SZGR2

Summary ?

GeneID	6453
Symbol	ITSN1
Synonyms	ITSN\|SH3D1A\|SH3P17
Description	intersectin 1
Reference	MIM:602442\|HGNC:HGNC:6183\|Ensembl:ENSG00000205726\|HPRD:03898\|Vega:OTTHUMG00000065284
Gene type	protein-coding
Map location	21q22.1-q22.2
Pascal p-value	0.001
TADA p-value	0.004
Fetal beta	1.386
eGene	Caudate basal ganglia
Support	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	Info
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.
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: 2
Network	Shortest path distance of core genes in the Human protein-protein interaction network	Contribution to shortest path in PPI network: 1.0914

Section I. Genetics and epigenetics annotation

DNM table

Gene	Chromosome	Position	Ref	Alt	Transcript	AA change	Mutation type	Sift	CG46	Trait	Study
ITSN1	chr21	35144424	C	T	NM_001001132 NM_003024	p.368R>* p.368R>*	nonsense nonsense			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
SORD	0.80	0.84
CASC3	0.80	0.74
NAB1	0.79	0.81
RPA1	0.79	0.81
BICD1	0.79	0.80
C14orf21	0.78	0.81
KPNB1	0.78	0.79
MYT1	0.78	0.65
ELAVL1	0.78	0.78
BRAP	0.78	0.81

Top 10 negatively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
MT-CO2	-0.54	-0.65
AF347015.31	-0.54	-0.65
FXYD1	-0.54	-0.65
AF347015.8	-0.53	-0.64
AF347015.27	-0.52	-0.63
AF347015.33	-0.52	-0.61
AF347015.21	-0.52	-0.67
MT-CYB	-0.52	-0.62
IFI27	-0.51	-0.63
HIGD1B	-0.50	-0.63

Section III. Gene Ontology annotation

Molecular function	GO term	Evidence	Neuro keywords	PubMed ID
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA		-
GO:0005085	guanyl-nucleotide exchange factor activity	IEA		-
GO:0005085	guanyl-nucleotide exchange factor activity	NAS		9799604
GO:0005509	calcium ion binding	IEA		-
GO:0005509	calcium ion binding	NAS		9799604
GO:0005515	protein binding	IEA		-
GO:0005515	protein binding	IPI		12006984 \|12812986
Biological process	GO term	Evidence	Neuro keywords	PubMed ID
GO:0048488	synaptic vesicle endocytosis	TAS	axon, Synap, Neurotransmitter (GO term level: 7)	9799604
GO:0007242	intracellular signaling cascade	IEA		-
GO:0007264	small GTPase mediated signal transduction	IEA		-
GO:0035023	regulation of Rho protein signal transduction	IEA		-
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0019717	synaptosome	IEA	Synap, Brain (GO term level: 7)	-
GO:0045202	synapse	IEA	neuron, Synap, Neurotransmitter, Glial (GO term level: 2)	-
GO:0012505	endomembrane system	IEA		-
GO:0005622	intracellular	IEA		-
GO:0016020	membrane	IEA		-
GO:0030027	lamellipodium	IEA		-
GO:0030054	cell junction	IEA		-

Section IV. Protein-protein interaction annotation

Interactors	Aliases B	Official full name B	Experimental	Source	PubMed ID
ASAP1	AMAP1 \| CENTB4 \| DDEF1 \| KIAA1249 \| PAG2 \| PAP \| ZG14P	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	DDEF1 (AMAP1) interacts with an unspecified isoform of ITSN1 (Intersectin1).	BIND	15719014
ASAP2	AMAP2 \| CENTB3 \| DDEF2 \| FLJ42910 \| KIAA0400 \| PAG3 \| PAP \| Pap-alpha \| SHAG1	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	DDEF2 (AMAP2) interacts with an unspecified isoform of ITSN1 (Intersectin1).	BIND	15719014
CDC42	CDC42Hs \| G25K	cell division cycle 42 (GTP binding protein, 25kDa)	Cdc42 specifically interacts with Dbl-homology and pleckstrin-homology domains of the nucleotide exchange factor ITSN1.	BIND	12006984
CDC42	CDC42Hs \| G25K	cell division cycle 42 (GTP binding protein, 25kDa)	-	HPRD,BioGRID	11584276
CDGAP	KIAA1204 \| MGC138368 \| MGC138370	Cdc42 GTPase-activating protein	-	HPRD	11744688
DISC1	C1orf136 \| FLJ13381 \| FLJ21640 \| FLJ25311 \| FLJ41105 \| KIAA0457 \| SCZD9	disrupted in schizophrenia 1	DISC-1 interacts with ITSN.	BIND	12812986
DISC1	C1orf136 \| FLJ13381 \| FLJ21640 \| FLJ25311 \| FLJ41105 \| KIAA0457 \| SCZD9	disrupted in schizophrenia 1	Two-hybrid	BioGRID	12812986
DNM1	DNM	dynamin 1	-	HPRD	10373452
EEF1A1	CCS-3 \| CCS3 \| EEF-1 \| EEF1A \| EF-Tu \| EF1A \| FLJ25721 \| GRAF-1EF \| HNGC:16303 \| LENG7 \| MGC102687 \| MGC131894 \| MGC16224 \| PTI1 \| eEF1A-1	eukaryotic translation elongation factor 1 alpha 1	Two-hybrid	BioGRID	16169070
EPHB2	CAPB \| DRT \| EPHT3 \| ERK \| Hek5 \| MGC87492 \| PCBC \| Tyro5	EPH receptor B2	-	HPRD,BioGRID	12389031
KIF5A	D12S1889 \| MY050 \| NKHC \| SPG10	kinesin family member 5A	Two-hybrid	BioGRID	16169070
MRPL20	L20mt \| MGC4779 \| MGC74465 \| MRP-L20	mitochondrial ribosomal protein L20	Two-hybrid	BioGRID	16169070
SCAMP1	SCAMP \| SCAMP37	secretory carrier membrane protein 1	-	HPRD,BioGRID	10777571
SMARCC2	BAF170 \| CRACC2 \| Rsc8	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	Two-hybrid	BioGRID	16169070
SNAP23	HsT17016 \| SNAP23A \| SNAP23B	synaptosomal-associated protein, 23kDa	-	HPRD,BioGRID	10373452
SNAP25	FLJ23079 \| RIC-4 \| RIC4 \| SEC9 \| SNAP \| SNAP-25 \| bA416N4.2 \| dJ1068F16.2	synaptosomal-associated protein, 25kDa	-	HPRD,BioGRID	10373452
SNX5	FLJ10931	sorting nexin 5	Two-hybrid	BioGRID	16169070
SOS1	GF1 \| GGF1 \| GINGF \| HGF \| NS4	son of sevenless homolog 1 (Drosophila)	-	HPRD,BioGRID	10716926
STON2	STN2 \| STNB \| STNB2	stonin 2	-	HPRD,BioGRID	11381094
TSG101	TSG10 \| VPS23	tumor susceptibility gene 101	Two-hybrid	BioGRID	15256501
UNC119	HRG4	unc-119 homolog (C. elegans)	Two-hybrid	BioGRID	16169070
WASL	DKFZp779G0847 \| MGC48327 \| N-WASP \| NWASP	Wiskott-Aldrich syndrome-like	-	HPRD,BioGRID	11584276

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
PID EPHB FWD PATHWAY	40	38	All SZGR 2.0 genes in this pathway
PID CDC42 REG PATHWAY	30	22	All SZGR 2.0 genes in this pathway
PID ERBB1 INTERNALIZATION PATHWAY	41	35	All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY RHO GTPASES	113	81	All SZGR 2.0 genes in this pathway
REACTOME SIGNALLING BY NGF	217	167	All SZGR 2.0 genes in this pathway
REACTOME NRAGE SIGNALS DEATH THROUGH JNK	43	33	All SZGR 2.0 genes in this pathway
REACTOME CELL DEATH SIGNALLING VIA NRAGE NRIF AND NADE	60	43	All SZGR 2.0 genes in this pathway
REACTOME P75 NTR RECEPTOR MEDIATED SIGNALLING	81	61	All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY GPCR	920	449	All SZGR 2.0 genes in this pathway
REACTOME G ALPHA1213 SIGNALLING EVENTS	74	56	All SZGR 2.0 genes in this pathway
REACTOME GPCR DOWNSTREAM SIGNALING	805	368	All SZGR 2.0 genes in this pathway
PIEPOLI LGI1 TARGETS DN	14	6	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
GOZGIT ESR1 TARGETS UP	149	84	All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE DN	485	334	All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION UP	552	347	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
SHETH LIVER CANCER VS TXNIP LOSS PAM5	94	59	All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 240 MCF10A	20	13	All SZGR 2.0 genes in this pathway
AMIT SERUM RESPONSE 60 MCF10A	57	42	All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL TRANS	882	572	All SZGR 2.0 genes in this pathway
MATSUDA NATURAL KILLER DIFFERENTIATION	475	313	All SZGR 2.0 genes in this pathway
MOREAUX MULTIPLE MYELOMA BY TACI UP	412	249	All SZGR 2.0 genes in this pathway
KUMAR TARGETS OF MLL AF9 FUSION	405	264	All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE UP	249	170	All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 DN	830	547	All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP	1691	1088	All SZGR 2.0 genes in this pathway
ZHU CMV 8 HR DN	53	40	All SZGR 2.0 genes in this pathway
WEIGEL OXIDATIVE STRESS BY HNE AND TBH	60	42	All SZGR 2.0 genes in this pathway
ZHU CMV ALL DN	128	93	All SZGR 2.0 genes in this pathway
DEBIASI APOPTOSIS BY REOVIRUS INFECTION DN	287	208	All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 1	419	273	All SZGR 2.0 genes in this pathway
GAVIN FOXP3 TARGETS CLUSTER P3	160	103	All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS SILENCED BY METHYLATION UP	461	298	All SZGR 2.0 genes in this pathway
ACEVEDO METHYLATED IN LIVER CANCER DN	940	425	All SZGR 2.0 genes in this pathway
BONOME OVARIAN CANCER SURVIVAL OPTIMAL DEBULKING	246	152	All SZGR 2.0 genes in this pathway
YAUCH HEDGEHOG SIGNALING PARACRINE DN	264	159	All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA C D UP	139	95	All SZGR 2.0 genes in this pathway
GOLDRATH ANTIGEN RESPONSE	346	192	All SZGR 2.0 genes in this pathway
RUIZ TNC TARGETS UP	153	107	All SZGR 2.0 genes in this pathway
KYNG WERNER SYNDROM AND NORMAL AGING DN	225	124	All SZGR 2.0 genes in this pathway
ZHAN MULTIPLE MYELOMA MF DN	41	28	All SZGR 2.0 genes in this pathway
WONG ADULT TISSUE STEM MODULE	721	492	All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS UP	504	321	All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 AND SATB1 DN	180	116	All SZGR 2.0 genes in this pathway
IKEDA MIR30 TARGETS UP	116	87	All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 36HR	152	88	All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D	882	506	All SZGR 2.0 genes in this pathway
FOSTER KDM1A TARGETS UP	266	142	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	164	170	1A	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-10	246	253	1A,m8	hsa-miR-10a	UACCCUGUAGAUCCGAAUUUGUG
miR-10	246	253	1A,m8	hsa-miR-10b	UACCCUGUAGAACCGAAUUUGU
miR-141/200a	502	509	1A,m8	hsa-miR-141	UAACACUGUCUGGUAAAGAUGG
miR-141/200a	502	509	1A,m8	hsa-miR-200a	UAACACUGUCUGGUAACGAUGU
miR-150	82	88	1A	hsa-miR-150	UCUCCCAACCCUUGUACCAGUG
miR-181	1013	1019	1A	hsa-miR-181a^brain	AACAUUCAACGCUGUCGGUGAGU
				hsa-miR-181b^SZ	AACAUUCAUUGCUGUCGGUGGG
				hsa-miR-181c^brain	AACAUUCAACCUGUCGGUGAGU
				hsa-miR-181d^brain	AACAUUCAUUGUUGUCGGUGGGUU
miR-19	752	759	1A,m8	hsa-miR-19a	UGUGCAAAUCUAUGCAAAACUGA
miR-19	752	759	1A,m8	hsa-miR-19b	UGUGCAAAUCCAUGCAAAACUGA
miR-190	59	65	1A	hsa-miR-190	UGAUAUGUUUGAUAUAUUAGGU
miR-194	937	944	1A,m8	hsa-miR-194	UGUAACAGCAACUCCAUGUGGA
miR-224	104	110	m8	hsa-miR-224	CAAGUCACUAGUGGUUCCGUUUA
miR-30-5p	1048	1055	1A,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-326	69	75	m8	hsa-miR-326	CCUCUGGGCCCUUCCUCCAG
miR-34/449	64	70	m8	hsa-miR-34a^brain	UGGCAGUGUCUUAGCUGGUUGUU
				hsa-miR-34c	AGGCAGUGUAGUUAGCUGAUUGC
				hsa-miR-449	UGGCAGUGUAUUGUUAGCUGGU
				hsa-miR-449b	AGGCAGUGUAUUGUUAGCUGGC
miR-34b	126	132	m8	hsa-miR-34b	UAGGCAGUGUCAUUAGCUGAUUG

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: ITSN1