[{"type":"protein-coding","geneconstraints_synonymous":-0.183,"genesymbol":"APOA1","clinvar_pathogenic":31,"geneconstraints_lof":0,"chromosome":11,"reactome_pathways":[{"name":"<b>nascent chylomicron [endoplasmic reticulum lumen] => nascent chylomicron [extracellular]</b>","id":174587},{"name":"nascent chylomicron + spherical HDL:apoC-II:apoC-III:apoE =>spherical  HDL + chylomicron","id":174660},{"id":174690,"name":"TG-depleted chylomicron + spherical HDL => chylomicron remnant + spherical HDL:apoA-I:apoA-II:apoA-IV:apoC-II:apoC-III"},{"id":174741,"name":"ApoB-48:TG:PL complex + 100 triacylglycerols + ApoA-I + ApoA-IV => nascent chylomicron"},{"id":174757,"name":"chylomicron => TG-depleted chylomicron + 50 long-chain fatty acids + 50 diacylglycerols"},{"id":216723,"name":"4xPALM-C-p-2S-ABCA1 tetramer transports CHOL from transport vesicle membrane to plasma membrane"},{"name":"4xPALM-C-p-2S-ABCA1 tetramer binds APOA1","id":216727},{"name":"Apolipoprotein A-I binds membrane-associated cholesterol and phospholipid to form a discoidal HDL particle","id":216756},{"id":216757,"name":"4xPALM-C-p-2S-ABCA1 tetramer transports PL from transport vesicle membrane to plasma membrane"},{"id":264678,"name":"LCAT + discoidal HDL <=> LCAT:discoidal HDL complex"},{"id":264689,"name":"LCAT:discoidal HDL complex <=> LCAT + discoidal HDL"},{"name":"cholesterol + phosphatidylcholine (lecithin) => cholesterol ester + 2-lysophosphatidylcholine (lysolecithin)","id":264695},{"name":"BMP1-3:Zn2+ cleaves pro-APOA1 to APOA1","id":264758},{"name":"Endocytosis and degradation of apoA-I","id":264834},{"name":"apoA-I binds to CUBN:AMN","id":264848},{"id":266089,"name":"Discoidal HDL binds membrane-associated free cholesterol"},{"id":266299,"name":"Spherical HDL binds membrane-associated free cholesterol and phospholipids"},{"name":"Spherical HDL binds C and E apolipoproteins","id":266303},{"id":266310,"name":"LCAT:spherical HDL complex <=> LCAT + spherical HDL"},{"id":266315,"name":"LCAT + spherical HDL <=> LCAT:spherical HDL complex"},{"name":"CETP-mediated lipid exchange: spherical HDL gains triacylglycerol","id":266328},{"id":349404,"name":"CETP + spherical HDL + torcetrapib => CETP:spherical HDL:torcetrapib complex"},{"id":349637,"name":"spherical HDL and SR-BI receptor form a complex at the cell surface"},{"id":349638,"name":"Disassembly of SR-BI-bound spherical HDL"},{"name":"pre-beta HDL binds membrane-associated cholesterol and phospholipid to form a discoidal HDL particle","id":349657},{"id":382553,"name":"ABCA7:Apo1A-mediated phospholipid efflux"},{"name":"Release of platelet secretory granule components","id":482770},{"id":976734,"name":"Amyloid fibrils have additional components"},{"id":977136,"name":"Amyloid precursor proteins form ordered fibrils"},{"name":"Expression of APOA1","id":1989754},{"name":"Haptoglobin-related Protein binds Hemoglobin","id":2168889},{"id":2173778,"name":"MSR1 (SCARA1, SR-A) binds ligands"},{"id":2187264,"name":"Platelet glycoprotein IV (CD36) binds ligands"},{"name":"Cytosolic CMs translocate to extracellular region","id":2187332},{"name":"SCARB1 (SR-BI, CLA-1) binds ligands","id":2197646},{"name":"Platelet glycoprotein IV:ligand (CD36:ligand) is endocytosed","id":2247512},{"id":2395764,"name":"atREs binds to nascent CM"},{"id":2395768,"name":"LPL hydrolyses TGs from mature CMs"},{"name":"Nascent CMs transform into mature CMs","id":2395784},{"id":2404131,"name":"LRPs transport extracellular CR:atREs:HSPG:apoE to cytosol"},{"name":"NREH hydrolyses atREs to atROL and FAs","id":2404140},{"id":2423785,"name":"CR:atREs binds apoE and HSPG"},{"id":2424254,"name":"LDLR transports extracellular CR:atREs to cytosol "},{"id":2429643,"name":"NREH hydrolyses atREs (HSPG:apoE) to atROL and FAs"},{"id":2507854,"name":"MSR1:ligand (SCARA1:ligand, SR-A:ligand) is endocytosed"},{"name":"Defective ABCA1 does not transport CHOL from transport vesicle membrane to plasma membrane","id":5682111},{"name":"HDLBP binds HDL","id":8858252},{"id":8952289,"name":"FAM20C phosphorylates FAM20C substrates"},{"name":"FeHM oxidises LDL,HDL","id":9707586}],"ensembl_gene_stable_id":["ENSG00000118137"],"description":"apolipoprotein A1","geneconstraint":1,"changed_to":null,"start_pos":"116835751","gene_no":335,"discontinued":null,"geneconstraints_missense":0.296,"end_pos":"116837950"},{"genesymbol":"APOA2","type":"protein-coding","geneconstraints_synonymous":0.599,"ensembl_gene_stable_id":["ENSG00000158874"],"geneconstraints_lof":0.348,"clinvar_pathogenic":3,"chromosome":1,"reactome_pathways":[{"id":174587,"name":"<b>nascent chylomicron [endoplasmic reticulum lumen] => nascent chylomicron [extracellular]</b>"},{"id":174660,"name":"nascent chylomicron + spherical HDL:apoC-II:apoC-III:apoE =>spherical  HDL + chylomicron"},{"name":"TG-depleted chylomicron + spherical HDL => chylomicron remnant + spherical HDL:apoA-I:apoA-II:apoA-IV:apoC-II:apoC-III","id":174690},{"name":"ApoB-48:TG:PL complex + 100 triacylglycerols + ApoA-I + ApoA-IV => nascent chylomicron","id":174741},{"name":"chylomicron => TG-depleted chylomicron + 50 long-chain fatty acids + 50 diacylglycerols","id":174757},{"id":1989776,"name":"Expression of APOA2"},{"name":"Cytosolic CMs translocate to extracellular region","id":2187332},{"name":"atREs binds to nascent CM","id":2395764},{"name":"LPL hydrolyses TGs from mature CMs","id":2395768},{"id":2395784,"name":"Nascent CMs transform into mature CMs"},{"id":2404131,"name":"LRPs transport extracellular CR:atREs:HSPG:apoE to cytosol"},{"id":2404140,"name":"NREH hydrolyses atREs to atROL and FAs"},{"name":"CR:atREs binds apoE and HSPG","id":2423785},{"id":2424254,"name":"LDLR transports extracellular CR:atREs to cytosol "},{"name":"NREH hydrolyses atREs (HSPG:apoE) to atROL and FAs","id":2429643},{"id":8952289,"name":"FAM20C phosphorylates FAM20C substrates"}],"start_pos":"161222292","changed_to":null,"gene_no":336,"description":"apolipoprotein A2","geneconstraint":1,"end_pos":"161223628","discontinued":null,"geneconstraints_missense":1.024},{"geneconstraints_missense":-0.352,"discontinued":null,"end_pos":"116823304","geneconstraint":1,"description":"apolipoprotein A4","gene_no":337,"changed_to":null,"start_pos":"116820700","reactome_pathways":[{"name":"<b>nascent chylomicron [endoplasmic reticulum lumen] => nascent chylomicron [extracellular]</b>","id":174587},{"id":174660,"name":"nascent chylomicron + spherical HDL:apoC-II:apoC-III:apoE =>spherical  HDL + chylomicron"},{"name":"TG-depleted chylomicron + spherical HDL => chylomicron remnant + spherical HDL:apoA-I:apoA-II:apoA-IV:apoC-II:apoC-III","id":174690},{"id":174741,"name":"ApoB-48:TG:PL complex + 100 triacylglycerols + ApoA-I + ApoA-IV => nascent chylomicron"},{"name":"chylomicron => TG-depleted chylomicron + 50 long-chain fatty acids + 50 diacylglycerols","id":174757},{"id":976734,"name":"Amyloid fibrils have additional components"},{"id":977136,"name":"Amyloid precursor proteins form ordered fibrils"},{"id":2187332,"name":"Cytosolic CMs translocate to extracellular region"},{"name":"atREs binds to nascent CM","id":2395764},{"id":2395768,"name":"LPL hydrolyses TGs from mature CMs"},{"id":2395784,"name":"Nascent CMs transform into mature CMs"},{"id":2404131,"name":"LRPs transport extracellular CR:atREs:HSPG:apoE to cytosol"},{"id":2404140,"name":"NREH hydrolyses atREs to atROL and FAs"},{"name":"CR:atREs binds apoE and HSPG","id":2423785},{"name":"LDLR transports extracellular CR:atREs to cytosol ","id":2424254},{"name":"NREH hydrolyses atREs (HSPG:apoE) to atROL and FAs","id":2429643},{"name":"APOA4,APOA5,APOC2,CIDEC,FGF21 genes express APOA4,APOA5,APOC2,CIDEC,FGF21 proteins","id":6784622}],"chromosome":11,"geneconstraints_lof":0,"clinvar_pathogenic":1,"ensembl_gene_stable_id":["ENSG00000110244"],"geneconstraints_synonymous":0.061,"type":"protein-coding","genesymbol":"APOA4"},{"geneconstraint":1,"description":"apolipoprotein B","gene_no":338,"start_pos":"21001429","changed_to":null,"geneconstraints_missense":0.938,"discontinued":null,"end_pos":"21044073","geneconstraints_synonymous":0.822,"type":"protein-coding","genesymbol":"APOB","reactome_pathways":[{"name":"LDLR:LDL complex [coated vesicle membrane] => LDLR:LDL complex [endosome membrane]","id":171059},{"name":"LDLR:LDL complex => LDLR + LDL","id":171106},{"name":"LDL + LDLR => LDL:LDLR complex","id":171122},{"name":"LDL:LDLR complex [plasma membrane] => LDL:LDLR complex [clathrin-coated vesicle] (LDLRAP1-independent)","id":171141},{"id":174587,"name":"<b>nascent chylomicron [endoplasmic reticulum lumen] => nascent chylomicron [extracellular]</b>"},{"name":"chylomicron remnant:apoE:LDLR complex => chylomicron remnant:apoE + LDLR","id":174624},{"id":174657,"name":"chylomicron remnant:apoE complex + LDLR => chylomicron remnant:apoE:LDLR complex"},{"name":"nascent chylomicron + spherical HDL:apoC-II:apoC-III:apoE =>spherical  HDL + chylomicron","id":174660},{"name":"TG-depleted chylomicron + spherical HDL => chylomicron remnant + spherical HDL:apoA-I:apoA-II:apoA-IV:apoC-II:apoC-III","id":174690},{"name":"chylomicron remnant:apoE:LDLR complex [plasma membrane] => chylomicron remnant:apoE:LDLR complex [clathrin-coated vesicle] (LDLRAP1-dependent)","id":174706},{"name":"Degradation of newly synthesized ApoB-48","id":174731},{"id":174739,"name":"chylomicron remnant + apoE => chylomicron remnant:apoE complex"},{"name":"ApoB-48:TG:PL complex + 100 triacylglycerols + ApoA-I + ApoA-IV => nascent chylomicron","id":174741},{"id":174757,"name":"chylomicron => TG-depleted chylomicron + 50 long-chain fatty acids + 50 diacylglycerols"},{"name":"ApoB-48 + 40 triacylglycerol + 60 phospholipid => ApoB-48:TG:PL complex","id":174786},{"id":174808,"name":"chylomicron remnant:apoE:LDLR complex [coated vesicle membrane] => chylomicron remnant:apoE:LDLR complex [endosome membrane]"},{"id":176879,"name":"apolipoprotein(a) + LDL => Lp(a)"},{"id":203130,"name":"OLR1 binds to oxidized LDL"},{"id":266350,"name":"CETP-mediated lipid exchange: LDL gains cholesterol ester"},{"id":432121,"name":"LDL binds to LRP8"},{"id":432129,"name":"FGR binds and phosphorylates LRP8"},{"name":"PECAM1 is phosphorylated","id":435244},{"id":2173778,"name":"MSR1 (SCARA1, SR-A) binds ligands"},{"name":"COLEC12 (SCARA4) binds ligands","id":2187261},{"id":2187264,"name":"Platelet glycoprotein IV (CD36) binds ligands"},{"id":2187332,"name":"Cytosolic CMs translocate to extracellular region"},{"name":"SCARF1 (SREC-I) binds ligands","id":2197645},{"id":2197646,"name":"SCARB1 (SR-BI, CLA-1) binds ligands"},{"id":2197770,"name":"STAB1 (FEEL-1) binds ligands"},{"name":"STAB2 (FEEL-2) binds ligands","id":2203479},{"name":"STAB2:ligand is endocytosed","id":2247511},{"id":2247512,"name":"Platelet glycoprotein IV:ligand (CD36:ligand) is endocytosed"},{"id":2247513,"name":"STAB1:ligand is endocytosed"},{"id":2247514,"name":"SCARF1:ligand is endocytosed"},{"id":2395764,"name":"atREs binds to nascent CM"},{"id":2395768,"name":"LPL hydrolyses TGs from mature CMs"},{"id":2395784,"name":"Nascent CMs transform into mature CMs"},{"id":2404131,"name":"LRPs transport extracellular CR:atREs:HSPG:apoE to cytosol"},{"id":2404140,"name":"NREH hydrolyses atREs to atROL and FAs"},{"name":"CR:atREs binds apoE and HSPG","id":2423785},{"name":"LDLR transports extracellular CR:atREs to cytosol ","id":2424254},{"name":"NREH hydrolyses atREs (HSPG:apoE) to atROL and FAs","id":2429643},{"name":"MSR1:ligand (SCARA1:ligand, SR-A:ligand) is endocytosed","id":2507854},{"id":2512800,"name":"SCARB1:ligand is endocytosed"},{"name":"COLEC12:ligand is endocytosed","id":2981040},{"id":8854408,"name":"APOBR dimer binds VLDLs"},{"name":"VLDLR binds VLDL","id":8854462},{"id":8863471,"name":"LDLR is bound by DAB2 and ARH"},{"id":8865667,"name":"LIPA hydrolyses sterol esters to sterols and fatty acids"},{"id":8866304,"name":"pre-VLDL binds lipids to form VLDL"},{"id":8866308,"name":"pre-VLDL translocates from RER membrane to SER lumen"},{"id":8866321,"name":"VLDL binds APOC1 and APOC4"},{"id":8866327,"name":"VLDL translocates from SER lumen to extracellular region"},{"id":8866329,"name":"MTTP lipidates APOB-100, forming a pre-VLDL"},{"name":"F- and N- BAR domain proteins bind the clathrin-coated pit","id":8867754},{"name":"CLASP proteins and cargo are recruited to the nascent clathrin-coated pit","id":8867756},{"name":"Clathrin recruits PIK3C2A","id":8868071},{"name":"Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2","id":8868072},{"name":"SNX9 recruits components of the actin polymerizing machinery","id":8868230},{"name":"BAR domain proteins recruit dynamin","id":8868236},{"id":8868648,"name":"SYNJ hydrolyze PI(4,5)P2 to PI(4)P"},{"name":"Endophilins recruit synaptojanins to the clathrin-coated pit","id":8868651},{"id":8868658,"name":"HSPA8-mediated ATP hydrolysis promotes vesicle uncoating"},{"name":"Clathrin recruits auxilins to the clathrin-coated vesicle","id":8868659},{"id":8868660,"name":"Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle"},{"id":8868661,"name":"Dynamin-mediated GTP hydrolysis promotes vesicle scission"},{"name":"Dissociation of clathrin-associated proteins","id":8869438},{"name":"oxLDL:CD36 binds TLR4:TLR6","id":8869667},{"name":"Dissociation of AAK1 and dephosphorylation of AP-2 mu2","id":8871193},{"id":8871194,"name":"RAB5 and GAPVD1 bind AP-2"},{"id":8876366,"name":"LDL translocates from endosome lumen to lysosome lumen"},{"name":"LSR trimer binds LDL","id":8933258},{"name":"LSR trimer binds VLDL","id":8933292},{"id":8948034,"name":"FGR binds LDL:LRP8"},{"id":8952289,"name":"FAM20C phosphorylates FAM20C substrates"},{"name":"FeHM oxidises LDL,HDL","id":9707586}],"chromosome":2,"geneconstraints_lof":0,"clinvar_pathogenic":193,"ensembl_gene_stable_id":["ENSG00000084674"]},{"type":"protein-coding","geneconstraints_synonymous":1.164,"genesymbol":"SAR1B","clinvar_pathogenic":19,"geneconstraints_lof":0,"chromosome":5,"reactome_pathways":[{"name":"<b>nascent chylomicron [endoplasmic reticulum lumen] => nascent chylomicron [extracellular]</b>","id":174587},{"id":203973,"name":"Vesicle budding"},{"name":"SAR1 Activation And Membrane Binding","id":203977},{"name":"Coat Assembly","id":203979},{"name":"SEC31:SEC13 and v-SNARE recruitment","id":204008},{"id":983422,"name":"Disassembly of COPII coated vesicle"},{"id":983424,"name":"Budding of COPII coated vesicle"},{"name":"Recruitment of Sec31p:Sec13p to prebudding complex and formation of COPII vesicle","id":983425},{"id":983426,"name":"Capturing cargo and formation of prebudding complex"},{"id":1655825,"name":"SREBP1A,1C,2:SCAP binds CopII Coat Complex"},{"name":"SREBP1A,1C,2:SCAP translocates to the Golgi","id":1655834},{"id":2130731,"name":"Formation of COPII vesicle"},{"id":2213243,"name":"Fusion of COPII vesicle with Golgi complex"},{"id":5694417,"name":"SEC16 complex binds SAR1B:GTP:SEC23:SEC24"},{"id":5694522,"name":"Inner coat assembly and cargo binding"},{"name":"Loss of SAR1B GTPase","id":5694527}],"ensembl_gene_stable_id":["ENSG00000152700"],"description":"secretion associated Ras related GTPase 1B","geneconstraint":1,"changed_to":null,"start_pos":"134601149","gene_no":51128,"discontinued":null,"geneconstraints_missense":1.378,"end_pos":"134632828"}]