SZGR2

Summary ?

GeneID	4154
Symbol	MBNL1
Synonyms	EXP\|MBNL
Description	muscleblind like splicing regulator 1
Reference	MIM:606516\|HGNC:HGNC:6923\|Ensembl:ENSG00000152601\|HPRD:07355\|Vega:OTTHUMG00000159163
Gene type	protein-coding
Map location	3q25
Pascal p-value	0.022
Fetal beta	-1.512
eGene	Meta

Gene in Data Sources

Gene set name	Method of gene set	Description	Info
CV:PGCnp	Genome-wide Association Study	GWAS
PMID:cooccur	High-throughput literature-search	Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
Literature	High-throughput literature-search	Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias	Click to show details
GO_Annotation	Mapping neuro-related keywords to Gene Ontology annotations	Hits with neuro-related keywords: 3

Section I. Genetics and epigenetics annotation

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
HACE1	0.81	0.81
NHLRC3	0.81	0.79
EZH1	0.79	0.79
IFT80	0.79	0.79
PDCD6IP	0.79	0.79
MFSD8	0.78	0.78
KRIT1	0.78	0.78
MON2	0.78	0.80
ZDHHC17	0.78	0.78
ATR	0.77	0.78

Top 10 negatively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
AF347015.21	-0.54	-0.42
IL32	-0.53	-0.45
CLEC3B	-0.52	-0.54
HIGD1B	-0.52	-0.47
METRN	-0.52	-0.50
C1orf61	-0.51	-0.54
C16orf74	-0.50	-0.48
AC098691.2	-0.50	-0.47
IFI27	-0.50	-0.43
CSAG1	-0.50	-0.43

Section III. Gene Ontology annotation

Molecular function	GO term	Evidence	Neuro keywords	PubMed ID
GO:0003676	nucleic acid binding	IEA		-
GO:0003725	double-stranded RNA binding	IDA		10970838
GO:0008270	zinc ion binding	IEA		-
GO:0046872	metal ion binding	IEA		-
Biological process	GO term	Evidence	Neuro keywords	PubMed ID
GO:0007519	skeletal muscle development	IEA	neuron (GO term level: 8)	-
GO:0007399	nervous system development	IEA	neurite (GO term level: 5)	-
GO:0007399	nervous system development	ISS	neurite (GO term level: 5)	-
GO:0001701	in utero embryonic development	IEA		-
GO:0001701	in utero embryonic development	ISS		-
GO:0006376	mRNA splice site selection	IEA		-
GO:0007517	muscle development	IEA		-
GO:0007517	muscle development	ISS		-
GO:0030326	embryonic limb morphogenesis	IEA		-
GO:0030326	embryonic limb morphogenesis	ISS		-
GO:0045445	myoblast differentiation	IEA		-
GO:0045445	myoblast differentiation	ISS		-
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0005634	nucleus	IDA		10970838
GO:0005737	cytoplasm	IDA		10970838

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
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
ZHOU INFLAMMATORY RESPONSE LIVE UP	485	293	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
HORIUCHI WTAP TARGETS DN	310	188	All SZGR 2.0 genes in this pathway
WANG CLIM2 TARGETS DN	186	114	All SZGR 2.0 genes in this pathway
OSMAN BLADDER CANCER UP	404	246	All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 1 UP	380	236	All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 UP	418	263	All SZGR 2.0 genes in this pathway
UDAYAKUMAR MED1 TARGETS UP	135	82	All SZGR 2.0 genes in this pathway
SENESE HDAC1 TARGETS UP	457	269	All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS UP	501	327	All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED UP	633	376	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 ANAPLASTIC UP	722	443	All SZGR 2.0 genes in this pathway
CHOW RASSF1 TARGETS UP	27	17	All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE DN	485	334	All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 2A DN	141	84	All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS	1174	695	All SZGR 2.0 genes in this pathway
SEIDEN ONCOGENESIS BY MET	88	53	All SZGR 2.0 genes in this pathway
SCHLOSSER SERUM RESPONSE DN	712	443	All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN	855	609	All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 COMMON DN	483	336	All SZGR 2.0 genes in this pathway
DAIRKEE TERT TARGETS DN	124	79	All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK	1652	1023	All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK	1442	892	All SZGR 2.0 genes in this pathway
LIAO METASTASIS	539	324	All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS	775	494	All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 40 HELA	42	29	All SZGR 2.0 genes in this pathway
ROSS AML WITH MLL FUSIONS	78	45	All SZGR 2.0 genes in this pathway
KUMAR TARGETS OF MLL AF9 FUSION	405	264	All SZGR 2.0 genes in this pathway
REN ALVEOLAR RHABDOMYOSARCOMA DN	408	274	All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 10	30	17	All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 20HR DN	101	70	All SZGR 2.0 genes in this pathway
SUZUKI RESPONSE TO TSA	22	8	All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 5	482	296	All SZGR 2.0 genes in this pathway
ZHENG BOUND BY FOXP3	491	310	All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED	1022	619	All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED	1229	713	All SZGR 2.0 genes in this pathway
ZHENG FOXP3 TARGETS IN THYMUS UP	196	137	All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS SILENCED BY METHYLATION DN	281	179	All SZGR 2.0 genes in this pathway
FUJII YBX1 TARGETS DN	202	132	All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN DN	249	165	All SZGR 2.0 genes in this pathway
EHLERS ANEUPLOIDY UP	41	29	All SZGR 2.0 genes in this pathway
ROSS LEUKEMIA WITH MLL FUSIONS	78	49	All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS UP	518	299	All SZGR 2.0 genes in this pathway
VALK AML CLUSTER 16	26	17	All SZGR 2.0 genes in this pathway
YAGI AML WITH 11Q23 REARRANGED	351	238	All SZGR 2.0 genes in this pathway
FONTAINE FOLLICULAR THYROID ADENOMA UP	75	43	All SZGR 2.0 genes in this pathway
FOURNIER ACINAR DEVELOPMENT LATE 2	277	172	All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC	1103	714	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 UP	504	321	All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 2 DN	336	211	All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 DN	918	550	All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3	824	528	All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D	882	506	All SZGR 2.0 genes in this pathway
DELACROIX RARG BOUND MEF	367	231	All SZGR 2.0 genes in this pathway
FORTSCHEGGER PHF8 TARGETS DN	784	464	All SZGR 2.0 genes in this pathway
RATTENBACHER BOUND BY CELF1	467	251	All SZGR 2.0 genes in this pathway
LIM MAMMARY STEM CELL UP	489	314	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
miR-101	1607	1614	1A,m8	hsa-miR-101	UACAGUACUGUGAUAACUGAAG
miR-101	1607	1614	1A,m8	hsa-miR-101	UACAGUACUGUGAUAACUGAAG
miR-103/107	2399	2406	1A,m8	hsa-miR-103^brain	AGCAGCAUUGUACAGGGCUAUGA
miR-103/107	2399	2406	1A,m8	hsa-miR-107^brain	AGCAGCAUUGUACAGGGCUAUCA
miR-122	2596	2602	1A	hsa-miR-122a	UGGAGUGUGACAAUGGUGUUUGU
miR-129-5p	1871	1877	1A	hsa-miR-129^brain	CUUUUUGCGGUCUGGGCUUGC
miR-129-5p	1871	1877	1A	hsa-miR-129-5p	CUUUUUGCGGUCUGGGCUUGCU
miR-130/301	3187	3193	m8	hsa-miR-130a^brain	CAGUGCAAUGUUAAAAGGGCAU
				hsa-miR-301	CAGUGCAAUAGUAUUGUCAAAGC
				hsa-miR-130b^brain	CAGUGCAAUGAUGAAAGGGCAU
				hsa-miR-454-3p	UAGUGCAAUAUUGCUUAUAGGGUUU
				hsa-miR-130a^brain	CAGUGCAAUGUUAAAAGGGCAU
				hsa-miR-301	CAGUGCAAUAGUAUUGUCAAAGC
				hsa-miR-130b^brain	CAGUGCAAUGAUGAAAGGGCAU
				hsa-miR-454-3p	UAGUGCAAUAUUGCUUAUAGGGUUU
miR-134	1116	1123	1A,m8	hsa-miR-134^brain	UGUGACUGGUUGACCAGAGGG
miR-141/200a	704	711	1A,m8	hsa-miR-141	UAACACUGUCUGGUAAAGAUGG
miR-141/200a	704	711	1A,m8	hsa-miR-200a	UAACACUGUCUGGUAACGAUGU
miR-144	2215	2221	1A	hsa-miR-144	UACAGUAUAGAUGAUGUACUAG
miR-144	2215	2221	1A	hsa-miR-144	UACAGUAUAGAUGAUGUACUAG
miR-150	1492	1498	1A	hsa-miR-150	UCUCCCAACCCUUGUACCAGUG
miR-183	665	672	1A,m8	hsa-miR-183	UAUGGCACUGGUAGAAUUCACUG
miR-186	771	777	m8	hsa-miR-186	CAAAGAAUUCUCCUUUUGGGCUU
miR-188	979	985	m8	hsa-miR-188	CAUCCCUUGCAUGGUGGAGGGU
miR-19	2445	2451	m8	hsa-miR-19a	UGUGCAAAUCUAUGCAAAACUGA
miR-19	2445	2451	m8	hsa-miR-19b	UGUGCAAAUCCAUGCAAAACUGA
miR-200bc/429	691	697	1A	hsa-miR-200b	UAAUACUGCCUGGUAAUGAUGAC
				hsa-miR-200c	UAAUACUGCCGGGUAAUGAUGG
				hsa-miR-429	UAAUACUGUCUGGUAAAACCGU
miR-203.1	1816	1822	1A	hsa-miR-203	UGAAAUGUUUAGGACCACUAG
miR-203.1	1816	1822	1A	hsa-miR-203	UGAAAUGUUUAGGACCACUAG
miR-204/211	978	984	m8	hsa-miR-204^brain	UUCCCUUUGUCAUCCUAUGCCU
miR-204/211	978	984	m8	hsa-miR-211	UUCCCUUUGUCAUCCUUCGCCU
miR-21	2288	2294	m8	hsa-miR-21^brain	UAGCUUAUCAGACUGAUGUUGA
miR-21	2288	2294	m8	hsa-miR-590	GAGCUUAUUCAUAAAAGUGCAG
miR-218	843	849	1A	hsa-miR-218^brain	UUGUGCUUGAUCUAACCAUGU
miR-218	843	849	1A	hsa-miR-218^brain	UUGUGCUUGAUCUAACCAUGU
miR-223	2702	2708	1A	hsa-miR-223	UGUCAGUUUGUCAAAUACCCC
miR-224	1695	1701	m8	hsa-miR-224	CAAGUCACUAGUGGUUCCGUUUA
miR-23	3119	3125	m8	hsa-miR-23a^brain	AUCACAUUGCCAGGGAUUUCC
miR-23	3119	3125	m8	hsa-miR-23b^brain	AUCACAUUGCCAGGGAUUACC
miR-299-5p	1179	1185	1A	hsa-miR-299-5p	UGGUUUACCGUCCCACAUACAU
miR-323	3119	3125	1A	hsa-miR-323^brain	GCACAUUACACGGUCGACCUCU
miR-328	2720	2726	1A	hsa-miR-328^brain	CUGGCCCUCUCUGCCCUUCCGU
miR-330	1073	1079	m8	hsa-miR-330^brain	GCAAAGCACACGGCCUGCAGAGA
miR-335	2383	2389	1A	hsa-miR-335^brain	UCAAGAGCAAUAACGAAAAAUGU
miR-346	2118	2125	1A,m8	hsa-miR-346^brain	UGUCUGCCCGCAUGCCUGCCUCU
miR-363	2376	2382	1A	hsa-miR-363	AUUGCACGGUAUCCAUCUGUAA
miR-369-3p	692	698	m8	hsa-miR-369-3p	AAUAAUACAUGGUUGAUCUUU
miR-375	2033	2039	1A	hsa-miR-375	UUUGUUCGUUCGGCUCGCGUGA
miR-382	3261	3268	1A,m8	hsa-miR-382^brain	GAAGUUGUUCGUGGUGGAUUCG
miR-433-3p	658	664	1A	hsa-miR-433^brain	AUCAUGAUGGGCUCCUCGGUGU
miR-452	2377	2383	m8	hsa-miR-452	UGUUUGCAGAGGAAACUGAGAC
miR-495	2533	2539	1A	hsa-miR-495^brain	AAACAAACAUGGUGCACUUCUUU
miR-505	1589	1595	m8	hsa-miR-505	GUCAACACUUGCUGGUUUCCUC
miR-543	2231	2237	1A	hsa-miR-543	AAACAUUCGCGGUGCACUUCU
miR-9	793	799	m8	hsa-miR-9^SZ	UCUUUGGUUAUCUAGCUGUAUGA
miR-93.hd/291-3p/294/295/302/372/373/520	3189	3195	1A	hsa-miR-93^brain	AAAGUGCUGUUCGUGCAGGUAG
				hsa-miR-302a	UAAGUGCUUCCAUGUUUUGGUGA
				hsa-miR-302b	UAAGUGCUUCCAUGUUUUAGUAG
				hsa-miR-302c	UAAGUGCUUCCAUGUUUCAGUGG
				hsa-miR-302d	UAAGUGCUUCCAUGUUUGAGUGU
				hsa-miR-372	AAAGUGCUGCGACAUUUGAGCGU
				hsa-miR-373	GAAGUGCUUCGAUUUUGGGGUGU
				hsa-miR-520e	AAAGUGCUUCCUUUUUGAGGG
				hsa-miR-520a	AAAGUGCUUCCCUUUGGACUGU
				hsa-miR-520b	AAAGUGCUUCCUUUUAGAGGG
				hsa-miR-520c	AAAGUGCUUCCUUUUAGAGGGUU
				hsa-miR-520d	AAAGUGCUUCUCUUUGGUGGGUU
miR-99/100	1643	1649	m8	hsa-miR-99a^brain	AACCCGUAGAUCCGAUCUUGUG
				hsa-miR-100^brain	AACCCGUAGAUCCGAACUUGUG
				hsa-miR-99b^brain	CACCCGUAGAACCGACCUUGCG

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: MBNL1