SZGR2 - Beplay体育中心

Summary?

基因	5371
象征	PML
同义词	MYL\|PP8675\|RNF71\|TRIM19
描述	Promyelocytic白血病
参考	MIM：102578\|HGNC:HGNC:9113\|Ensembl:ENSG00000140464\|HPRD:00023\|Vega：Otthumg00000137607
基因type	protein-coding
地图位置	15Q22
Pascal P值	0.329
TADA P值	0.019
Fetal beta	-0.311
支持	CompositeSet

基因in Data Sources

基因set name	基因组方法	描述	Info
简历：PGCNP	全基因组协会研究	GWAS
DNM：XU_2012	整个外显子组测序分析	De novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study
PMID:cooccur	高通量文献搜索	Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
Literature	高通量文献搜索	Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenics,schizophrenias	Click to show details
网络	Shortest path distance of core genes in the Human protein-protein interaction network	Contribution to shortest path in PPI network: 0.0455

Section I. Genetics and epigenetics annotation

DNM table

基因	Chromosome	Position	Ref	Alt	Transcript	AA更改	突变类型	筛	CG46	Trait	Study
PML	CHR15	74290439	C	T	NM_002675 NM_033238 NM_033239 NM_033240 NM_033244 NM_033246 NM_033247 NM_033249 NM_033250	p.75t> m p.75t> m p.75t> m p.75t> m p.75t> m p.75t> m p.75t> m p.75t> m p.75t> m	missense missense missense missense missense missense missense missense missense			Schizophrenia	DNM：XU_2012

Section II. Transcriptome annotation

基因ral gene expression (GTEx)

Devlopment期间的基因表达（BrainCloud）

Footnote:
总共绘制了269个时间点，n = 38个胎儿样品（x = 1：38）。每个三角形代表一个时间点。

基因expression of temporal and spatial changes (BrainSpan)

Footnote:
SC：亚皮质区域；SM：感觉运动区域；FC：额叶皮层；和TP：颞顶皮层
ST1：胎儿（13-26个概念后周），ST2：婴儿早期至童年（4个月至11年）和ST3：青春期至成年期（13-23年）
The bar shown representes the lower 25% and upper 25% of the expression distribution.

大脑区域没有共表达基因

Section III. Gene Ontology annotation

分子功能	GO term	Evidence	Neuro keywords	PubMed ID
GO:0003676	核酸结合	NAS		1652369
GO:0003677	DNA结合	IEA		-
GO:0005515	protein binding	IEA		-
GO:0005515	protein binding	IPI		9294197\|9671405\|11259576 \|11432836\|12915590 \|14976184\|15626733 \|16915281
去：0008270	锌离子结合	IEA		-
去：0008270	锌离子结合	NAS		1652369
GO:0016564	transcription repressor activity	艾达		11432836
GO:0032183	相扑结合	IPI		17081985
GO：0046872	金属离子结合	IEA		-
生物过程	GO term	Evidence	Neuro keywords	PubMed ID
去：0001666	对缺氧的反应	艾达		16915281
去：0006355	regulation of transcription, DNA-dependent	IEA		-
去：0006461	protein complex assembly	艾达		12915590
去：0006281	DNA修复	NAS		12773567
GO:0006917	induction of apoptosis	IMP		16912307
GO：0010212	response to ionizing radiation	艾达		12773567
GO:0006977	DNA损伤响应，p53类介体的信号转导导致细胞周期停滞	ISS		-
GO:0016481	negative regulation of transcription	艾达		9448006
GO:0016525	negative regulation of angiogenesis	IMP		16915281
GO:0042771	DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis	ISS		-
GO:0030308	细胞生长的负调控	艾达		9448006
去：0030578	PML身体组织	IMP		17081985
GO：0044419	生物之间的种间相互作用	IEA		-
GO：0051457	维持蛋白质位置	艾达		17332504
细胞分量	GO term	Evidence	Neuro keywords	PubMed ID
GO:0005622	intracellular	IEA		-
GO:0005626	insoluble fraction	艾达		12915590
GO:0005634	核	IEA		-
GO:0005654	核质	艾达		12915590
GO:0005730	核仁	艾达		15195100
GO:0005737	cytoplasm	艾达		16778193
GO:0005737	cytoplasm	IEA		-
GO：0016605	PML身体	艾达		9448006\|17081985
GO：0016605	PML身体	艾达		10910364

Section IV. Protein-protein interaction annotation

Interactors	Aliases B	Official full name B	Experimental	Source	PubMed ID
ankrd2	ARPP \| MGC104314	Ankyrin重复域2（拉伸响应肌肉）	-	HPRD，Biogrid	15136035
arnt	hif-1beta \|HIF1B \|hif1beta \|探戈\|bhlhe2	芳基烃受体核转运剂	-	HPRD，Biogrid	12354770
ATF2	CRE-BP1 \|creb2 \|HB16 \|MGC111558 \|Treb7	激活转录因子2	Reconstituted Complex	BioGRID	9671405
Atr	FRP1 \| MEC1 \| SCKL \| SCKL1	ataxia telangiectasia and Rad3 related	Atrphosphorylates PML.	BIND	15195100
AURKA	AIK \| ARK1 \| AURA \| AURORA2 \| BTAK \| MGC34538 \| STK15 \| STK6 \| STK7	Aurora激酶A。	PML3与Aurora A相互作用。	BIND	15749021
BCL6	bcl5 \|bcl6a \|laz3 \|ZBTB27 \|Znf51	B-cell CLL/lymphoma 6	Two-hybrid	BioGRID	11175338
CCNT1	CCNT \|Cyct1	cyclin T1	-	HPRD，Biogrid	12727882
CHFR	FLJ10796 \| FLJ33629 \| RNF116 \| RNF196	checkpoint with forkhead and ring finger domains	CHFR interacts an unspecified isoform of PML.	BIND	15467728
CHFR	FLJ10796 \| FLJ33629 \| RNF116 \| RNF196	checkpoint with forkhead and ring finger domains	-	HPRD，Biogrid	15467728
CREBBP	CBP \|kat3a \|RST	CREB结合蛋白	-	HPRD	10077561\|10610177 \|12142048\|12234245 \|12622724
CREBBP	CBP \|kat3a \|RST	CREB结合蛋白	Affinity Capture-Western Reconstituted Complex	BioGRID	10077561\|10610177 \|12622724
DAXX	BING2 \| DAP6 \| EAP1 \| MGC126245 \| MGC126246	死亡域相关蛋白	-	HPRD	10525530\|10669754 \|10684855\|12595526
DAXX	BING2 \| DAP6 \| EAP1 \| MGC126245 \| MGC126246	死亡域相关蛋白	Affinity Capture-Western 共定位 Two-hybrid	BioGRID	10525530\|10669754 \|10684855\|11244500
EIF4E	CBP \|EIF4E1 \|EIF4EL1 \|EIF4F \|MGC111573	真核翻译起始因子4E	-	HPRD，Biogrid	11500381
FOS	AP-1 \|c-fos	V-FOS FBJ鼠骨肉瘤病毒性癌基因同源物	-	HPRD，Biogrid	9671405
GATA2	MGC2306 \|NFE1B	GATA结合蛋白2	-	HPRD，Biogrid	10938104
HDAC1	DKFZP686H12203 \|gon-10 \|HD1 \|RPD3 \|RPD3L1	组蛋白脱乙酰基酶1	-	HPRD，Biogrid	11259576\|11430826
HDAC2	RPD3 \|yaf1	组蛋白脱乙酰基酶2	-	HPRD，Biogrid	11259576\|11430826
HDAC3	HD3 \| RPD3 \| RPD3-2	组蛋白脱乙酰基酶3	Affinity Capture-Western Reconstituted Complex	BioGRID	11259576
HHEX	HEX \| HMPH \| HOX11L-PEN \| PRH \| PRHX	hematopoietically expressed homeobox	-	HPRD，Biogrid	10597310
JUN	AP-1 \|AP1 \| c-Jun	jun oncogene	-	HPRD，Biogrid	9671405
MAPK11	P38B \| P38BETA2 \| PRKM11 \| SAPK2 \| SAPK2B \| p38-2 \| p38Beta	mitogen-activated protein kinase 11	Affinity Capture-Western Reconstituted Complex	BioGRID	15273249
MAPK14	CSBP1 \| CSBP2 \| CSPB1 \| EXIP \| Mxi2 \| PRKM14 \| PRKM15 \| RK \| SAPK2A \| p38 \| p38ALPHA	mitogen-activated protein kinase 14	-	HPRD	15273249
MDM2	HDMX \|MGC71221 \|HDM2	MDM2 p53结合蛋白同源物（小鼠）	PMLinteracts with Mdm2.	BIND	15195100
MDM2	HDMX \|MGC71221 \|HDM2	MDM2 p53结合蛋白同源物（小鼠）	-	HPRD，Biogrid	12759344\|12915590 \|14507915\|15195100
MXD1	疯狂\|Mad1 \|MGC104659	最大二聚化蛋白1	-	HPRD	11430826
MYB	CMYB \|c-myb \|c-myb_cds \|EFG	v-myb myeloblastosis viral oncogene homolog (avian)	-	HPRD，Biogrid	15194430
MYC	bHLHe39 \| c-Myc	v-myc myelocytomatosis viral oncogene homolog (avian)	Myc interacts with PML. This interaction was modelled on a demonstrated interaction between mouse Myc and human PML.	BIND	15735755
NCOR1	KIAA1047 \| MGC104216 \| N-CoR \| TRAC1 \| hCIT529I10 \| hN-CoR	nuclear receptor co-repressor 1	-	HPRD，Biogrid	11430826
NCOR2	CTG26 \|SMRT \|Smrte \|smrte-tau \|TNRC14 \|TRAC-1 \|trac1	nuclear receptor co-repressor 2	-	HPRD，Biogrid	11585900
NR4A1	GFRP1 \| HMR \| MGC9485 \| N10 \| NAK-1 \| NGFIB \| NP10 \| NUR77 \| TR3	nuclear receptor subfamily 4, group A, member 1	-	HPRD，Biogrid	12032831
PAWR	PAR4 \| Par-4	PRKC, apoptosis, WT1, regulator	-	HPRD	12717420
PML	myl \|pp8675 \|RNF71 \|TRIM19	Promyelocytic白血病	远西方	BioGRID	10669754
RARA	NR1B1 \|RAR	视黄酸受体，α	-	HPRD	12935927
RARA	NR1B1 \|RAR	视黄酸受体，α	Reconstituted Complex	BioGRID	10610177
RB1	OSRC \| RB \| p105-Rb \| pRb \| pp110	视网膜细胞瘤1	-	HPRD，Biogrid	9448006
Rela	MGC131774 \| NFKB3 \| p65	v-rel reticuloendotheliosis viral oncogene homolog A (avian)	-	HPRD，Biogrid	12540841
RPL11	GIG34	ribosomal protein L11	PMLinteracts with L11 in the nucleolus.	BIND	15195100
RPL11	GIG34	ribosomal protein L11	Affinity Capture-Western Reconstituted Complex	BioGRID	15195100
rxra	FLJ00280 \|FLJ00318 \|FLJ16020 \|FLJ16733 \|MGC102720 \|NR2B1	类维生素X受体，α	Reconstituted Complex	BioGRID	10610177
SENP2	AXAM2 \| DKFZp762A2316 \| KIAA1331 \| SMT3IP2	SUMO1/sentrin/SMT3 specific peptidase 2	-	HPRD	12419228
SIN3A	DKFZp434K2235 \| FLJ90319 \| KIAA0700	SIN3 homolog A, transcription regulator (yeast)	Affinity Capture-Western Reconstituted Complex	BioGRID	11430826
SKI	SKV	v-ski sarcoma viral oncogene homolog (avian)	-	HPRD，Biogrid	11430826
Smad2	JV18 \|JV18-1 \|madh2 \|Madr2 \|MGC22139 \|MGC34440 \|HMAD-2 \|HSMAD2	SMAD family member 2	-	HPRD，Biogrid	15356634
Smad2	JV18 \|JV18-1 \|madh2 \|Madr2 \|MGC22139 \|MGC34440 \|HMAD-2 \|HSMAD2	SMAD family member 2	CPML与SMAD2相互作用。	BIND	15356634
Smad3	DKFZP586N0721 \|DKFZP686J10186 \|HSPC193 \|HST17436 \|JV15-2 \|madh3 \|MGC60396	SMAD family member 3	CPML与SMAD3相互作用。	BIND	15356634
Smad3	DKFZP586N0721 \|DKFZP686J10186 \|HSPC193 \|HST17436 \|JV15-2 \|madh3 \|MGC60396	SMAD family member 3	-	HPRD，Biogrid	15356634
SP1	-	SP1转录因子	-	HPRD，Biogrid	9819401
SRF	MCM1	血清反应因子（C-FOS血清响应元件结合转录因子）	-	HPRD，Biogrid	12622724
STAT3	APRF \|FLJ20882 \|hies \|MGC16063	signal transducer and activator of transcription 3 (acute-phase response factor)	-	HPRD，Biogrid	12506013
SUMO1	DAP-1 \|GMP1 \|OFC10 \|pic1 \|senp2 \|SMT3 \|SMT3C \|SMT3H3 \|Sumo-1 \|UBL1	MIF的SMT3抑制器两个3同源物1（S. cerevisiae）	-	HPRD	8806687\|11080164
SUMO1	DAP-1 \|GMP1 \|OFC10 \|pic1 \|senp2 \|SMT3 \|SMT3C \|SMT3H3 \|Sumo-1 \|UBL1	MIF的SMT3抑制器两个3同源物1（S. cerevisiae）	Affinity Capture-Western in vitro 体内 Two-hybrid	BioGRID	8806687\|9452416 \|11948183
SUMO2	HSMT3 \|MGC117191 \|SMT3B \|SMT3H2	SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae)	-	HPRD	9452416
TDG	-	thymine-DNA glycosylase	-	HPRD，Biogrid	15569683
TGFBR1	AAT5 \| ACVRLK4 \| ALK-5 \| ALK5 \| LDS1A \| LDS2A \| SKR4 \| TGFR-1	转化生长因子，β受体1	-	HPRD	15356634
TGFBR1	AAT5 \| ACVRLK4 \| ALK-5 \| ALK5 \| LDS1A \| LDS2A \| SKR4 \| TGFR-1	转化生长因子，β受体1	cPML interacts with T-beta-RI.	BIND	15356634
TGFBR2	AAT3 \| FAA3 \| LDS1B \| LDS2B \| MFS2 \| RIIC \| TAAD2 \| TGFR-2 \| TGFbeta-RII	转化生长因子，β受体II（70/80KDA）	cPML interacts with T-beta-RII.	BIND	15356634
TGFBR2	AAT3 \| FAA3 \| LDS1B \| LDS2B \| MFS2 \| RIIC \| TAAD2 \| TGFR-2 \| TGFbeta-RII	转化生长因子，β受体II（70/80KDA）	-	HPRD	15356634
thra	AR7 \|Ear7 \|ERB-T-1 \|Erba \|erba1 \|MGC000261 \|MGC43240 \|NR1A1 \|thra1 \|thra2 \| c-ERBA-1	thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)	-	HPRD	10610177
TOPBP1	TOP2BP1	拓扑异构酶(DNA)binding protein 1	-	HPRD，Biogrid	12773567
TP53	FLJ92943 \| LFS1 \| TRP53 \| p53	tumor protein p53	Affinity Capture-Western Reconstituted Complex	BioGRID	11025664\|11080164 \|12915590
TP53	FLJ92943 \| LFS1 \| TRP53 \| p53	tumor protein p53	-	HPRD	11025664\|11080164 \|11704853
TP73	p73	tumor protein p73	-	HPRD	11832207
TRIM24	PTC6 \| RNF82 \| TF1A \| TIF1 \| TIF1A \| TIF1ALPHA \| hTIF1	tripartite motif-containing 24	-	HPRD，Biogrid	10610177
Trim27	RFP \| RNF76	tripartite motif-containing 27	-	HPRD，Biogrid	9570750
Trim69	HSD34 \| RNF36 \| Trif	tripartite motif-containing 69	-	HPRD，Biogrid	12837286
ube2i	C358B7.1 \| P18 \| UBC9	ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)	Biochemical Activity	BioGRID	18691969
ZBTB16	PLZF \|ZNF145	zinc finger and BTB domain containing 16	-	HPRD，Biogrid	9294197\|11175338
ZFYVE9	MADHIP \| NSP \| SARA \| SMADIP	锌指，含有9的FYVE域	-	HPRD，Biogrid	15356634
ZFYVE9	MADHIP \| NSP \| SARA \| SMADIP	锌指，含有9的FYVE域	cPML interacts with SARA.	BIND	15356634

Section V. Pathway annotation

Pathway name	Pathway size	＃szgr 2.0基因	Info
KEGG泛素介导的蛋白水解	138	98	All SZGR 2.0 genes in this pathway
KEGG PATHWAYS IN CANCER	328	259	All SZGR 2.0 genes in this pathway
KEGG ACUTE MYELOID LEUKEMIA	60	47	All SZGR 2.0 genes in this pathway
Biocarta PML途径	17	12	All SZGR 2.0 genes in this pathway
PID P73Pathway	79	59	All SZGR 2.0 genes in this pathway
PID MTOR 4PATHWAY	69	55	All SZGR 2.0 genes in this pathway
PID MYC PATHWAY	25	22	All SZGR 2.0 genes in this pathway
PID P53下游通路	137	94	All SZGR 2.0 genes in this pathway
PID TAP63途径	54	40	All SZGR 2.0 genes in this pathway
PID TGFBR PATHWAY	55	38	All SZGR 2.0 genes in this pathway
REACTOME INTERFERON GAMMA SIGNALING	63	48	All SZGR 2.0 genes in this pathway
REACTOME INTERFERON SIGNALING	159	116	All SZGR 2.0 genes in this pathway
Reactome免疫系统	933	616	All SZGR 2.0 genes in this pathway
REACTOME CYTOKINE SIGNALING IN IMMUNE SYSTEM	270	204	All SZGR 2.0 genes in this pathway
OSMAN BLADDER CANCER DN	406	230	All SZGR 2.0 genes in this pathway
GARGALOVIC RESPONSE TO OXIDIZED PHOSPHOLIPIDS YELLOW DN	23	15	All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 3 DN	229	142	All SZGR 2.0 genes in this pathway
Markey RB1慢性洛夫	115	78	All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN UP	1142	669	All SZGR 2.0 genes in this pathway
VETTER TARGETS OF PRKCA AND ETS1 UP	16	8	All SZGR 2.0 genes in this pathway
KLEIN TARGETS OF BCR ABL1 FUSION	45	34	All SZGR 2.0 genes in this pathway
牛津拉尔布目标dn	9	6	All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS UP	769	437	All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS UP	1037	673	All SZGR 2.0 genes in this pathway
RICKMAN METASTASIS DN	261	155	All SZGR 2.0 genes in this pathway
Shin B细胞淋巴瘤簇7	27	22	All SZGR 2.0 genes in this pathway
张对IKK抑制剂和TNF的反应	223	140	All SZGR 2.0 genes in this pathway
Mori未成熟B淋巴细胞向上	53	35	All SZGR 2.0 genes in this pathway
DER IFN ALPHA RESPONSE UP	74	48	All SZGR 2.0 genes in this pathway
SMITH TERT TARGETS DN	87	69	All SZGR 2.0 genes in this pathway
der ifn伽马响应	71	45	All SZGR 2.0 genes in this pathway
Nemeth炎症反应LPS	88	64	All SZGR 2.0 genes in this pathway
MLL AF9融合的Kumar目标	405	264	All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 20HR UP	240	152	All SZGR 2.0 genes in this pathway
苏胰腺	54	30	All SZGR 2.0 genes in this pathway
葡萄病毒感染的Debiasi凋亡	314	201	All SZGR 2.0 genes in this pathway
BROWNE INTERFERON RESPONSIVE GENES	68	44	All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP	1691	1088	All SZGR 2.0 genes in this pathway
ZHU CMV ALL UP	120	89	All SZGR 2.0 genes in this pathway
tseng irs1靶向DN	135	88	All SZGR 2.0 genes in this pathway
LEE CALORIE RESTRICTION NEOCORTEX DN	88	58	All SZGR 2.0 genes in this pathway
Browne HCMV感染12小时	111	68	All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 1	419	273	All SZGR 2.0 genes in this pathway
ZHU CMV 8 HR UP	47	39	All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP	953	554	All SZGR 2.0 genes in this pathway
Krige对Tosedostat的反应24小时	783	442	All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED	1229	713	All SZGR 2.0 genes in this pathway
MARSON BOUND BY E2F4 UNSTIMULATED	728	415	All SZGR 2.0 genes in this pathway
促进耐受巨噬细胞DN	409	268	All SZGR 2.0 genes in this pathway
HELLER SILENCED BY METHYLATION UP	282	183	All SZGR 2.0 genes in this pathway
伽玛辐射2G后的生存率不佳	171	96	All SZGR 2.0 genes in this pathway
乳腺癌萧述三腔的DN	564	326	All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL UP	648	398	All SZGR 2.0 genes in this pathway
WANG TUMOR INVASIVENESS DN	210	128	All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP	323	240	All SZGR 2.0 genes in this pathway
MIKKELSEN ES ICP WITH H3K4ME3	718	401	All SZGR 2.0 genes in this pathway
Mikkelsen NPC ICP带有H3K4Me3	445	257	All SZGR 2.0 genes in this pathway
YIH对砷C5的反应	10	7	All SZGR 2.0 genes in this pathway
DUAN PRDM5 TARGETS	79	52	All SZGR 2.0 genes in this pathway
Smad2或Smad3的Koinuma目标	824	528	All SZGR 2.0 genes in this pathway
rao由SALL4同工型B绑定	517	302	All SZGR 2.0 genes in this pathway
BOSCO INTERFERON INDUCED ANTIVIRAL MODULE	78	48	All SZGR 2.0 genes in this pathway

基因页：PML