SZGR2

Summary ?

GeneID	2036
Symbol	EPB41L1
Synonyms	4.1N\|MRD11
Description	erythrocyte membrane protein band 4.1-like 1
Reference	MIM:602879\|HGNC:HGNC:3378\|Ensembl:ENSG00000088367\|HPRD:04193\|Vega:OTTHUMG00000032378
Gene type	protein-coding
Map location	20q11.2-q12
Pascal p-value	0.914
Sherlock p-value	0.842
Fetal beta	-0.638
eGene	Meta
Support	STRUCTURAL PLASTICITY G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS CompositeSet Darnell FMRP targets Potential synaptic genes

Gene in Data Sources

Gene set name	Method of gene set	Description
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.
Network	Shortest path distance of core genes in the Human protein-protein interaction network	Contribution to shortest path in PPI network: 0.5394

Section I. Genetics and epigenetics annotation

DNM table

Gene	Chromosome	Position	Ref	Alt	Transcript	AA change	Mutation type	Sift	CG46	Trait	Study
EPB41L1	chr20	34797641	G	A	NM_001258329 NM_001258330 NM_001258331 NM_012156 NM_177996	p.634E>K . p.560E>K p.634E>K p.560E>K	missense intronic 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
TRPV6	0.84	0.89
KCNJ11	0.80	0.81
KCNQ4	0.80	0.81
DUSP7	0.79	0.84
GFRA2	0.78	0.80
CACNB1	0.78	0.80
KLC2	0.78	0.78
BAIAP2	0.77	0.81
POU6F1	0.76	0.78
AC021534.1	0.75	0.81

Top 10 negatively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
RAB13	-0.51	-0.61
AF347015.21	-0.50	-0.42
NSBP1	-0.49	-0.55
DBI	-0.48	-0.53
AP002478.3	-0.47	-0.49
GNG11	-0.45	-0.47
AL139819.3	-0.45	-0.45
MYL12A	-0.44	-0.50
AF347015.18	-0.44	-0.39
AF347015.31	-0.43	-0.37

Section III. Gene Ontology annotation

Molecular function	GO term	Evidence	Neuro keywords	PubMed ID
GO:0003779	actin binding	IEA		-
GO:0005488	binding	IEA		-
GO:0005198	structural molecule activity	IEA		-
GO:0008092	cytoskeletal protein binding	IEA		-
Biological process	GO term	Evidence	Neuro keywords	PubMed ID
GO:0030866	cortical actin cytoskeleton organization	IEA		-
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0005856	cytoskeleton	IEA		-
GO:0005737	cytoplasm	IEA		-
GO:0019898	extrinsic to membrane	IEA		-

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
KEGG TIGHT JUNCTION	134	86	All SZGR 2.0 genes in this pathway
PID PI3K PLC TRK PATHWAY	36	31	All SZGR 2.0 genes in this pathway
REACTOME TRANSMISSION ACROSS CHEMICAL SYNAPSES	186	155	All SZGR 2.0 genes in this pathway
REACTOME NEURONAL SYSTEM	279	221	All SZGR 2.0 genes in this pathway
REACTOME NEUROTRANSMITTER RECEPTOR BINDING AND DOWNSTREAM TRANSMISSION IN THE POSTSYNAPTIC CELL	137	110	All SZGR 2.0 genes in this pathway
REACTOME TRAFFICKING OF AMPA RECEPTORS	28	23	All SZGR 2.0 genes in this pathway
SCIBETTA KDM5B TARGETS DN	81	55	All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP	1821	933	All SZGR 2.0 genes in this pathway
GOZGIT ESR1 TARGETS DN	781	465	All SZGR 2.0 genes in this pathway
LIN SILENCED BY TUMOR MICROENVIRONMENT	108	73	All SZGR 2.0 genes in this pathway
ZHANG RESPONSE TO IKK INHIBITOR AND TNF DN	103	64	All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 20Q11 AMPLICON	31	18	All SZGR 2.0 genes in this pathway
ASTIER INTEGRIN SIGNALING	59	44	All SZGR 2.0 genes in this pathway
MOREAUX MULTIPLE MYELOMA BY TACI UP	412	249	All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE UP	249	170	All SZGR 2.0 genes in this pathway
MONNIER POSTRADIATION TUMOR ESCAPE UP	393	244	All SZGR 2.0 genes in this pathway
LEIN LOCALIZED TO DISTAL AND PROXIMAL DENDRITES	17	12	All SZGR 2.0 genes in this pathway
ZHENG IL22 SIGNALING DN	42	26	All SZGR 2.0 genes in this pathway
RAY TUMORIGENESIS BY ERBB2 CDC25A DN	159	105	All SZGR 2.0 genes in this pathway
SHEDDEN LUNG CANCER GOOD SURVIVAL A4	196	124	All SZGR 2.0 genes in this pathway
HAN SATB1 TARGETS DN	442	275	All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME3 AND H3K27ME3	142	103	All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3	1069	729	All SZGR 2.0 genes in this pathway
KOBAYASHI EGFR SIGNALING 24HR UP	101	65	All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS DN	882	538	All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN	1080	713	All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG BOUND 8D	658	397	All SZGR 2.0 genes in this pathway
FORTSCHEGGER PHF8 TARGETS DN	784	464	All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY	1839	928	All SZGR 2.0 genes in this pathway
ZWANG EGF PERSISTENTLY DN	61	36	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	110	116	m8	hsa-miR-101	UACAGUACUGUGAUAACUGAAG
miR-128	1025	1031	1A	hsa-miR-128a	UCACAGUGAACCGGUCUCUUUU
miR-128	1025	1031	1A	hsa-miR-128b	UCACAGUGAACCGGUCUCUUUC
miR-149	39	45	1A	hsa-miR-149^brain	UCUGGCUCCGUGUCUUCACUCC
miR-18	3292	3299	1A,m8	hsa-miR-18a	UAAGGUGCAUCUAGUGCAGAUA
miR-18	3292	3299	1A,m8	hsa-miR-18b	UAAGGUGCAUCUAGUGCAGUUA
miR-199	630	636	m8	hsa-miR-199a	CCCAGUGUUCAGACUACCUGUUC
miR-199	630	636	m8	hsa-miR-199b	CCCAGUGUUUAGACUAUCUGUUC
miR-218	3224	3230	m8	hsa-miR-218^brain	UUGUGCUUGAUCUAACCAUGU
miR-27	4	10	1A	hsa-miR-27a^brain	UUCACAGUGGCUAAGUUCCGC
				hsa-miR-27b^brain	UUCACAGUGGCUAAGUUCUGC
				hsa-miR-27a^brain	UUCACAGUGGCUAAGUUCCGC
				hsa-miR-27b^brain	UUCACAGUGGCUAAGUUCUGC
miR-326	41	47	1A	hsa-miR-326	CCUCUGGGCCCUUCCUCCAG
miR-33	485	491	1A	hsa-miR-33	GUGCAUUGUAGUUGCAUUG
miR-33	485	491	1A	hsa-miR-33b	GUGCAUUGCUGUUGCAUUGCA
miR-381	3411	3418	1A,m8	hsa-miR-381	UAUACAAGGGCAAGCUCUCUGU
miR-431	532	539	1A,m8	hsa-miR-431	UGUCUUGCAGGCCGUCAUGCA
miR-486	181	187	1A	hsa-miR-486	UCCUGUACUGAGCUGCCCCGAG
miR-494	3202	3208	1A	hsa-miR-494^brain	UGAAACAUACACGGGAAACCUCUU
miR-500	896	902	m8	hsa-miR-500	AUGCACCUGGGCAAGGAUUCUG
miR-542-3p	113	119	m8	hsa-miR-542-3p	UGUGACAGAUUGAUAACUGAAA

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: EPB41L1