Summary ?
GeneID29894
SymbolCPSF1
SynonymsCPSF160|HSU37012|P/cl.18
Descriptioncleavage and polyadenylation specific factor 1
ReferenceMIM:606027|HGNC:HGNC:2324|Ensembl:ENSG00000071894|HPRD:05823|Vega:OTTHUMG00000174612
Gene typeprotein-coding
Map location8q24.23
Pascal p-value0.146
Sherlock p-value0.004
Fetal beta0.106
eGeneAnterior cingulate cortex BA24
Caudate basal ganglia
Cerebellar Hemisphere
Cerebellum
Cortex
Frontal Cortex BA9
Hippocampus
Hypothalamus
Nucleus accumbens basal ganglia
Putamen basal ganglia
Meta
SupportAscano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs119915248145573172CPSF1ENSG00000071894.102.732E-7061581gtex_brain_ba24
rs70163358145574775CPSF1ENSG00000071894.103.614E-6059978gtex_brain_ba24
rs120567258145575487CPSF1ENSG00000071894.101.02E-11059266gtex_brain_ba24
rs5458888598145575977CPSF1ENSG00000071894.105.182E-13058776gtex_brain_ba24
rs119917248145576148CPSF1ENSG00000071894.104.764E-13058605gtex_brain_ba24
rs8807018145577824CPSF1ENSG00000071894.105.693E-14056929gtex_brain_ba24
rs8807028145577829CPSF1ENSG00000071894.105.698E-14056924gtex_brain_ba24
rs22726648145577999CPSF1ENSG00000071894.104.273E-14056754gtex_brain_ba24
rs22726638145578296CPSF1ENSG00000071894.105.237E-12056457gtex_brain_ba24
rs22726668145580984CPSF1ENSG00000071894.103.791E-14053769gtex_brain_ba24
rs22808408145581557CPSF1ENSG00000071894.106.422E-14053196gtex_brain_ba24
rs38176818145582839CPSF1ENSG00000071894.103.064E-9051914gtex_brain_ba24
rs43131958145586285CPSF1ENSG00000071894.103.969E-14048468gtex_brain_ba24
rs78387668145586771CPSF1ENSG00000071894.105.649E-14047982gtex_brain_ba24
rs562514148145587409CPSF1ENSG00000071894.101.663E-11047344gtex_brain_ba24
rs70146848145587615CPSF1ENSG00000071894.103.827E-13047138gtex_brain_ba24
rs73875638145589498CPSF1ENSG00000071894.105.44E-14045255gtex_brain_ba24
rs100932028145592444CPSF1ENSG00000071894.103.83E-14042309gtex_brain_ba24
rs2011059768145594353CPSF1ENSG00000071894.105.408E-14040400gtex_brain_ba24
rs74604258145594354CPSF1ENSG00000071894.107.753E-14040399gtex_brain_ba24
rs756744228145596535CPSF1ENSG00000071894.101.528E-14038218gtex_brain_ba24
rs1842782648145596624CPSF1ENSG00000071894.104.03E-9038129gtex_brain_ba24
rs43809788145599466CPSF1ENSG00000071894.106.069E-14035287gtex_brain_ba24
rs358170958145600697CPSF1ENSG00000071894.102.593E-8034056gtex_brain_ba24
rs125488428145602166CPSF1ENSG00000071894.102.585E-8032587gtex_brain_ba24
rs101116548145602304CPSF1ENSG00000071894.101.308E-14032449gtex_brain_ba24
rs65995288145603114CPSF1ENSG00000071894.103.791E-14031639gtex_brain_ba24
rs126820238145609354CPSF1ENSG00000071894.103.248E-8025399gtex_brain_ba24
rs78145458145610618CPSF1ENSG00000071894.108.119E-13024135gtex_brain_ba24
rs625304068145610890CPSF1ENSG00000071894.102.524E-14023863gtex_brain_ba24
rs70105368145611530CPSF1ENSG00000071894.103.371E-11023223gtex_brain_ba24
rs726976068145611531CPSF1ENSG00000071894.107.178E-7023222gtex_brain_ba24
rs70156838145611719CPSF1ENSG00000071894.102.764E-14023034gtex_brain_ba24
rs342471318145613959CPSF1ENSG00000071894.109.593E-12020794gtex_brain_ba24
rs13830958145615776CPSF1ENSG00000071894.103.479E-8018977gtex_brain_ba24
rs5634153908145617534CPSF1ENSG00000071894.103.205E-7017219gtex_brain_ba24
rs10529518145618309CPSF1ENSG00000071894.102.083E-7016444gtex_brain_ba24
rs10529528145618312CPSF1ENSG00000071894.102.601E-7016441gtex_brain_ba24
rs18715328145618597CPSF1ENSG00000071894.103.055E-8016156gtex_brain_ba24
rs22726618145618862CPSF1ENSG00000071894.101.417E-8015891gtex_brain_ba24
rs22808378145620296CPSF1ENSG00000071894.102.315E-15014457gtex_brain_ba24
rs22808368145621556CPSF1ENSG00000071894.103.034E-14013197gtex_brain_ba24
rs29778358145622923CPSF1ENSG00000071894.101.026E-8011830gtex_brain_ba24
rs29778348145623098CPSF1ENSG00000071894.101.026E-8011655gtex_brain_ba24
rs614128478145623382CPSF1ENSG00000071894.102.813E-7011371gtex_brain_ba24
rs562931428145623446CPSF1ENSG00000071894.109.175E-8011307gtex_brain_ba24
rs73881258145623622CPSF1ENSG00000071894.104.514E-7011131gtex_brain_ba24
rs5274385008145623881CPSF1ENSG00000071894.101.15E-7010872gtex_brain_ba24
rs43176148145623963CPSF1ENSG00000071894.103.082E-8010790gtex_brain_ba24
rs22939638145624640CPSF1ENSG00000071894.103.05E-8010113gtex_brain_ba24
rs22911358145625283CPSF1ENSG00000071894.101.679E-1409470gtex_brain_ba24
rs1411409658145625538CPSF1ENSG00000071894.104.269E-709215gtex_brain_ba24
rs58958108145627556CPSF1ENSG00000071894.102.543E-607197gtex_brain_ba24
rs19712508145627795CPSF1ENSG00000071894.101.061E-1106958gtex_brain_ba24
rs100965248145629497CPSF1ENSG00000071894.101.112E-1305256gtex_brain_ba24
rs132660198145630986CPSF1ENSG00000071894.101.04E-703767gtex_brain_ba24
rs132582008145631197CPSF1ENSG00000071894.104.184E-803556gtex_brain_ba24
rs117756568145555712CPSF1ENSG00000071894.103.576E-7079041gtex_brain_putamen_basal
rs355359758145571993CPSF1ENSG00000071894.109.542E-7062760gtex_brain_putamen_basal
rs119915248145573172CPSF1ENSG00000071894.101.305E-6061581gtex_brain_putamen_basal
rs132803878145574468CPSF1ENSG00000071894.102.945E-6060285gtex_brain_putamen_basal
rs132720608145574523CPSF1ENSG00000071894.102.54E-7060230gtex_brain_putamen_basal
rs132528998145574608CPSF1ENSG00000071894.101.301E-6060145gtex_brain_putamen_basal
rs70163358145574775CPSF1ENSG00000071894.101.621E-10059978gtex_brain_putamen_basal
rs70118248145574930CPSF1ENSG00000071894.105.161E-7059823gtex_brain_putamen_basal
rs120567258145575487CPSF1ENSG00000071894.102.343E-17059266gtex_brain_putamen_basal
rs5458888598145575977CPSF1ENSG00000071894.101.152E-15058776gtex_brain_putamen_basal
rs119917248145576148CPSF1ENSG00000071894.107.546E-16058605gtex_brain_putamen_basal
rs8807018145577824CPSF1ENSG00000071894.102.35E-16056929gtex_brain_putamen_basal
rs8807028145577829CPSF1ENSG00000071894.102.391E-16056924gtex_brain_putamen_basal
rs22726648145577999CPSF1ENSG00000071894.105.926E-16056754gtex_brain_putamen_basal
rs22726638145578296CPSF1ENSG00000071894.102.433E-14056457gtex_brain_putamen_basal
rs22726668145580984CPSF1ENSG00000071894.101.069E-18053769gtex_brain_putamen_basal
rs22808408145581557CPSF1ENSG00000071894.102.258E-16053196gtex_brain_putamen_basal
rs38176818145582839CPSF1ENSG00000071894.106.019E-12051914gtex_brain_putamen_basal
rs43131958145586285CPSF1ENSG00000071894.109.568E-19048468gtex_brain_putamen_basal
rs78387668145586771CPSF1ENSG00000071894.105.5E-16047982gtex_brain_putamen_basal
rs562514148145587409CPSF1ENSG00000071894.104.424E-14047344gtex_brain_putamen_basal
rs70146848145587615CPSF1ENSG00000071894.103.038E-17047138gtex_brain_putamen_basal
rs73875638145589498CPSF1ENSG00000071894.102.197E-16045255gtex_brain_putamen_basal
rs100932028145592444CPSF1ENSG00000071894.108.845E-19042309gtex_brain_putamen_basal
rs2011059768145594353CPSF1ENSG00000071894.101.344E-16040400gtex_brain_putamen_basal
rs74604258145594354CPSF1ENSG00000071894.104.633E-17040399gtex_brain_putamen_basal
rs756744228145596535CPSF1ENSG00000071894.101.003E-18038218gtex_brain_putamen_basal
rs1842782648145596624CPSF1ENSG00000071894.107.62E-10038129gtex_brain_putamen_basal
rs43809788145599466CPSF1ENSG00000071894.102.516E-16035287gtex_brain_putamen_basal
rs358170958145600697CPSF1ENSG00000071894.107.267E-12034056gtex_brain_putamen_basal
rs125488428145602166CPSF1ENSG00000071894.107.059E-12032587gtex_brain_putamen_basal
rs101116548145602304CPSF1ENSG00000071894.101.171E-16032449gtex_brain_putamen_basal
rs65995288145603114CPSF1ENSG00000071894.109.241E-19031639gtex_brain_putamen_basal
rs126820238145609354CPSF1ENSG00000071894.101.378E-10025399gtex_brain_putamen_basal
rs78145458145610618CPSF1ENSG00000071894.101.666E-17024135gtex_brain_putamen_basal
rs625304068145610890CPSF1ENSG00000071894.101.813E-14023863gtex_brain_putamen_basal
rs70105368145611530CPSF1ENSG00000071894.102.13E-14023223gtex_brain_putamen_basal
rs726976068145611531CPSF1ENSG00000071894.104.982E-11023222gtex_brain_putamen_basal
rs70156838145611719CPSF1ENSG00000071894.102.793E-18023034gtex_brain_putamen_basal
rs342471318145613959CPSF1ENSG00000071894.101.97E-17020794gtex_brain_putamen_basal
rs13830958145615776CPSF1ENSG00000071894.102.501E-11018977gtex_brain_putamen_basal
rs5634153908145617534CPSF1ENSG00000071894.103.042E-10017219gtex_brain_putamen_basal
rs10529518145618309CPSF1ENSG00000071894.101.561E-10016444gtex_brain_putamen_basal
rs10529528145618312CPSF1ENSG00000071894.101.496E-10016441gtex_brain_putamen_basal
rs18715328145618597CPSF1ENSG00000071894.102.566E-11016156gtex_brain_putamen_basal
rs22726618145618862CPSF1ENSG00000071894.105.446E-13015891gtex_brain_putamen_basal
rs22808378145620296CPSF1ENSG00000071894.109.918E-17014457gtex_brain_putamen_basal
rs22808368145621556CPSF1ENSG00000071894.101.124E-18013197gtex_brain_putamen_basal
rs29778358145622923CPSF1ENSG00000071894.102.412E-13011830gtex_brain_putamen_basal
rs29778348145623098CPSF1ENSG00000071894.102.412E-13011655gtex_brain_putamen_basal
rs614128478145623382CPSF1ENSG00000071894.101.534E-9011371gtex_brain_putamen_basal
rs562931428145623446CPSF1ENSG00000071894.101.115E-11011307gtex_brain_putamen_basal
rs73881258145623622CPSF1ENSG00000071894.104.475E-10011131gtex_brain_putamen_basal
rs5274385008145623881CPSF1ENSG00000071894.103.526E-11010872gtex_brain_putamen_basal
rs43176148145623963CPSF1ENSG00000071894.101.16E-11010790gtex_brain_putamen_basal
rs22939638145624640CPSF1ENSG00000071894.101.185E-11010113gtex_brain_putamen_basal
rs22911358145625283CPSF1ENSG00000071894.101.727E-1909470gtex_brain_putamen_basal
rs1411409658145625538CPSF1ENSG00000071894.107.138E-1209215gtex_brain_putamen_basal
rs58958108145627556CPSF1ENSG00000071894.101.419E-907197gtex_brain_putamen_basal
rs19712508145627795CPSF1ENSG00000071894.106.429E-1306958gtex_brain_putamen_basal
rs100965248145629497CPSF1ENSG00000071894.102.685E-1705256gtex_brain_putamen_basal
rs132660198145630986CPSF1ENSG00000071894.104.98E-1103767gtex_brain_putamen_basal
rs132582008145631197CPSF1ENSG00000071894.103.454E-1203556gtex_brain_putamen_basal

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
REACTOME PROCESSING OF INTRONLESS PRE MRNAS 146All SZGR 2.0 genes in this pathway
REACTOME PROCESSING OF CAPPED INTRON CONTAINING PRE MRNA 14077All SZGR 2.0 genes in this pathway
REACTOME TRANSPORT OF MATURE TRANSCRIPT TO CYTOPLASM 5434All SZGR 2.0 genes in this pathway
REACTOME RNA POL II TRANSCRIPTION 10554All SZGR 2.0 genes in this pathway
REACTOME MRNA PROCESSING 16186All SZGR 2.0 genes in this pathway
REACTOME MRNA SPLICING 11158All SZGR 2.0 genes in this pathway
REACTOME PROCESSING OF CAPPED INTRONLESS PRE MRNA 2310All SZGR 2.0 genes in this pathway
REACTOME TRANSCRIPTION 210127All SZGR 2.0 genes in this pathway
REACTOME TRANSPORT OF MATURE MRNA DERIVED FROM AN INTRONLESS TRANSCRIPT 3321All SZGR 2.0 genes in this pathway
REACTOME MRNA 3 END PROCESSING 3518All SZGR 2.0 genes in this pathway
REACTOME CLEAVAGE OF GROWING TRANSCRIPT IN THE TERMINATION REGION 4422All 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
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
DEURIG T CELL PROLYMPHOCYTIC LEUKEMIA UP 368234All SZGR 2.0 genes in this pathway
WANG CLIM2 TARGETS UP 269146All SZGR 2.0 genes in this pathway
BARRIER CANCER RELAPSE NORMAL SAMPLE DN 3119All SZGR 2.0 genes in this pathway
PUJANA BRCA2 PCC NETWORK 423265All SZGR 2.0 genes in this pathway
LOCKWOOD AMPLIFIED IN LUNG CANCER 214139All SZGR 2.0 genes in this pathway
LIAO METASTASIS 539324All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS 775494All SZGR 2.0 genes in this pathway
SHEN SMARCA2 TARGETS DN 357212All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 8Q23 Q24 AMPLICON 15787All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE INCIPIENT UP 390242All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 14HR DN 298200All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR DN 504323All SZGR 2.0 genes in this pathway
ACEVEDO NORMAL TISSUE ADJACENT TO LIVER TUMOR DN 354216All SZGR 2.0 genes in this pathway
BONOME OVARIAN CANCER SURVIVAL SUBOPTIMAL DEBULKING 510309All SZGR 2.0 genes in this pathway
GRADE COLON CANCER UP 871505All SZGR 2.0 genes in this pathway
AGUIRRE PANCREATIC CANCER COPY NUMBER UP 298174All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA CLASSES UP 605377All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 4HR DN 254158All SZGR 2.0 genes in this pathway
GREGORY SYNTHETIC LETHAL WITH IMATINIB 14583All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway