Gene Page: POLE

Summary ?
GeneID5426
SymbolPOLE
SynonymsCRCS12|FILS|POLE1
Descriptionpolymerase (DNA) epsilon, catalytic subunit
ReferenceMIM:174762|HGNC:HGNC:9177|Ensembl:ENSG00000177084|HPRD:07177|Vega:OTTHUMG00000168045
Gene typeprotein-coding
Map location12q24.3
Pascal p-value0.047
Fetal beta1.895
eGeneAnterior cingulate cortex BA24
Caudate basal ganglia
Cerebellar Hemisphere
Cerebellum
Cortex
Frontal Cortex BA9
Nucleus accumbens basal ganglia
Meta
SupportAscano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophrenics,schizotypy,schizophrenias,schizotypalClick to show details

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs574478612133248206POLEENSG00000177084.123.9832E-70.0215739gtex_brain_ba24
rs1114701212133292745POLEENSG00000177084.125.57378E-70.02-28800gtex_brain_ba24
rs488360712133293284POLEENSG00000177084.126.39522E-70.02-29339gtex_brain_ba24
rs748619712133293611POLEENSG00000177084.121.22257E-60.02-29666gtex_brain_ba24
rs1114701712133298215POLEENSG00000177084.121.56953E-60.02-34270gtex_brain_ba24
rs1114701812133298217POLEENSG00000177084.121.56953E-60.02-34272gtex_brain_ba24
rs1114702012133301105POLEENSG00000177084.128.62736E-70.02-37160gtex_brain_ba24
rs713823512133313237POLEENSG00000177084.121.6418E-60.02-49292gtex_brain_ba24

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 V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG PURINE METABOLISM 15996All SZGR 2.0 genes in this pathway
KEGG PYRIMIDINE METABOLISM 9853All SZGR 2.0 genes in this pathway
KEGG DNA REPLICATION 3621All SZGR 2.0 genes in this pathway
KEGG BASE EXCISION REPAIR 3522All SZGR 2.0 genes in this pathway
KEGG NUCLEOTIDE EXCISION REPAIR 4425All SZGR 2.0 genes in this pathway
REACTOME ACTIVATION OF THE PRE REPLICATIVE COMPLEX 3116All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE 421253All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE MITOTIC 325185All SZGR 2.0 genes in this pathway
REACTOME TRANSCRIPTION COUPLED NER TC NER 4524All SZGR 2.0 genes in this pathway
REACTOME M G1 TRANSITION 8145All SZGR 2.0 genes in this pathway
REACTOME G1 S TRANSITION 11263All SZGR 2.0 genes in this pathway
REACTOME NUCLEOTIDE EXCISION REPAIR 5127All SZGR 2.0 genes in this pathway
REACTOME REPAIR SYNTHESIS FOR GAP FILLING BY DNA POL IN TC NER 1411All SZGR 2.0 genes in this pathway
REACTOME SYNTHESIS OF DNA 9253All SZGR 2.0 genes in this pathway
REACTOME MITOTIC G1 G1 S PHASES 13779All SZGR 2.0 genes in this pathway
REACTOME MITOTIC M M G1 PHASES 17298All SZGR 2.0 genes in this pathway
REACTOME DNA REPAIR 11259All SZGR 2.0 genes in this pathway
REACTOME CHROMOSOME MAINTENANCE 12280All SZGR 2.0 genes in this pathway
REACTOME GLOBAL GENOMIC NER GG NER 3520All SZGR 2.0 genes in this pathway
REACTOME DNA REPLICATION 192110All SZGR 2.0 genes in this pathway
REACTOME TELOMERE MAINTENANCE 7557All SZGR 2.0 genes in this pathway
REACTOME EXTENSION OF TELOMERES 2717All SZGR 2.0 genes in this pathway
REACTOME S PHASE 10966All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS BASAL UP 380215All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 1 DN 242165All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 DN 281186All SZGR 2.0 genes in this pathway
ENK UV RESPONSE EPIDERMIS UP 293179All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 1 DN 378231All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN DN 770415All SZGR 2.0 genes in this pathway
WAKASUGI HAVE ZNF143 BINDING SITES 5833All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN UP 479299All 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
BENPORATH SUZ12 TARGETS 1038678All SZGR 2.0 genes in this pathway
BENPORATH EED TARGETS 1062725All SZGR 2.0 genes in this pathway
BENPORATH ES WITH H3K27ME3 1118744All SZGR 2.0 genes in this pathway
BENPORATH PRC2 TARGETS 652441All SZGR 2.0 genes in this pathway
LEE TARGETS OF PTCH1 AND SUFU UP 5337All SZGR 2.0 genes in this pathway
KAUFFMANN DNA REPAIR GENES 230137All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 12Q24 AMPLICON 157All SZGR 2.0 genes in this pathway
ALCALAY AML BY NPM1 LOCALIZATION DN 184132All SZGR 2.0 genes in this pathway
VERHAAK AML WITH NPM1 MUTATED DN 246180All SZGR 2.0 genes in this pathway
BILD E2F3 ONCOGENIC SIGNATURE 246153All SZGR 2.0 genes in this pathway
SANSOM APC TARGETS 212121All SZGR 2.0 genes in this pathway
SANSOM APC MYC TARGETS 217138All SZGR 2.0 genes in this pathway
SANSOM APC TARGETS REQUIRE MYC 210123All SZGR 2.0 genes in this pathway
RIZKI TUMOR INVASIVENESS 3D UP 210124All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER DN 540340All SZGR 2.0 genes in this pathway
TOYOTA TARGETS OF MIR34B AND MIR34C 463262All SZGR 2.0 genes in this pathway
ZHENG GLIOBLASTOMA PLASTICITY UP 250168All SZGR 2.0 genes in this pathway
BLUM RESPONSE TO SALIRASIB DN 342220All SZGR 2.0 genes in this pathway
FRASOR RESPONSE TO SERM OR FULVESTRANT DN 5029All SZGR 2.0 genes in this pathway
WALLACE JAK2 TARGETS UP 2615All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 36HR DN 185116All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 60HR DN 277166All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS DN 8950All SZGR 2.0 genes in this pathway
COLINA TARGETS OF 4EBP1 AND 4EBP2 356214All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR UP 324193All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS DN 553343All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION UP 570339All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D 882506All SZGR 2.0 genes in this pathway
KRIEG HYPOXIA NOT VIA KDM3A 770480All SZGR 2.0 genes in this pathway