SZGR2

Summary ?

GeneID	1756
Symbol	DMD
Synonyms	BMD\|CMD3B\|DXS142\|DXS164\|DXS206\|DXS230\|DXS239\|DXS268\|DXS269\|DXS270\|DXS272\|MRX85
Description	dystrophin
Reference	MIM:300377\|HGNC:HGNC:2928\|Ensembl:ENSG00000198947\|HPRD:02303\|Vega:OTTHUMG00000021336
Gene type	protein-coding
Map location	Xp21.2
Sherlock p-value	0.875
Fetal beta	-0.3
Support	CompositeSet

Gene in Data Sources

Gene set name	Method of gene set	Description
CV: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	GWASdb records for schizophrenia
CV:PGCnp	Genome-wide Association Study	GWAS
DNM:Fromer_2014	Whole Exome Sequencing analysis	This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GO_Annotation	Mapping neuro-related keywords to Gene Ontology annotations	Hits with neuro-related keywords: 2
Network	Shortest path distance of core genes in the Human protein-protein interaction network	Contribution to shortest path in PPI network: 0.259

Section I. Genetics and epigenetics annotation

DNM table

Gene	Chromosome	Position	Ref	Alt	Transcript	AA change	Mutation type	Sift	CG46	Trait	Study
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	missense missense missense missense missense			Schizophrenia	DNM:Fromer_2014

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.

Top co-expressed genes in brain regions

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

Section III. Gene Ontology annotation

Molecular function	GO term	Evidence	Neuro keywords	PubMed ID
GO:0003779	actin binding	IEA		-
GO:0003779	actin binding	ISS		2261642
GO:0003779	actin binding	TAS		12376554
GO:0005509	calcium ion binding	IEA		-
GO:0005515	protein binding	IEA		-
GO:0005515	protein binding	IPI		16000376
GO:0005200	structural constituent of cytoskeleton	TAS		3282674
GO:0008270	zinc ion binding	IEA		-
GO:0008307	structural constituent of muscle	IDA		16000376
GO:0008307	structural constituent of muscle	TAS		3287171
GO:0050998	nitric-oxide synthase binding	ISS		7545544
Biological process	GO term	Evidence	Neuro keywords	PubMed ID
GO:0007519	skeletal muscle development	IEA	neuron (GO term level: 8)	-
GO:0045213	neurotransmitter receptor metabolic process	IEA	Synap, Neurotransmitter (GO term level: 7)	-
GO:0007517	muscle development	NAS		1824797
GO:0007016	cytoskeletal anchoring at plasma membrane	ISS		2261642
GO:0007016	cytoskeletal anchoring at plasma membrane	NAS		-
GO:0043043	peptide biosynthetic process	IDA		16000376
GO:0046716	muscle maintenance	IEA		-
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0045202	synapse	IEA	neuron, Synap, Neurotransmitter, Glial (GO term level: 2)	-
GO:0005792	microsome	IEA		-
GO:0005856	cytoskeleton	TAS		3282674
GO:0005626	insoluble fraction	IEA		-
GO:0005634	nucleus	IDA		18029348
GO:0005737	cytoplasm	IEA		-
GO:0030018	Z disc	IEA		-
GO:0009986	cell surface	IDA		10867799
GO:0016010	dystrophin-associated glycoprotein complex	IEA		-
GO:0016010	dystrophin-associated glycoprotein complex	ISS		2261642
GO:0016010	dystrophin-associated glycoprotein complex	NAS		-
GO:0016010	dystrophin-associated glycoprotein complex	TAS		8282811
GO:0042383	sarcolemma	IDA		7545544
GO:0042383	sarcolemma	IEA		-
GO:0030055	cell-substrate junction	IEA		-
GO:0043034	costamere	IDA		16000376
GO:0045121	membrane raft	IEA		-

Section IV. Protein-protein interaction annotation

Interactors	Aliases B	Official full name B	Experimental	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	diacylglycerol kinase, zeta 104kDa	-	HPRD	11352924
DTNA	D18S892E \| DRP3 \| DTN \| FLJ96209 \| LVNC1	dystrobrevin, alpha	-	HPRD,BioGRID	9356463
DTNB	MGC17163 \| MGC57126	dystrobrevin, beta	Affinity Capture-Western	BioGRID	10545507
FASLG	APT1LG1 \| CD178 \| CD95L \| FASL \| TNFSF6	Fas ligand (TNF superfamily, member 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	Affinity Capture-Western	BioGRID	15024025
PGM5	PGMRP	phosphoglucomutase 5	-	HPRD	7890770 \|10867799
SGCZ	MGC149397 \| ZSG1	sarcoglycan zeta	-	HPRD	12189167
SNTA1	SNT1 \| TACIP1 \| dJ1187J4.5	syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component)	-	HPRD,BioGRID	7890602
SNTB1	59-DAP \| A1B \| BSYN2 \| DAPA1B \| FLJ22442 \| MGC111389 \| SNT2 \| SNT2B1 \| TIP-43	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	-	HPRD,BioGRID	7844150
SNTB2	D16S2531E \| EST25263 \| SNT2B2 \| SNT3 \| SNTL	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	Protein-peptide	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

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
KEGG HYPERTROPHIC CARDIOMYOPATHY HCM	85	65	All SZGR 2.0 genes in this pathway
KEGG ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY ARVC	76	59	All SZGR 2.0 genes in this pathway
KEGG DILATED CARDIOMYOPATHY	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
REACTOME STRIATED MUSCLE CONTRACTION	27	12	All SZGR 2.0 genes in this pathway
REACTOME MUSCLE CONTRACTION	48	24	All SZGR 2.0 genes in this pathway
NAKAMURA TUMOR ZONE PERIPHERAL VS CENTRAL 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 BREAST LOBULAR CARCINOMA VS DUCTAL NORMAL DN	91	53	All SZGR 2.0 genes in this pathway
TURASHVILI BREAST LOBULAR CARCINOMA VS LOBULAR NORMAL UP	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
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL 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
TAKEDA TARGETS OF NUP98 HOXA9 FUSION 10D UP	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 NEURAL CREST STEM CELL DN	118	79	All SZGR 2.0 genes in this pathway
GRAHAM CML DIVIDING VS NORMAL QUIESCENT DN	95	57	All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA DN	1375	806	All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED 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
DELYS THYROID CANCER UP	443	294	All SZGR 2.0 genes in this pathway
BEGUM TARGETS OF PAX3 FOXO1 FUSION UP	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
FARMER BREAST CANCER APOCRINE VS BASAL	330	217	All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER BASAL VS LULMINAL	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
WEINMANN ADAPTATION TO HYPOXIA UP	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
BLALOCK ALZHEIMERS DISEASE UP	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
MARTINEZ RB1 TARGETS UP	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 AND TP53 TARGETS DN	591	366	All SZGR 2.0 genes in this pathway
RIZKI TUMOR INVASIVENESS 3D UP	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 BREAST CANCER LUMINAL B DN	564	326	All SZGR 2.0 genes in this pathway
SMID BREAST 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 LIVER CANCER SUBCLASS 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 UVC RESPONSE VIA TP53 GROUP D	280	158	All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS 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 family	Target position			miRNA ID	miRNA seq
miRNA family	UTR start	UTR end	Match method	miRNA ID	miRNA seq
let-7/98	1848	1855	1A,m8	hsa-let-7a^brain	UGAGGUAGUAGGUUGUAUAGUU
				hsa-let-7b^brain	UGAGGUAGUAGGUUGUGUGGUU
				hsa-let-7c^brain	UGAGGUAGUAGGUUGUAUGGUU
				hsa-let-7d^brain	AGAGGUAGUAGGUUGCAUAGU
				hsa-let-7e^brain	UGAGGUAGGAGGUUGUAUAGU
				hsa-let-7f^brain	UGAGGUAGUAGAUUGUAUAGUU
				hsa-miR-98^brain	UGAGGUAGUAAGUUGUAUUGUU
				hsa-let-7g^SZ	UGAGGUAGUAGUUUGUACAGU
				hsa-let-7i^brain	UGAGGUAGUAGUUUGUGCUGU
miR-101	118	124	1A	hsa-miR-101	UACAGUACUGUGAUAACUGAAG
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	CUUUUUGCGGUCUGGGCUUGC
miR-129-5p	196	202	1A	hsa-miR-129-5p	CUUUUUGCGGUCUGGGCUUGCU
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	UGUAACAGCAACUCCAUGUGGA
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	UGUAAACAUCCUACACUCAGCU
				hsa-miR-30e-5p	UGUAAACAUCCUUGACUGGA
miR-31	244	250	1A	hsa-miR-31	AGGCAAGAUGCUGGCAUAGCUG
miR-320	2272	2278	1A	hsa-miR-320	AAAAGCUGGGUUGAGAGGGCGAA
miR-320	2272	2278	1A	hsa-miR-320	AAAAGCUGGGUUGAGAGGGCGAA
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	GGCCUCAUUAAAUGUUUGUUG
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	UGAAACAUACACGGGAAACCUCUU
miR-495	155	161	1A	hsa-miR-495^brain	AAACAAACAUGGUGCACUUCUUU
miR-496	218	225	1A,m8	hsa-miR-496	AUUACAUGGCCAAUCUC

SZ: miRNAs which differentially expressed in brain cortex of schizophrenia patients comparing with control samples using microarray. Click here to see the list of SZ related miRNAs.
Brain: miRNAs which are expressed in brain based on miRNA microarray expression studies. Click here to see the list of brain related miRNAs.

Gene Page: DMD