
ChlSab1.1 Ensembl	29	20,993,280 - 21,001,606 (+)	Ensembl

Pnp
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624825	4,688,662 - 4,699,912 (-)	NCBI

Position Markers

humpnu2

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	20,940,508 - 20,940,684	UniSTS	GRCh37
Build 36	14	20,010,348 - 20,010,524	RGD	NCBI36
Celera	14	801,658 - 801,834	RGD
Cytogenetic Map	14	q13.1	UniSTS
HuRef	14	1,062,120 - 1,062,296	UniSTS
GeneMap99-GB4 RH Map	14	3.33	UniSTS

SHGC-78026

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	20,940,802 - 20,941,110	UniSTS	GRCh37
Build 36	14	20,010,642 - 20,010,950	RGD	NCBI36
Celera	14	801,952 - 802,260	RGD
Cytogenetic Map	14	q13.1	UniSTS
HuRef	14	1,062,414 - 1,062,722	UniSTS
TNG Radiation Hybrid Map	14	296.0	UniSTS

GDB:181553

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	20,942,540 - 20,942,883	UniSTS	GRCh37
Build 36	14	20,012,380 - 20,012,723	RGD	NCBI36
Celera	14	803,690 - 804,033	RGD
Cytogenetic Map	14	q13.1	UniSTS
HuRef	14	1,064,152 - 1,064,495	UniSTS

RH78901

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	20,944,912 - 20,945,065	UniSTS	GRCh37
Build 36	14	20,014,752 - 20,014,905	RGD	NCBI36
Celera	14	806,062 - 806,215	RGD
Cytogenetic Map	14	q13.1	UniSTS
HuRef	14	1,066,524 - 1,066,677	UniSTS
GeneMap99-GB4 RH Map	14	3.84	UniSTS
NCBI RH Map	14	12.0	UniSTS

SHGC-31518

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	20,944,784 - 20,945,001	UniSTS	GRCh37
Build 36	14	20,014,624 - 20,014,841	RGD	NCBI36
Celera	14	805,934 - 806,151	RGD
Cytogenetic Map	14	q13.1	UniSTS
HuRef	14	1,066,396 - 1,066,613	UniSTS
TNG Radiation Hybrid Map	14	312.0	UniSTS
Stanford-G3 RH Map	14	39.0	UniSTS
NCBI RH Map	14	8.6	UniSTS
GeneMap99-G3 RH Map	14	39.0	UniSTS

RH18070

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	20,944,976 - 20,945,098	UniSTS	GRCh37
Build 36	14	20,014,816 - 20,014,938	RGD	NCBI36
Celera	14	806,126 - 806,248	RGD
Cytogenetic Map	14	q13.1	UniSTS
HuRef	14	1,066,588 - 1,066,710	UniSTS
GeneMap99-GB4 RH Map	14	3.33	UniSTS

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	20,942,936 - 20,943,044	UniSTS	GRCh37
Celera	14	804,086 - 804,194	UniSTS
HuRef	14	1,064,548 - 1,064,656	UniSTS

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR1-1	hsa-miR-1	Mirtarbase	external_info	Luciferase reporter assay//Western blot	Functional MTI	22068816
MIR1-1	hsa-miR-1	OncomiRDB	external_info	NA	NA	22068816

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

1200

1854

Low

543

727

138

946

1427

1415

431

933

Below cutoff

View RNA-SEQ Expression Data

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 Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	14	20,469,406 - 20,477,089 (+)	Ensembl

RefSeq Acc Id:

ENST00000553418 ⟹ ENSP00000450663

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	14	20,468,954 - 20,474,571 (+)	Ensembl

RefSeq Acc Id:

ENST00000553591 ⟹ ENSP00000452421

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	14	20,469,541 - 20,475,146 (+)	Ensembl

RefSeq Acc Id:

ENST00000554056

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	14	20,469,414 - 20,477,058 (+)	Ensembl

RefSeq Acc Id:

ENST00000554065 ⟹ ENSP00000451108

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	14	20,470,526 - 20,474,908 (+)	Ensembl

RefSeq Acc Id:

ENST00000556293

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	14	20,469,406 - 20,473,200 (+)	Ensembl

RefSeq Acc Id:

ENST00000556754

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	14	20,473,384 - 20,477,087 (+)	Ensembl

RefSeq Acc Id:

ENST00000557229

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	14	20,469,406 - 20,475,163 (+)	Ensembl

RefSeq Acc Id:

NM_000270 ⟹ NP_000261

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	20,469,406 - 20,477,089 (+)	NCBI
GRCh37	14	20,937,538 - 20,946,165 (+)	ENTREZGENE
Build 36	14	20,007,382 - 20,015,088 (+)	NCBI Archive
HuRef	14	1,059,149 - 1,067,777 (+)	ENTREZGENE
CHM1_1	14	20,938,918 - 20,947,545 (+)	NCBI

Sequence:

show sequence

ATAAGCCAGAGCCTAGACCAGTGAGCCAACTGTGCGAACCAGACCCGGCAGCCTTGCTCAGTTC
AGCATAGCGGAGCGGATCCGATCGGATCGGAGCGGATCGGAGCACACCGGAGCAGGCTCATCGA
GAAGGCGTCTGCGAGACCATGGAGAACGGATACACCTATGAAGATTATAAGAACACTGCAGAAT
GGCTTCTGTCTCACACTAAGCACCGACCTCAAGTTGCAATAATCTGTGGTTCTGGATTAGGAGG
TCTGACTGATAAATTAACTCAGGCCCAGATCTTTGACTACGGTGAAATCCCCAACTTTCCCCGA
AGTACAGTGCCAGGTCATGCTGGCCGACTGGTGTTTGGGTTCCTGAATGGCAGGGCCTGTGTGA
TGATGCAGGGCAGGTTCCACATGTATGAAGGGTACCCACTCTGGAAGGTGACATTCCCAGTGAG
GGTTTTCCACCTTCTGGGTGTGGACACCCTGGTAGTCACCAATGCAGCAGGAGGGCTGAACCCC
AAGTTTGAGGTTGGAGATATCATGCTGATCCGTGACCATATCAACCTACCTGGTTTCAGTGGTC
AGAACCCTCTCAGAGGGCCCAATGATGAAAGGTTTGGAGATCGTTTCCCTGCCATGTCTGATGC
CTACGACCGGACTATGAGGCAGAGGGCTCTCAGTACCTGGAAACAAATGGGGGAGCAACGTGAG
CTACAGGAAGGCACCTATGTGATGGTGGCAGGCCCCAGCTTTGAGACTGTGGCAGAATGTCGTG
TGCTGCAGAAGCTGGGAGCAGACGCTGTTGGCATGAGTACAGTACCAGAAGTTATCGTTGCACG
GCACTGTGGACTTCGAGTCTTTGGCTTCTCACTCATCACTAACAAGGTCATCATGGATTATGAA
AGCCTGGAGAAGGCCAACCATGAAGAAGTCTTAGCAGCTGGCAAACAAGCTGCACAGAAATTGG
AACAGTTTGTCTCCATTCTTATGGCCAGCATTCCACTCCCTGACAAAGCCAGTTGACCTGCCTT
GGAGTCGTCTGGCATCTCCCACACAAGACCCAAGTAGCTGCTACCTTCTTTGGCCCCTTGCTGG
AGTCATGTGCCTCTGTCCTTAGGTTGTAGCAGAAAGGAAAAGATTCCTGTCCTTCACCTTTCCC
ACTTTCTTCTACCAGACCCTTCTGGTGCCAGATCCTCTTCTCAAAGCTGGGATTACAGGTGTGA
GCATAGTGAGACCTTGGCGCTACAAAATAAAGCTGTTCTCATTCCTGTTCTTTCTTACACAAGA
GCTGGAGCCCGTGCCCTACCACACATCTGTGGAGATGCCCAGGATTTGACTCGGGCCTTAGAAC
TTTGCATAGCAGCTGCTACTAGCTCTTTGAGATAATACATTCCGAGGGGCTCAGTTCTGCCTTA
TCTAAATCACCAGAGACCAAACAAGGACTAATCCAATACCTCTTGGATTTTATTTAATGTCATA
ATGTTGTCAGAATAAAGAGAAAGATGAAATAATTTCATTTTTTTGTGTAACTTGGTATGGGGCT
GGGGCACAGACCAAGATTGACATGAAAGGATGTGAGATCGCATGTCTTGTGTGACTATCTGCTT
CTCAGACAAGCAGTTAGGAACTGAGATGAGATAGTATGTGAGGGCAGCAAAGGATGAAGAAGGG
CAAAATGATGAAAGGTGAGGTGGAAAGAGGTTATGAGATGGTAAAGAAAAGTTAACTTCTGGCA
CTTGATTGCCACTTCTGTCAGGCTGGTCCTGCCTCTCTCCCTTGCCTTCTGATTGTTTCATTTC
CTGTTTATTTGATCATATCTGAATTAGTTCACTGGTTAGCCTCTTCCTTAGTTCCCACTTCCTT
ACCAAAGCCCTAATTATATTTCCTCTTGTTTGCCTTTTCTCTCCTACTCTTCTCTAACATCTGC
AGCCACACTCTCCATTCACTCCATGCTGACAAGGCAGTGGCAAACACTTTTCTCTGCTGCCAGC
CACTCCACTGTTGACTGGATTGCTGCCAGCCCCAGGCAAACCTGTGAAGTTGTTTCATACTCTG
CTTCTCTTTGAGTGCCTCCTTCTCTCCTTCCTCTTCCTTTCTGGGCTCCAGTCTTTCTCTTCAC
TTGTGCTTGTCAGAACCTCCCTGTGATACTGCCTCCAGGCATTTCCCCCATGTTGGCTCACCGC
ACTATTATCTTTGCTTATCAACTTGCATTCAGCTGGCTGGCATGTTTCAAAACCACACTGCCCT
CCCAGGCCTGTGTGCCTTTTGAGAAAGACCAGTGCTGGATGAGCCTCTAGTAATGACAACATTT
TAGTTGTTAGTGGTATAATACGGAAGAGATATTTTGCACAGGCTGCTTTGGAGAACTTTCAAAT
TATCCTTTGTTTGGTAACTGACCTACTTAACTGCCCAATACAAAGAAAAAGCAAAAAAAAAAAA
AAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_000261	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA36460	(Get FASTA)	NCBI Sequence Viewer
	AAI04207	(Get FASTA)	NCBI Sequence Viewer
	AAI04208	(Get FASTA)	NCBI Sequence Viewer
	AAI06075	(Get FASTA)	NCBI Sequence Viewer
	AAV68044	(Get FASTA)	NCBI Sequence Viewer
	ACJ13703	(Get FASTA)	NCBI Sequence Viewer
	BAC05327	(Get FASTA)	NCBI Sequence Viewer
	BAG36272	(Get FASTA)	NCBI Sequence Viewer
	CAA25320	(Get FASTA)	NCBI Sequence Viewer
	CAG28535	(Get FASTA)	NCBI Sequence Viewer
	EAW66458	(Get FASTA)	NCBI Sequence Viewer
	EAW66459	(Get FASTA)	NCBI Sequence Viewer
	P00491	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_000261 ⟸ NM_000270

- UniProtKB:

P00491 (UniProtKB/Swiss-Prot), V9HWH6 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MENGYTYEDYKNTAEWLLSHTKHRPQVAIICGSGLGGLTDKLTQAQIFDYGEIPNFPRSTVPGH
AGRLVFGFLNGRACVMMQGRFHMYEGYPLWKVTFPVRVFHLLGVDTLVVTNAAGGLNPKFEVGD
IMLIRDHINLPGFSGQNPLRGPNDERFGDRFPAMSDAYDRTMRQRALSTWKQMGEQRELQEGTY
VMVAGPSFETVAECRVLQKLGADAVGMSTVPEVIVARHCGLRVFGFSLITNKVIMDYESLEKAN
HEEVLAAGKQAAQKLEQFVSILMASIPLPDKAS

hide 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 Assembly	Chr	Position (strand)	Source
Build 36	14	20,007,224 - 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 Assembly	Chr	Position (strand)	Source
Build 36	14	20,007,405 - 20,007,465	EPD

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 Assembly	Chr	Position (strand)	Source
GRCh38	14	20,469,406 - 20,469,466	EPDNEW

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

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)