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
ENST00000307102 [[66679154, 66679765], [66727364, 66727575], [66729083, 66729230], [66735617, 66735695], [66736993, 66737045], [66774092, 66774217], [66777327, 66777529], [66779565, 66779630], [66781552, 66781614], [66782055, 66782101], [66782839, 66784650]] [[66679685, 66679765], [66727364, 66727575], [66729083, 66729230], [66735617, 66735695], [66736993, 66737045], [66774092, 66774217], [66777327, 66777529], [66779565, 66779630], [66781552, 66781614], [66782055, 66782101], [66782839, 66782953]]
ENST00000425818 [[66679174, 66679765], [66727364, 66727575], [66729083, 66729230], [66735617, 66735695], [66736993, 66737304]] None
ENST00000566326 [[66745791, 66745881], [66774092, 66774217], [66777327, 66777529], [66779565, 66779630], [66781552, 66781614], [66782055, 66782101], [66782839, 66783681]] [[66745841, 66745881], [66774092, 66774217], [66777327, 66777529], [66779565, 66779630], [66781552, 66781614], [66782055, 66782101], [66782839, 66782953]]
NM_002755 [[66679210, 66679765], [66727364, 66727575], [66729083, 66729230], [66735617, 66735695], [66736993, 66737045], [66774092, 66774217], [66777327, 66777529], [66779565, 66779630], [66781552, 66781614], [66782055, 66782101], [66782839, 66783882]] [[66679685, 66679765], [66727364, 66727575], [66729083, 66729230], [66735617, 66735695], [66736993, 66737045], [66774092, 66774217], [66777327, 66777529], [66779565, 66779630], [66781552, 66781614], [66782055, 66782101], [66782839, 66782953]]
Promoter
Chrom Start End Description
chr15 66679240 66679258 CAGE_peak_1_at_MAP2K1_5end
chr15 66679260 66679283 CAGE_peak_2_at_MAP2K1_5end
chr15 66679650 66679674 CAGE_peak_4_at_MAP2K1_5end
chr15 66694212 66694237 CAGE_peak_3_at_MAP2K1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I066141 66141323 66141493 0.5 [{'connected_gene': 'SLC24A1', 'score': 14.93}, {'connected_gene': 'INTS14', 'score': 13.69}, {'connected_gene': 'ENSG00000260773', 'score': 11.79}, {'connected_gene': 'MEGF11', 'score': 10.73}, {'connected_gene': 'DENND4A', 'score': 2.51}, {'connected_gene': 'MAP2K1', 'score': 2.43}, {'connected_gene': 'GC15P068669', 'score': 0.77}, {'connected_gene': 'GC15M066111', 'score': 0.39}]
chr15 GH15I065963 65963179 65965213 0.56 [{'connected_gene': 'MEGF11', 'score': 10.57}, {'connected_gene': 'MAP2K1', 'score': 9.34}, {'connected_gene': 'HACD3', 'score': 4.91}, {'connected_gene': 'HNRNPA1P44', 'score': 4.5}, {'connected_gene': 'LOC105370867', 'score': 0.22}, {'connected_gene': 'GC15P069445', 'score': 0.19}]
chr15 GH15I066459 66459312 66463408 1.02 [{'connected_gene': 'INTS14', 'score': 78.58}, {'connected_gene': 'ENSG00000260773', 'score': 66.85}, {'connected_gene': 'TIPIN', 'score': 58.09}, {'connected_gene': 'SNORD16', 'score': 39.67}, {'connected_gene': 'RPL35AP32', 'score': 26.78}, {'connected_gene': 'SNAPC5', 'score': 26.63}, {'connected_gene': 'SLC24A1', 'score': 26.05}, {'connected_gene': 'ZWILCH', 'score': 23.92}, {'connected_gene': 'DENND4A', 'score': 19.16}, {'connected_gene': 'DIS3L', 'score': 11.55}, {'connected_gene': 'LOC646358', 'score': 11.49}, {'connected_gene': 'HACD3', 'score': 10.36}, {'connected_gene': 'RPL4', 'score': 10.27}, {'connected_gene': 'LOC105370868', 'score': 5.75}, {'connected_gene': 'GC15M066489', 'score': 0.31}, {'connected_gene': 'MAP2K1', 'score': 0.19}]
chr15 GH15I066452 66452503 66454000 1.01 [{'connected_gene': 'MAP2K1', 'score': 11.16}, {'connected_gene': 'SNORD18B', 'score': 10.44}, {'connected_gene': 'SNORD16', 'score': 10.44}, {'connected_gene': 'SNORD18C', 'score': 10.44}, {'connected_gene': 'SNORD18A', 'score': 10.43}, {'connected_gene': 'ZWILCH', 'score': 10.43}, {'connected_gene': 'TIPIN', 'score': 9.5}, {'connected_gene': 'ENSG00000261351', 'score': 7.44}, {'connected_gene': 'LOC105370868', 'score': 5.7}, {'connected_gene': 'RPL35AP32', 'score': 0.44}, {'connected_gene': 'GC15M066489', 'score': 0.28}]
chr15 GH15I066385 66385811 66392346 2.51 [{'connected_gene': 'MAP2K1', 'score': 550.77}, {'connected_gene': 'TIPIN', 'score': 53.85}, {'connected_gene': 'SNAPC5', 'score': 25.25}, {'connected_gene': 'ZWILCH', 'score': 19.92}, {'connected_gene': 'INTS14', 'score': 15.15}, {'connected_gene': 'SLC24A1', 'score': 14.03}, {'connected_gene': 'RPL35AP32', 'score': 12.26}, {'connected_gene': 'ENSG00000260773', 'score': 11.06}, {'connected_gene': 'SNORD16', 'score': 10.06}, {'connected_gene': 'DIS3L', 'score': 9.69}, {'connected_gene': 'LOC105370868', 'score': 7.56}, {'connected_gene': 'ENSG00000261351', 'score': 6.84}, {'connected_gene': 'GC15M066384', 'score': 0.77}, {'connected_gene': 'GC15M066416', 'score': 0.31}]
chr15 GH15I066616 66616602 66623532 1.64 [{'connected_gene': 'MAP2K1', 'score': 6.73}, {'connected_gene': 'SMAD3', 'score': 2.85}, {'connected_gene': 'SMAD6', 'score': 2.62}, {'connected_gene': 'LINC01169', 'score': 0.28}, {'connected_gene': 'GC15P069498', 'score': 0.19}]
chr15 GH15I066820 66820418 66821780 0.63 [{'connected_gene': 'MAP2K1', 'score': 4.93}, {'connected_gene': 'LETM1P1', 'score': 0.39}, {'connected_gene': 'LOC105370869', 'score': 0.34}]
chr15 GH15I066800 66800183 66805701 1.78 [{'connected_gene': 'MAP2K1', 'score': 5.8}, {'connected_gene': 'LETM1P1', 'score': 0.44}, {'connected_gene': 'GC15M066763', 'score': 0.31}]
chr15 GH15I066853 66853363 66853796 0.99 [{'connected_gene': 'MAP2K1', 'score': 5.42}, {'connected_gene': 'LOC105376718', 'score': 0.77}, {'connected_gene': 'LOC105370869', 'score': 0.39}]
chr15 GH15I066369 66369275 66371046 1.41 [{'connected_gene': 'MAP2K1', 'score': 8.0}, {'connected_gene': 'LOC105370868', 'score': 5.74}, {'connected_gene': 'TIPIN', 'score': 4.75}, {'connected_gene': 'RPL9P25', 'score': 0.44}, {'connected_gene': 'ENSG00000223271', 'score': 0.34}]
chr15 GH15I066483 66483021 66483523 0.67 [{'connected_gene': 'ZWILCH', 'score': 11.44}, {'connected_gene': 'SNORD18A', 'score': 11.44}, {'connected_gene': 'RPL4', 'score': 11.36}, {'connected_gene': 'MAP2K1', 'score': 10.84}, {'connected_gene': 'DIS3L', 'score': 9.55}, {'connected_gene': 'GC15M066489', 'score': 0.44}, {'connected_gene': 'RPL35AP32', 'score': 0.28}]
chr15 GH15I066429 66429263 66429412 0.69 [{'connected_gene': 'TIPIN', 'score': 40.83}, {'connected_gene': 'GC15M066420', 'score': 0.77}, {'connected_gene': 'PIR45084', 'score': 0.44}, {'connected_gene': 'MAP2K1', 'score': 0.26}]
chr15 GH15I066434 66434207 66434517 0.22 [{'connected_gene': 'TIPIN', 'score': 40.82}, {'connected_gene': 'PIR45084', 'score': 0.77}, {'connected_gene': 'GC15M066420', 'score': 0.44}, {'connected_gene': 'MAP2K1', 'score': 0.25}]
chr15 GH15I066400 66400201 66407121 1.2 [{'connected_gene': 'TIPIN', 'score': 42.4}, {'connected_gene': 'DIS3L', 'score': 18.86}, {'connected_gene': 'SNAPC5', 'score': 18.68}, {'connected_gene': 'RPL4', 'score': 15.75}, {'connected_gene': 'SNORD18B', 'score': 10.48}, {'connected_gene': 'SNORD16', 'score': 10.48}, {'connected_gene': 'SNORD18A', 'score': 10.48}, {'connected_gene': 'SNORD18C', 'score': 10.48}, {'connected_gene': 'ZWILCH', 'score': 10.47}, {'connected_gene': 'GC15M066416', 'score': 0.39}, {'connected_gene': 'MAP2K1', 'score': 0.37}]
chr15 GH15I066410 66410580 66412200 0.83 [{'connected_gene': 'TIPIN', 'score': 40.89}, {'connected_gene': 'SNAPC5', 'score': 35.52}, {'connected_gene': 'MAP2K1', 'score': 12.54}, {'connected_gene': 'SNORD18C', 'score': 10.9}, {'connected_gene': 'SNORD18B', 'score': 10.89}, {'connected_gene': 'SNORD16', 'score': 10.89}, {'connected_gene': 'SNORD18A', 'score': 10.89}, {'connected_gene': 'ZWILCH', 'score': 10.89}, {'connected_gene': 'RPL4', 'score': 10.46}, {'connected_gene': 'DIS3L', 'score': 9.88}, {'connected_gene': 'GC15M066416', 'score': 0.77}]
chr15 GH15I066421 66421494 66423536 0.43 [{'connected_gene': 'TIPIN', 'score': 40.85}, {'connected_gene': 'SNAPC5', 'score': 36.27}, {'connected_gene': 'MAP2K1', 'score': 11.37}, {'connected_gene': 'LOC105370868', 'score': 5.68}, {'connected_gene': 'DIS3L', 'score': 5.38}, {'connected_gene': 'GC15M066420', 'score': 0.77}, {'connected_gene': 'ATP5MFP6', 'score': 0.44}]
chr15 GH15I066416 66416791 66418677 0.6 [{'connected_gene': 'TIPIN', 'score': 40.86}, {'connected_gene': 'SNAPC5', 'score': 35.4}, {'connected_gene': 'DIS3L', 'score': 18.22}, {'connected_gene': 'MAP2K1', 'score': 11.89}, {'connected_gene': 'SNORD16', 'score': 10.35}, {'connected_gene': 'SNORD18A', 'score': 10.35}, {'connected_gene': 'ZWILCH', 'score': 10.35}, {'connected_gene': 'RPL4', 'score': 10.03}, {'connected_gene': 'ENSG00000261351', 'score': 6.6}, {'connected_gene': 'ATP5MFP6', 'score': 0.77}, {'connected_gene': 'GC15M066420', 'score': 0.44}]
chr15 GH15I066469 66469884 66475760 0.94 [{'connected_gene': 'TIPIN', 'score': 39.42}, {'connected_gene': 'SNAPC5', 'score': 26.13}, {'connected_gene': 'DIS3L', 'score': 9.49}, {'connected_gene': 'GC15M066489', 'score': 0.37}, {'connected_gene': 'RPL35AP32', 'score': 0.31}, {'connected_gene': 'MAP2K1', 'score': 0.17}]
chr15 GH15I066700 66700067 66708459 2.56 [{'connected_gene': 'SMAD6', 'score': 552.5}, {'connected_gene': 'ENSG00000260773', 'score': 40.69}, {'connected_gene': 'LOC646358', 'score': 12.27}, {'connected_gene': 'MAP2K5', 'score': 11.96}, {'connected_gene': 'IQCH-AS1', 'score': 11.44}, {'connected_gene': 'ZWILCH', 'score': 11.0}, {'connected_gene': 'SNORD16', 'score': 9.81}, {'connected_gene': 'MAP2K1', 'score': 2.22}, {'connected_gene': 'PIR60751', 'score': 0.77}]
chr15 GH15I066480 66480354 66482039 0.78 [{'connected_gene': 'DIS3L', 'score': 18.37}, {'connected_gene': 'SNORD16', 'score': 11.44}, {'connected_gene': 'SNORD18A', 'score': 11.44}, {'connected_gene': 'ZWILCH', 'score': 11.44}, {'connected_gene': 'SNORD18B', 'score': 11.38}, {'connected_gene': 'SNORD18C', 'score': 11.38}, {'connected_gene': 'RPL4', 'score': 11.36}, {'connected_gene': 'MAP2K1', 'score': 10.84}, {'connected_gene': 'TIPIN', 'score': 9.36}, {'connected_gene': 'ENSG00000261351', 'score': 7.31}, {'connected_gene': 'LOC105370868', 'score': 6.66}, {'connected_gene': 'GC15M066489', 'score': 0.44}, {'connected_gene': 'RPL35AP32', 'score': 0.29}]
chr15 GH15I066829 66829927 66836308 1.2 [{'connected_gene': 'DIS3L', 'score': 25.34}, {'connected_gene': 'SKOR1', 'score': 18.85}, {'connected_gene': 'TIPIN', 'score': 13.55}, {'connected_gene': 'SNORD16', 'score': 13.08}, {'connected_gene': 'ZWILCH', 'score': 12.59}, {'connected_gene': 'SNAPC5', 'score': 11.06}, {'connected_gene': 'MAP2K1', 'score': 5.19}, {'connected_gene': 'LOC105370869', 'score': 0.44}, {'connected_gene': 'LETM1P1', 'score': 0.34}]
chr15 GH15I066292 66292323 66295531 2.02 [{'connected_gene': 'DIS3L', 'score': 569.21}, {'connected_gene': 'LOC105370868', 'score': 557.85}, {'connected_gene': 'SNAPC5', 'score': 27.49}, {'connected_gene': 'TIPIN', 'score': 27.06}, {'connected_gene': 'MAP2K1', 'score': 10.22}, {'connected_gene': 'ENSG00000260773', 'score': 0.28}]
chr15 GH15I066840 66839118 66844576 1.42 [{'connected_gene': 'LOC105370869', 'score': 550.77}, {'connected_gene': 'MAP2K1', 'score': 5.29}, {'connected_gene': 'LETM1P1', 'score': 0.29}]
chr15 GH15I066408 66408401 66409400 1.11 [{'connected_gene': 'SNAPC5', 'score': 10.76}, {'connected_gene': 'SNORD18B', 'score': 10.43}, {'connected_gene': 'SNORD16', 'score': 10.43}, {'connected_gene': 'SNORD18A', 'score': 10.43}, {'connected_gene': 'SNORD18C', 'score': 10.43}, {'connected_gene': 'ZWILCH', 'score': 10.42}, {'connected_gene': 'RPL4', 'score': 10.23}, {'connected_gene': 'DIS3L', 'score': 9.34}, {'connected_gene': 'MAP2K1', 'score': 7.11}, {'connected_gene': 'LOC105370868', 'score': 5.67}, {'connected_gene': 'GC15M066416', 'score': 0.44}]
chr15 GH15I066425 66425945 66427363 0.31 [{'connected_gene': 'SNAPC5', 'score': 24.67}, {'connected_gene': 'MAP2K1', 'score': 11.57}, {'connected_gene': 'SNORD18C', 'score': 10.57}, {'connected_gene': 'SNORD18B', 'score': 10.56}, {'connected_gene': 'SNORD16', 'score': 10.56}, {'connected_gene': 'SNORD18A', 'score': 10.56}, {'connected_gene': 'ZWILCH', 'score': 10.56}, {'connected_gene': 'DIS3L', 'score': 8.88}, {'connected_gene': 'GC15M066420', 'score': 0.77}, {'connected_gene': 'PIR45084', 'score': 0.39}]
chr15 GH15I066673 66673401 66673984 1.31 [{'connected_gene': 'LINC01169', 'score': 4.7}, {'connected_gene': 'MAP2K1', 'score': 1.87}, {'connected_gene': 'GC15P069498', 'score': 0.37}]
chr15 GH15I065774 65774725 65775484 0.49 [{'connected_gene': 'ENSG00000260773', 'score': 14.83}, {'connected_gene': 'RAB11A', 'score': 11.05}, {'connected_gene': 'INTS14', 'score': 10.76}, {'connected_gene': 'PDCD7', 'score': 10.29}, {'connected_gene': 'MAP2K1', 'score': 9.59}, {'connected_gene': 'SLC24A1', 'score': 8.73}, {'connected_gene': 'DENND4A', 'score': 8.61}, {'connected_gene': 'LOC646358', 'score': 0.77}]
chr15 GH15I066577 66577923 66578801 0.98 [{'connected_gene': 'ENSG00000260773', 'score': 14.86}, {'connected_gene': 'INTS14', 'score': 10.69}, {'connected_gene': 'RPL4', 'score': 10.34}, {'connected_gene': 'ZWILCH', 'score': 10.3}, {'connected_gene': 'SNORD16', 'score': 10.29}, {'connected_gene': 'SNORD18A', 'score': 10.29}, {'connected_gene': 'SNAPC5', 'score': 7.63}, {'connected_gene': 'MAP2K1', 'score': 7.56}, {'connected_gene': 'TIPIN', 'score': 5.45}, {'connected_gene': 'DIS3L', 'score': 4.59}, {'connected_gene': 'LINC01169', 'score': 0.77}, {'connected_gene': 'LCTL', 'score': 0.39}]
chr15 GH15I066415 66415209 66415398 0.5 [{'connected_gene': 'GC15M066416', 'score': 550.77}, {'connected_gene': 'ATP5MFP6', 'score': 550.77}, {'connected_gene': 'MAP2K1', 'score': 12.45}, {'connected_gene': 'SNAPC5', 'score': 10.97}, {'connected_gene': 'SNORD16', 'score': 10.35}, {'connected_gene': 'SNORD18A', 'score': 10.35}, {'connected_gene': 'ZWILCH', 'score': 10.35}, {'connected_gene': 'RPL4', 'score': 9.61}, {'connected_gene': 'GC15M066420', 'score': 0.44}]
chr15 GH15I066848 66848112 66852946 1.4 [{'connected_gene': 'ENSG00000260773', 'score': 26.15}, {'connected_gene': 'SKOR1', 'score': 22.4}, {'connected_gene': 'DIS3L', 'score': 20.53}, {'connected_gene': 'IQCH-AS1', 'score': 11.44}, {'connected_gene': 'ZWILCH', 'score': 10.98}, {'connected_gene': 'SNORD16', 'score': 9.79}, {'connected_gene': 'MAP2K1', 'score': 5.69}, {'connected_gene': 'LOC105376718', 'score': 0.44}, {'connected_gene': 'LOC105370869', 'score': 0.44}]

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