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library(data.table)
f = fread("/storage11_7T/fuy/TADA-A/cell_WES/DNM/indel_rate/0513/17_indel-snv_ASD_risk_gene_GO.lst")[,c(-2,-6)]
f
A data.table: 17 × 12
MyListGene SymbolDescriptionBiological Process (GO)Protein Function (Protein Atlas)Subcellular Location (Protein Atlas)Canonical Pathways GO:0048812 neuron projection morphogenesiGO:0043161 proteasome-mediated ubiquitin-GO:1905114 cell surface receptor signalinGO:0048589 developmental growthGO:0000226 microtubule cytoskeleton organ
<chr><chr><chr><chr><chr><chr><chr><int><int><int><int><int>
BCL11A BCL11A BAF chromatin remodeling complex subunit BCL11A GO:1904799 regulation of neuron remodeling;GO:1904800 negative regulation of neuron remodeling;GO:2000173 negative regulation of branching morphogenesis of a nerve Disease related genes; Predicted intracellular proteins; Transcription factors:Zinc-coordinating DNA-binding domains; Cancer-related genes:Candidate cancer biomarkers Nucleoplasm (Supported); Additional: Nuclear bodies 10010
CELF4 CELF4 CUGBP Elav-like family member 4 GO:1902866 regulation of retina development in camera-type eye;GO:0090394 negative regulation of excitatory postsynaptic potential;GO:0048025 negative regulation of mRNA splicing, via spliceosome Predicted intracellular proteins Nucleoplasm (Supported) 10100
CTNNB1 CTNNB1 catenin beta 1 GO:0061324 canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation;GO:1901963 regulation of cell proliferation involved in outflow tract morphogenesis;GO:0044334 canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transitionCancer-related genes:Mutated cancer genes; Predicted intracellular proteins; Cancer-related genes:Mutational cancer driver genes; Disease related genes; Cancer-related genes:Candidate cancer biomarkersPlasma membrane (Enhanced) (M31)PID BETA CATENIN DEG PATHWAY; (M90)PID WNT CANONICAL PATHWAY; (M184)PID ECADHERIN KERATINOCYTE PATHWAY11111
DIP2A DIP2A disco interacting protein 2 homolog A GO:0006085 acetyl-CoA biosynthetic process;GO:2000758 positive regulation of peptidyl-lysine acetylation;GO:0006084 acetyl-CoA metabolic process Predicted intracellular proteins Nucleoplasm (Approved) 10000
GIGYF1 GIGYF1 GRB10 interacting GYF protein 1 Predicted intracellular proteins Vesicles (Approved); Additional: Microtubules 00000
KDM6B KDM6B lysine demethylase 6B GO:0071557 histone H3-K27 demethylation;GO:0060992 response to fungicide;GO:0070076 histone lysine demethylation Predicted intracellular proteins Nuclear speckles (Approved) 01100
MBD5 MBD5 methyl-CpG binding domain protein 5 GO:0060399 positive regulation of growth hormone receptor signaling pathway;GO:0060398 regulation of growth hormone receptor signaling pathway;GO:0060396 growth hormone receptor signaling pathway Predicted intracellular proteins; Disease related genes Midbody;Nucleoplasm (Supported) 00010
POGZ POGZ pogo transposable element derived with ZNF domain GO:0051382 kinetochore assembly;GO:0051383 kinetochore organization;GO:0007064 mitotic sister chromatid cohesion Predicted intracellular proteins; Transcription factors:Zinc-coordinating DNA-binding domains; Disease related genes Nucleoplasm (Enhanced) 01000
PRPF4B PRPF4B pre-mRNA processing factor 4B GO:0045292 mRNA cis splicing, via spliceosome;GO:0000377 RNA splicing, via transesterification reactions with bulged adenosine as nucleophile;GO:0000398 mRNA splicing, via spliceosome Enzymes; Predicted intracellular proteins; Kinases:CMGC Ser/Thr protein kinases; ENZYME proteins:Transferases Nuclear speckles (Supported) 00000
SLC16A1SLC16A1solute carrier family 16 member 1 GO:0015728 mevalonate transport;GO:0051780 behavioral response to nutrient;GO:0035879 plasma membrane lactate transport Transporters:Electrochemical Potential-driven transporters; Disease related genes; Potential drug targets Cell Junctions;Plasma membrane (Enhanced) 00001
TANC2 TANC2 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2GO:0032253 dense core granule localization;GO:0099519 dense core granule cytoskeletal transport;GO:1901950 dense core granule transport Predicted intracellular proteins; Disease related genes Cytosol (Approved) 10000
TAOK1 TAOK1 TAO kinase 1 GO:0007095 mitotic G2 DNA damage checkpoint;GO:0007026 negative regulation of microtubule depolymerization;GO:0031114 regulation of microtubule depolymerization Enzymes; Predicted intracellular proteins; Kinases:STE Ser/Thr protein kinases; ENZYME proteins:Transferases Vesicles (Uncertain) (M20)PID P38 MKK3 6PATHWAY 10001
TBL1XR1TBL1XR1TBL1X receptor 1 GO:0016575 histone deacetylation;GO:0006476 protein deacetylation;GO:0035601 protein deacylation Cancer-related genes:Mutated cancer genes; Predicted intracellular proteins; Cancer-related genes:Mutational cancer driver genes; Disease related genes Nucleoplasm (Approved) (M223)PID BETA CATENIN NUC PATHWAY 01100
TECTA TECTA tectorin alpha GO:0007605 sensory perception of sound;GO:0050954 sensory perception of mechanical stimulus;GO:0007160 cell-matrix adhesion Disease related genes; Predicted secreted proteins (M3008)NABA ECM GLYCOPROTEINS; (M5884)NABA CORE MATRISOME; (M5889)NABA MATRISOME 00000
TLK2 TLK2 tousled like kinase 2 GO:0001672 regulation of chromatin assembly or disassembly;GO:0071480 cellular response to gamma radiation;GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process Enzymes; Predicted intracellular proteins; Kinases; ENZYME proteins:Transferases 01000
TNRC6B TNRC6B trinucleotide repeat containing adaptor 6B GO:1905616 regulation of miRNA mediated inhibition of translation;GO:1905618 positive regulation of miRNA mediated inhibition of translation;GO:0060213 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening Predicted intracellular proteins 00100
WAC WAC WW domain containing adaptor with coiled-coil GO:0071894 histone H2B conserved C-terminal lysine ubiquitination;GO:0033523 histone H2B ubiquitination;GO:0010390 histone monoubiquitination Predicted intracellular proteins; Disease related genes Nucleoplasm (Enhanced) 01001

GO

gNkvAx.png

DisGeNET (gene-disease association)

g0LjIS.png

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