Including 120 go accession in ASD, 120 in ID, 120 in EE and 96 in SCZ. |
GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of entrichment | Raw P_Value | Adjusted P_Value | Genes related | Other disease |
---|---|---|---|---|---|---|---|---|---|
GO:0071842 | cellular component organization at cellular level | 3317 | 51 | 22.45 | 2.27 | 3.33e-10 | 3.63e-07 | ASD SCZ | |
MECP2 | SCN8A | FHDC1 | CTCF | KIF5C | MYH9 | RBL2 | POGZ | OTX2 | KDM1A | RB1 | ZMYM6 | CAP1 | CTNNB1 | SETDB2 | TCF4 | WAC | GTPBP8 | MYO1E | NTM | SMAD6 | STXBP1 | WDR45 | MAP3K1 | SPTAN1 | PHIP | SYNGAP1 | KCNQ3 | BRD3 | STAG1 | TUBA1A | ASUN | LRP1 | COL4A3BP | CHAMP1 | DLG4 | AP3B1 | SATB2 | KDM1B | NGFR | DSP | SON | DYNC1H1 | DDX3X | TNKS2 | SMC1A | TBR1 | IQSEC2 | NGEF | ARFGEF2 | |||||||||
GO:0016043 | cellular component organization | 4105 | 57 | 27.78 | 2.05 | 6.71e-10 | 3.65e-07 | ASD SCZ | |
MECP2 | SCN8A | FHDC1 | CTCF | KIF5C | MYH9 | RBL2 | POGZ | OTX2 | KDM1A | RB1 | ZMYM6 | CAP1 | CTNNB1 | SETDB2 | TCF4 | RAB39B | WAC | KCNA1 | GTPBP8 | MYO1E | NTM | SMAD6 | STXBP1 | WDR45 | MAP3K1 | SPTAN1 | PHIP | SYNGAP1 | KCNQ3 | BRD3 | STAG1 | TUBA1A | ASUN | LRP1 | COL4A3BP | CHAMP1 | DLG4 | AP3B1 | PACS1 | SATB2 | KDM1B | NGFR | DSP | SON | GRIN2B | DYNC1H1 | DGKH | DDX3X | TNKS2 | SMC1A | SLC6A1 | TBR1 | IQSEC2 | NGEF | ARFGEF2 | |||||||||
GO:0071841 | cellular component organization or biogenesis at cellular level | 3420 | 51 | 23.14 | 2.20 | 1.05e-09 | 3.81e-07 | ASD SCZ | |
MECP2 | SCN8A | FHDC1 | CTCF | KIF5C | MYH9 | RBL2 | POGZ | OTX2 | KDM1A | RB1 | ZMYM6 | CAP1 | CTNNB1 | SETDB2 | TCF4 | WAC | GTPBP8 | MYO1E | NTM | SMAD6 | STXBP1 | WDR45 | MAP3K1 | SPTAN1 | PHIP | SYNGAP1 | KCNQ3 | BRD3 | STAG1 | TUBA1A | ASUN | LRP1 | COL4A3BP | CHAMP1 | DLG4 | AP3B1 | SATB2 | KDM1B | NGFR | DSP | SON | DYNC1H1 | DDX3X | TNKS2 | SMC1A | TBR1 | IQSEC2 | NGEF | ARFGEF2 | |||||||||
GO:0071840 | cellular component organization or biogenesis | 4222 | 57 | 28.57 | 2.00 | 2.13e-09 | 5.80e-07 | ASD SCZ | |
MECP2 | SCN8A | FHDC1 | CTCF | KIF5C | MYH9 | RBL2 | POGZ | OTX2 | KDM1A | RB1 | ZMYM6 | CAP1 | CTNNB1 | SETDB2 | TCF4 | RAB39B | WAC | KCNA1 | GTPBP8 | MYO1E | NTM | SMAD6 | STXBP1 | WDR45 | MAP3K1 | SPTAN1 | PHIP | SYNGAP1 | KCNQ3 | BRD3 | STAG1 | TUBA1A | ASUN | LRP1 | COL4A3BP | CHAMP1 | DLG4 | AP3B1 | PACS1 | SATB2 | KDM1B | NGFR | DSP | SON | GRIN2B | DYNC1H1 | DGKH | DDX3X | TNKS2 | SMC1A | SLC6A1 | TBR1 | IQSEC2 | NGEF | ARFGEF2 | |||||||||
GO:0006996 | organelle organization | 2113 | 38 | 14.30 | 2.66 | 3.51e-09 | 7.64e-07 | SCZ | |
MECP2 | FHDC1 | CTCF | KIF5C | MYH9 | RBL2 | POGZ | KDM1A | RB1 | ZMYM6 | CAP1 | CTNNB1 | SETDB2 | WAC | STXBP1 | WDR45 | MAP3K1 | SPTAN1 | PHIP | STAG1 | BRD3 | ASUN | LRP1 | COL4A3BP | CHAMP1 | DLG4 | AP3B1 | SATB2 | KDM1B | DSP | SON | DYNC1H1 | DDX3X | TNKS2 | SMC1A | IQSEC2 | ARFGEF2 | |||||||||
GO:0007399 | nervous system development | 1724 | 30 | 11.67 | 2.57 | 6.27e-07 | 9.75e-05 | EE ASD SCZ | |
MYT1L | DEAF1 | SYNGAP1 | KCNQ3 | MECP2 | SCN8A | LRP2 | KIF5C | MYH9 | DLG4 | SATB2 | CNGA3 | NGFR | OTX2 | KDM1A | GRIN2B | RB1 | CAP1 | CTNNB1 | TCF4 | DOK4 | TBR1 | GRIN2A | SCN2A | NTM | STXBP1 | CTTNBP2 | CAMK2G | NGEF | |||||||||
GO:0007059 | chromosome segregation | 146 | 9 | 0.99 | 9.11 | 6.19e-07 | 9.75e-05 | - | |
DDX3X | RB1 | STAG1 | SETDB2 | CTNNB1 | SMC1A | CHAMP1 | CTCF | |||||||||
GO:0007062 | sister chromatid cohesion | 32 | 5 | 0.22 | 23.09 | 2.23e-06 | 0.0003 | - | |
CTCF | RB1 | CTNNB1 | POGZ | |||||||||
GO:0048731 | system development | 3521 | 44 | 23.83 | 1.85 | 6.63e-06 | 0.0008 | - | |
MYT1L | MECP2 | SCN8A | LRP2 | KIF5C | MYH9 | RAI1 | PNLIPRP1 | CNGA3 | OTX2 | KDM1A | KCNH1 | RB1 | CAP1 | CTNNB1 | SETDB2 | TCF4 | DOK4 | PSMA7 | MYO1E | GRIN2A | SCN2A | NTM | SMAD6 | STXBP1 | CAMK2G | MAP3K1 | SPTAN1 | DEAF1 | RAPGEF1 | SYNGAP1 | KCNQ3 | LRP1 | COL4A3BP | DLG4 | AP3B1 | SATB2 | NGFR | DSP | GRIN2B | DYNC1H1 | TBR1 | CTTNBP2 | |||||||||
GO:0035637 | multicellular organismal signaling | 751 | 17 | 5.08 | 3.35 | 1.05e-05 | 0.0011 | EE ASD SCZ | |
SYNGAP1 | KCNQ3 | MECP2 | SCN8A | DLG4 | AP3B1 | DSP | GRIN2B | KCNH1 | GRIA1 | CTNNB1 | KCNA1 | SLC6A1 | SCN2A | GRIN2A | STXBP1 | |||||||||
GO:0048667 | cell morphogenesis involved in neuron differentiation | 575 | 14 | 3.89 | 3.60 | 3.13e-05 | 0.0015 | ASD | |
RB1 | SYNGAP1 | KCNQ3 | CAP1 | SCN8A | MYH9 | DLG4 | KIF5C | TBR1 | NGFR | STXBP1 | OTX2 | NGEF | |||||||||
GO:0048169 | regulation of long-term neuronal synaptic plasticity | 26 | 4 | 0.18 | 22.74 | 2.63e-05 | 0.0015 | - | |
DLG4 | SYNGAP1 | GRIN2A | |||||||||
GO:0031175 | neuron projection development | 704 | 16 | 4.76 | 3.36 | 1.88e-05 | 0.0015 | ASD SCZ | |
SYNGAP1 | KCNQ3 | MECP2 | SCN8A | MYH9 | DLG4 | KIF5C | NGFR | OTX2 | RB1 | CAP1 | TBR1 | NTM | STXBP1 | SPTAN1 | |||||||||
GO:0048699 | generation of neurons | 1073 | 20 | 7.26 | 2.75 | 2.76e-05 | 0.0015 | ASD SCZ | |
SYNGAP1 | KCNQ3 | MECP2 | SCN8A | KIF5C | MYH9 | DLG4 | SATB2 | CNGA3 | NGFR | OTX2 | RB1 | CAP1 | CTNNB1 | TCF4 | TBR1 | STXBP1 | NTM | NGEF | |||||||||
GO:0050890 | cognition | 169 | 8 | 1.14 | 7.00 | 1.88e-05 | 0.0015 | ASD | |
TUSC3 | GRIA1 | SYNGAP1 | MECP2 | DLG4 | SLC6A1 | GRIN2A | |||||||||
GO:0007612 | learning | 84 | 6 | 0.57 | 10.56 | 2.19e-05 | 0.0015 | - | |
SLC6A1 | DLG4 | SYNGAP1 | GRIN2A | MECP2 | |||||||||
GO:0019226 | transmission of nerve impulse | 735 | 16 | 4.97 | 3.22 | 3.18e-05 | 0.0015 | EE ASD SCZ | |
KCNH1 | GRIA1 | SYNGAP1 | KCNQ3 | CTNNB1 | MECP2 | SCN8A | KCNA1 | DLG4 | AP3B1 | SLC6A1 | GRIN2A | SCN2A | STXBP1 | CAMK2G | |||||||||
GO:0045935 | positive regulation of nucleobase-containing compound metabolic process | 1171 | 21 | 7.92 | 2.65 | 2.98e-05 | 0.0015 | - | |
ZNF292 | PHIP | MECP2 | CTCF | DLG4 | SATB2 | CREBL2 | OTX2 | KDM1A | UBTF | DDX3X | RB1 | SREBF2 | CAP1 | CTNNB1 | MTF1 | TCF4 | WAC | TNKS2 | TBR1 | |||||||||
GO:0022008 | neurogenesis | 1140 | 21 | 7.71 | 2.72 | 1.99e-05 | 0.0015 | ASD SCZ | |
SYNGAP1 | KCNQ3 | MECP2 | SCN8A | KIF5C | MYH9 | DLG4 | SATB2 | CNGA3 | NGFR | OTX2 | RB1 | CAP1 | CTNNB1 | TCF4 | TBR1 | GRIN2A | STXBP1 | NTM | NGEF | |||||||||
GO:0048666 | neuron development | 798 | 17 | 5.40 | 3.15 | 2.30e-05 | 0.0015 | ASD SCZ | |
SYNGAP1 | KCNQ3 | MECP2 | SCN8A | MYH9 | DLG4 | KIF5C | CNGA3 | NGFR | OTX2 | RB1 | CAP1 | TBR1 | NTM | STXBP1 | SPTAN1 | |||||||||
GO:0048856 | anatomical structure development | 4030 | 47 | 27.27 | 1.72 | 1.78e-05 | 0.0015 | - | |
MYT1L | MECP2 | SCN8A | LRP2 | KIF5C | MYH9 | RAI1 | PNLIPRP1 | CNGA3 | OTX2 | KDM1A | KCNH1 | RB1 | ZMYM6 | CAP1 | CTNNB1 | SETDB2 | TCF4 | DOK4 | PSMA7 | MYO1E | GRIN2A | SCN2A | NTM | SMAD6 | STXBP1 | CAMK2G | MAP3K1 | SPTAN1 | DEAF1 | RAPGEF1 | PHIP | SYNGAP1 | KCNQ3 | LRP1 | COL4A3BP | DLG4 | AP3B1 | SATB2 | NGFR | DSP | GRIN2B | DYNC1H1 | TBR1 | TANC2 | CTTNBP2 | |||||||||
GO:0007010 | cytoskeleton organization | 796 | 17 | 5.39 | 3.16 | 2.23e-05 | 0.0015 | - | |
DYNC1H1 | RB1 | PHIP | ZMYM6 | CTNNB1 | CAP1 | SMC1A | LRP1 | FHDC1 | CHAMP1 | MYH9 | IQSEC2 | DSP | SON | MAP3K1 | SPTAN1 | |||||||||
GO:0007275 | multicellular organismal development | 4077 | 47 | 27.59 | 1.70 | 2.47e-05 | 0.0015 | ASD SCZ | |
MYT1L | MECP2 | SCN8A | LRP2 | KIF5C | MYH9 | RAI1 | PNLIPRP1 | CNGA3 | OTX2 | KDM1A | KCNH1 | RB1 | ZMYM6 | CAP1 | CTNNB1 | SETDB2 | TCF4 | DOK4 | PSMA7 | MYO1E | GRIN2A | SCN2A | NTM | SMAD6 | STXBP1 | CAMK2G | MAP3K1 | SPTAN1 | DEAF1 | RAPGEF1 | SYNGAP1 | KCNQ3 | LRP1 | COL4A3BP | DLG4 | AP3B1 | SATB2 | KDM1B | NGFR | DSP | GRIN2B | DYNC1H1 | TBR1 | TANC2 | CTTNBP2 | |||||||||
GO:0007063 | regulation of sister chromatid cohesion | 10 | 3 | 0.07 | 44.33 | 3.48e-05 | 0.0016 | - | |
CTCF | RB1 | |||||||||
GO:0033044 | regulation of chromosome organization | 93 | 6 | 0.63 | 9.53 | 3.91e-05 | 0.0017 | SCZ | |
CTCF | RB1 | CTNNB1 | MECP2 | KDM1A | |||||||||
GO:0031134 | sister chromatid biorientation | 2 | 2 | 0.01 | 147.78 | 4.53e-05 | 0.0017 | - | |
CHAMP1 | |||||||||
GO:0051173 | positive regulation of nitrogen compound metabolic process | 1198 | 21 | 8.11 | 2.59 | 4.17e-05 | 0.0017 | - | |
ZNF292 | PHIP | MECP2 | CTCF | DLG4 | SATB2 | CREBL2 | OTX2 | KDM1A | UBTF | DDX3X | RB1 | SREBF2 | CAP1 | CTNNB1 | MTF1 | TCF4 | WAC | TNKS2 | TBR1 | |||||||||
GO:0007064 | mitotic sister chromatid cohesion | 11 | 3 | 0.07 | 40.30 | 4.77e-05 | 0.0017 | - | |
RB1 | POGZ | |||||||||
GO:0048167 | regulation of synaptic plasticity | 96 | 6 | 0.65 | 9.24 | 4.67e-05 | 0.0017 | EE | |
DLG4 | SYNGAP1 | GRIN2A | STXBP1 | MECP2 | |||||||||
GO:0032502 | developmental process | 4572 | 50 | 30.94 | 1.62 | 4.86e-05 | 0.0017 | - | |
MYT1L | MECP2 | SCN8A | LRP2 | KIF5C | MYH9 | RAI1 | CREBL2 | PNLIPRP1 | CNGA3 | OTX2 | KDM1A | KCNH1 | RB1 | ZMYM6 | SREBF2 | CAP1 | CTNNB1 | SETDB2 | TCF4 | DOK4 | PSMA7 | MYO1E | GRIN2A | SCN2A | NTM | SMAD6 | STXBP1 | CAMK2G | MAP3K1 | SPTAN1 | DEAF1 | RAPGEF1 | PHIP | SYNGAP1 | KCNQ3 | LRP1 | COL4A3BP | DLG4 | AP3B1 | SATB2 | KDM1B | NGFR | DSP | GRIN2B | DYNC1H1 | TBR1 | TANC2 | CTTNBP2 | |||||||||
GO:0007049 | cell cycle | 1393 | 23 | 9.43 | 2.44 | 4.26e-05 | 0.0017 | - | |
PHIP | STAG1 | TUBA1A | ASUN | CHAMP1 | CTCF | MYH9 | CREBL2 | NGFR | RBL2 | SON | POGZ | DYNC1H1 | DDX3X | RB1 | CTNNB1 | SETDB2 | PSMA7 | WAC | APPL2 | SMC1A | SMAD6 | |||||||||
GO:0051276 | chromosome organization | 690 | 15 | 4.67 | 3.21 | 5.87e-05 | 0.0019 | - | |
RB1 | BRD3 | SETDB2 | CTNNB1 | MECP2 | WAC | TNKS2 | SMC1A | CHAMP1 | CTCF | SATB2 | KDM1B | RBL2 | POGZ | |||||||||
GO:0000902 | cell morphogenesis | 945 | 18 | 6.39 | 2.81 | 5.63e-05 | 0.0019 | ASD SCZ | |
PHIP | SYNGAP1 | KCNQ3 | SCN8A | COL4A3BP | MYH9 | DLG4 | KIF5C | NGFR | OTX2 | RB1 | ZMYM6 | CAP1 | CTNNB1 | TBR1 | STXBP1 | NGEF | |||||||||
GO:0060079 | regulation of excitatory postsynaptic membrane potential | 36 | 4 | 0.24 | 16.42 | 9.84e-05 | 0.0021 | EE SCZ | |
DLG4 | GRIN2A | MECP2 | |||||||||
GO:0030182 | neuron differentiation | 990 | 18 | 6.70 | 2.69 | 0.0001 | 0.0021 | SCZ | |
SYNGAP1 | KCNQ3 | MECP2 | SCN8A | MYH9 | DLG4 | KIF5C | CNGA3 | NGFR | OTX2 | RB1 | CAP1 | TCF4 | TBR1 | STXBP1 | NTM | NGEF | |||||||||
GO:0007611 | learning or memory | 155 | 7 | 1.05 | 6.67 | 8.62e-05 | 0.0021 | ASD | |
SLC6A1 | DLG4 | GRIA1 | SYNGAP1 | GRIN2A | MECP2 | |||||||||
GO:0000904 | cell morphogenesis involved in differentiation | 704 | 15 | 4.76 | 3.15 | 7.36e-05 | 0.0021 | ASD SCZ | |
RB1 | SYNGAP1 | KCNQ3 | CTNNB1 | CAP1 | SCN8A | MYH9 | DLG4 | KIF5C | TBR1 | NGFR | STXBP1 | OTX2 | NGEF | |||||||||
GO:0031644 | regulation of neurological system process | 217 | 8 | 1.47 | 5.45 | 0.0001 | 0.0021 | EE | |
SLC6A1 | DLG4 | SYNGAP1 | GRIN2A | CTNNB1 | STXBP1 | MECP2 | |||||||||
GO:0007268 | synaptic transmission | 651 | 14 | 4.41 | 3.18 | 0.0001 | 0.0021 | EE ASD | |
KCNH1 | GRIA1 | SYNGAP1 | KCNQ3 | CTNNB1 | MECP2 | KCNA1 | DLG4 | AP3B1 | SLC6A1 | GRIN2A | STXBP1 | CAMK2G | |||||||||
GO:0010557 | positive regulation of macromolecule biosynthetic process | 1179 | 20 | 7.98 | 2.51 | 0.0001 | 0.0021 | - | |
ZNF292 | PHIP | MECP2 | CTCF | DLG4 | SATB2 | CREBL2 | OTX2 | KDM1A | UBTF | DDX3X | RB1 | SREBF2 | CTNNB1 | MTF1 | TCF4 | WAC | TNKS2 | TBR1 |
GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of entrichment | Raw P_Value | Adjusted P_Value | Genes related | Other disease |
---|---|---|---|---|---|---|---|---|---|
GO:0005488 | binding | 11955 | 94 | 79.78 | 1.18 | 0.0001 | 0.0030 | SCZ | |
ZNF292 | MAT1A | GFPT2 | SLC2A1 | FHDC1 | MYH9 | CREBL2 | PNLIPRP1 | MGAT5B | CNGA3 | KDM1A | ZMYM6 | SREBF2 | CAP1 | CTNNB1 | SETDB2 | ELMO2 | PSMA7 | DOK4 | CUX2 | WAC | TNPO2 | CHD2 | MYO1E | NDUFA10 | WDR45 | ARIH1 | DEAF1 | PHIP | TUBA1A | ASUN | COL4A3BP | LRP1 | AP3B1 | DLG4 | SATB2 | KDM1B | SON | DSP | DDX3X | UBTF | ELP2 | SMC1A | HIVEP2 | CTTNBP2 | MAST1 | MYT1L | SCN8A | MECP2 | LRP2 | KIF5C | CTCF | SETBP1 | RAI1 | PHACTR1 | RBL2 | POGZ | OTX2 | KCNH1 | GRIA1 | RB1 | MTF1 | RAB39B | TCF4 | EEF1A2 | GTPBP8 | GRIN2A | NTM | ZMYND12 | SMAD6 | STXBP1 | CAMK2G | MAP3K1 | SPTAN1 | GATAD2B | RAPGEF1 | SYNGAP1 | BRD3 | STAG1 | CHAMP1 | PACS1 | NGFR | LIPI | GRIN2B | DYNC1H1 | POP1 | DGKH | SYNCRIP | APPL2 | TNKS2 | TBR1 | IQSEC2 | NGEF | |||||||||
GO:0022892 | substrate-specific transporter activity | 980 | 18 | 6.54 | 2.75 | 7.71e-05 | 0.0030 | EE ASD | |
KCNQ3 | SCN8A | SLC2A1 | LRP2 | COL4A3BP | LRP1 | AP3B1 | SLC26A9 | CNGA3 | GRIN2B | KCNH1 | GRIA1 | TUSC3 | KCNA1 | TNPO2 | SLC6A1 | SCN2A | |||||||||
GO:0003682 | chromatin binding | 315 | 10 | 2.10 | 4.76 | 4.78e-05 | 0.0030 | - | |
BRD3 | CTNNB1 | SREBF2 | MECP2 | WAC | SMC1A | CTCF | SATB2 | SMAD6 | |||||||||
GO:0042954 | lipoprotein transporter activity | 2 | 2 | 0.01 | 149.84 | 4.41e-05 | 0.0030 | ASD | |
LRP2 | |||||||||
GO:0035254 | glutamate receptor binding | 25 | 4 | 0.17 | 23.97 | 2.12e-05 | 0.0030 | - | |
DLG4 | GRIN2A | CTNNB1 | |||||||||
GO:0035255 | ionotropic glutamate receptor binding | 15 | 3 | 0.10 | 29.97 | 0.0001 | 0.0030 | - | |
DLG4 | CTNNB1 | |||||||||
GO:0034648 | histone demethylase activity (H3-dimethyl-K4 specific) | 3 | 2 | 0.02 | 99.90 | 0.0001 | 0.0030 | - | |
KDM1B | |||||||||
GO:0004970 | ionotropic glutamate receptor activity | 18 | 3 | 0.12 | 24.97 | 0.0002 | 0.0039 | - | |
GRIA1 | GRIN2A | |||||||||
GO:0022839 | ion gated channel activity | 303 | 9 | 2.02 | 4.45 | 0.0002 | 0.0039 | EE ASD | |
KCNH1 | GRIA1 | KCNQ3 | SCN8A | KCNA1 | CNGA3 | SCN2A | GRIN2A | |||||||||
GO:0022836 | gated channel activity | 303 | 9 | 2.02 | 4.45 | 0.0002 | 0.0039 | EE ASD | |
KCNH1 | GRIA1 | KCNQ3 | SCN8A | KCNA1 | CNGA3 | SCN2A | GRIN2A | |||||||||
GO:0003677 | DNA binding | 2309 | 30 | 15.41 | 1.95 | 0.0002 | 0.0039 | - | |
GATAD2B | MYT1L | ZNF292 | DEAF1 | MECP2 | SETBP1 | CTCF | SATB2 | CREBL2 | KDM1B | RBL2 | SON | POGZ | OTX2 | KDM1A | UBTF | DDX3X | RB1 | ZMYM6 | MTF1 | SREBF2 | CTNNB1 | SETDB2 | ELP2 | TCF4 | CUX2 | TBR1 | CHD2 | HIVEP2 | |||||||||
GO:0022843 | voltage-gated cation channel activity | 133 | 6 | 0.89 | 6.76 | 0.0003 | 0.0049 | EE ASD | |
KCNH1 | KCNQ3 | GRIN2A | SCN2A | SCN8A | |||||||||
GO:0005234 | extracellular-glutamate-gated ion channel activity | 19 | 3 | 0.13 | 23.66 | 0.0003 | 0.0049 | EE | |
GRIA1 | GRIN2A | |||||||||
GO:0005261 | cation channel activity | 273 | 8 | 1.82 | 4.39 | 0.0005 | 0.0076 | EE ASD | |
KCNH1 | KCNQ3 | SCN8A | KCNA1 | CNGA3 | SCN2A | GRIN2A | |||||||||
GO:0032453 | histone demethylase activity (H3-K4 specific) | 6 | 2 | 0.04 | 49.95 | 0.0007 | 0.0083 | - | |
KDM1B | |||||||||
GO:0008190 | eukaryotic initiation factor 4E binding | 6 | 2 | 0.04 | 49.95 | 0.0007 | 0.0083 | - | |
DDX3X | |||||||||
GO:0008066 | glutamate receptor activity | 26 | 3 | 0.17 | 17.29 | 0.0007 | 0.0083 | - | |
GRIA1 | GRIN2A | |||||||||
GO:0004972 | N-methyl-D-aspartate selective glutamate receptor activity | 6 | 2 | 0.04 | 49.95 | 0.0007 | 0.0083 | EE | |
GRIN2A | |||||||||
GO:0019899 | enzyme binding | 1086 | 17 | 7.25 | 2.35 | 0.0008 | 0.0090 | - | |
MECP2 | SLC2A1 | LRP1 | DLG4 | AP3B1 | NGFR | DSP | KDM1A | RB1 | CTNNB1 | MTF1 | WAC | TNKS2 | GRIN2A | SMAD6 | ARIH1 | |||||||||
GO:0046873 | metal ion transmembrane transporter activity | 373 | 9 | 2.49 | 3.62 | 0.0009 | 0.0091 | EE ASD | |
KCNH1 | TUSC3 | KCNQ3 | SCN8A | KCNA1 | SLC6A1 | SCN2A | GRIN2A | |||||||||
GO:0005215 | transporter activity | 1196 | 18 | 7.98 | 2.26 | 0.0009 | 0.0091 | EE | |
KCNQ3 | SCN8A | SLC2A1 | LRP2 | COL4A3BP | LRP1 | AP3B1 | SLC26A9 | CNGA3 | GRIN2B | KCNH1 | GRIA1 | TUSC3 | KCNA1 | TNPO2 | SLC6A1 | SCN2A | |||||||||
GO:0001071 | nucleic acid binding transcription factor activity | 1011 | 16 | 6.75 | 2.37 | 0.0010 | 0.0093 | - | |
GATAD2B | MYT1L | MECP2 | CTCF | CREBL2 | SATB2 | OTX2 | KDM1A | RB1 | SREBF2 | CTNNB1 | MTF1 | TCF4 | CUX2 | TBR1 | |||||||||
GO:0003700 | sequence-specific DNA binding transcription factor activity | 1009 | 16 | 6.73 | 2.38 | 0.0010 | 0.0093 | - | |
GATAD2B | MYT1L | MECP2 | CTCF | CREBL2 | SATB2 | OTX2 | KDM1A | RB1 | SREBF2 | CTNNB1 | MTF1 | TCF4 | CUX2 | TBR1 | |||||||||
GO:0005216 | ion channel activity | 393 | 9 | 2.62 | 3.43 | 0.0012 | 0.0103 | EE ASD | |
KCNH1 | GRIA1 | KCNQ3 | SCN8A | KCNA1 | CNGA3 | SCN2A | GRIN2A | |||||||||
GO:0005244 | voltage-gated ion channel activity | 179 | 6 | 1.19 | 5.02 | 0.0013 | 0.0103 | EE ASD | |
KCNH1 | KCNQ3 | GRIN2A | SCN2A | SCN8A | |||||||||
GO:0017124 | SH3 domain binding | 121 | 5 | 0.81 | 6.19 | 0.0013 | 0.0103 | - | |
RAPGEF1 | SYNGAP1 | CTTNBP2 | ELMO2 | |||||||||
GO:0022832 | voltage-gated channel activity | 179 | 6 | 1.19 | 5.02 | 0.0013 | 0.0103 | EE ASD | |
KCNH1 | KCNQ3 | GRIN2A | SCN2A | SCN8A | |||||||||
GO:0000975 | regulatory region DNA binding | 336 | 8 | 2.24 | 3.57 | 0.0018 | 0.0112 | - | |
RB1 | MTF1 | CTNNB1 | SREBF2 | TCF4 | CTCF | SMAD6 | |||||||||
GO:0005515 | protein binding | 7337 | 64 | 48.96 | 1.31 | 0.0019 | 0.0112 | ASD SCZ | |
SLC2A1 | FHDC1 | MYH9 | CREBL2 | KDM1A | SREBF2 | CAP1 | CTNNB1 | ELMO2 | DOK4 | PSMA7 | WAC | TNPO2 | MYO1E | ARIH1 | DEAF1 | PHIP | TUBA1A | ASUN | LRP1 | COL4A3BP | DLG4 | AP3B1 | DSP | SON | UBTF | DDX3X | SMC1A | CTTNBP2 | MAST1 | MECP2 | LRP2 | KIF5C | CTCF | PHACTR1 | RBL2 | POGZ | OTX2 | KCNH1 | GRIA1 | RB1 | MTF1 | TCF4 | GRIN2A | STXBP1 | SMAD6 | NTM | CAMK2G | SPTAN1 | MAP3K1 | RAPGEF1 | STAG1 | BRD3 | SYNGAP1 | CHAMP1 | PACS1 | NGFR | GRIN2B | POP1 | DYNC1H1 | SYNCRIP | TNKS2 | APPL2 | |||||||||
GO:0015267 | channel activity | 420 | 9 | 2.80 | 3.21 | 0.0020 | 0.0112 | EE ASD | |
KCNH1 | GRIA1 | KCNQ3 | SCN8A | KCNA1 | CNGA3 | SCN2A | GRIN2A | |||||||||
GO:0001067 | regulatory region nucleic acid binding | 336 | 8 | 2.24 | 3.57 | 0.0018 | 0.0112 | - | |
RB1 | MTF1 | CTNNB1 | SREBF2 | TCF4 | CTCF | SMAD6 | |||||||||
GO:0022803 | passive transmembrane transporter activity | 420 | 9 | 2.80 | 3.21 | 0.0020 | 0.0112 | EE ASD | |
KCNH1 | GRIA1 | KCNQ3 | SCN8A | KCNA1 | CNGA3 | SCN2A | GRIN2A | |||||||||
GO:0005543 | phospholipid binding | 490 | 10 | 3.27 | 3.06 | 0.0016 | 0.0112 | - | |
DGKH | SYNGAP1 | ELMO2 | DOK4 | APPL2 | COL4A3BP | MYO1E | IQSEC2 | WDR45 | |||||||||
GO:0022838 | substrate-specific channel activity | 402 | 9 | 2.68 | 3.35 | 0.0015 | 0.0112 | EE ASD | |
KCNH1 | GRIA1 | KCNQ3 | SCN8A | KCNA1 | CNGA3 | SCN2A | GRIN2A | |||||||||
GO:0001099 | basal RNA polymerase II transcription machinery binding | 10 | 2 | 0.07 | 29.97 | 0.0019 | 0.0112 | - | |
TCF4 | |||||||||
GO:0001098 | basal transcription machinery binding | 10 | 2 | 0.07 | 29.97 | 0.0019 | 0.0112 | - | |
TCF4 | |||||||||
GO:0003774 | motor activity | 131 | 5 | 0.87 | 5.72 | 0.0018 | 0.0112 | - | |
DYNC1H1 | KIF5C | MYH9 | MYO1E | |||||||||
GO:0044212 | transcription regulatory region DNA binding | 328 | 8 | 2.19 | 3.65 | 0.0016 | 0.0112 | - | |
RB1 | MTF1 | CTNNB1 | SREBF2 | TCF4 | CTCF | SMAD6 | |||||||||
GO:0070411 | I-SMAD binding | 11 | 2 | 0.07 | 27.24 | 0.0023 | 0.0119 | - | |
CTNNB1 | |||||||||
GO:0050681 | androgen receptor binding | 39 | 3 | 0.26 | 11.53 | 0.0022 | 0.0119 | - | |
RB1 | CTNNB1 |
GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of entrichment | Raw P_Value | Adjusted P_Value | Genes related | Other disease |
---|---|---|---|---|---|---|---|---|---|
GO:0035637 | multicellular organismal signaling | 751 | 24 | 4.88 | 4.92 | 4.78e-11 | 4.57e-08 | ID ASD SCZ | |
SCN1A | KCNQ3 | SCN8A | KCNH5 | CACNA1A | GRIN1 | RYR2 | STX1B | PCDHB13 | YWHAG | GRIN2B | KCNQ2 | GABRA1 | KCNB1 | GABRB3 | NLGN2 | PTEN | GABRB1 | ARHGEF15 | SCN2A | RGS14 | STXBP1 | MYO5A | |||||||||
GO:0019226 | transmission of nerve impulse | 735 | 23 | 4.77 | 4.82 | 2.00e-10 | 9.57e-08 | ID ASD SCZ | |
SCN1A | KCNQ3 | SCN8A | KCNH5 | CACNA1A | GRIN1 | STX1B | PCDHB13 | YWHAG | GRIN2B | KCNQ2 | GABRA1 | KCNB1 | GABRB3 | NLGN2 | PTEN | GABRB1 | ARHGEF15 | SCN2A | RGS14 | STXBP1 | MYO5A | |||||||||
GO:0007268 | synaptic transmission | 651 | 20 | 4.23 | 4.73 | 5.15e-09 | 1.64e-06 | ID ASD | |
KCNQ3 | KCNH5 | CACNA1A | GRIN1 | STX1B | PCDHB13 | YWHAG | GRIN2B | KCNQ2 | GABRA1 | KCNB1 | GABRB3 | NLGN2 | PTEN | GABRB1 | ARHGEF15 | RGS14 | STXBP1 | MYO5A | |||||||||
GO:0003008 | system process | 1695 | 32 | 11.01 | 2.91 | 1.08e-08 | 2.58e-06 | SCZ | |
SCN1A | TTN | CNTN5 | KCNQ3 | BEST2 | SCN8A | KCNH5 | CACNA1A | GRIN1 | MYO3A | RYR2 | STX1B | PCDHB13 | MEOX2 | YWHAG | GRIN2B | KCNQ2 | GABRA1 | WNK1 | KCNB1 | GABRB3 | NLGN2 | PTEN | GNAO1 | ARHGEF15 | GABRB1 | MYH6 | SCN2A | RGS14 | STXBP1 | MYO5A | |||||||||
GO:0050877 | neurological system process | 1237 | 26 | 8.03 | 3.24 | 4.87e-08 | 9.32e-06 | ASD | |
SCN1A | CNTN5 | KCNQ3 | BEST2 | SCN8A | KCNH5 | CACNA1A | GRIN1 | MYO3A | STX1B | PCDHB13 | YWHAG | GRIN2B | KCNQ2 | GABRA1 | KCNB1 | GABRB3 | NLGN2 | PTEN | GABRB1 | ARHGEF15 | SCN2A | RGS14 | STXBP1 | MYO5A | |||||||||
GO:0006811 | ion transport | 969 | 22 | 6.29 | 3.50 | 1.80e-07 | 2.87e-05 | - | |
SCN1A | CLCN4 | KCNQ3 | SCN8A | CACNA1A | GRIN1 | RYR2 | KCNT1 | GRIN2B | KCNQ2 | GABRA1 | WNK1 | GABRB3 | NLGN2 | GNAO1 | GABRB1 | SCN2A | STXBP1 | ATP2B4 | MYO5A | AKR1C4 | |||||||||
GO:0042391 | regulation of membrane potential | 248 | 11 | 1.61 | 6.83 | 5.93e-07 | 8.11e-05 | ASD | |
SCN1A | NLGN2 | BEST2 | PTEN | SCN8A | CACNA1A | GRIN1 | RYR2 | SCN2A | MYO5A | |||||||||
GO:0007267 | cell-cell signaling | 1099 | 22 | 7.14 | 3.08 | 1.53e-06 | 0.0002 | ASD | |
KCNQ3 | KCNH5 | CACNA1A | GRIN1 | RYR2 | STX1B | PCDHB13 | YWHAG | GRIN2B | KCNQ2 | GABRA1 | KCNB1 | RFX3 | GABRB3 | NLGN2 | PTEN | ARHGEF15 | GABRB1 | RGS14 | STXBP1 | MYO5A | |||||||||
GO:0051179 | localization | 4167 | 47 | 27.06 | 1.74 | 1.17e-05 | 0.0011 | SCZ | |
SCN1A | TTN | CELSR1 | MTOR | SCN8A | STX1B | NR1H2 | KCNT1 | DCX | WNK1 | NLGN2 | PTEN | CDKL5 | SDCBP2 | NBEA | SCN2A | STXBP1 | MYO5A | SLC1A2 | AKR1C4 | CLCN4 | VPS37A | KCNQ3 | SLC35A2 | CSNK1E | CACNA1A | DNAJC6 | GRIN1 | RYR2 | FLNA | YWHAG | GRIN2B | DNAH7 | SPG7 | GABRA1 | KCNQ2 | KCNB1 | GABRB3 | RFX3 | GNAO1 | THOC2 | GABRB1 | IQSEC2 | RGS14 | SMURF1 | RAB5C | |||||||||
GO:0051899 | membrane depolarization | 78 | 6 | 0.51 | 11.85 | 1.13e-05 | 0.0011 | ASD | |
NLGN2 | BEST2 | PTEN | CACNA1A | GRIN2B | |||||||||
GO:0006810 | transport | 3338 | 40 | 21.68 | 1.85 | 2.12e-05 | 0.0018 | - | |
SCN1A | TTN | MTOR | SCN8A | STX1B | NR1H2 | KCNT1 | WNK1 | NLGN2 | SDCBP2 | SCN2A | STXBP1 | MYO5A | SLC1A2 | AKR1C4 | CLCN4 | VPS37A | KCNQ3 | SLC35A2 | DNAJC6 | CACNA1A | GRIN1 | RYR2 | FLNA | YWHAG | GRIN2B | GABRA1 | KCNQ2 | SPG7 | KCNB1 | GABRB3 | RFX3 | GNAO1 | THOC2 | GABRB1 | IQSEC2 | RGS14 | SMURF1 | RAB5C | |||||||||
GO:0051234 | establishment of localization | 3392 | 40 | 22.03 | 1.82 | 3.15e-05 | 0.0023 | - | |
SCN1A | TTN | MTOR | SCN8A | STX1B | NR1H2 | KCNT1 | WNK1 | NLGN2 | SDCBP2 | SCN2A | STXBP1 | MYO5A | SLC1A2 | AKR1C4 | CLCN4 | VPS37A | KCNQ3 | SLC35A2 | DNAJC6 | CACNA1A | GRIN1 | RYR2 | FLNA | YWHAG | GRIN2B | GABRA1 | KCNQ2 | SPG7 | KCNB1 | GABRB3 | RFX3 | GNAO1 | THOC2 | GABRB1 | IQSEC2 | RGS14 | SMURF1 | RAB5C | |||||||||
GO:0001508 | regulation of action potential | 136 | 7 | 0.88 | 7.93 | 2.87e-05 | 0.0023 | - | |
RYR2 | SCN1A | SCN2A | PTEN | SCN8A | MYO5A | |||||||||
GO:2000463 | positive regulation of excitatory postsynaptic membrane potential | 11 | 3 | 0.07 | 42.00 | 4.21e-05 | 0.0029 | - | |
NLGN2 | PTEN | |||||||||
GO:0044708 | single-organism behavior | 334 | 10 | 2.17 | 4.61 | 6.09e-05 | 0.0039 | ASD | |
SCN1A | CELSR1 | PTEN | GNAO1 | CACNA1A | GRIN1 | RGS14 | MYO5A | GRIN2B | |||||||||
GO:0034220 | ion transmembrane transport | 273 | 9 | 1.77 | 5.08 | 6.96e-05 | 0.0042 | - | |
GABRA1 | GABRB3 | NLGN2 | GRIN1 | RYR2 | GABRB1 | KCNT1 | ATP2B4 | |||||||||
GO:0060079 | regulation of excitatory postsynaptic membrane potential | 36 | 4 | 0.23 | 17.11 | 8.38e-05 | 0.0047 | ID SCZ | |
NLGN2 | PTEN | GRIN2B | |||||||||
GO:0045838 | positive regulation of membrane potential | 16 | 3 | 0.10 | 28.87 | 0.0001 | 0.0050 | - | |
NLGN2 | PTEN | |||||||||
GO:0060078 | regulation of postsynaptic membrane potential | 41 | 4 | 0.27 | 15.02 | 0.0001 | 0.0050 | - | |
NLGN2 | PTEN | GRIN2B | |||||||||
GO:0007154 | cell communication | 4770 | 48 | 30.97 | 1.55 | 0.0002 | 0.0071 | - | |
SCN1A | CELSR1 | MTOR | SCN8A | IFT172 | RASIP1 | STX1B | NR1H2 | DCX | PCDHB13 | WNK1 | RALGAPB | NLGN2 | PTEN | CDKL5 | SDCBP2 | GPR128 | ARHGEF15 | SCN2A | STXBP1 | TAAR2 | MYO5A | WDR45 | SLC1A2 | KCNQ3 | KCNH5 | CSNK1E | CACNA1A | GRIN1 | RYR2 | FLNA | YWHAG | GRIN2B | GABRA1 | KCNQ2 | KCNB1 | TIFA | RFX3 | GABRB3 | RXFP1 | GNAO1 | GABRB1 | MYH6 | IQSEC2 | RGS14 | SMURF1 | RAB5C | |||||||||
GO:0050808 | synapse organization | 135 | 6 | 0.88 | 6.84 | 0.0002 | 0.0071 | - | |
ARHGEF15 | NLGN2 | PTEN | PCDHB13 | CACNA1A | |||||||||
GO:0007399 | nervous system development | 1724 | 24 | 11.19 | 2.14 | 0.0002 | 0.0071 | ID ASD SCZ | |
KCNQ3 | CELSR1 | COL4A4 | SCN8A | CACNA1A | IFT172 | DCX | PCDHB13 | YWHAG | GRIN2B | SPG7 | KCNQ2 | WNK1 | NLGN2 | CDKL5 | PTEN | GNAO1 | SDCBP2 | ARHGEF15 | RGS14 | SCN2A | STXBP1 | MYO5A | |||||||||
GO:0023052 | signaling | 4646 | 47 | 30.17 | 1.56 | 0.0002 | 0.0071 | - | |
SCN1A | CELSR1 | MTOR | SCN8A | IFT172 | RASIP1 | STX1B | NR1H2 | DCX | PCDHB13 | WNK1 | RALGAPB | NLGN2 | PTEN | CDKL5 | SDCBP2 | GPR128 | ARHGEF15 | SCN2A | STXBP1 | TAAR2 | MYO5A | SLC1A2 | KCNQ3 | KCNH5 | CSNK1E | CACNA1A | GRIN1 | RYR2 | FLNA | YWHAG | GRIN2B | GABRA1 | KCNQ2 | KCNB1 | TIFA | GABRB3 | RFX3 | RXFP1 | GNAO1 | GABRB1 | MYH6 | IQSEC2 | RGS14 | SMURF1 | RAB5C | |||||||||
GO:0044057 | regulation of system process | 455 | 11 | 2.95 | 3.72 | 0.0002 | 0.0071 | - | |
WNK1 | NLGN2 | PTEN | GNAO1 | CACNA1A | RYR2 | MYH6 | RGS14 | STXBP1 | YWHAG | |||||||||
GO:0044700 | single organism signaling | 4646 | 47 | 30.17 | 1.56 | 0.0002 | 0.0071 | - | |
SCN1A | CELSR1 | MTOR | SCN8A | IFT172 | RASIP1 | STX1B | NR1H2 | DCX | PCDHB13 | WNK1 | RALGAPB | NLGN2 | PTEN | CDKL5 | SDCBP2 | GPR128 | ARHGEF15 | SCN2A | STXBP1 | TAAR2 | MYO5A | SLC1A2 | KCNQ3 | KCNH5 | CSNK1E | CACNA1A | GRIN1 | RYR2 | FLNA | YWHAG | GRIN2B | GABRA1 | KCNQ2 | KCNB1 | TIFA | GABRB3 | RFX3 | RXFP1 | GNAO1 | GABRB1 | MYH6 | IQSEC2 | RGS14 | SMURF1 | RAB5C | |||||||||
GO:0030029 | actin filament-based process | 465 | 11 | 3.02 | 3.64 | 0.0002 | 0.0071 | - | |
TTN | CELSR1 | MTOR | RYR2 | ARHGEF15 | FLNA | MYH6 | IQSEC2 | DIAPH3 | FHOD1 | |||||||||
GO:0050804 | regulation of synaptic transmission | 186 | 7 | 1.21 | 5.80 | 0.0002 | 0.0071 | - | |
NLGN2 | RGS14 | STXBP1 | PTEN | CACNA1A | YWHAG | |||||||||
GO:0007626 | locomotory behavior | 136 | 6 | 0.88 | 6.79 | 0.0003 | 0.0099 | - | |
SCN1A | CELSR1 | PTEN | GNAO1 | CACNA1A | |||||||||
GO:0050806 | positive regulation of synaptic transmission | 49 | 4 | 0.32 | 12.57 | 0.0003 | 0.0099 | - | |
NLGN2 | RGS14 | PTEN | |||||||||
GO:0072657 | protein localization to membrane | 94 | 5 | 0.61 | 8.19 | 0.0004 | 0.0106 | - | |
FLNA | NLGN2 | CACNA1A | MYO5A | |||||||||
GO:0019228 | regulation of action potential in neuron | 98 | 5 | 0.64 | 7.86 | 0.0004 | 0.0106 | - | |
SCN1A | SCN2A | PTEN | SCN8A | |||||||||
GO:0051969 | regulation of transmission of nerve impulse | 204 | 7 | 1.32 | 5.28 | 0.0004 | 0.0106 | - | |
NLGN2 | RGS14 | STXBP1 | PTEN | CACNA1A | YWHAG | |||||||||
GO:0048167 | regulation of synaptic plasticity | 96 | 5 | 0.62 | 8.02 | 0.0004 | 0.0106 | ID | |
RGS14 | STXBP1 | PTEN | YWHAG | |||||||||
GO:0043113 | receptor clustering | 23 | 3 | 0.15 | 20.09 | 0.0004 | 0.0106 | SCZ | |
FLNA | CACNA1A | |||||||||
GO:0007270 | neuron-neuron synaptic transmission | 94 | 5 | 0.61 | 8.19 | 0.0004 | 0.0106 | - | |
GABRA1 | NLGN2 | STXBP1 | PTEN | |||||||||
GO:0051971 | positive regulation of transmission of nerve impulse | 52 | 4 | 0.34 | 11.85 | 0.0004 | 0.0106 | - | |
NLGN2 | RGS14 | PTEN | |||||||||
GO:0031644 | regulation of neurological system process | 217 | 7 | 1.41 | 4.97 | 0.0005 | 0.0123 | ID | |
NLGN2 | RGS14 | STXBP1 | PTEN | CACNA1A | YWHAG | |||||||||
GO:0031646 | positive regulation of neurological system process | 57 | 4 | 0.37 | 10.81 | 0.0005 | 0.0123 | - | |
NLGN2 | RGS14 | PTEN | |||||||||
GO:0051049 | regulation of transport | 967 | 16 | 6.28 | 2.55 | 0.0005 | 0.0123 | - | |
WNK1 | KCNB1 | RFX3 | NLGN2 | MTOR | GNAO1 | CACNA1A | RYR2 | FLNA | STX1B | NR1H2 | STXBP1 | RAB5C | MYO5A | GRIN2B | |||||||||
GO:0060024 | rhythmic synaptic transmission | 6 | 2 | 0.04 | 51.33 | 0.0006 | 0.0144 | - | |
PTEN |
GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of entrichment | Raw P_Value | Adjusted P_Value | Genes related | Other disease |
---|---|---|---|---|---|---|---|---|---|
GO:0034702 | ion channel complex | 203 | 13 | 1.21 | 10.71 | 2.42e-10 | 4.09e-08 | ASD | |
SCN1A | GABRA1 | KCNQ2 | KCNB1 | GABRB3 | KCNQ3 | BEST2 | SCN8A | CACNA1A | RYR2 | GABRB1 | SCN2A | |||||||||
GO:0033268 | node of Ranvier | 14 | 5 | 0.08 | 59.71 | 1.33e-08 | 1.12e-06 | ID ASD | |
SCN1A | KCNQ2 | KCNQ3 | SCN2A | |||||||||
GO:0033267 | axon part | 133 | 9 | 0.80 | 11.31 | 1.01e-07 | 4.27e-06 | ID ASD | |
SCN1A | KCNQ2 | KCNQ3 | SCN8A | GRIN1 | SCN2A | SMURF1 | GRIN2B | |||||||||
GO:0034703 | cation channel complex | 132 | 9 | 0.79 | 11.40 | 9.46e-08 | 4.27e-06 | ASD | |
SCN1A | KCNQ2 | KCNB1 | KCNQ3 | SCN8A | CACNA1A | RYR2 | SCN2A | |||||||||
GO:0043194 | axon initial segment | 9 | 4 | 0.05 | 74.31 | 1.49e-07 | 4.90e-06 | - | |
SCN1A | KCNQ2 | KCNQ3 | |||||||||
GO:0044304 | main axon | 42 | 6 | 0.25 | 23.88 | 1.74e-07 | 4.90e-06 | ID | |
SCN1A | KCNQ2 | KCNQ3 | SCN2A | SCN8A | |||||||||
GO:0043005 | neuron projection | 651 | 17 | 3.89 | 4.37 | 2.93e-07 | 7.07e-06 | ID ASD | |
SCN1A | KCNQ3 | MTOR | SCN8A | CACNA1A | GRIN1 | DCX | GRIN2B | KCNQ2 | CDKL5 | PTEN | ARHGEF15 | RGS14 | SCN2A | SMURF1 | MYO5A | |||||||||
GO:0042995 | cell projection | 1230 | 23 | 7.36 | 3.13 | 7.37e-07 | 1.56e-05 | ID ASD | |
SCN1A | KCNQ3 | BEST2 | MTOR | SCN8A | CACNA1A | GRIN1 | MYO3A | IFT172 | DCX | FHOD1 | GRIN2B | DNAH7 | KCNQ2 | CDKL5 | PTEN | WDR19 | ARHGEF15 | RGS14 | SCN2A | SMURF1 | MYO5A | |||||||||
GO:0030018 | Z disc | 72 | 6 | 0.43 | 13.93 | 4.48e-06 | 8.41e-05 | ID ASD | |
RYR2 | SCN1A | TTN | MYH6 | SCN8A | |||||||||
GO:0016605 | PML body | 75 | 6 | 0.45 | 13.37 | 5.69e-06 | 9.62e-05 | - | |
THAP1 | TRIM8 | RGS14 | PTEN | MTOR | |||||||||
GO:0031674 | I band | 84 | 6 | 0.50 | 11.94 | 1.10e-05 | 0.0002 | ASD | |
RYR2 | SCN1A | TTN | MYH6 | SCN8A | |||||||||
GO:0044463 | cell projection part | 639 | 14 | 3.82 | 3.66 | 2.64e-05 | 0.0004 | ID ASD | |
SCN1A | KCNQ2 | KCNQ3 | CDKL5 | SCN8A | WDR19 | GRIN1 | SCN2A | RGS14 | SMURF1 | MYO5A | GRIN2B | DNAH7 | |||||||||
GO:0097060 | synaptic membrane | 215 | 8 | 1.29 | 6.22 | 4.45e-05 | 0.0006 | ASD | |
GABRA1 | GABRB3 | NLGN2 | GRIN1 | GABRB1 | RGS14 | SLC1A2 | |||||||||
GO:0030424 | axon | 286 | 9 | 1.71 | 5.26 | 5.43e-05 | 0.0007 | ID ASD | |
SCN1A | KCNQ2 | KCNQ3 | SCN8A | GRIN1 | SCN2A | SMURF1 | GRIN2B | |||||||||
GO:0001518 | voltage-gated sodium channel complex | 14 | 3 | 0.08 | 35.83 | 7.21e-05 | 0.0008 | - | |
SCN1A | SCN2A | |||||||||
GO:0045211 | postsynaptic membrane | 184 | 7 | 1.10 | 6.36 | 0.0001 | 0.0009 | - | |
GABRA1 | GABRB1 | GABRB3 | NLGN2 | RGS14 | GRIN2B | |||||||||
GO:0034706 | sodium channel complex | 17 | 3 | 0.10 | 29.50 | 0.0001 | 0.0009 | - | |
SCN1A | SCN2A | |||||||||
GO:0030017 | sarcomere | 128 | 6 | 0.77 | 7.84 | 0.0001 | 0.0009 | ASD | |
RYR2 | SCN1A | TTN | MYH6 | SCN8A | |||||||||
GO:0044449 | contractile fiber part | 145 | 6 | 0.87 | 6.92 | 0.0002 | 0.0018 | ASD | |
RYR2 | SCN1A | TTN | MYH6 | SCN8A | |||||||||
GO:0030425 | dendrite | 355 | 9 | 2.12 | 4.24 | 0.0003 | 0.0022 | ID ASD | |
CDKL5 | MTOR | CACNA1A | GRIN1 | ARHGEF15 | RGS14 | DCX | GRIN2B | |||||||||
GO:0005886 | plasma membrane | 4289 | 42 | 25.65 | 1.64 | 0.0003 | 0.0022 | ASD | |
SCN1A | CELSR1 | SCN8A | STX1B | KCNT1 | PCDHB13 | ARSA | NLGN2 | PTEN | PIK3AP1 | CDKL5 | SDCBP2 | GPR128 | NBEA | SLAMF1 | SCN2A | STXBP1 | TAAR2 | SLC1A2 | CNTN5 | KCNQ3 | BEST2 | KCNH5 | CACNA1A | FASN | GRIN1 | RYR2 | FLNA | GRIN2B | GABRA1 | KCNQ2 | DDX50 | KCNB1 | GABRB3 | RXFP1 | GNAO1 | OR10S1 | GABRB1 | RGS14 | SMURF1 | RAB5C | |||||||||
GO:0034707 | chloride channel complex | 55 | 4 | 0.33 | 12.16 | 0.0003 | 0.0022 | - | |
GABRA1 | GABRB1 | GABRB3 | |||||||||
GO:0030016 | myofibril | 152 | 6 | 0.91 | 6.60 | 0.0003 | 0.0022 | ASD | |
RYR2 | SCN1A | TTN | MYH6 | SCN8A | |||||||||
GO:0071944 | cell periphery | 4377 | 42 | 26.18 | 1.60 | 0.0004 | 0.0027 | ASD | |
SCN1A | CELSR1 | SCN8A | STX1B | KCNT1 | PCDHB13 | ARSA | NLGN2 | PTEN | PIK3AP1 | CDKL5 | SDCBP2 | GPR128 | NBEA | SLAMF1 | SCN2A | STXBP1 | TAAR2 | SLC1A2 | CNTN5 | KCNQ3 | BEST2 | KCNH5 | CACNA1A | FASN | GRIN1 | RYR2 | FLNA | GRIN2B | GABRA1 | KCNQ2 | DDX50 | KCNB1 | GABRB3 | RXFP1 | GNAO1 | OR10S1 | GABRB1 | RGS14 | SMURF1 | RAB5C | |||||||||
GO:0043292 | contractile fiber | 162 | 6 | 0.97 | 6.19 | 0.0004 | 0.0027 | ASD | |
RYR2 | SCN1A | TTN | MYH6 | SCN8A | |||||||||
GO:0043083 | synaptic cleft | 7 | 2 | 0.04 | 47.77 | 0.0007 | 0.0046 | - | |
GRIN2B | |||||||||
GO:0008076 | voltage-gated potassium channel complex | 70 | 4 | 0.42 | 9.55 | 0.0008 | 0.0048 | - | |
KCNQ2 | KCNB1 | KCNQ3 | |||||||||
GO:0034705 | potassium channel complex | 70 | 4 | 0.42 | 9.55 | 0.0008 | 0.0048 | - | |
KCNQ2 | KCNB1 | KCNQ3 | |||||||||
GO:0017146 | N-methyl-D-aspartate selective glutamate receptor complex | 8 | 2 | 0.05 | 41.80 | 0.0010 | 0.0058 | - | |
GRIN2B | |||||||||
GO:0043234 | protein complex | 3278 | 33 | 19.61 | 1.68 | 0.0011 | 0.0062 | ID ASD | |
SCN1A | TAF1 | MTOR | SCN8A | MYO3A | KCNT1 | DCX | EEF1A2 | HADHB | CHD4 | SCN2A | STXBP1 | MYO5A | KCNQ3 | BEST2 | CACNA1A | GRIN1 | N6AMT1 | RYR2 | FLNA | DNAH7 | GRIN2B | GABRA1 | KCNQ2 | RARS | GABRB3 | RFX3 | KCNB1 | THOC2 | GNAO1 | GABRB1 | MYH6 | |||||||||
GO:0030288 | outer membrane-bounded periplasmic space | 9 | 2 | 0.05 | 37.15 | 0.0012 | 0.0063 | - | |
GRIN2B | |||||||||
GO:0042597 | periplasmic space | 9 | 2 | 0.05 | 37.15 | 0.0012 | 0.0063 | - | |
GRIN2B | |||||||||
GO:0016604 | nuclear body | 274 | 7 | 1.64 | 4.27 | 0.0013 | 0.0067 | - | |
THAP1 | TRIM8 | RGS14 | PTEN | MTOR | HIPK3 | |||||||||
GO:0044456 | synapse part | 370 | 8 | 2.21 | 3.61 | 0.0017 | 0.0085 | ASD | |
GABRA1 | GABRB3 | NLGN2 | GRIN1 | GABRB1 | RGS14 | SLC1A2 | |||||||||
GO:0044459 | plasma membrane part | 1918 | 22 | 11.47 | 1.92 | 0.0019 | 0.0092 | ASD | |
SCN1A | KCNQ3 | CELSR1 | SCN8A | CACNA1A | GRIN1 | STX1B | KCNT1 | GRIN2B | KCNQ2 | GABRA1 | KCNB1 | GABRB3 | NLGN2 | CDKL5 | PTEN | GNAO1 | SLAMF1 | GABRB1 | SCN2A | ATP2B4 | |||||||||
GO:0005887 | integral to plasma membrane | 1220 | 16 | 7.30 | 2.19 | 0.0023 | 0.0108 | ASD | |
SCN1A | GABRA1 | KCNQ2 | KCNB1 | GABRB3 | KCNQ3 | NLGN2 | CELSR1 | SCN8A | GRIN1 | GABRB1 | STX1B | SCN2A | KCNT1 | ATP2B4 | |||||||||
GO:0030313 | cell envelope | 13 | 2 | 0.08 | 25.72 | 0.0026 | 0.0116 | - | |
GRIN2B | |||||||||
GO:0044462 | external encapsulating structure part | 13 | 2 | 0.08 | 25.72 | 0.0026 | 0.0116 | - | |
GRIN2B | |||||||||
GO:0031226 | intrinsic to plasma membrane | 1264 | 16 | 7.56 | 2.12 | 0.0033 | 0.0143 | ASD | |
SCN1A | GABRA1 | KCNQ2 | KCNB1 | GABRB3 | KCNQ3 | NLGN2 | CELSR1 | SCN8A | GRIN1 | GABRB1 | STX1B | SCN2A | KCNT1 | ATP2B4 | |||||||||
GO:0030312 | external encapsulating structure | 16 | 2 | 0.10 | 20.90 | 0.0040 | 0.0169 | - | |
GRIN2B | GRIN1 |
GO term accession | GO term name | Number of reference genes | Number of genes | Expected number | Ratio of entrichment | Raw P_Value | Adjusted P_Value | Genes related | Other disease |
---|---|---|---|---|---|---|---|---|---|
GO:0022836 | gated channel activity | 303 | 17 | 1.92 | 8.84 | 6.53e-12 | 6.56e-10 | ID ASD | |
SCN1A | CLCN4 | KCNQ3 | SCN8A | KCNH5 | CACNA1A | GRIN1 | RYR2 | STX1B | KCNT1 | GRIN2B | KCNQ2 | GABRA1 | GABRB3 | KCNB1 | GABRB1 | |||||||||
GO:0022839 | ion gated channel activity | 303 | 17 | 1.92 | 8.84 | 6.53e-12 | 6.56e-10 | ID ASD | |
SCN1A | CLCN4 | KCNQ3 | SCN8A | KCNH5 | CACNA1A | GRIN1 | RYR2 | STX1B | KCNT1 | GRIN2B | KCNQ2 | GABRA1 | GABRB3 | KCNB1 | GABRB1 | |||||||||
GO:0005216 | ion channel activity | 393 | 18 | 2.49 | 7.22 | 4.30e-11 | 2.88e-09 | ID ASD | |
SCN1A | CLCN4 | KCNQ3 | BEST2 | SCN8A | KCNH5 | CACNA1A | GRIN1 | RYR2 | STX1B | KCNT1 | GRIN2B | KCNQ2 | GABRA1 | GABRB3 | KCNB1 | GABRB1 | |||||||||
GO:0022838 | substrate-specific channel activity | 402 | 18 | 2.55 | 7.06 | 6.23e-11 | 3.13e-09 | ID ASD | |
SCN1A | CLCN4 | KCNQ3 | BEST2 | SCN8A | KCNH5 | CACNA1A | GRIN1 | RYR2 | STX1B | KCNT1 | GRIN2B | KCNQ2 | GABRA1 | GABRB3 | KCNB1 | GABRB1 | |||||||||
GO:0015267 | channel activity | 420 | 18 | 2.67 | 6.75 | 1.27e-10 | 4.25e-09 | ID ASD | |
SCN1A | CLCN4 | KCNQ3 | BEST2 | SCN8A | KCNH5 | CACNA1A | GRIN1 | RYR2 | STX1B | KCNT1 | GRIN2B | KCNQ2 | GABRA1 | GABRB3 | KCNB1 | GABRB1 | |||||||||
GO:0022803 | passive transmembrane transporter activity | 420 | 18 | 2.67 | 6.75 | 1.27e-10 | 4.25e-09 | ID ASD | |
SCN1A | CLCN4 | KCNQ3 | BEST2 | SCN8A | KCNH5 | CACNA1A | GRIN1 | RYR2 | STX1B | KCNT1 | GRIN2B | KCNQ2 | GABRA1 | GABRB3 | KCNB1 | GABRB1 | |||||||||
GO:0015075 | ion transmembrane transporter activity | 786 | 23 | 4.99 | 4.61 | 4.99e-10 | 1.43e-08 | - | |
SCN1A | CLCN4 | KCNQ3 | BEST2 | SLC35A2 | SCN8A | KCNH5 | MRS2 | CACNA1A | GRIN1 | RYR2 | STX1B | KCNT1 | GRIN2B | KCNQ2 | GABRA1 | KCNB1 | GABRB3 | GABRB1 | SCN2A | ATP2B4 | AKR1C4 | |||||||||
GO:0022891 | substrate-specific transmembrane transporter activity | 845 | 23 | 5.36 | 4.29 | 2.03e-09 | 5.10e-08 | - | |
SCN1A | CLCN4 | KCNQ3 | BEST2 | SLC35A2 | SCN8A | KCNH5 | MRS2 | CACNA1A | GRIN1 | RYR2 | STX1B | KCNT1 | GRIN2B | KCNQ2 | GABRA1 | KCNB1 | GABRB3 | GABRB1 | SCN2A | ATP2B4 | AKR1C4 | |||||||||
GO:0046873 | metal ion transmembrane transporter activity | 373 | 15 | 2.37 | 6.34 | 1.23e-08 | 2.47e-07 | ID ASD | |
SCN1A | KCNQ2 | KCNB1 | KCNQ3 | SCN8A | KCNH5 | MRS2 | CACNA1A | GRIN1 | RYR2 | SCN2A | KCNT1 | ATP2B4 | GRIN2B | |||||||||
GO:0022857 | transmembrane transporter activity | 925 | 23 | 5.87 | 3.92 | 1.13e-08 | 2.47e-07 | - | |
SCN1A | CLCN4 | KCNQ3 | BEST2 | SLC35A2 | SCN8A | KCNH5 | MRS2 | CACNA1A | GRIN1 | RYR2 | STX1B | KCNT1 | GRIN2B | KCNQ2 | GABRA1 | KCNB1 | GABRB3 | GABRB1 | SCN2A | ATP2B4 | AKR1C4 | |||||||||
GO:0022892 | substrate-specific transporter activity | 980 | 23 | 6.22 | 3.70 | 3.30e-08 | 6.03e-07 | ID ASD | |
SCN1A | CLCN4 | KCNQ3 | BEST2 | SLC35A2 | SCN8A | KCNH5 | MRS2 | CACNA1A | GRIN1 | RYR2 | STX1B | KCNT1 | GRIN2B | KCNQ2 | GABRA1 | KCNB1 | GABRB3 | GABRB1 | SCN2A | ATP2B4 | AKR1C4 | |||||||||
GO:0005261 | cation channel activity | 273 | 12 | 1.73 | 6.93 | 1.53e-07 | 2.52e-06 | ID ASD | |
SCN1A | KCNQ2 | KCNB1 | KCNQ3 | SCN8A | KCNH5 | CACNA1A | GRIN1 | RYR2 | SCN2A | KCNT1 | |||||||||
GO:0022843 | voltage-gated cation channel activity | 133 | 9 | 0.84 | 10.66 | 1.63e-07 | 2.52e-06 | ID ASD | |
SCN1A | KCNQ2 | KCNB1 | KCNQ3 | SCN2A | KCNT1 | SCN8A | KCNH5 | |||||||||
GO:0022832 | voltage-gated channel activity | 179 | 10 | 1.14 | 8.80 | 1.97e-07 | 2.64e-06 | ID ASD | |
SCN1A | KCNQ2 | CLCN4 | KCNB1 | KCNQ3 | SCN8A | KCNH5 | CACNA1A | SCN2A | |||||||||
GO:0005244 | voltage-gated ion channel activity | 179 | 10 | 1.14 | 8.80 | 1.97e-07 | 2.64e-06 | ID ASD | |
SCN1A | KCNQ2 | CLCN4 | KCNB1 | KCNQ3 | SCN8A | KCNH5 | CACNA1A | SCN2A | |||||||||
GO:0022890 | inorganic cation transmembrane transporter activity | 470 | 15 | 2.98 | 5.03 | 2.55e-07 | 3.20e-06 | ASD | |
SCN1A | KCNQ2 | KCNB1 | KCNQ3 | SCN8A | KCNH5 | MRS2 | CACNA1A | GRIN1 | RYR2 | SCN2A | KCNT1 | ATP2B4 | GRIN2B | |||||||||
GO:0008324 | cation transmembrane transporter activity | 568 | 16 | 3.60 | 4.44 | 5.22e-07 | 6.17e-06 | - | |
SCN1A | KCNQ2 | KCNB1 | KCNQ3 | SLC35A2 | SCN8A | KCNH5 | MRS2 | CACNA1A | GRIN1 | RYR2 | SCN2A | KCNT1 | ATP2B4 | GRIN2B | |||||||||
GO:0005516 | calmodulin binding | 164 | 9 | 1.04 | 8.65 | 9.65e-07 | 1.08e-05 | - | |
TTN | KCNH5 | CACNA1A | GRIN1 | MYO3A | RYR2 | MYH6 | MYO5A | |||||||||
GO:0005215 | transporter activity | 1196 | 23 | 7.59 | 3.03 | 1.17e-06 | 1.24e-05 | ID | |
SCN1A | CLCN4 | KCNQ3 | BEST2 | SLC35A2 | SCN8A | KCNH5 | MRS2 | CACNA1A | GRIN1 | RYR2 | STX1B | KCNT1 | GRIN2B | KCNQ2 | GABRA1 | KCNB1 | GABRB3 | GABRB1 | SCN2A | ATP2B4 | AKR1C4 | |||||||||
GO:0005230 | extracellular ligand-gated ion channel activity | 73 | 6 | 0.46 | 12.95 | 6.75e-06 | 6.78e-05 | - | |
GABRA1 | GABRB1 | GABRB3 | STX1B | GRIN2B | |||||||||
GO:0022834 | ligand-gated channel activity | 137 | 7 | 0.87 | 8.05 | 2.62e-05 | 0.0002 | - | |
RYR2 | GABRA1 | GABRB1 | GABRB3 | STX1B | GRIN2B | |||||||||
GO:0015276 | ligand-gated ion channel activity | 137 | 7 | 0.87 | 8.05 | 2.62e-05 | 0.0002 | - | |
RYR2 | GABRA1 | GABRB1 | GABRB3 | STX1B | GRIN2B | |||||||||
GO:0005254 | chloride channel activity | 70 | 5 | 0.44 | 11.25 | 8.11e-05 | 0.0007 | - | |
GABRA1 | GABRB1 | CLCN4 | GABRB3 | |||||||||
GO:0005253 | anion channel activity | 79 | 5 | 0.50 | 9.97 | 0.0001 | 0.0008 | - | |
GABRA1 | GABRB1 | CLCN4 | GABRB3 | |||||||||
GO:0005248 | voltage-gated sodium channel activity | 15 | 3 | 0.10 | 31.51 | 0.0001 | 0.0008 | - | |
SCN1A | SCN2A | |||||||||
GO:0005249 | voltage-gated potassium channel activity | 78 | 5 | 0.50 | 10.10 | 0.0001 | 0.0008 | - | |
KCNQ2 | KCNB1 | KCNQ3 | KCNT1 | |||||||||
GO:0005234 | extracellular-glutamate-gated ion channel activity | 19 | 3 | 0.12 | 24.88 | 0.0002 | 0.0013 | ID | |
STX1B | GRIN2B | |||||||||
GO:0015077 | monovalent inorganic cation transmembrane transporter activity | 318 | 9 | 2.02 | 4.46 | 0.0002 | 0.0013 | - | |
SCN1A | KCNQ2 | KCNB1 | KCNQ3 | SCN8A | KCNH5 | SCN2A | KCNT1 | |||||||||
GO:0004890 | GABA-A receptor activity | 19 | 3 | 0.12 | 24.88 | 0.0002 | 0.0013 | - | |
GABRA1 | GABRB1 | |||||||||
GO:0008509 | anion transmembrane transporter activity | 247 | 8 | 1.57 | 5.10 | 0.0002 | 0.0013 | - | |
GABRA1 | GABRB1 | CLCN4 | GABRB3 | BEST2 | SLC35A2 | SLC1A2 | |||||||||
GO:0015108 | chloride transmembrane transporter activity | 83 | 5 | 0.53 | 9.49 | 0.0002 | 0.0013 | - | |
GABRA1 | GABRB1 | CLCN4 | GABRB3 | |||||||||
GO:0015103 | inorganic anion transmembrane transporter activity | 128 | 6 | 0.81 | 7.39 | 0.0002 | 0.0013 | - | |
GABRA1 | GABRB1 | CLCN4 | GABRB3 | BEST2 | |||||||||
GO:0016917 | GABA receptor activity | 22 | 3 | 0.14 | 21.49 | 0.0003 | 0.0017 | - | |
GABRA1 | GABRB1 | |||||||||
GO:0072509 | divalent inorganic cation transmembrane transporter activity | 139 | 6 | 0.88 | 6.80 | 0.0003 | 0.0017 | - | |
RYR2 | ATP2B4 | MRS2 | CACNA1A | GRIN2B | |||||||||
GO:0000146 | microfilament motor activity | 20 | 3 | 0.13 | 23.64 | 0.0003 | 0.0017 | - | |
MYH6 | MYO5A | |||||||||
GO:0043168 | anion binding | 2402 | 29 | 15.24 | 1.90 | 0.0003 | 0.0017 | ASD SCZ | |
TTN | CLCN4 | TAF1 | MTOR | SCN8A | CSNK1E | GRIN1 | FASN | MYO3A | GRIN2B | DNAH7 | SPG7 | RARS | WNK1 | DDX50 | CDKL5 | GNAO1 | EEF1A2 | RIOK3 | HADHB | DHTKD1 | CHD2 | CHD4 | MYH6 | RAB5C | HIPK3 | ATP2B4 | WDR45 | |||||||||
GO:0004972 | N-methyl-D-aspartate selective glutamate receptor activity | 6 | 2 | 0.04 | 52.52 | 0.0006 | 0.0033 | ID | |
GRIN2B | |||||||||
GO:0005267 | potassium channel activity | 110 | 5 | 0.70 | 7.16 | 0.0007 | 0.0037 | - | |
KCNQ2 | KCNB1 | KCNQ3 | KCNT1 | |||||||||
GO:0015085 | calcium ion transmembrane transporter activity | 113 | 5 | 0.72 | 6.97 | 0.0008 | 0.0041 | ASD | |
RYR2 | ATP2B4 | CACNA1A | GRIN2B | |||||||||
GO:0035639 | purine ribonucleoside triphosphate binding | 1829 | 23 | 11.61 | 1.98 | 0.0009 | 0.0044 | ASD SCZ | |
TTN | CLCN4 | TAF1 | MTOR | SCN8A | CSNK1E | MYO3A | DNAH7 | SPG7 | WNK1 | RARS | DDX50 | CDKL5 | GNAO1 | EEF1A2 | RIOK3 | CHD2 | CHD4 | MYH6 | RAB5C | HIPK3 | ATP2B4 |
Copyright © 2014 Beijing Institutes of Life Science, Chinese Academy of Sciences & Institute of Genomic Medicine, Wenzhou Medical University