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http://gsea4gwas-v2.psych.ac.cn/getResult.do?result=D7913EE0E94508D5C85B77EFB51BF039_Wed_Jun_01_13:42:14_CST_2016

312565 variants input; 229166 variants mapped to gene; 18192 genes mapped; 886 gene sets selected; 45 results.

Pathways/gene sets with FDR<0.25 are regarded as to be possibly associated with traits; FDR<0.05 are regarded as high confidence or with statistical significance.
Pathway/Gene set name Description Manhattan plot Significant genes/Selected genes/All genes P-value FDR P-value of enrichment analysis for putative functional variants # Significantly enriched peaks (P-value<0.05) P-value of enrichment analysis for eQTL
Deleterious Others help DNase-seq FAIRE TFBS-PeakSeq TFBS-SPP Histone
GO: POTASSIUM ION TRANSPORT
Detail    URL
Genes annotated by the GO term GO:0006813. The dir...... Genes annotated by the GO term GO:0006813. The directed movement of potassium ions (K+) into, out of, within or between cells. More... 38/52/58 0.001 0.002 0.956007535578103 0.8767814842332031 0 1 0 0 0 0.776551058119298
KEGG: ANTIGEN PROCESSING AND PRESENTATION
Detail    URL
hsa04612 21/64/86 0.001 0.004 0.945843561864081 0.008676693305398202 0 0 0 0 0 1.9797261082868671E-103
GO: CATION TRANSPORT
Detail    URL
Genes annotated by the GO term GO:0006812. The dir...... Genes annotated by the GO term GO:0006812. The directed movement of cations, atoms or small molecules with a net positive charge, into, out of, within or between cells. More... 72/134/147 0.001 0.004166667 0.9989542898262378 0.854681658448106 0 0 0 0 0 7.647694076462296E-48
GO: MONOVALENT INORGANIC CATION TRANSPORT
Detail    URL
Genes annotated by the GO term GO:0015672. The dir...... Genes annotated by the GO term GO:0015672. The directed movement of inorganic cations with a valency of one into, out of, within or between cells. Inorganic cations are atoms or small molecules with a positive charge which do not contain carbon in covalent linkage. More... 49/83/94 0.001 0.0042 0.981470007584811 0.9204449106988524 0 0 0 0 0 0.036714106174236205
GO: ION CHANNEL ACTIVITY
Detail    URL
Genes annotated by the GO term GO:0005216. Catalys...... Genes annotated by the GO term GO:0005216. Catalysis of facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. More... 72/140/149 0.001 0.00425 0.9985893762468347 1.0 0 0 0 0 0 9.500574970737572E-7
GO: ION TRANSPORT
Detail    URL
Genes annotated by the GO term GO:0006811. The dir...... Genes annotated by the GO term GO:0006811. The directed movement of charged atoms or small charged molecules into, out of, within or between cells. More... 86/167/185 0.001 0.0043333336 0.9999725399712209 0.784382685777121 0 0 0 0 0 7.74915177333565E-45
GO: SUBSTRATE SPECIFIC CHANNEL ACTIVITY
Detail    URL
Genes annotated by the GO term GO:0022838. Catalys...... Genes annotated by the GO term GO:0022838. Catalysis of energy-independent facilitated diffusion, mediated by passage of a specific solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. More... 73/147/156 0.001 0.0061428575 0.9987078750133831 1.0 0 0 0 0 0 1.0790746838499371E-6
GO: METAL ION TRANSPORT
Detail    URL
Genes annotated by the GO term GO:0030001. The dir...... Genes annotated by the GO term GO:0030001. The directed movement of metal ions, any metal ion with an electric charge, into, out of, within or between cells. More... 61/107/117 0.001 0.00825 0.9972252492944103 0.6704090838123831 0 0 0 0 0 3.329264501402745E-27
GO: GATED CHANNEL ACTIVITY
Detail    URL
Genes annotated by the GO term GO:0022836. Catalys...... Genes annotated by the GO term GO:0022836. Catalysis of the transmembrane transfer of a solute by a channel that opens in response to a specific stimulus. More... 63/117/122 0.001 0.0104 0.9971021125636726 1.0 0 0 0 0 0 5.009315225892703E-5
GO: REGULATION OF HEART CONTRACTION
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Genes annotated by the GO term GO:0008016. Any pro...... Genes annotated by the GO term GO:0008016. Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process by which the heart decreases in volume in a characteristic way to propel blood through the body. More... 15/24/25 0.001 0.011222223 1.0 1.0 0 1 0 0 0 0.08390878450558492
GO: VOLTAGE GATED POTASSIUM CHANNEL COMPLEX
Detail    URL
Genes annotated by the GO term GO:0008076. A prote...... Genes annotated by the GO term GO:0008076. A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential. More... 26/37/40 0.001 0.032727275 0.8556547845840934 1.0 0 1 0 0 0 0.6491896519672657
GO: AUXILIARY TRANSPORT PROTEIN ACTIVITY
Detail    URL
Genes annotated by the GO term GO:0015457. Facilit...... Genes annotated by the GO term GO:0015457. Facilitates transport across one or more biological membranes but do not themselves participate directly in transport. These proteins always function in conjunction with one or more established transport systems. They may provide a function connected with energy coupling to transport, play a structural role in complex formation, serve a biogenic or stability function or function in regulation. More... 14/22/26 0.001 0.041714285 1.0 1.0 2 0 0 0 0 3.958147203758985E-4
KEGG: CELL ADHESION MOLECULES CAMS
Detail    URL
hsa04514 60/124/133 0.001 0.04323077 0.9984260733974217 0.31641681040448094 0 0 1 8 1 3.3935724065501915E-69
KEGG: ENDOCYTOSIS
Detail    URL
hsa04144 63/171/181 0.002 0.044736844 0.99999074467692 0.37263391033937393 0 0 0 0 0 2.1749211704455037E-81
GO: POTASSIUM CHANNEL ACTIVITY
Detail    URL
Genes annotated by the GO term GO:0005267. Catalys...... Genes annotated by the GO term GO:0005267. Catalysis of facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. More... 30/47/50 0.001 0.0448125 0.9222118801285222 1.0 0 1 0 0 0 0.7236503041692278
GO: CHANNEL REGULATOR ACTIVITY
Detail    URL
Genes annotated by the GO term GO:0016247. 13/21/24 0.001 0.045294117 1.0 1.0 2 0 0 0 0 1.699890079659187E-4
GO: ACTIVATION OF PROTEIN KINASE ACTIVITY
Detail    URL
Genes annotated by the GO term GO:0032147. Any pro...... Genes annotated by the GO term GO:0032147. Any process that initiates the activity of an inactive protein kinase. More... 14/27/28 0.002 0.045833334 1.0 1.0 0 1 0 0 17 1.1040918158089894E-44
GO: PROTEIN PROCESSING
Detail    URL
Genes annotated by the GO term GO:0016485. The pos...... Genes annotated by the GO term GO:0016485. The posttranslational modification of a protein, particularly secretory proteins and proteins targeted for membranes or specific cellular locations. More... 20/45/49 0.002 0.046833333 0.9349678487320212 0.6886047489475192 0 0 0 0 0 0.05202668935226723
KEGG: NICOTINATE AND NICOTINAMIDE METABOLISM
Detail    URL
hsa00760 12/21/24 0.003 0.047133334 1.0 1.0 0 0 0 0 0 5.313806170685455E-16
GO: CATION CHANNEL ACTIVITY
Detail    URL
Genes annotated by the GO term GO:0005261. Catalys...... Genes annotated by the GO term GO:0005261. Catalysis of the energy-independent passage of cations across a lipid bilayer down a concentration gradient. More... 57/113/119 0.001 0.060149997 0.993212057650835 1.0 0 0 0 0 0 0.02289733592312703
KEGG: NOTCH SIGNALING PATHWAY
Detail    URL
hsa04330 18/41/47 0.001 0.06140909 0.9180025608766899 0.2881822207627007 0 2 11 0 3 3.7266869285926883E-25
GO: VOLTAGE GATED CHANNEL ACTIVITY
Detail    URL
Genes annotated by the GO term GO:0022832. Catalys...... Genes annotated by the GO term GO:0022832. Catalysis of the transmembrane transfer of a solute by a channel whose open state is dependent on the voltage across the membrane in which it is embedded. More... 40/71/73 0.002 0.06280953 0.9969203998868365 1.0 0 0 0 0 0 1.5309806239056293E-5
KEGG: RIBOSOME
Detail    URL
hsa03010 12/61/88 0.01 0.06873913 1.0 1.0 5 1 92 10 125 1.9238689309941224E-47
GO: METAL ION TRANSMEMBRANE TRANSPORTER ACTIVITY
Detail    URL
Genes annotated by the GO term GO:0046873. Catalys...... Genes annotated by the GO term GO:0046873. Catalysis of the transfer of metal ions from one side of a membrane to the other. More... 68/139/147 0.001 0.074708335 0.9993825599584922 0.7853264035897894 0 0 0 0 0 8.238425464162768E-35
KEGG: RNA POLYMERASE
Detail    URL
hsa03020 6/23/29 0.01 0.08412 0.8712206909662608 0.5831459850412238 42 7 166 58 140 4.857462415802261E-65
GO: VOLTAGE GATED POTASSIUM CHANNEL ACTIVITY
Detail    URL
Genes annotated by the GO term GO:0005249. Catalys...... Genes annotated by the GO term GO:0005249. Catalysis of the transmembrane transfer of a potassium ion by a voltage-gated channel. More... 22/35/36 0.002 0.08837931 0.9739541831352378 1.0 0 1 0 0 0 0.6719567352335065
GO: MICROTUBULE CYTOSKELETON ORGANIZATION AND BIOGENESIS
Detail    URL
Genes annotated by the GO term GO:0000226. A proce...... Genes annotated by the GO term GO:0000226. A process that is carried out at the cellular level which results in the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. More... 13/35/35 0.007 0.08851852 1.0 1.0 7 6 0 1 30 8.502353518422267E-46
GO: CATION TRANSMEMBRANE TRANSPORTER ACTIVITY
Detail    URL
Genes annotated by the GO term GO:0008324. Catalys...... Genes annotated by the GO term GO:0008324. Catalysis of the transfer of cation from one side of the membrane to the other. More... 85/198/213 0.003 0.088821426 0.9996189164966878 0.8971317580881895 0 0 0 0 0 1.4867123453588289E-56
GO: MEMBRANE FUSION
Detail    URL
Genes annotated by the GO term GO:0006944. The joi...... Genes annotated by the GO term GO:0006944. The joining of two lipid bilayers to form a single membrane. More... 15/28/28 0.004 0.091730766 1.0 1.0 6 3 8 9 49 2.0420072536839385E-6
GO: VOLTAGE GATED CATION CHANNEL ACTIVITY
Detail    URL
Genes annotated by the GO term GO:0022843. Catalys...... Genes annotated by the GO term GO:0022843. Catalysis of the transmembrane transfer of a cation by a voltage-gated channel. A cation is a positively charged ion. More... 37/65/66 0.002 0.10166667 0.9959228129517352 1.0 0 0 0 0 0 0.00740843610964275
GO: CALCIUM ION BINDING
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Genes annotated by the GO term GO:0005509. Interac...... Genes annotated by the GO term GO:0005509. Interacting selectively with calcium ions (Ca2+). More... 36/93/104 0.006 0.10574194 1.0 1.0 0 0 0 0 6 3.4214094022961056E-7
GO: RNA PROCESSING
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Genes annotated by the GO term GO:0006396. Any pro...... Genes annotated by the GO term GO:0006396. Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. More... 39/149/173 0.007 0.1141875 0.9906552477616 0.5458110041265656 0 2 19 4 61 3.806923687653493E-80
GO: ANION TRANSMEMBRANE TRANSPORTER ACTIVITY
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Genes annotated by the GO term GO:0008509. Catalys...... Genes annotated by the GO term GO:0008509. Catalysis of the transfer of a negatively charged ion from one side of a membrane to the other. More... 23/55/59 0.007 0.11811764 1.0 0.6113403595245175 0 0 0 0 0 2.3131427717792827E-5
GO: PATTERN SPECIFICATION PROCESS
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Genes annotated by the GO term GO:0007389. The dev...... Genes annotated by the GO term GO:0007389. The developmental processes that result in the creation of defined areas or spaces within an organism to which cells respond and eventually are instructed to differentiate. More... 15/28/31 0.003 0.1199697 1.0 0.5676673954663918 0 0 0 0 0 1.7561460173576374E-12
GO: DI TRI VALENT INORGANIC CATION TRANSPORT
Detail    URL
Genes annotated by the GO term GO:0015674. The dir...... Genes annotated by the GO term GO:0015674. The directed movement of inorganic cations with a valency of two or three into, out of, within or between cells. Inorganic cations are atoms or small molecules with a positive charge which do not contain carbon in covalent linkage. More... 17/31/32 0.004 0.15605555 1.0 0.32624679700293163 0 0 0 0 0 1.1933376059072799E-36
GO: SPLICEOSOME
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Genes annotated by the GO term GO:0005681. A ribon...... Genes annotated by the GO term GO:0005681. A ribonucleoprotein complex, containing RNA and small nuclear ribonucleoproteins (snRNPs) that is assembled during the splicing of messenger RNA primary transcript to excise an intron. More... 13/44/51 0.008 0.1568158 1.0 1.0 8 8 62 19 133 0.02097891458391711
GO: PHOSPHOLIPID BIOSYNTHETIC PROCESS
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Genes annotated by the GO term GO:0008654. The che...... Genes annotated by the GO term GO:0008654. The chemical reactions and pathways resulting in the formation of phospholipids, any lipid containing phosphoric acid as a mono- or diester. More... 11/31/39 0.014 0.1587027 0.6801879847379325 1.0 0 0 0 0 4 4.7939190601908155E-98
GO: NEGATIVE REGULATION OF TRANSCRIPTION FROM RNA POLYMERASE II PROMOTER
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Genes annotated by the GO term GO:0000122. Any pro...... Genes annotated by the GO term GO:0000122. Any process that stops, prevents or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter. More... 29/73/84 0.005 0.15974286 1.0 1.0 0 0 0 0 2 1.8083007622162925E-69
GO: MAGNESIUM ION BINDING
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Genes annotated by the GO term GO:0000287. Interac...... Genes annotated by the GO term GO:0000287. Interacting selectively with magnesium (Mg) ions. More... 22/56/62 0.006 0.177175 0.9537864707819753 1.0 0 0 0 0 0 1.6975584612035294E-30
GO: PROTEIN AUTOPROCESSING
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Genes annotated by the GO term GO:0016540. Process...... Genes annotated by the GO term GO:0016540. Processing which a protein carries out itself. This involves actions such as the autolytic removal of residues to generate the mature form of the protein. More... 13/30/32 0.011 0.1796591 0.7011556718532233 1.0 0 0 0 0 0 1.0
GO: OXIDOREDUCTASE ACTIVITY GO 0016705
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Genes annotated by the GO term GO:0016705. Catalys...... Genes annotated by the GO term GO:0016705. Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from each of two donors, and molecular oxygen is reduced or incorporated into a donor. More... 13/35/38 0.011 0.17984615 1.0 1.0 0 0 2 0 1 0.013842813050895844
GO: CALCIUM ION TRANSPORT
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Genes annotated by the GO term GO:0006816. The dir...... Genes annotated by the GO term GO:0006816. The directed movement of calcium (Ca) ions into, out of, within or between cells. More... 15/26/27 0.006 0.18374419 1.0 1.0 0 0 0 0 0 0.0027094967084667354
GO: GENERATION OF NEURONS
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Genes annotated by the GO term GO:0048699. The pro...... Genes annotated by the GO term GO:0048699. The process by which nerve cells are generated. This includes the production of neuroblasts and their differentiation into neurons. More... 40/80/83 0.005 0.1842439 0.9952799884860348 0.8983793494775897 0 0 0 0 0 0.0014589763645329636
GO: NEUROGENESIS
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Genes annotated by the GO term GO:0022008. Generat...... Genes annotated by the GO term GO:0022008. Generation of cells within the nervous system. More... 43/88/93 0.005 0.18516667 0.9963910963773166 0.9093812704401768 0 0 0 0 0 0.0019202551418281441
GO: NEURON DIFFERENTIATION
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Genes annotated by the GO term GO:0030182. The pro...... Genes annotated by the GO term GO:0030182. The process whereby a relatively unspecialized cell acquires specialized features of a neuron. More... 38/73/76 0.009 0.24146667 0.992940162271557 0.8793220364222067 0 0 0 0 0 9.340613047979433E-4

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Last update: May 14, 2014