Summary ?
GeneID274
SymbolBIN1
SynonymsAMPH2|AMPHL|SH3P9
Descriptionbridging integrator 1
ReferenceMIM:601248|HGNC:HGNC:1052|Ensembl:ENSG00000136717|HPRD:03150|Vega:OTTHUMG00000131465
Gene typeprotein-coding
Map location2q14
Pascal p-value0.009
Sherlock p-value0.956
Fetal beta-1.322
DMG2 (# studies)
eGeneCerebellar Hemisphere
Cerebellum
Myers' cis & trans
SupportG2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.human_clathrin
G2Cdb.human_Synaptosome
CompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:vanEijk_2014Genome-wide DNA methylation analysisThis dataset includes 432 differentially methylated CpG sites corresponding to 391 unique transcripts between schizophrenia patients (n=260) and unaffected controls (n=250). 3
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 3
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IGenome scan meta-analysisPsr: 0.023 
GSMA_IIAGenome scan meta-analysis (All samples)Psr: 0.00755 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophreniasClick to show details
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.005 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg060210882127822551BIN14.214E-4-0.360.045DMG:Wockner_2014
cg171050142127413363BIN13.03E-54.909DMG:vanEijk_2014
cg171050142127413363BIN19.35E-54.417DMG:vanEijk_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs1578978chr8118196802BIN12740.18trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0030100regulation of endocytosisIEA-
GO:0008283cell proliferationTAS8782822 
GO:0007275multicellular organismal developmentIEA-
GO:0030154cell differentiationIEA-
GO:0045786negative regulation of cell cycleIEA-
GO:0044419interspecies interaction between organismsIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005634nucleusIEA-
GO:0005737cytoplasmIEA-
GO:0015629actin cytoskeletonTAS9182667 

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ABL1ABL | JTK7 | bcr/abl | c-ABL | p150 | v-ablc-abl oncogene 1, receptor tyrosine kinase-HPRD9356459 
AMPHAMPH1amphiphysin-HPRD,BioGRID9348539 
AP2A1ADTAA | AP2-ALPHA | CLAPA1adaptor-related protein complex 2, alpha 1 subunit-HPRD9280305 
AP2A2ADTAB | CLAPA2 | HIP9 | HYPJadaptor-related protein complex 2, alpha 2 subunit-HPRD10430869 
BIN1AMPH2 | AMPHL | DKFZp547F068 | MGC10367 | SH3P9bridging integrator 1-HPRD,BioGRID10391921 
CUX1CASP | CDP | CDP/Cut | CDP1 | COY1 | CUTL1 | CUX | Clox | Cux/CDP | GOLIM6 | Nbla10317 | p100 | p110 | p200 | p75cut-like homeobox 1Two-hybridBioGRID16169070 
DNM1DNMdynamin 1-HPRD,BioGRID9195986 |9280305 
ITGA1CD49a | VLA1integrin, alpha 1-HPRD,BioGRID10094488 
ITGA3CD49C | FLJ34631 | FLJ34704 | GAP-B3 | GAPB3 | MSK18 | VCA-2 | VL3A | VLA3aintegrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)-HPRD,BioGRID10094488 
MAP4K3GLK | MAPKKKK3 | RAB8IPL1mitogen-activated protein kinase kinase kinase kinase 3-HPRD11384986 
PLD1-phospholipase D1, phosphatidylcholine-specificPhenotypic Suppression
Reconstituted Complex
BioGRID10764771 
PLD2-phospholipase D2-HPRD,BioGRID10764771 
PTK2FADK | FAK | FAK1 | pp125FAKPTK2 protein tyrosine kinase 2-HPRD,BioGRID12558988 
RIN2RASSF4Ras and Rab interactor 2-HPRD12972505 
RIN3DKFZp762H1613 | FLJ11700 | FLJ22439Ras and Rab interactor 3-HPRD,BioGRID12972505 
SH3GL2CNSA2 | EEN-B1 | FLJ20276 | FLJ25015 | SH3D2A | SH3P4SH3-domain GRB2-like 2-HPRD9315708 
SH3GL2CNSA2 | EEN-B1 | FLJ20276 | FLJ25015 | SH3D2A | SH3P4SH3-domain GRB2-like 2Reconstituted ComplexBioGRID12456676 
SH3GLB1Bif-1 | CGI-61 | KIAA0491 | dJ612B15.2SH3-domain GRB2-like endophilin B1-HPRD,BioGRID12456676 
SNX4-sorting nexin 4-HPRD,BioGRID12668730 
SYN1SYN1a | SYN1b | SYNIsynapsin I-HPRD,BioGRID10899172 
SYNJ1INPP5Gsynaptojanin 1-HPRD,BioGRID9195986 |9341169 
XRCC5FLJ39089 | KARP-1 | KARP1 | KU80 | KUB2 | Ku86 | NFIVX-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)Co-purificationBioGRID17671430 
XRCC6CTC75 | CTCBF | G22P1 | KU70 | ML8 | TLAAX-ray repair complementing defective repair in Chinese hamster cells 6Co-purificationBioGRID17671430 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
BIOCARTA NDKDYNAMIN PATHWAY 2115All SZGR 2.0 genes in this pathway
PID P73PATHWAY 7959All SZGR 2.0 genes in this pathway
PID ARF6 TRAFFICKING PATHWAY 4934All SZGR 2.0 genes in this pathway
PARENT MTOR SIGNALING UP 567375All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA UP 783507All SZGR 2.0 genes in this pathway
PRAMOONJAGO SOX4 TARGETS DN 5135All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS BASAL DN 455304All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL DN 460312All SZGR 2.0 genes in this pathway
GAL LEUKEMIC STEM CELL UP 13378All SZGR 2.0 genes in this pathway
RODRIGUES NTN1 TARGETS DN 158102All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 1 DN 242165All SZGR 2.0 genes in this pathway
ODONNELL TFRC TARGETS UP 456228All SZGR 2.0 genes in this pathway
BIDUS METASTASIS DN 16193All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
BEGUM TARGETS OF PAX3 FOXO1 FUSION DN 4534All SZGR 2.0 genes in this pathway
EBAUER TARGETS OF PAX3 FOXO1 FUSION UP 207128All SZGR 2.0 genes in this pathway
EBAUER MYOGENIC TARGETS OF PAX3 FOXO1 FUSION 5026All SZGR 2.0 genes in this pathway
STARK PREFRONTAL CORTEX 22Q11 DELETION UP 195138All SZGR 2.0 genes in this pathway
AMIT EGF RESPONSE 480 HELA 164118All SZGR 2.0 genes in this pathway
ONDER CDH1 TARGETS 2 UP 256159All SZGR 2.0 genes in this pathway
ONDER CDH1 SIGNALING VIA CTNNB1 8358All SZGR 2.0 genes in this pathway
ASTON MAJOR DEPRESSIVE DISORDER DN 160110All SZGR 2.0 genes in this pathway
BASSO B LYMPHOCYTE NETWORK 14396All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS B LYMPHOCYTE DN 3825All SZGR 2.0 genes in this pathway
FERRANDO T ALL WITH MLL ENL FUSION UP 8767All SZGR 2.0 genes in this pathway
BROWN MYELOID CELL DEVELOPMENT DN 12986All SZGR 2.0 genes in this pathway
REN ALVEOLAR RHABDOMYOSARCOMA UP 9864All SZGR 2.0 genes in this pathway
MODY HIPPOCAMPUS POSTNATAL 6350All SZGR 2.0 genes in this pathway
RAMALHO STEMNESS DN 7455All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
DELASERNA MYOD TARGETS UP 8951All SZGR 2.0 genes in this pathway
JACKSON DNMT1 TARGETS UP 7757All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 3 720440All SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS SILENCED BY METHYLATION UP 461298All SZGR 2.0 genes in this pathway
AMBROSINI FLAVOPIRIDOL TREATMENT TP53 10963All SZGR 2.0 genes in this pathway
SMID BREAST CANCER LUMINAL B DN 564326All SZGR 2.0 genes in this pathway
SMID BREAST CANCER NORMAL LIKE UP 476285All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
VANTVEER BREAST CANCER ESR1 DN 240153All SZGR 2.0 genes in this pathway
WALLACE JAK2 TARGETS UP 2615All SZGR 2.0 genes in this pathway
HOFFMANN PRE BI TO LARGE PRE BII LYMPHOCYTE DN 7561All SZGR 2.0 genes in this pathway
YAGI AML WITH INV 16 TRANSLOCATION 422277All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS OLIGODENDROCYTE NUMBER CORR UP 756494All SZGR 2.0 genes in this pathway
KIM BIPOLAR DISORDER OLIGODENDROCYTE DENSITY CORR UP 682440All SZGR 2.0 genes in this pathway
WIERENGA STAT5A TARGETS DN 213127All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 UP 344215All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-22362368m8hsa-miR-22brainAAGCUGCCAGUUGAAGAACUGU
miR-37727331Ahsa-miR-377AUCACACAAAGGCAACUUUUGU
miR-91471531Ahsa-miR-9SZUCUUUGGUUAUCUAGCUGUAUGA