SZGR2 - Beplay体育中心

Summary？

GeneID	1756
象征	DMD
Synonyms	BMD\|CMD3B\|DXS142\|DXS164\|DXS206\|DXS230\|DXS239\|DXS268\|DXS269\|DXS270\|DXS272\|MRX85
Description	dystrophin
参考erence	MIM:300377\|HGNC：HGNC：2928\|Ensembl：ENSG00000198947\|HPRD:02303\|Vega：Otthumg0000000021336
基因类型	蛋白质编码
Map location	Xp21.2
Sherlock p-value	0.875
胎儿β	-0.3
Support	CompositeSet

Gene in Data Sources

基因集名称	Method of gene set	Description
简历：Gwascat	Genome-wide Association Studies	This data set includes 560 SNPs associated with schizophrenia. A total of 486 genes were mapped to these SNPs within 50kb.
CV:GWASdb	Genome-wide Association Studies	精神分裂症的GWASDB记录
CV:PGCnp	Genome-wide Association Study	GWAS
DNM:Fromer_2014	Whole Exome Sequencing analysis	这项研究报道了WES对623个精神分裂症三重奏的研究，该研究使用基因组DNA报告了DNM。
GO_Annotation	将与神经相关的关键字映射到基因本体论注释	Hits with neuro-related keywords: 2
Network	Shortest path distance of core genes in the Human protein-protein interaction network	PPI网络中最短路径的贡献：0.259

Section I. Genetics and epigenetics annotation

DNM表

Gene	染色体	位置	参考	alt	成绩单	AA change	Mutation type	Sift	CG46	特征	学习
DMD	Chrx	32716053	G	C	NM_000109 NM_004006 NM_004007 NM_004009 NM_004010	p.290S>R p.298S>R p.175S>R p.294s> r p.175S>R	错义错义错义错义错义			Schizophrenia	DNM:Fromer_2014

第二节。转录组注释

一般基因表达（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.

时间变化的基因表达（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)
所示的栏表示表达分布的较低25％和上层25％。

大脑区域的顶级共表达基因

Top 10 positively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
C10orf79	0.93	0.62
C12orf63	0.93	0.54
WDR52	0.93	0.57
DNAH3	0.92	0.38
CCDC40	0.92	0.60
SPAG17	0.92	0.59
C3orf15	0.91	0.71
DNAH12	0.91	0.58
DNAH2	0.91	0.75
LRP2BP	0.89	0.42

Top 10 negatively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
MT-CO2	-0.23	-0.40
AF347015.31	-0.23	-0.43
Cox4i2	-0.22	-0.40
myl3	-0.22	-0.43
AF347015.8	-0.22	-0.38
AF347015.27	-0.22	-0.37
AF347015.2	-0.22	-0.37
AF347015.33	-0.21	-0.35
CXCL14	-0.21	-0.37
Mustn1	-0.21	-0.34

第三节。基因本体论注释

分子功能	去学期	证据	神经关键字	PubMed ID
GO:0003779	actin binding	IEA		-
GO:0003779	actin binding	ISS		2261642
GO:0003779	actin binding	TAS		12376554
去：0005509	calcium ion binding	IEA		-
去：0005515	蛋白质结合	IEA		-
去：0005515	蛋白质结合	IPI		16000376
去：0005200	细胞骨架的结构成分	TAS		3282674
GO:0008270	zinc ion binding	IEA		-
去：0008307	肌肉的结构成分	IDA		16000376
去：0008307	肌肉的结构成分	TAS		3287171
去：0050998	一氧化物合酶结合	ISS		7545544
生物过程	去学期	证据	神经关键字	PubMed ID
去：0007519	skeletal muscle development	IEA	神经元（GO期限：8）	-
GO:0045213	神经递质受体代谢过程	IEA	突触，神经递质（GO期限：7）	-
去：0007517	肌肉发育	nas		1824797
GO:0007016	细胞骨架锚定在质膜上	ISS		2261642
GO:0007016	细胞骨架锚定在质膜上	nas		-
去:0043043	peptide biosynthetic process	IDA		16000376
GO:0046716	muscle maintenance	IEA		-
Cellular component	去学期	证据	神经关键字	PubMed ID
GO:0045202	突触	IEA	neuron, Synap, Neurotransmitter, Glial (GO term level: 2)	-
去：0005792	microsome	IEA		-
去：0005856	细胞骨架	TAS		3282674
去：0005626	insoluble fraction	IEA		-
去：0005634	nucleus	IDA		18029348
去：0005737	cytoplasm	IEA		-
GO:0030018	Z disc	IEA		-
GO:0009986	cell surface	IDA		10867799
去：0016010	肌营养不良蛋白相关的糖蛋白复合物	IEA		-
去：0016010	肌营养不良蛋白相关的糖蛋白复合物	ISS		2261642
去：0016010	肌营养不良蛋白相关的糖蛋白复合物	nas		-
去：0016010	肌营养不良蛋白相关的糖蛋白复合物	TAS		8282811
GO:0042383	肌膜	IDA		7545544
GO:0042383	肌膜	IEA		-
GO:0030055	cell-substrate junction	IEA		-
GO:0043034	costamere	IDA		16000376
GO:0045121	膜筏	IEA		-

Section IV. Protein-protein interaction annotation

互动者	别名b	官方全名b	实验	Source	PubMed ID
ACTA1	Acta \|Asma \|CFTD \|CFTD1 \|CFTDM \|mpfd \|Nem1 \|Nem2 \|NEM3	actin, alpha 1, skeletal muscle	-	HPRD,BioGRID	1544421\|11259305
ACTA1	Acta \|Asma \|CFTD \|CFTD1 \|CFTDM \|mpfd \|Nem1 \|Nem2 \|NEM3	actin, alpha 1, skeletal muscle	-	HPRD	1544421
ACTC1	ACTC \| CMD1R \| CMH11	actin, alpha, cardiac muscle 1	-	HPRD	11997265
CADPS	CADPS1 \| CAPS \| CAPS1 \| KIAA1121	Ca++-dependent secretion activator	-	HPRD	12659812
CADPS2	FLJ40851 \|KIAA1591	Ca++-dependent secretion activator 2	-	HPRD	12659812
dag1	156DAG \|A3A \|agrnr \|dag	dystroglycan 1 (dystrophin-associated glycoprotein 1)	-	HPRD,BioGRID	10355629\|10932245
DGKZ	dagk5 \|dagk6 \|dgk-zeta \|HDGKZETA	二酰基甘油激酶，Zeta 104KDA	-	HPRD	11352924
DTNA	D18S892E \|drp3 \|DTN \|FLJ96209 \|LVNC1	dystrobrevin, alpha	-	HPRD,BioGRID	9356463
DTNB	MGC17163 \| MGC57126	Dystrobrevin，Beta	亲和力捕获 - 韦斯特恩	Biogrid	10545507
faslg	APT1LG1 \|CD178 \|CD95L \|fasl \|TNFSF6	FAS配体（TNF超家族，成员6）	-	HPRD	11741599
KCNJ12	FLJ14167 \|irk2 \|kcnjn1 \|Kir2.2 \|Kir2.2V \|Hirk \|hirk1 \|HKIR2.2X \|kcnj12x	potassium inwardly-rectifying channel, subfamily J, member 12	-	HPRD,BioGRID	15024025
KCNJ4	HIR \| HIRK2 \| HRK1 \| IRK3 \| Kir2.3 \| MGC142066 \| MGC142068	potassium inwardly-rectifying channel, subfamily J, member 4	亲和力捕获 - 韦斯特恩	Biogrid	15024025
PGM5	PGMRP	磷酸葡萄糖酶5	-	HPRD	7890770\|10867799
SGCZ	MGC149397 \| ZSG1	Sarcoglycan Zeta	-	HPRD	12189167
SNTA1	SNT1 \| TACIP1 \| dJ1187J4.5	Syntrophin，Alpha 1（肌营养不良蛋白相关的蛋白A1，59KDA，酸性成分）	-	HPRD,BioGRID	7890602
SNTB1	59-DAP \|A1b \|bsyn2 \|DAPA1B \|FLJ22442 \|MGC111389 \|SNT2 \|SNT2B1 \|提示43	Syntrophin，β1（肌营养不良蛋白相关的蛋白A1，59KDA，碱性成分1）	-	HPRD,BioGRID	7844150
SNTB2	D16S2531E \| EST25263 \| SNT2B2 \| SNT3 \| SNTL	Syntrophin，β2（肌营养不良蛋白相关的蛋白A1，59KDA，碱性成分2）	蛋白质肽	Biogrid	8576247
SNTG1	G1SYN \| SYN4	syntrophin, gamma 1	-	HPRD	10747910\|11352924
SNTG2	g2syn \|MGC133174 \|SYN5	syntrophin, gamma 2	-	HPRD	10747910
Utrn	DMDL \|DRP \|DRP1 \|FLJ23678	utrophin	-	HPRD	10767429

Section V. Pathway annotation

路径名	路径大小	# SZGR 2.0 genes in pathway	信息
KEGG HYPERTROPHIC CARDIOMYOPATHY HCM	85	65	All SZGR 2.0 genes in this pathway
KEGG心律失常右心肌病ARVC	76	59	All SZGR 2.0 genes in this pathway
KEGG扩张心肌病	92	68	All SZGR 2.0 genes in this pathway
KEGG VIRAL MYOCARDITIS	73	58	All SZGR 2.0 genes in this pathway
BIOCARTA AGR PATHWAY	36	31	All SZGR 2.0 genes in this pathway
反应组横纹的肌肉收缩	27	12	All SZGR 2.0 genes in this pathway
REACTOME MUSCLE CONTRACTION	48	24	All SZGR 2.0 genes in this pathway
中村肿瘤区周围与中央DN	634	384	All SZGR 2.0 genes in this pathway
LIU PROSTATE CANCER DN	481	290	All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA DN	526	357	All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA WITH LMP1 UP	408	247	All SZGR 2.0 genes in this pathway
turashvili乳房小叶癌与导管正常DN	91	53	All SZGR 2.0 genes in this pathway
turashvili乳房小叶癌与小叶正常	94	59	All SZGR 2.0 genes in this pathway
CORRE MULTIPLE MYELOMA UP	74	45	All SZGR 2.0 genes in this pathway
HUTTMANN B CLL POOR SURVIVAL UP	276	187	All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS BASAL DN	455	304	All SZGR 2.0 genes in this pathway
乳腺癌腔与间充质DN	460	312	All SZGR 2.0 genes in this pathway
WANG LMO4 TARGETS DN	352	225	All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER EARLY DN	367	220	All SZGR 2.0 genes in this pathway
GINESTIER BREAST CANCER 20Q13 AMPLIFICATION DN	180	101	All SZGR 2.0 genes in this pathway
NUP98 HOXA9 Fusion 10D的Takeda目标	194	122	All SZGR 2.0 genes in this pathway
Bilban b cll lpl up	63	39	All SZGR 2.0 genes in this pathway
Lee神经Crest干细胞DN	118	79	All SZGR 2.0 genes in this pathway
格雷厄姆CML分裂和正常QUIESCENT DN	95	57	All SZGR 2.0 genes in this pathway
多德鼻咽癌DN	1375	806	All SZGR 2.0 genes in this pathway
甲状腺癌的Rodrigues分化不佳的DN	805	505	All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA DN	77	52	All SZGR 2.0 genes in this pathway
甲状腺癌	443	294	All SZGR 2.0 genes in this pathway
PAX3 FOXO1融合的Begum目标	60	45	All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 TTD DN	84	63	All SZGR 2.0 genes in this pathway
农民乳腺癌根源与基础	330	217	All SZGR 2.0 genes in this pathway
农民乳腺癌基础与仙女	330	215	All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN	855	609	All SZGR 2.0 genes in this pathway
温曼对缺氧的适应	29	24	All SZGR 2.0 genes in this pathway
WEINMANN ADAPTATION TO HYPOXIA DN	41	33	All SZGR 2.0 genes in this pathway
GRUETZMANN PANCREATIC CANCER DN	203	134	All SZGR 2.0 genes in this pathway
RICKMAN HEAD AND NECK CANCER A	100	63	All SZGR 2.0 genes in this pathway
ONDER CDH1 TARGETS 2 DN	464	276	All SZGR 2.0 genes in this pathway
IIZUKA LIVER CANCER PROGRESSION L0 L1 UP	17	12	All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS PLASMABLAST UP	398	262	All SZGR 2.0 genes in this pathway
HASLINGER B CLL WITH MUTATED VH GENES	18	14	All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN	1237	837	All SZGR 2.0 genes in this pathway
阿尔茨海默氏症疾病	1691	1088	All SZGR 2.0 genes in this pathway
CHIBA RESPONSE TO TSA DN	23	14	All SZGR 2.0 genes in this pathway
KRASNOSELSKAYA ILF3 TARGETS DN	46	38	All SZGR 2.0 genes in this pathway
LEIN CEREBELLUM MARKERS	85	47	All SZGR 2.0 genes in this pathway
马丁内斯RB1靶向	673	430	All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS DN	593	372	All SZGR 2.0 genes in this pathway
Martinez RB1和TP53靶向DN	591	366	All SZGR 2.0 genes in this pathway
Rizki肿瘤侵入性3D	210	124	All SZGR 2.0 genes in this pathway
RIGGI EWING SARCOMA PROGENITOR UP	430	288	All SZGR 2.0 genes in this pathway
MASRI RESISTANCE TO TAMOXIFEN AND AROMATASE INHIBITORS UP	20	10	All SZGR 2.0 genes in this pathway
ACEVEDO METHYLATED IN LIVER CANCER DN	940	425	All SZGR 2.0 genes in this pathway
SMID乳腺癌腔B DN	564	326	All SZGR 2.0 genes in this pathway
乳房萧述三CANCER NORMAL LIKE UP	476	285	All SZGR 2.0 genes in this pathway
HELLEBREKERS SILENCED DURING TUMOR ANGIOGENESIS	80	56	All SZGR 2.0 genes in this pathway
SPIRA SMOKERS LUNG CANCER UP	38	24	All SZGR 2.0 genes in this pathway
RUIZ TNC TARGETS DN	142	79	All SZGR 2.0 genes in this pathway
Boyault肝癌子类G123 DN	51	30	All SZGR 2.0 genes in this pathway
YAGI AML WITH INV 16 TRANSLOCATION	422	277	All SZGR 2.0 genes in this pathway
KORKOLA EMBRYONIC CARCINOMA VS SEMINOMA DN	25	14	All SZGR 2.0 genes in this pathway
WONG ADULT TISSUE STEM MODULE	721	492	All SZGR 2.0 genes in this pathway
HIRSCH CELLULAR TRANSFORMATION SIGNATURE DN	103	67	All SZGR 2.0 genes in this pathway
GABRIELY MIR21 TARGETS	289	187	All SZGR 2.0 genes in this pathway
Bruins通过TP53组D的UVC响应	280	158	All SZGR 2.0 genes in this pathway
FEVR CTNNB1靶向DN	553	343	All SZGR 2.0 genes in this pathway
IKEDA MIR30 TARGETS UP	116	87	All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

mirna家族	Target position			miRNA ID	mirna seq
mirna家族	UTR开始	UTR结束	匹配方法	miRNA ID	mirna seq
let-7/98	1848	1855	1A，M8	hsa-let-7a^brain	ugagguaguaguauauaguu
				hsa-let-7b^brain	ugagguaguagguuguguguguu
				hsa-let-7c^brain	UGAGGUAGUAGGUUGUAUGGUU
				hsa-let-7d^brain	AGAGGUAGUAGGUUGCAUAGU
				hsa-let-7e^brain	ugagguaggagguuauauagu
				hsa-let-7f^brain	UGAGGUAGUAGAUUGUAUAGUU
				hsa-miR-98^brain	UGAGGUAGUAAGUUGUAUUGUU
				hsa-let-7g^SZ	UGAGGUAGUAGUUUGUACAGU
				hsa-let-7i^brain	ugagguaguugugugugugcugu
mir-101	118	124	1A	hsa-miR-101	uacaguacugauaacugaag
mir-124.1	2541	2547	M8	HSA-MIR-124a	UUAAGGCACGCGGUGAAUGCCA
miR-124/506	2541	2547	1A	hsa-miR-506	UAAGGCACCCUUCUGAGUAGA
miR-124/506	2541	2547	1A	HSA-MIR-124^brain	UAAGGCACGCGGUGAAUGCC
miR-129-5p	196	202	1A	HSA-MIR-129^brain	cuuuuugcgguggggcuugc
miR-129-5p	196	202	1A	HSA-MIR-129-5p	cuuuuugcgguggggcuugcu
miR-139	119	126	1A，M8	HSA-MIR-139^brain	ucuacagugcacgugucu
miR-142-5p	254	260	1A	hsa-miR-142-5p	cauaaaguagaaagcacuac
				hsa-miR-142-5p	cauaaaguagaaagcacuac
				hsa-miR-142-5p	cauaaaguagaaagcacuac
miR-144	117	124	1A，M8	HSA-MIR-144	UACAGUAUAGAUGAUGUACUAG
miR-153	183	190	1A，M8	HSA-MIR-153	UUGCAUAGUCACAAAAGUGA
miR-186	2326	2332	1A	HSA-MIR-186	CAAAGAAUUCUCCUUUUGGGCUU
miR-186	2326	2332	1A	HSA-MIR-186	CAAAGAAUUCUCCUUUUGGGCUU
miR-190	2517	2524	1A，M8	HSA-MIR-190	UGAUAUGUUUGAUAUAUUAGGU
miR-194	1711	1717	M8	HSA-MIR-194	uguaacagcaacuccauga
miR-200bc/429	2342	2348	1A	hsa-miR-200b	UAAUACUGCCUGGUAAUGAUGAC
				hsa-miR-200c	UAAUACUGCCGGGUAAUGAUGG
				hsa-miR-429	UAAUACUGUCUGGUAAAACCGU
mir-30-5p	72	78	1A	HSA-MIR-30A-5P	UGUAAACAUCCUCGACUGGAAG
				hsa-miR-30c^brain	UGUAAACAUCCUACACUCUCAGC
				hsa-miR-30d^SZ	UGUAAACAUCCCCGACUGGAAG
				hsa-miR-30b^SZ	uguaaacauccuaccucucagcu
				hsa-miR-30e-5p	UGUAAACAUCCUUGACUGGA
miR-31	244	250	1A	hsa-miR-31	Aggcaagaugcuggcauagcug
mir-320	2272	2278	1A	hsa-miR-320	aaaagcugggugagaggggcgaa
mir-320	2272	2278	1A	hsa-miR-320	aaaagcugggugagaggggcgaa
mir-369-3p	2553	2560	1A，M8	hsa-miR-369-3p	AAUAAUACAUGGUUGAUCUUU
miR-374	2554	2560	M8	HSA-MIR-374	uuauaauacaAccugauaagug
mir-421	413	419	1A	hsa-miR-421	ggccucauaauguuguug
mir-448	184	190	1A	hsa-miR-448	UUGCAUAUGUAGGAUGUCCCAU
miR-493-5p	192	198	1A	HSA-MIR-493-5p	uuguacaugguaggcuuucauu
miR-494	819	825	M8	HSA-MIR-494^brain	ugaaacauacgggaaaccucuu
miR-495	155	161	1A	HSA-MIR-495^brain	Aaacaaacauggugcacuuuuu
miR-496	218	225	1A，M8	HSA-MIR-496	AUUACAUGGCCAAUCUC

SZ：在精神分裂症患者的脑皮质中差异表达的miRNA与使用微阵列进行对照样品进行比较。点击hereto see the list of SZ related miRNAs.
大脑：基于miRNA微阵列表达研究在大脑中表达的miRNA。点击here查看与大脑相关的miRNA列表。

Gene Page:DMD