SZGR2

Summary ?

GeneID	5635
Symbol	PRPSAP1
Synonyms	PAP39
Description	phosphoribosyl pyrophosphate synthetase-associated protein 1
Reference	MIM:601249\|HGNC:HGNC:9466\|HPRD:03151\|
Gene type	protein-coding
Map location	17q24-q25
Pascal p-value	0.018
Sherlock p-value	0.756
Fetal beta	0.828
DMG	1 (# studies)
eGene	Anterior cingulate cortex BA24 Cerebellar Hemisphere Cerebellum Cortex Frontal Cortex BA9 Nucleus accumbens basal ganglia Putamen basal ganglia Myers' cis & trans Meta

Gene in Data Sources

Gene set name	Method of gene set	Description	Info
CV:PGCnp	Genome-wide Association Study	GWAS
DMG:Jaffe_2016	Genome-wide DNA methylation analysis	This dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05.	1

Section I. Genetics and epigenetics annotation

Differentially methylated gene

Probe	Chromosome	Position	Nearest gene	P (dis)	Beta (dis)	FDR (dis)	Study
cg14816748	17	74349897	PRPSAP1	1.05E-7	-0.008	2.3E-5	DMG:Jaffe_2016

eQTL annotation

SNP ID	Chromosome	Position	eGene	Gene Entrez ID	pvalue	qvalue	TSS distance	eQTL type
rs346790	chr17	74300294	PRPSAP1	5635		0.02		cis
rs447294	chr17	74308124	PRPSAP1	5635		0.06		cis
rs421578	chr17	74314772	PRPSAP1	5635		0.01		cis
rs164009	17	74283669	PRPSAP1	ENSG00000161542.12	1.679E-6	0.01	67341	gtex_brain_ba24
rs346785	17	74283769	PRPSAP1	ENSG00000161542.12	1.679E-6	0.01	67241	gtex_brain_ba24
rs4789272	17	74285783	PRPSAP1	ENSG00000161542.12	1.655E-6	0.01	65227	gtex_brain_ba24
rs17509527	17	74286173	PRPSAP1	ENSG00000161542.12	1.679E-6	0.01	64837	gtex_brain_ba24
rs164106	17	74290566	PRPSAP1	ENSG00000161542.12	1.677E-6	0.01	60444	gtex_brain_ba24
rs2945453	17	74291158	PRPSAP1	ENSG00000161542.12	9.946E-7	0.01	59852	gtex_brain_ba24
rs186985	17	74293388	PRPSAP1	ENSG00000161542.12	1.044E-6	0.01	57622	gtex_brain_ba24
rs4789276	17	74294598	PRPSAP1	ENSG00000161542.12	4.715E-7	0.01	56412	gtex_brain_ba24
rs12603578	17	74296079	PRPSAP1	ENSG00000161542.12	3.307E-7	0.01	54931	gtex_brain_ba24
rs2585747	17	74298257	PRPSAP1	ENSG00000161542.12	1.27E-7	0.01	52753	gtex_brain_ba24
rs443970	17	74303370	PRPSAP1	ENSG00000161542.12	1.198E-6	0.01	47640	gtex_brain_ba24
rs379503	17	74308358	PRPSAP1	ENSG00000161542.12	5.083E-7	0.01	42652	gtex_brain_ba24
rs2279057	17	74309425	PRPSAP1	ENSG00000161542.12	5.615E-7	0.01	41585	gtex_brain_ba24
rs2279056	17	74309474	PRPSAP1	ENSG00000161542.12	5.615E-7	0.01	41536	gtex_brain_ba24
rs407281	17	74311343	PRPSAP1	ENSG00000161542.12	5.942E-7	0.01	39667	gtex_brain_ba24
rs446662	17	74313542	PRPSAP1	ENSG00000161542.12	9.371E-7	0.01	37468	gtex_brain_ba24
rs186985	17	74293388	PRPSAP1	ENSG00000161542.12	2.192E-7	0	57622	gtex_brain_putamen_basal
rs4789276	17	74294598	PRPSAP1	ENSG00000161542.12	3.63E-7	0	56412	gtex_brain_putamen_basal
rs12603578	17	74296079	PRPSAP1	ENSG00000161542.12	2.011E-6	0	54931	gtex_brain_putamen_basal
rs379503	17	74308358	PRPSAP1	ENSG00000161542.12	2.546E-7	0	42652	gtex_brain_putamen_basal
rs2279057	17	74309425	PRPSAP1	ENSG00000161542.12	2.966E-7	0	41585	gtex_brain_putamen_basal
rs2279056	17	74309474	PRPSAP1	ENSG00000161542.12	2.966E-7	0	41536	gtex_brain_putamen_basal
rs407281	17	74311343	PRPSAP1	ENSG00000161542.12	2.414E-7	0	39667	gtex_brain_putamen_basal
rs446662	17	74313542	PRPSAP1	ENSG00000161542.12	2.36E-6	0	37468	gtex_brain_putamen_basal

Section II. Transcriptome annotation

General gene expression (GTEx)

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions

Section IV. Protein-protein interaction annotation

Interactors	Aliases B	Official full name B	Experimental	Source	PubMed ID
CD2BP2	FWP010 \| LIN1 \| Snu40 \| U5-52K	CD2 (cytoplasmic tail) binding protein 2	Affinity Capture-MS	BioGRID	17353931
ILK	DKFZp686F1765 \| P59	integrin-linked kinase	Affinity Capture-MS	BioGRID	17353931
NUAK1	ARK5 \| KIAA0537	NUAK family, SNF1-like kinase, 1	Affinity Capture-MS	BioGRID	17353931
PLEKHF2	FLJ13187 \| PHAFIN2 \| ZFYVE18	pleckstrin homology domain containing, family F (with FYVE domain) member 2	Two-hybrid	BioGRID	16189514
PRKRA	DYT16 \| HSD14 \| PACT \| RAX	protein kinase, interferon-inducible double stranded RNA dependent activator	Affinity Capture-MS	BioGRID	17353931
PRPS1	ARTS \| CMTX5 \| KIAA0967 \| PPRibP \| PRSI	phosphoribosyl pyrophosphate synthetase 1	-	HPRD,BioGRID	9366267
PRPS2	PRSII	phosphoribosyl pyrophosphate synthetase 2	-	HPRD,BioGRID	9366267
PRPSAP1	PAP39	phosphoribosyl pyrophosphate synthetase-associated protein 1	Two-hybrid	BioGRID	16189514
PSPH	PSP	phosphoserine phosphatase	Affinity Capture-MS	BioGRID	17353931
PTP4A3	PRL-3 \| PRL-R \| PRL3	protein tyrosine phosphatase type IVA, member 3	Affinity Capture-MS	BioGRID	17353931
TMBIM4	CGI-119 \| GAAP \| S1R \| ZPRO	transmembrane BAX inhibitor motif containing 4	Affinity Capture-MS	BioGRID	17353931

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
RHEIN ALL GLUCOCORTICOID THERAPY DN	362	238	All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE FIMA DN	284	156	All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER DN	232	154	All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN	1781	1082	All SZGR 2.0 genes in this pathway
PATIL LIVER CANCER	747	453	All SZGR 2.0 genes in this pathway
GRUETZMANN PANCREATIC CANCER DN	203	134	All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN DN	584	395	All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS DN	848	527	All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS DN	1024	594	All SZGR 2.0 genes in this pathway
BENPORATH SOX2 TARGETS	734	436	All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS	775	494	All SZGR 2.0 genes in this pathway
BENPORATH CYCLING GENES	648	385	All SZGR 2.0 genes in this pathway
SANSOM APC TARGETS DN	366	238	All SZGR 2.0 genes in this pathway
MENSE HYPOXIA UP	98	71	All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS EARLY PROGENITOR	532	309	All SZGR 2.0 genes in this pathway
RAMALHO STEMNESS UP	206	118	All SZGR 2.0 genes in this pathway
DEBIASI APOPTOSIS BY REOVIRUS INFECTION DN	287	208	All SZGR 2.0 genes in this pathway
ZAMORA NOS2 TARGETS DN	96	71	All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 3	720	440	All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED	1229	713	All SZGR 2.0 genes in this pathway
STEIN ESRRA TARGETS UP	388	234	All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP	863	514	All SZGR 2.0 genes in this pathway
STEIN ESRRA TARGETS	535	325	All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC	1103	714	All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE G2 M	216	124	All SZGR 2.0 genes in this pathway
KIM BIPOLAR DISORDER OLIGODENDROCYTE DENSITY CORR UP	682	440	All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS CALB1 CORR UP	548	370	All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN	1972	1213	All SZGR 2.0 genes in this pathway

Gene Page: PRPSAP1