Summary ?
GeneID9700
SymbolESPL1
SynonymsESP1|SEPA
Descriptionextra spindle pole bodies like 1, separase
ReferenceMIM:604143|HGNC:HGNC:16856|Ensembl:ENSG00000135476|HPRD:06825|Vega:OTTHUMG00000169674
Gene typeprotein-coding
Map location12q
Pascal p-value0.005
eGeneCaudate basal ganglia
Hypothalamus
Nucleus accumbens basal ganglia
Putamen basal ganglia
SupportAscano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs65809391253658515ESPL1ENSG00000135476.77.561E-70.01-3568gtex_brain_putamen_basal
rs73112171253658721ESPL1ENSG00000135476.77.368E-70.01-3362gtex_brain_putamen_basal
rs73989961253659448ESPL1ENSG00000135476.77.608E-70.01-2635gtex_brain_putamen_basal
rs73990031253659536ESPL1ENSG00000135476.72.692E-60.01-2547gtex_brain_putamen_basal
rs73982281253660285ESPL1ENSG00000135476.77.602E-70.01-1798gtex_brain_putamen_basal
rs19769381253661925ESPL1ENSG00000135476.77.602E-70.01-158gtex_brain_putamen_basal
rs65809411253662199ESPL1ENSG00000135476.72.481E-60.01116gtex_brain_putamen_basal
rs65809421253662624ESPL1ENSG00000135476.76.642E-70.01541gtex_brain_putamen_basal
rs47589651253662735ESPL1ENSG00000135476.72.803E-60.01652gtex_brain_putamen_basal
rs2011376051253664955ESPL1ENSG00000135476.78.494E-70.012872gtex_brain_putamen_basal
rs111704941253665164ESPL1ENSG00000135476.72.692E-60.013081gtex_brain_putamen_basal
rs111704951253665202ESPL1ENSG00000135476.72.803E-60.013119gtex_brain_putamen_basal
rs47590861253666713ESPL1ENSG00000135476.77.602E-70.014630gtex_brain_putamen_basal
rs107476621253669821ESPL1ENSG00000135476.78.548E-70.017738gtex_brain_putamen_basal
rs720966981253673425ESPL1ENSG00000135476.76.206E-70.0111342gtex_brain_putamen_basal
rs13796101253681683ESPL1ENSG00000135476.77.661E-70.0119600gtex_brain_putamen_basal
rs10566921253687387ESPL1ENSG00000135476.73.471E-60.0125304gtex_brain_putamen_basal
rs356048171253692252ESPL1ENSG00000135476.71.731E-60.0130169gtex_brain_putamen_basal
rs26948581253801141ESPL1ENSG00000135476.73.478E-60.01139058gtex_brain_putamen_basal
rs26835191253801142ESPL1ENSG00000135476.73.721E-60.01139059gtex_brain_putamen_basal
rs26835231253815822ESPL1ENSG00000135476.73.507E-70.01153739gtex_brain_putamen_basal
rs8092221253826285ESPL1ENSG00000135476.72.094E-70.01164202gtex_brain_putamen_basal
rs26835141253842472ESPL1ENSG00000135476.78.573E-70.01180389gtex_brain_putamen_basal

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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
GenePearson's Correlation Spearman's Correlation
PRKACA0.800.79
SLC25A270.770.75
DDX240.770.73
KIAA0319L0.760.74
SRPR0.760.77
DYNLL20.760.77
ENO20.750.74
MAGEE10.750.75
NFE2L10.750.75
GPI0.750.74
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.21-0.53-0.43
C16orf74-0.49-0.48
IL32-0.48-0.43
GNG11-0.48-0.44
AF347015.18-0.46-0.35
C1orf54-0.46-0.45
CLEC3B-0.45-0.48
C1orf61-0.45-0.47
PLA2G5-0.45-0.36
AF347015.31-0.45-0.37

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIPI12194817 |12672959 
GO:0008234cysteine-type peptidase activityNAS12672959 
GO:0008233peptidase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0045143homologous chromosome segregationIEASynap (GO term level: 10)-
GO:0000070mitotic sister chromatid segregationIMP12672959 
GO:0000212meiotic spindle organizationIEA-
GO:0000910cytokinesisNAS11509732 
GO:0006508proteolysisIEA-
GO:0006915apoptosisTAS11875078 
GO:0007059chromosome segregationIEA-
GO:0040001establishment of mitotic spindle localizationNAS12672959 
GO:0045875negative regulation of sister chromatid cohesionNAS12194817 
GO:0045842positive regulation of mitotic metaphase/anaphase transitionNAS12672959 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005813centrosomeIDA12672959 
GO:0005634nucleusIEA-
GO:0005737cytoplasmIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG CELL CYCLE 12884All SZGR 2.0 genes in this pathway
KEGG OOCYTE MEIOSIS 11479All SZGR 2.0 genes in this pathway
SOTIRIOU BREAST CANCER GRADE 1 VS 3 UP 15184All SZGR 2.0 genes in this pathway
CASORELLI ACUTE PROMYELOCYTIC LEUKEMIA DN 663425All SZGR 2.0 genes in this pathway
HORIUCHI WTAP TARGETS DN 310188All SZGR 2.0 genes in this pathway
GAL LEUKEMIC STEM CELL DN 244153All SZGR 2.0 genes in this pathway
BASAKI YBX1 TARGETS UP 290177All SZGR 2.0 genes in this pathway
GARGALOVIC RESPONSE TO OXIDIZED PHOSPHOLIPIDS TURQUOISE DN 5325All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 UP 418263All SZGR 2.0 genes in this pathway
TIEN INTESTINE PROBIOTICS 24HR UP 557331All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278748All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS DN 459276All SZGR 2.0 genes in this pathway
GRAHAM CML DIVIDING VS NORMAL QUIESCENT UP 181101All SZGR 2.0 genes in this pathway
ENK UV RESPONSE EPIDERMIS UP 293179All SZGR 2.0 genes in this pathway
CONCANNON APOPTOSIS BY EPOXOMICIN DN 172112All SZGR 2.0 genes in this pathway
MISSIAGLIA REGULATED BY METHYLATION DN 12267All SZGR 2.0 genes in this pathway
ROSTY CERVICAL CANCER PROLIFERATION CLUSTER 14073All SZGR 2.0 genes in this pathway
PATIL LIVER CANCER 747453All SZGR 2.0 genes in this pathway
YORDY RECIPROCAL REGULATION BY ETS1 AND SP100 DN 8748All SZGR 2.0 genes in this pathway
PUJANA XPRSS INT NETWORK 168103All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
PUJANA BRCA2 PCC NETWORK 423265All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK 1442892All SZGR 2.0 genes in this pathway
PUJANA CHEK2 PCC NETWORK 779480All SZGR 2.0 genes in this pathway
PUJANA BRCA CENTERED NETWORK 11772All SZGR 2.0 genes in this pathway
FERREIRA EWINGS SARCOMA UNSTABLE VS STABLE UP 16792All SZGR 2.0 genes in this pathway
BENPORATH CYCLING GENES 648385All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS DN 357212All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS PLASMABLAST DN 309206All SZGR 2.0 genes in this pathway
PENG GLUCOSE DEPRIVATION DN 169112All SZGR 2.0 genes in this pathway
LI WILMS TUMOR VS FETAL KIDNEY 1 DN 163115All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS LATE PROGENITOR 544307All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 UP 428266All SZGR 2.0 genes in this pathway
KRASNOSELSKAYA ILF3 TARGETS DN 4638All SZGR 2.0 genes in this pathway
MONNIER POSTRADIATION TUMOR ESCAPE UP 393244All SZGR 2.0 genes in this pathway
MARSON BOUND BY E2F4 UNSTIMULATED 728415All SZGR 2.0 genes in this pathway
AMUNDSON GAMMA RADIATION RESPONSE 4025All SZGR 2.0 genes in this pathway
SARRIO EPITHELIAL MESENCHYMAL TRANSITION UP 180114All SZGR 2.0 genes in this pathway
BONOME OVARIAN CANCER SURVIVAL SUBOPTIMAL DEBULKING 510309All SZGR 2.0 genes in this pathway
WHITEFORD PEDIATRIC CANCER MARKERS 11663All SZGR 2.0 genes in this pathway
GRADE COLON VS RECTAL CANCER DN 5636All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL TUMOR UP 294199All SZGR 2.0 genes in this pathway
BLUM RESPONSE TO SALIRASIB DN 342220All SZGR 2.0 genes in this pathway
FLOTHO PEDIATRIC ALL THERAPY RESPONSE DN 2917All SZGR 2.0 genes in this pathway
COLINA TARGETS OF 4EBP1 AND 4EBP2 356214All SZGR 2.0 genes in this pathway
CHEN METABOLIC SYNDROM NETWORK 1210725All SZGR 2.0 genes in this pathway
YAGI AML WITH T 8 21 TRANSLOCATION 368247All SZGR 2.0 genes in this pathway
SAKAI CHRONIC HEPATITIS VS LIVER CANCER UP 8363All SZGR 2.0 genes in this pathway
KOBAYASHI EGFR SIGNALING 24HR DN 251151All SZGR 2.0 genes in this pathway
NAKAYAMA SOFT TISSUE TUMORS PCA2 UP 8750All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE G2 182102All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR UP 324193All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION UP 570339All SZGR 2.0 genes in this pathway
YANG BCL3 TARGETS UP 364236All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725838All SZGR 2.0 genes in this pathway