SZGR2

Summary ?

GeneID	10150
Symbol	MBNL2
Synonyms	MBLL\|MBLL39\|PRO2032
Description	muscleblind like splicing regulator 2
Reference	MIM:607327\|HGNC:HGNC:16746\|Ensembl:ENSG00000139793\|HPRD:09543\|Vega:OTTHUMG00000017239
Gene type	protein-coding
Map location	13q32.1
Pascal p-value	0.137
Sherlock p-value	0.605
Fetal beta	-2.439
eGene	Hypothalamus Myers' cis & trans

Gene in Data Sources

Gene set name	Method of gene set	Description	Info
CV:GWASdb	Genome-wide Association Studies	GWASdb records for schizophrenia
CV:PGCnp	Genome-wide Association Study	GWAS

Section I. Genetics and epigenetics annotation

eQTL annotation

SNP ID	Chromosome	Position	eGene	Gene Entrez ID	pvalue	qvalue	TSS distance	eQTL type
rs16952071	chr13	97986447	MBNL2	10150		0.18		cis
rs7318821	chr13	97988346	MBNL2	10150		0.18		cis

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
CLPTM1L	0.92	0.93
L3MBTL2	0.91	0.91
PGS1	0.91	0.90
COG8	0.91	0.89
VPS18	0.90	0.91
USP5	0.90	0.90
DGCR2	0.90	0.89
GDI1	0.89	0.88
DHX30	0.89	0.87
ARF1	0.89	0.86

Top 10 negatively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
AF347015.31	-0.75	-0.72
MT-CO2	-0.75	-0.71
AF347015.2	-0.73	-0.67
AF347015.8	-0.73	-0.71
AF347015.21	-0.73	-0.73
MT-CYB	-0.72	-0.68
AF347015.33	-0.71	-0.67
HIGD1B	-0.70	-0.67
AF347015.26	-0.69	-0.65
NOSTRIN	-0.69	-0.65

Section III. Gene Ontology annotation

Molecular function	GO term	Evidence	Neuro keywords	PubMed ID
GO:0003676	nucleic acid binding	IEA		-
GO:0003723	RNA binding	IEA		-
GO:0008270	zinc ion binding	IEA		-
GO:0046872	metal ion binding	IEA		-
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0005634	nucleus	IEA		-
GO:0005737	cytoplasm	IEA		-

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
THUM SYSTOLIC HEART FAILURE UP	423	283	All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP	1382	904	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
MULLIGHAN NPM1 MUTATED SIGNATURE 1 UP	276	165	All SZGR 2.0 genes in this pathway
MULLIGHAN NPM1 MUTATED SIGNATURE 2 UP	139	83	All SZGR 2.0 genes in this pathway
MULLIGHAN NPM1 SIGNATURE 3 UP	341	197	All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS UP	501	327	All SZGR 2.0 genes in this pathway
TIEN INTESTINE PROBIOTICS 24HR DN	214	133	All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS DN	459	276	All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC UP	722	443	All SZGR 2.0 genes in this pathway
MARTORIATI MDM4 TARGETS FETAL LIVER DN	514	319	All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS DN	848	527	All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS UP	811	508	All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 40 HELA	42	29	All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 60 HELA	46	32	All SZGR 2.0 genes in this pathway
AMIT SERUM RESPONSE 60 MCF10A	57	42	All SZGR 2.0 genes in this pathway
LU AGING BRAIN DN	153	120	All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 DN	830	547	All SZGR 2.0 genes in this pathway
YAMAZAKI TCEB3 TARGETS UP	175	116	All SZGR 2.0 genes in this pathway
BILD HRAS ONCOGENIC SIGNATURE	261	166	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 RESPONSE TO TOSEDOSTAT 24HR UP	783	442	All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 5	482	296	All SZGR 2.0 genes in this pathway
HELLER SILENCED BY METHYLATION UP	282	183	All SZGR 2.0 genes in this pathway
PODAR RESPONSE TO ADAPHOSTIN UP	147	98	All SZGR 2.0 genes in this pathway
VANASSE BCL2 TARGETS UP	40	25	All SZGR 2.0 genes in this pathway
MILI PSEUDOPODIA HAPTOTAXIS UP	518	299	All SZGR 2.0 genes in this pathway
BOYAULT LIVER CANCER SUBCLASS G1 DN	40	26	All SZGR 2.0 genes in this pathway
CHIANG LIVER CANCER SUBCLASS UNANNOTATED UP	85	50	All SZGR 2.0 genes in this pathway
MARSON FOXP3 TARGETS UP	66	43	All SZGR 2.0 genes in this pathway
KYNG NORMAL AGING UP	19	11	All SZGR 2.0 genes in this pathway
KYNG WERNER SYNDROM UP	20	10	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 WITH H3K4ME3	445	257	All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE	1137	655	All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3	824	528	All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN	1080	713	All SZGR 2.0 genes in this pathway
PEDERSEN METASTASIS BY ERBB2 ISOFORM 7	403	240	All SZGR 2.0 genes in this pathway
ZWANG CLASS 3 TRANSIENTLY INDUCED BY EGF	222	159	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-128	908	914	1A	hsa-miR-128a	UCACAGUGAACCGGUCUCUUUU
miR-128	908	914	1A	hsa-miR-128b	UCACAGUGAACCGGUCUCUUUC
miR-135	2495	2501	1A	hsa-miR-135a	UAUGGCUUUUUAUUCCUAUGUGA
miR-135	2495	2501	1A	hsa-miR-135b	UAUGGCUUUUCAUUCCUAUGUG
miR-137	281	287	1A	hsa-miR-137	UAUUGCUUAAGAAUACGCGUAG
miR-18	1055	1061	1A	hsa-miR-18a	UAAGGUGCAUCUAGUGCAGAUA
miR-18	1055	1061	1A	hsa-miR-18b	UAAGGUGCAUCUAGUGCAGUUA
miR-181	1453	1460	1A,m8	hsa-miR-181a^brain	AACAUUCAACGCUGUCGGUGAGU
				hsa-miR-181b^SZ	AACAUUCAUUGCUGUCGGUGGG
				hsa-miR-181c^brain	AACAUUCAACCUGUCGGUGAGU
				hsa-miR-181d^brain	AACAUUCAUUGUUGUCGGUGGGUU
miR-182	2281	2288	1A,m8	hsa-miR-182	UUUGGCAAUGGUAGAACUCACA
miR-186	2487	2493	m8	hsa-miR-186	CAAAGAAUUCUCCUUUUGGGCUU
miR-186	2487	2493	m8	hsa-miR-186	CAAAGAAUUCUCCUUUUGGGCUU
miR-19	589	595	m8	hsa-miR-19a	UGUGCAAAUCUAUGCAAAACUGA
				hsa-miR-19b	UGUGCAAAUCCAUGCAAAACUGA
				hsa-miR-19a	UGUGCAAAUCUAUGCAAAACUGA
				hsa-miR-19b	UGUGCAAAUCCAUGCAAAACUGA
miR-194	792	799	1A,m8	hsa-miR-194	UGUAACAGCAACUCCAUGUGGA
miR-200bc/429	67	73	1A	hsa-miR-200b	UAAUACUGCCUGGUAAUGAUGAC
				hsa-miR-200c	UAAUACUGCCGGGUAAUGAUGG
				hsa-miR-429	UAAUACUGUCUGGUAAAACCGU
miR-203.1	2441	2448	1A,m8	hsa-miR-203	UGAAAUGUUUAGGACCACUAG
miR-203.1	2441	2448	1A,m8	hsa-miR-203	UGAAAUGUUUAGGACCACUAG
miR-216	1447	1453	m8	hsa-miR-216	UAAUCUCAGCUGGCAACUGUG
miR-218	482	489	1A,m8	hsa-miR-218^brain	UUGUGCUUGAUCUAACCAUGU
miR-224	911	917	m8	hsa-miR-224	CAAGUCACUAGUGGUUCCGUUUA
miR-27	908	914	m8	hsa-miR-27a^brain	UUCACAGUGGCUAAGUUCCGC
miR-27	908	914	m8	hsa-miR-27b^brain	UUCACAGUGGCUAAGUUCUGC
miR-30-3p	1492	1498	1A	hsa-miR-30a-3p	CUUUCAGUCGGAUGUUUGCAGC
miR-30-3p	1492	1498	1A	hsa-miR-30e-3p	CUUUCAGUCGGAUGUUUACAGC
miR-30-5p	1170	1176	m8	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-330	2335	2341	m8	hsa-miR-330^brain	GCAAAGCACACGGCCUGCAGAGA
miR-369-3p	634	640	m8	hsa-miR-369-3p	AAUAAUACAUGGUUGAUCUUU
				hsa-miR-369-3p	AAUAAUACAUGGUUGAUCUUU
				hsa-miR-369-3p	AAUAAUACAUGGUUGAUCUUU
miR-374	1114	1120	m8	hsa-miR-374	UUAUAAUACAACCUGAUAAGUG
miR-376c	930	936	1A	hsa-miR-376c	AACAUAGAGGAAAUUCCACG
miR-381	1708	1714	m8	hsa-miR-381	UAUACAAGGGCAAGCUCUCUGU
miR-382	1787	1793	m8	hsa-miR-382^brain	GAAGUUGUUCGUGGUGGAUUCG
miR-410	1116	1122	1A	hsa-miR-410	AAUAUAACACAGAUGGCCUGU
miR-431	2372	2378	1A	hsa-miR-431	UGUCUUGCAGGCCGUCAUGCA
miR-448	2108	2115	1A,m8	hsa-miR-448	UUGCAUAUGUAGGAUGUCCCAU
miR-455	1304	1310	1A	hsa-miR-455	UAUGUGCCUUUGGACUACAUCG
miR-493-5p	2168	2175	1A,m8	hsa-miR-493-5p	UUGUACAUGGUAGGCUUUCAUU
				hsa-miR-493-5p	UUGUACAUGGUAGGCUUUCAUU
				hsa-miR-493-5p	UUGUACAUGGUAGGCUUUCAUU
miR-495	2290	2296	m8	hsa-miR-495^brain	AAACAAACAUGGUGCACUUCUUU
miR-495	2290	2296	m8	hsa-miR-495^brain	AAACAAACAUGGUGCACUUCUUU
miR-496	1456	1462	1A	hsa-miR-496	AUUACAUGGCCAAUCUC
miR-496	1456	1462	1A	hsa-miR-496	AUUACAUGGCCAAUCUC
miR-544	230	237	1A,m8	hsa-miR-544	AUUCUGCAUUUUUAGCAAGU
miR-93.hd/291-3p/294/295/302/372/373/520	2471	2477	m8	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-96	2282	2288	1A	hsa-miR-96^brain	UUUGGCACUAGCACAUUUUUGC

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: MBNL2