Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000416101 [[67144147, 67145066], [67145173, 67145229], [67146124, 67146204], [67148183, 67148324], [67148502, 67148622], [67149445, 67149540], [67149611, 67149687], [67149971, 67150150], [67150375, 67150467], [67151159, 67151277], [67151945, 67152066], [67152972, 67153064], [67160214, 67160295], [67161104, 67161224], [67170421, 67170535], [67170747, 67170918], [67171546, 67171654], [67178293, 67178431], [67178815, 67178949], [67181617, 67181784], [67183821, 67184020], [67186498, 67186618], [67187316, 67187456], [67188703, 67188794], [67189250, 67189389], [67189633, 67189753], [67190525, 67190636], [67193204, 67193263], [67197640, 67197809], [67210844, 67210992], [67211955, 67212141], [67212357, 67212499], [67215685, 67215912], [67217932, 67218036], [67218673, 67218838], [67221465, 67221670], [67223285, 67223426], [67224721, 67225001], [67240669, 67240956]] [[67189697, 67189753], [67190525, 67190636], [67193204, 67193263], [67197640, 67197809], [67210844, 67210992], [67211955, 67212141], [67212357, 67212499], [67215685, 67215912], [67217932, 67218036], [67218673, 67218838], [67221465, 67221499]]
ENST00000269081 [[67144147, 67145066], [67145173, 67145229], [67146124, 67146204], [67148183, 67148324], [67148502, 67148622], [67149445, 67149540], [67149611, 67149687], [67149971, 67150150], [67150375, 67150467], [67151159, 67151277], [67151945, 67152066], [67152972, 67153064], [67160214, 67160295], [67161104, 67161224], [67170421, 67170535], [67170747, 67170918], [67171546, 67171654], [67178293, 67178431], [67178815, 67178949], [67181617, 67181784], [67183821, 67184020], [67186498, 67186618], [67187316, 67187456], [67188703, 67188794], [67189250, 67189389], [67189633, 67189753], [67189954, 67190130], [67190525, 67190636], [67193204, 67193263], [67197640, 67197809], [67210844, 67210992], [67211955, 67212141], [67212357, 67212499], [67215685, 67215912], [67217932, 67218036], [67218673, 67218838], [67221465, 67221670], [67223285, 67223426], [67224721, 67225001], [67240669, 67240987]] [[67144967, 67145066], [67145173, 67145229], [67146124, 67146204], [67148183, 67148324], [67148502, 67148622], [67149445, 67149540], [67149611, 67149687], [67149971, 67150150], [67150375, 67150467], [67151159, 67151277], [67151945, 67152066], [67152972, 67153064], [67160214, 67160295], [67161104, 67161224], [67170421, 67170535], [67170747, 67170918], [67171546, 67171654], [67178293, 67178431], [67178815, 67178949], [67181617, 67181784], [67183821, 67184020], [67186498, 67186618], [67187316, 67187456], [67188703, 67188794], [67189250, 67189389], [67189633, 67189753], [67189954, 67190130], [67190525, 67190636], [67193204, 67193263], [67197640, 67197809], [67210844, 67210992], [67211955, 67212141], [67212357, 67212499], [67215685, 67215912], [67217932, 67218036], [67218673, 67218838], [67221465, 67221499]]
ENST00000432313 [[67192499, 67192624], [67193204, 67193263], [67197640, 67197809], [67210844, 67210992], [67211955, 67212141], [67212357, 67212499], [67215685, 67215912], [67217932, 67218036], [67218673, 67218838], [67221465, 67221670], [67223285, 67223426], [67224721, 67225001], [67240669, 67240956]] [[67192499, 67192624], [67193204, 67193263], [67197640, 67197809], [67210844, 67210992], [67211955, 67212141], [67212357, 67212499], [67215685, 67215912], [67217932, 67218036], [67218673, 67218838], [67221465, 67221499]]
ENST00000522787 [[67143354, 67143581], [67145173, 67145229], [67146124, 67146203]] [[67143578, 67143581], [67145173, 67145229], [67146124, 67146203]]
ENST00000521538 [[67143359, 67143754], [67145173, 67145229], [67146124, 67146204]] [[67143661, 67143754], [67145173, 67145229], [67146124, 67146204]]
ENST00000522406 [[67144148, 67145066], [67145173, 67145229], [67146124, 67146204], [67148183, 67148324], [67148502, 67148622], [67149445, 67149540], [67149611, 67149687], [67149971, 67150150], [67150375, 67150467], [67151159, 67151277], [67151945, 67152066], [67152972, 67153064], [67160214, 67160295], [67161104, 67161224], [67170421, 67170535], [67170747, 67170918], [67171546, 67171654], [67175060, 67175149], [67178293, 67178431], [67178815, 67178949], [67181617, 67181784], [67183821, 67184020], [67186498, 67186618], [67187316, 67187456], [67188703, 67188794], [67189250, 67189389], [67189633, 67189753], [67189954, 67190130], [67190525, 67190636], [67192426, 67192624], [67193204, 67193263], [67197640, 67197809], [67210844, 67210992], [67211955, 67212141], [67212357, 67212499], [67215685, 67215912], [67217932, 67218036], [67218673, 67218838], [67221465, 67221670], [67223285, 67223426], [67224721, 67224796]] [[67192499, 67192624], [67193204, 67193263], [67197640, 67197809], [67210844, 67210992], [67211955, 67212141], [67212357, 67212499], [67215685, 67215912], [67217932, 67218036], [67218673, 67218838], [67221465, 67221499]]
ENST00000524231 [[67144320, 67145066], [67145173, 67145229], [67146128, 67146593]] None
ENST00000519732 [[67144639, 67145066], [67145173, 67145229], [67146124, 67146204], [67148183, 67148324], [67148502, 67148622], [67149445, 67149540], [67149611, 67149687], [67149971, 67150150], [67150375, 67150467], [67151159, 67151277], [67151945, 67152066], [67152972, 67153064], [67160214, 67160295], [67161104, 67161224], [67170421, 67170535], [67171546, 67171654], [67171759, 67171922]] None
ENST00000523419 [[67144732, 67145066], [67145173, 67145229], [67146124, 67146204], [67148183, 67148324], [67148502, 67148622], [67149445, 67149540], [67149971, 67150150], [67150375, 67150467], [67151159, 67151277], [67151945, 67152066], [67152972, 67153064], [67160214, 67160295], [67161104, 67161224], [67170421, 67170535], [67170747, 67170918], [67171546, 67171654], [67178293, 67178431], [67178815, 67178949], [67181617, 67181784], [67183821, 67184020], [67186498, 67186618], [67187316, 67187456], [67188703, 67188794], [67189250, 67189389], [67189633, 67189753], [67189954, 67190130], [67190525, 67190636], [67193204, 67193263], [67197640, 67197809], [67210844, 67210992], [67211955, 67212141], [67212357, 67212499], [67215685, 67215912], [67217932, 67218036], [67218673, 67218838], [67221465, 67221583]] [[67149524, 67149540], [67149971, 67150150], [67150375, 67150467], [67151159, 67151277], [67151945, 67152066], [67152972, 67153064], [67160214, 67160295], [67161104, 67161224], [67170421, 67170535], [67170747, 67170918], [67171546, 67171654], [67178293, 67178431], [67178815, 67178949], [67181617, 67181784], [67183821, 67184020], [67186498, 67186618], [67187316, 67187456], [67188703, 67188794], [67189250, 67189389], [67189633, 67189753], [67189954, 67190130], [67190525, 67190636], [67193204, 67193263], [67197640, 67197809], [67210844, 67210992], [67211955, 67212141], [67212357, 67212499], [67215685, 67215912], [67217932, 67218036], [67218673, 67218838], [67221465, 67221499]]
ENST00000518929 [[67144732, 67145066], [67145173, 67145229], [67146124, 67146204], [67148183, 67148324], [67148502, 67148622], [67149445, 67150150], [67150375, 67150467], [67151159, 67151277], [67151945, 67152066], [67152972, 67153064], [67160214, 67160295], [67161104, 67161224], [67170421, 67170535], [67170747, 67170918], [67171546, 67171654], [67178293, 67178431], [67178815, 67178949], [67181617, 67181784], [67183821, 67184020], [67186498, 67186618], [67187316, 67187456], [67188703, 67188794], [67189250, 67189389], [67189633, 67189753], [67189954, 67190130], [67190525, 67190636], [67192386, 67192624], [67193204, 67193263], [67210844, 67210992], [67211955, 67212141], [67212357, 67212499], [67215685, 67215912], [67217932, 67218036], [67218673, 67218838], [67221465, 67221583]] [[67193246, 67193263], [67210844, 67210992], [67211955, 67212141], [67212357, 67212499], [67215685, 67215912], [67217932, 67218036], [67218673, 67218838], [67221465, 67221499]]
ENST00000588514 [[67144885, 67145066], [67145173, 67145464]] None
ENST00000523512 [[67210844, 67210992], [67211955, 67212141], [67212357, 67212499], [67215685, 67215912], [67218673, 67218838], [67221465, 67221670], [67223285, 67223426], [67224721, 67224818]] [[67215832, 67215912], [67218673, 67218838], [67221465, 67221499]]
ENST00000524273 [[67210912, 67210992], [67211590, 67211682], [67215685, 67215912], [67217932, 67218036], [67218673, 67218754]] [[67211681, 67211682], [67215685, 67215912], [67217932, 67218036], [67218673, 67218754]]
ENST00000423818 [[67215832, 67215912], [67218673, 67218838], [67221465, 67221670], [67223285, 67223426], [67224721, 67224818]] [[67215832, 67215912], [67218673, 67218838], [67221465, 67221499]]
ENST00000521526 [[67218818, 67218838], [67219768, 67219850], [67221465, 67221670], [67223285, 67223426], [67224721, 67224841]] None
NM_080282 [[67144147, 67145066], [67145173, 67145229], [67146124, 67146204], [67148183, 67148324], [67148502, 67148622], [67149445, 67149540], [67149611, 67149687], [67149971, 67150150], [67150375, 67150467], [67151159, 67151277], [67151945, 67152066], [67152972, 67153064], [67160214, 67160295], [67161104, 67161224], [67170421, 67170535], [67170747, 67170918], [67171546, 67171654], [67178293, 67178431], [67178815, 67178949], [67181617, 67181784], [67183821, 67184020], [67186498, 67186618], [67187316, 67187456], [67188703, 67188794], [67189250, 67189389], [67189633, 67189753], [67189954, 67190130], [67190525, 67190636], [67193204, 67193263], [67197640, 67197809], [67210844, 67210992], [67211955, 67212141], [67212357, 67212499], [67215685, 67215912], [67217932, 67218036], [67218673, 67218838], [67221465, 67221670], [67223285, 67223426], [67224721, 67225001], [67240669, 67240956]] [[67144967, 67145066], [67145173, 67145229], [67146124, 67146204], [67148183, 67148324], [67148502, 67148622], [67149445, 67149540], [67149611, 67149687], [67149971, 67150150], [67150375, 67150467], [67151159, 67151277], [67151945, 67152066], [67152972, 67153064], [67160214, 67160295], [67161104, 67161224], [67170421, 67170535], [67170747, 67170918], [67171546, 67171654], [67178293, 67178431], [67178815, 67178949], [67181617, 67181784], [67183821, 67184020], [67186498, 67186618], [67187316, 67187456], [67188703, 67188794], [67189250, 67189389], [67189633, 67189753], [67189954, 67190130], [67190525, 67190636], [67193204, 67193263], [67197640, 67197809], [67210844, 67210992], [67211955, 67212141], [67212357, 67212499], [67215685, 67215912], [67217932, 67218036], [67218673, 67218838], [67221465, 67221499]]
Promoter
Chrom Start End Description
chr17 67171837 67171845 CAGE_peak_3_at_ABCA10_5end
chr17 67171909 67171949 CAGE_peak_6_at_ABCA10_5end
chr17 67171957 67171968 CAGE_peak_9_at_ABCA10_5end
chr17 67224798 67224809 CAGE_peak_7_at_ABCA10_5end
chr17 67224812 67224826 CAGE_peak_4_at_ABCA10_5end
chr17 67224835 67224846 CAGE_peak_5_at_ABCA10_5end
chr17 67224876 67224912 CAGE_peak_1_at_ABCA10_5end
chr17 67224950 67224970 CAGE_peak_2_at_ABCA10_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I068287 68287259 68293454 2.61 [{'connected_gene': 'SLC16A6', 'score': 564.05}, {'connected_gene': 'ARSG', 'score': 550.29}, {'connected_gene': 'NOL11', 'score': 26.45}, {'connected_gene': 'AMZ2', 'score': 14.46}, {'connected_gene': 'BPTF', 'score': 12.65}, {'connected_gene': 'ABCA10', 'score': 10.48}, {'connected_gene': 'PRKAR1A', 'score': 3.05}, {'connected_gene': 'GC17P068267', 'score': 0.34}]
chr17 GH17I068508 68508896 68515808 2.65 [{'connected_gene': 'PRKAR1A', 'score': 566.52}, {'connected_gene': 'NOL11', 'score': 81.17}, {'connected_gene': 'BPTF', 'score': 67.83}, {'connected_gene': 'ABCA9', 'score': 12.78}, {'connected_gene': 'ABCA10', 'score': 10.48}, {'connected_gene': 'SNRPGP4', 'score': 10.41}, {'connected_gene': 'ENSG00000267731', 'score': 10.0}, {'connected_gene': 'WIPI1', 'score': 9.08}, {'connected_gene': 'SLC16A6', 'score': 3.33}, {'connected_gene': 'GC17P068532', 'score': 0.34}, {'connected_gene': 'ENSG00000267009', 'score': 0.15}]
chr17 GH17I068454 68454128 68458681 2.55 [{'connected_gene': 'WIPI1', 'score': 562.22}, {'connected_gene': 'NOL11', 'score': 24.92}, {'connected_gene': 'PRKAR1A', 'score': 13.18}, {'connected_gene': 'ABCA10', 'score': 10.28}, {'connected_gene': 'LINC01482', 'score': 4.72}, {'connected_gene': 'SLC16A6', 'score': 2.77}, {'connected_gene': 'MIR635', 'score': 0.29}, {'connected_gene': 'ENSG00000267009', 'score': 0.26}]
chr17 GH17I068473 68473775 68475109 1.38 [{'connected_gene': 'NOL11', 'score': 16.33}, {'connected_gene': 'PRKAR1A', 'score': 15.61}, {'connected_gene': 'BPTF', 'score': 12.8}, {'connected_gene': 'MIR635', 'score': 10.46}, {'connected_gene': 'ABCA10', 'score': 10.01}, {'connected_gene': 'WIPI1', 'score': 0.37}, {'connected_gene': 'GC17P068532', 'score': 0.22}, {'connected_gene': 'ENSG00000267009', 'score': 0.21}]
chr17 GH17I069263 69263355 69263716 0.22 [{'connected_gene': 'ABCA5', 'score': 6.27}, {'connected_gene': 'ABCA10', 'score': 0.37}, {'connected_gene': 'GC17P069284', 'score': 0.34}]
chr17 GH17I069268 69268170 69270180 1.12 [{'connected_gene': 'ABCA5', 'score': 5.79}, {'connected_gene': 'GC17P069284', 'score': 0.37}, {'connected_gene': 'ABCA10', 'score': 0.34}]
chr17 GH17I069103 69103660 69103809 0.89 [{'connected_gene': 'ABCA6', 'score': 11.9}, {'connected_gene': 'ABCA9', 'score': 11.86}, {'connected_gene': 'ABCA10', 'score': 11.74}, {'connected_gene': 'MIR4524A', 'score': 0.77}, {'connected_gene': 'GC17M069120', 'score': 0.31}]
chr17 GH17I069141 69141196 69144004 1.44 [{'connected_gene': 'ABCA6', 'score': 550.77}, {'connected_gene': 'ABCA10', 'score': 9.22}, {'connected_gene': 'ABCA5', 'score': 6.09}, {'connected_gene': 'GC17P069213', 'score': 0.19}]
chr17 GH17I069170 69170480 69170629 0.71 [{'connected_gene': 'ABCA6', 'score': 12.78}, {'connected_gene': 'ABCA10', 'score': 12.66}, {'connected_gene': 'GC17P069213', 'score': 0.26}]
chr17 GH17I069209 69209772 69210010 0.33 [{'connected_gene': 'ABCA8', 'score': 13.02}, {'connected_gene': 'ABCA10', 'score': 12.92}, {'connected_gene': 'ABCA6', 'score': 11.25}, {'connected_gene': 'ABCA5', 'score': 2.27}, {'connected_gene': 'GC17M069207', 'score': 0.77}, {'connected_gene': 'GC17P069213', 'score': 0.77}]
chr17 GH17I068807 68807470 68809543 0.69 [{'connected_gene': 'ABCA8', 'score': 10.52}, {'connected_gene': 'ABCA10', 'score': 4.59}, {'connected_gene': 'ENSG00000267250', 'score': 0.39}, {'connected_gene': 'LOC105371874', 'score': 0.39}]
chr17 GH17I068908 68908098 68911799 1.09 [{'connected_gene': 'ABCA8', 'score': 11.73}, {'connected_gene': 'ABCA10', 'score': 10.24}, {'connected_gene': 'GC17M068868', 'score': 0.31}, {'connected_gene': 'ABCA9-AS1', 'score': 0.29}]
chr17 GH17I069059 69059113 69063562 1.46 [{'connected_gene': 'ABCA9', 'score': 552.22}, {'connected_gene': 'KCNJ16', 'score': 6.06}, {'connected_gene': 'ABCA6', 'score': 5.79}, {'connected_gene': 'ABCA10', 'score': 4.74}, {'connected_gene': 'GC17P069034', 'score': 0.31}]
chr17 GH17I069066 69066201 69067030 0.87 [{'connected_gene': 'ABCA9', 'score': 550.77}, {'connected_gene': 'ABCA6', 'score': 11.22}, {'connected_gene': 'ABCA10', 'score': 11.13}, {'connected_gene': 'GC17P069034', 'score': 0.29}]
chr17 GH17I068771 68771440 68772806 1.06 [{'connected_gene': 'ABCA10', 'score': 12.9}, {'connected_gene': 'ABCA6', 'score': 11.02}, {'connected_gene': 'ABCA8', 'score': 4.97}, {'connected_gene': 'LINC01482', 'score': 4.46}, {'connected_gene': 'GC17P068795', 'score': 0.34}, {'connected_gene': 'LOC105371877', 'score': 0.28}]
chr17 GH17I069115 69115310 69116729 0.77 [{'connected_gene': 'ABCA10', 'score': 18.27}, {'connected_gene': 'ABCA6', 'score': 11.96}, {'connected_gene': 'ABCA9', 'score': 11.45}, {'connected_gene': 'ABCA5', 'score': 6.56}, {'connected_gene': 'MIR4524A', 'score': 0.37}, {'connected_gene': 'GC17M069120', 'score': 0.37}]
chr17 GH17I069070 69070601 69071400 0.6 [{'connected_gene': 'ABCA10', 'score': 20.08}, {'connected_gene': 'ABCA6', 'score': 11.23}, {'connected_gene': 'ABCA9', 'score': 5.88}, {'connected_gene': 'GC17M069097', 'score': 0.34}]
chr17 GH17I069175 69175018 69176786 1.1 [{'connected_gene': 'ABCA10', 'score': 21.45}, {'connected_gene': 'ABCA6', 'score': 11.56}, {'connected_gene': 'GC17P069213', 'score': 0.28}]
chr17 GH17I068782 68782617 68784986 0.51 [{'connected_gene': 'ABCA10', 'score': 15.07}, {'connected_gene': 'BPTF', 'score': 11.64}, {'connected_gene': 'ABCA8', 'score': 11.05}, {'connected_gene': 'GC17P068795', 'score': 0.39}, {'connected_gene': 'LOC105371877', 'score': 0.23}]
chr17 GH17I068773 68773900 68778942 1.41 [{'connected_gene': 'ABCA10', 'score': 16.93}, {'connected_gene': 'ABCA8', 'score': 16.72}, {'connected_gene': 'BPTF', 'score': 13.66}, {'connected_gene': 'ABCA9', 'score': 12.81}, {'connected_gene': 'ABCA6', 'score': 11.02}, {'connected_gene': 'WIPI1', 'score': 9.35}, {'connected_gene': 'LINC01482', 'score': 4.61}, {'connected_gene': 'GC17P068795', 'score': 0.37}, {'connected_gene': 'LOC105371877', 'score': 0.26}]
chr17 GH17I068790 68790131 68796590 1.36 [{'connected_gene': 'ABCA10', 'score': 16.36}, {'connected_gene': 'ABCA8', 'score': 15.98}, {'connected_gene': 'ABCA9', 'score': 9.76}, {'connected_gene': 'ENSG00000267250', 'score': 0.77}, {'connected_gene': 'GC17P068795', 'score': 0.77}, {'connected_gene': 'LOC105371877', 'score': 0.22}]
chr17 GH17I069013 69013147 69014079 1.09 [{'connected_gene': 'ABCA10', 'score': 4.29}, {'connected_gene': 'GC17M068986', 'score': 0.34}, {'connected_gene': 'GC17P069034', 'score': 0.34}, {'connected_gene': 'ABCA9', 'score': 0.23}, {'connected_gene': 'ABCA9-AS1', 'score': 0.2}]
chr17 GH17I069227 69227601 69228843 1.08 [{'connected_gene': 'ABCA10', 'score': 550.37}, {'connected_gene': 'PRO1804', 'score': 0.44}, {'connected_gene': 'GC17M069207', 'score': 0.39}]
chr17 GH17I069099 69099649 69099753 0.36 [{'connected_gene': 'MIR4524B', 'score': 550.77}, {'connected_gene': 'MIR4524A', 'score': 550.77}, {'connected_gene': 'ABCA6', 'score': 11.89}, {'connected_gene': 'ABCA9', 'score': 11.88}, {'connected_gene': 'ABCA10', 'score': 11.74}, {'connected_gene': 'GC17M069120', 'score': 0.29}]
chr17 GH17I069235 69235201 69236209 1.14 [{'connected_gene': 'PRO1804', 'score': 550.77}, {'connected_gene': 'ABCA9', 'score': 12.85}, {'connected_gene': 'ABCA10', 'score': 0.44}]
chr17 GH17I069092 69092252 69095353 1.41 [{'connected_gene': 'GC17M069097', 'score': 550.77}, {'connected_gene': 'ABCA6', 'score': 14.07}, {'connected_gene': 'ABCA9', 'score': 11.89}, {'connected_gene': 'ABCA10', 'score': 11.73}, {'connected_gene': 'SEC24AP1', 'score': 0.77}]
chr17 GH17I069223 69223940 69224069 0.69 [{'connected_gene': 'GC17M069207', 'score': 0.44}, {'connected_gene': 'PRO1804', 'score': 0.39}, {'connected_gene': 'ABCA10', 'score': 0.34}]

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