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
ENST00000280551 [[119643977, 119644810], [119649715, 119649805], [119652470, 119652662], [119653887, 119654067], [119659415, 119659534], [119660303, 119660442], [119661817, 119661963], [119662095, 119662192], [119665142, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119678875, 119679000], [119685956, 119686072], [119689327, 119689466], [119718837, 119718965], [119726997, 119727109], [119736182, 119736310], [119736605, 119736881], [119738418, 119738567], [119745774, 119745904], [119754733, 119754892], [119757095, 119757293]] [[119644669, 119644810], [119649715, 119649805], [119652470, 119652662], [119653887, 119654067], [119659415, 119659534], [119660303, 119660442], [119661817, 119661963], [119662095, 119662192], [119665142, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119678875, 119679000], [119685956, 119686072], [119689327, 119689466], [119718837, 119718965], [119726997, 119727109], [119736182, 119736310], [119736605, 119736881], [119738418, 119738567], [119745774, 119745904], [119754733, 119754851]]
ENST00000379735 [[119643978, 119644810], [119649715, 119649805], [119652470, 119652662], [119653887, 119654067], [119659415, 119659534], [119660303, 119660442], [119661817, 119661963], [119662095, 119662192], [119665142, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119678875, 119679000], [119685956, 119686072], [119689327, 119689466], [119718837, 119718965], [119726997, 119727109], [119736182, 119736313], [119736605, 119736881], [119738418, 119738567], [119745774, 119745904], [119754733, 119754892], [119757095, 119757326]] [[119644669, 119644810], [119649715, 119649805], [119652470, 119652662], [119653887, 119654067], [119659415, 119659534], [119660303, 119660442], [119661817, 119661963], [119662095, 119662192], [119665142, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119678875, 119679000], [119685956, 119686072], [119689327, 119689466], [119718837, 119718965], [119726997, 119727109], [119736182, 119736313], [119736605, 119736881], [119738418, 119738567], [119745774, 119745904], [119754733, 119754851]]
ENST00000429811 [[119643984, 119644810], [119649715, 119649805], [119652470, 119652662], [119653887, 119654067], [119656881, 119657724], [119659415, 119659534], [119660303, 119660442], [119661817, 119661963], [119662095, 119662192], [119665142, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119678875, 119679000], [119679566, 119679797]] [[119657706, 119657724], [119659415, 119659534], [119660303, 119660442], [119661817, 119661963], [119662095, 119662192], [119665142, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119678875, 119678964]]
ENST00000505134 [[119643984, 119644810], [119649715, 119649805], [119652470, 119652662], [119653887, 119654067], [119656881, 119657724], [119659415, 119659534], [119660303, 119660442], [119661817, 119661963], [119662095, 119662192], [119665142, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119678875, 119679000], [119679566, 119679782], [119681545, 119681762], [119685956, 119686072], [119687683, 119687718]] None
ENST00000511481 [[119644178, 119644810], [119649715, 119649805], [119652470, 119652662], [119653887, 119654067], [119659415, 119659534], [119660303, 119660442], [119661817, 119661963], [119662095, 119662192], [119665142, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119678875, 119679000], [119685956, 119686072], [119689327, 119689466], [119690918, 119690995]] [[119644669, 119644810], [119649715, 119649805], [119652470, 119652662], [119653887, 119654067], [119659415, 119659534], [119660303, 119660442], [119661817, 119661963], [119662095, 119662192], [119665142, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119678875, 119679000], [119685956, 119686072], [119689327, 119689400]]
ENST00000514561 [[119657183, 119657724], [119659415, 119659534], [119660303, 119660442], [119661817, 119661963], [119662095, 119662192], [119665142, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119678875, 119679000], [119679566, 119679782], [119681545, 119681762], [119685956, 119686072], [119689327, 119689466], [119718837, 119718965], [119726997, 119727109], [119736182, 119736310], [119736605, 119736881], [119738418, 119738567], [119745774, 119745904], [119746595, 119746773], [119754733, 119754892], [119759708, 119759825]] [[119746687, 119746773], [119754733, 119754851]]
ENST00000419654 [[119657199, 119657724], [119659415, 119659534], [119660303, 119660442], [119661817, 119661963], [119662095, 119662192], [119665142, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119678875, 119679000], [119679566, 119679782], [119681545, 119681762], [119685956, 119686072], [119689327, 119689466], [119718837, 119718965], [119726997, 119727109], [119736182, 119736310], [119736605, 119736881], [119738418, 119738567], [119745774, 119745904], [119746595, 119746773], [119754733, 119754892], [119759708, 119759825]] [[119657706, 119657724], [119659415, 119659534], [119660303, 119660442], [119661817, 119661963], [119662095, 119662192], [119665142, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119678875, 119678964]]
ENST00000511033 [[119665228, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119675187, 119675275]] None
ENST00000502830 [[119644675, 119644810], [119649715, 119650002]] None
ENST00000511715 [[119650276, 119652662], [119653887, 119654470]] None
ENST00000502526 [[119659258, 119659534], [119660303, 119660378]] None
ENST00000509818 [[119673900, 119674043], [119678875, 119679000], [119685956, 119686072], [119687683, 119687978], [119689327, 119689466], [119718837, 119718965], [119726997, 119727109], [119736182, 119736310], [119736605, 119736881], [119745774, 119745904], [119754733, 119754892], [119759708, 119759827]] [[119736198, 119736310], [119736605, 119736881], [119745774, 119745904], [119754733, 119754851]]
ENST00000514418 [[119685567, 119686072], [119689327, 119689402]] None
ENST00000506622 [[119718837, 119718965], [119726997, 119727109], [119736182, 119736310], [119736605, 119736881], [119737898, 119738005], [119738418, 119738567], [119745774, 119745904], [119754733, 119754892], [119759708, 119759838]] [[119727099, 119727109], [119736182, 119736310], [119736605, 119736881], [119737898, 119738005], [119738418, 119738567], [119745774, 119745904], [119754733, 119754851]]
ENST00000503683 [[119736781, 119736881], [119738418, 119738567], [119745774, 119745904], [119754733, 119754892], [119757705, 119757769]] [[119736781, 119736881], [119738418, 119738567], [119745774, 119745904], [119754733, 119754851]]
ENST00000505280 [[119754431, 119754892], [119759708, 119759808]] None
NM_001318066 [[119643977, 119644810], [119649715, 119649805], [119652470, 119652662], [119653887, 119654067], [119659415, 119659534], [119660303, 119660442], [119661817, 119661963], [119662095, 119662192], [119665142, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119678875, 119679000], [119685956, 119686072], [119689327, 119689466], [119718837, 119718965], [119726997, 119727109], [119736182, 119736313], [119736605, 119736881], [119738418, 119738567], [119745774, 119745904], [119754733, 119754892], [119757095, 119757351]] [[119644669, 119644810], [119649715, 119649805], [119652470, 119652662], [119653887, 119654067], [119659415, 119659534], [119660303, 119660442], [119661817, 119661963], [119662095, 119662192], [119665142, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119678875, 119679000], [119685956, 119686072], [119689327, 119689466], [119718837, 119718965], [119726997, 119727109], [119736182, 119736313], [119736605, 119736881], [119738418, 119738567], [119745774, 119745904], [119754733, 119754851]]
NM_014822 [[119643977, 119644810], [119649715, 119649805], [119652470, 119652662], [119653887, 119654067], [119659415, 119659534], [119660303, 119660442], [119661817, 119661963], [119662095, 119662192], [119665142, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119678875, 119679000], [119685956, 119686072], [119689327, 119689466], [119718837, 119718965], [119726997, 119727109], [119736182, 119736310], [119736605, 119736881], [119738418, 119738567], [119745774, 119745904], [119754733, 119754892], [119757095, 119757351]] [[119644669, 119644810], [119649715, 119649805], [119652470, 119652662], [119653887, 119654067], [119659415, 119659534], [119660303, 119660442], [119661817, 119661963], [119662095, 119662192], [119665142, 119665313], [119666098, 119666215], [119673150, 119673244], [119673851, 119674043], [119678875, 119679000], [119685956, 119686072], [119689327, 119689466], [119718837, 119718965], [119726997, 119727109], [119736182, 119736310], [119736605, 119736881], [119738418, 119738567], [119745774, 119745904], [119754733, 119754851]]
Promoter
Chrom Start End Description
chr4 119757222 119757238 CAGE_peak_2_at_SEC24D_5end
chr4 119757239 119757305 CAGE_peak_1_at_SEC24D_5end
chr4 119757322 119757334 CAGE_peak_3_at_SEC24D_5end
chr4 119757345 119757356 CAGE_peak_4_at_SEC24D_5end
chr4 119759795 119759833 CAGE_peak_8_at_SEC24D_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I118768 118768741 118771250 0.43 [{'connected_gene': 'SEC24D', 'score': 11.58}, {'connected_gene': 'METTL14', 'score': 8.8}, {'connected_gene': 'LOC729218', 'score': 4.43}, {'connected_gene': 'GC04P118810', 'score': 0.44}]
chr4 GH04I118796 118796078 118800229 0.52 [{'connected_gene': 'SEC24D', 'score': 11.67}, {'connected_gene': 'METTL14', 'score': 7.08}, {'connected_gene': 'LOC729218', 'score': 4.58}, {'connected_gene': 'GC04P118810', 'score': 0.37}]
chr4 GH04I118765 118765379 118766057 1.12 [{'connected_gene': 'SEC24D', 'score': 10.91}, {'connected_gene': 'METTL14', 'score': 8.79}, {'connected_gene': 'CEP170P1', 'score': 8.4}, {'connected_gene': 'GC04P118810', 'score': 0.39}]
chr4 GH04I118893 118893224 118893861 0.2 [{'connected_gene': 'SEC24D', 'score': 10.72}, {'connected_gene': 'METTL14', 'score': 5.02}, {'connected_gene': 'LOC105377393', 'score': 0.39}, {'connected_gene': 'GC04M118904', 'score': 0.28}, {'connected_gene': 'SYNPO2', 'score': 0.26}]
chr4 GH04I118809 118809791 118813532 0.79 [{'connected_gene': 'SEC24D', 'score': 11.17}, {'connected_gene': 'METTL14', 'score': 5.74}, {'connected_gene': 'SNHG8', 'score': 4.92}, {'connected_gene': 'GC04P118810', 'score': 0.29}]
chr4 GH04I118833 118833422 118837380 2.22 [{'connected_gene': 'SEC24D', 'score': 550.77}, {'connected_gene': 'METTL14', 'score': 6.31}, {'connected_gene': 'SNHG8', 'score': 4.88}, {'connected_gene': 'GC04P118810', 'score': 0.22}]
chr4 GH04I118772 118772186 118772315 0.74 [{'connected_gene': 'SEC24D', 'score': 11.58}, {'connected_gene': 'GC04P118810', 'score': 0.44}, {'connected_gene': 'METTL14', 'score': 0.17}]
chr4 GH04I118773 118772601 118773599 0.58 [{'connected_gene': 'SEC24D', 'score': 11.58}, {'connected_gene': 'GC04P118810', 'score': 0.44}, {'connected_gene': 'METTL14', 'score': 0.17}]
chr4 GH04I118785 118785534 118787017 0.2 [{'connected_gene': 'SEC24D', 'score': 11.01}, {'connected_gene': 'METTL14', 'score': 5.68}, {'connected_gene': 'GC04P118810', 'score': 0.44}]
chr4 GH04I118801 118801407 118803039 0.49 [{'connected_gene': 'SEC24D', 'score': 11.73}, {'connected_gene': 'METTL14', 'score': 6.09}, {'connected_gene': 'GC04P118810', 'score': 0.34}]
chr4 GH04I118766 118766863 118767387 0.89 [{'connected_gene': 'SEC24D', 'score': 10.91}, {'connected_gene': 'GC04P118810', 'score': 0.39}, {'connected_gene': 'METTL14', 'score': 0.18}]
chr4 GH04I118896 118895085 118895847 0.31 [{'connected_gene': 'SEC24D', 'score': 10.71}, {'connected_gene': 'LOC105377393', 'score': 0.37}, {'connected_gene': 'GC04M118904', 'score': 0.28}, {'connected_gene': 'SYNPO2', 'score': 0.26}]
chr4 GH04I118894 118894100 118894724 0.2 [{'connected_gene': 'SEC24D', 'score': 10.71}, {'connected_gene': 'LOC105377393', 'score': 0.37}, {'connected_gene': 'GC04M118904', 'score': 0.28}, {'connected_gene': 'SYNPO2', 'score': 0.26}]
chr4 GH04I118917 118917870 118919400 0.92 [{'connected_gene': 'SEC24D', 'score': 11.28}, {'connected_gene': 'GC04M118904', 'score': 0.39}, {'connected_gene': 'LOC105377393', 'score': 0.28}, {'connected_gene': 'SYNPO2', 'score': 0.2}]
chr4 GH04I118895 118894736 118895067 0.53 [{'connected_gene': 'SEC24D', 'score': 10.71}, {'connected_gene': 'LOC105377393', 'score': 0.37}, {'connected_gene': 'GC04M118904', 'score': 0.28}, {'connected_gene': 'SYNPO2', 'score': 0.26}]
chr4 GH04I118823 118823546 118823695 0.77 [{'connected_gene': 'SEC24D', 'score': 0.37}, {'connected_gene': 'GC04P118810', 'score': 0.26}]
chr4 GH04I118950 118950235 118952265 0.31 [{'connected_gene': 'LOC729218', 'score': 16.85}, {'connected_gene': 'CICP16', 'score': 14.12}, {'connected_gene': 'METTL14', 'score': 13.82}, {'connected_gene': 'SEC24D', 'score': 10.96}, {'connected_gene': 'GC04M118904', 'score': 0.37}, {'connected_gene': 'LOC105377394', 'score': 0.29}, {'connected_gene': 'SYNPO2', 'score': 0.15}]
chr4 GH04I118825 118825344 118828296 0.76 [{'connected_gene': 'METTL14', 'score': 6.79}, {'connected_gene': 'SEC24D', 'score': 0.39}, {'connected_gene': 'GC04P118810', 'score': 0.25}]
chr4 GH04I118731 118731352 118733287 0.72 [{'connected_gene': 'METTL14', 'score': 9.88}, {'connected_gene': 'GC04P118810', 'score': 0.25}, {'connected_gene': 'SEC24D', 'score': 0.14}]
chr4 GH04I118816 118816055 118817929 0.57 [{'connected_gene': 'METTL14', 'score': 5.72}, {'connected_gene': 'LOC729218', 'score': 4.43}, {'connected_gene': 'SEC24D', 'score': 0.34}, {'connected_gene': 'GC04P118810', 'score': 0.28}]
chr4 GH04I118774 118774380 118775915 0.96 [{'connected_gene': 'METTL14', 'score': 10.1}, {'connected_gene': 'LOC729218', 'score': 5.22}, {'connected_gene': 'GC04P118810', 'score': 0.77}, {'connected_gene': 'SEC24D', 'score': 0.21}]
chr4 GH04I118737 118737975 118746279 0.49 [{'connected_gene': 'METTL14', 'score': 9.81}, {'connected_gene': 'LOC729218', 'score': 5.31}, {'connected_gene': 'CEP170P1', 'score': 5.25}, {'connected_gene': 'GC04P118810', 'score': 0.28}, {'connected_gene': 'SEC24D', 'score': 0.15}]
chr4 GH04I118783 118783167 118785278 0.38 [{'connected_gene': 'METTL14', 'score': 8.77}, {'connected_gene': 'CEP170P1', 'score': 7.68}, {'connected_gene': 'GC04P118810', 'score': 0.44}, {'connected_gene': 'SEC24D', 'score': 0.23}]
chr4 GH04I118734 118734347 118735771 0.31 [{'connected_gene': 'METTL14', 'score': 9.86}, {'connected_gene': 'CEP170P1', 'score': 6.07}, {'connected_gene': 'SNHG8', 'score': 5.26}, {'connected_gene': 'GC04P118810', 'score': 0.26}, {'connected_gene': 'SEC24D', 'score': 0.15}]
chr4 GH04I118841 118841542 118842825 0.66 [{'connected_gene': 'METTL14', 'score': 6.03}, {'connected_gene': 'SNHG8', 'score': 4.81}, {'connected_gene': 'SEC24D', 'score': 0.77}, {'connected_gene': 'SYNPO2', 'score': 0.44}]
chr4 GH04I118814 118814803 118816032 0.31 [{'connected_gene': 'METTL14', 'score': 5.72}, {'connected_gene': 'SNHG8', 'score': 4.91}, {'connected_gene': 'SEC24D', 'score': 0.34}, {'connected_gene': 'GC04P118810', 'score': 0.28}]
chr4 GH04I118729 118729350 118730655 0.66 [{'connected_gene': 'METTL14', 'score': 9.91}, {'connected_gene': 'SNHG8', 'score': 4.9}, {'connected_gene': 'GC04P118810', 'score': 0.25}, {'connected_gene': 'SEC24D', 'score': 0.14}]
chr4 GH04I118751 118751389 118753435 0.4 [{'connected_gene': 'METTL14', 'score': 8.04}, {'connected_gene': 'SNHG8', 'score': 5.29}, {'connected_gene': 'GC04P118810', 'score': 0.31}, {'connected_gene': 'SEC24D', 'score': 0.17}]
chr4 GH04I118821 118821132 118823492 0.85 [{'connected_gene': 'METTL14', 'score': 5.73}, {'connected_gene': 'SNHG8', 'score': 5.61}, {'connected_gene': 'SEC24D', 'score': 0.37}, {'connected_gene': 'GC04P118810', 'score': 0.26}]
chr4 GH04I118888 118888401 118891200 2.11 [{'connected_gene': 'SYNPO2', 'score': 550.28}, {'connected_gene': 'METTL14', 'score': 14.35}, {'connected_gene': 'SEC24D', 'score': 11.65}, {'connected_gene': 'SNHG8', 'score': 11.53}, {'connected_gene': 'LOC105377393', 'score': 0.39}, {'connected_gene': 'GC04M118904', 'score': 0.26}]
chr4 GH04I118849 118849442 118851400 1.79 [{'connected_gene': 'SYNPO2', 'score': 550.77}, {'connected_gene': 'METTL14', 'score': 6.12}, {'connected_gene': 'SEC24D', 'score': 0.39}]
chr4 GH04I118275 118275634 118283367 1.78 [{'connected_gene': 'SNHG8', 'score': 607.21}, {'connected_gene': 'SNORA24', 'score': 550.77}, {'connected_gene': 'METTL14', 'score': 30.52}, {'connected_gene': 'CICP16', 'score': 23.23}, {'connected_gene': 'LOC729218', 'score': 20.93}, {'connected_gene': 'SEC24D', 'score': 9.9}, {'connected_gene': 'FKBP4P1', 'score': 4.91}, {'connected_gene': 'PRSS12', 'score': 0.19}]
chr4 GH04I118725 118725107 118726166 0.2 [{'connected_gene': 'SNHG8', 'score': 5.44}, {'connected_gene': 'METTL14', 'score': 0.26}, {'connected_gene': 'GC04P118810', 'score': 0.23}, {'connected_gene': 'SEC24D', 'score': 0.14}]
chr4 GH04I118776 118776201 118776400 0.4 [{'connected_gene': 'GC04P118810', 'score': 0.77}, {'connected_gene': 'SEC24D', 'score': 0.21}, {'connected_gene': 'METTL14', 'score': 0.16}]
chr4 GH04I118758 118757926 118758075 0.88 [{'connected_gene': 'GC04P118810', 'score': 0.34}, {'connected_gene': 'METTL14', 'score': 0.19}, {'connected_gene': 'SEC24D', 'score': 0.18}]
chr4 GH04I118757 118757201 118757400 0.4 [{'connected_gene': 'GC04P118810', 'score': 0.34}, {'connected_gene': 'METTL14', 'score': 0.19}, {'connected_gene': 'SEC24D', 'score': 0.18}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.