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
ENST00000426959 [[123363090, 123367919], [123370018, 123370288], [123374673, 123374817], [123384893, 123385033], [123421651, 123421853], [123452203, 123452273], [123453687, 123453752], [123476035, 123476612]] [[123367467, 123367919], [123370018, 123370288], [123374673, 123374817], [123384893, 123385033], [123421651, 123421853], [123452203, 123452273], [123453687, 123453752], [123476035, 123476612]]
ENST00000373930 [[123363090, 123367919], [123370018, 123370288], [123374673, 123374817], [123384893, 123385033], [123421651, 123421853], [123476035, 123476748]] [[123367467, 123367919], [123370018, 123370288], [123374673, 123374817], [123384893, 123385033], [123421651, 123421853], [123476035, 123476636]]
NM_001080497 [[123363195, 123367919], [123370018, 123370288], [123374673, 123374817], [123384893, 123385033], [123421651, 123421853], [123476035, 123476765]] [[123367467, 123367919], [123370018, 123370288], [123374673, 123374817], [123384893, 123385033], [123421651, 123421853], [123476035, 123476636]]
Promoter
Chrom Start End Description
chr9 123476111 123476124 CAGE_peak_7_at_MEGF9_5end
chr9 123476423 123476432 CAGE_peak_5_at_MEGF9_5end
chr9 123476680 123476698 CAGE_peak_2_at_MEGF9_5end
chr9 123476699 123476713 CAGE_peak_3_at_MEGF9_5end
chr9 123476719 123476810 CAGE_peak_1_at_MEGF9_5end
chr9 123476819 123476830 CAGE_peak_4_at_MEGF9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I120755 120755801 120756092 0.92 [{'connected_gene': 'PSMD5', 'score': 22.61}, {'connected_gene': 'CUTALP', 'score': 12.12}, {'connected_gene': 'MEGF9', 'score': 11.1}, {'connected_gene': 'AHCYP2', 'score': 0.28}, {'connected_gene': 'FBXW2', 'score': 0.28}, {'connected_gene': 'PIR59216', 'score': 0.28}]
chr9 GH09I120578 120578740 120581192 2.07 [{'connected_gene': 'CDK5RAP2', 'score': 558.57}, {'connected_gene': 'PIR42935', 'score': 550.77}, {'connected_gene': 'PSMD5', 'score': 25.44}, {'connected_gene': 'FBXW2', 'score': 25.31}, {'connected_gene': 'CNTRL', 'score': 10.68}, {'connected_gene': 'ENSG00000270917', 'score': 9.93}, {'connected_gene': 'MEGF9', 'score': 4.26}, {'connected_gene': 'PIR33352', 'score': 0.18}]
chr9 GH09I120613 120613630 120614934 0.2 [{'connected_gene': 'CDK5RAP2', 'score': 11.1}, {'connected_gene': 'CUTALP', 'score': 4.64}, {'connected_gene': 'PIR45570', 'score': 0.44}, {'connected_gene': 'MEGF9', 'score': 0.15}]
chr9 GH09I120625 120625201 120625601 0.58 [{'connected_gene': 'CDK5RAP2', 'score': 9.8}, {'connected_gene': 'CUTALP', 'score': 4.4}, {'connected_gene': 'PIR45570', 'score': 0.77}, {'connected_gene': 'MEGF9', 'score': 0.17}]
chr9 GH09I120683 120683763 120685413 1.56 [{'connected_gene': 'CUTALP', 'score': 28.46}, {'connected_gene': 'TRAF1', 'score': 11.98}, {'connected_gene': 'MEGF9', 'score': 0.31}, {'connected_gene': 'PIR45570', 'score': 0.21}]
chr9 GH09I120704 120704386 120707984 0.54 [{'connected_gene': 'CUTALP', 'score': 28.71}, {'connected_gene': 'CDK5RAP2', 'score': 9.89}, {'connected_gene': 'MEGF9', 'score': 0.44}, {'connected_gene': 'PIR45570', 'score': 0.18}]
chr9 GH09I120608 120608361 120609725 0.38 [{'connected_gene': 'CUTALP', 'score': 20.78}, {'connected_gene': 'PIR45570', 'score': 0.39}, {'connected_gene': 'CDK5RAP2', 'score': 0.31}, {'connected_gene': 'MEGF9', 'score': 0.14}]
chr9 GH09I120702 120702212 120704030 0.63 [{'connected_gene': 'CUTALP', 'score': 28.62}, {'connected_gene': 'CDK5RAP2', 'score': 10.67}, {'connected_gene': 'MEGF9', 'score': 0.39}, {'connected_gene': 'PIR45570', 'score': 0.18}]
chr9 GH09I120716 120716938 120717478 0.63 [{'connected_gene': 'CUTALP', 'score': 32.7}, {'connected_gene': 'AHCYP2', 'score': 0.77}, {'connected_gene': 'MEGF9', 'score': 0.77}]
chr9 GH09I120734 120734402 120736800 1.28 [{'connected_gene': 'CUTALP', 'score': 31.19}, {'connected_gene': 'MEGF9', 'score': 12.83}, {'connected_gene': 'TRAF1', 'score': 10.93}, {'connected_gene': 'PSMD5', 'score': 8.36}, {'connected_gene': 'AHCYP2', 'score': 0.37}, {'connected_gene': 'PIR59216', 'score': 0.22}]
chr9 GH09I120666 120666435 120672797 0.6 [{'connected_gene': 'CUTALP', 'score': 41.02}, {'connected_gene': 'MEGF9', 'score': 12.22}, {'connected_gene': 'PSMD5', 'score': 12.19}, {'connected_gene': 'CNTRL', 'score': 10.12}, {'connected_gene': 'CDK5RAP2', 'score': 10.1}, {'connected_gene': 'PIR45570', 'score': 0.25}]
chr9 GH09I120640 120640886 120646878 0.69 [{'connected_gene': 'CUTALP', 'score': 28.5}, {'connected_gene': 'MEGF9', 'score': 11.46}, {'connected_gene': 'CDK5RAP2', 'score': 10.68}, {'connected_gene': 'PIR45570', 'score': 0.34}]
chr9 GH09I120662 120662262 120665107 0.54 [{'connected_gene': 'CUTALP', 'score': 26.03}, {'connected_gene': 'MEGF9', 'score': 12.03}, {'connected_gene': 'CDK5RAP2', 'score': 10.11}, {'connected_gene': 'PIR45570', 'score': 0.26}]
chr9 GH09I120658 120658297 120661414 0.52 [{'connected_gene': 'CUTALP', 'score': 27.7}, {'connected_gene': 'MEGF9', 'score': 11.48}, {'connected_gene': 'CDK5RAP2', 'score': 9.99}, {'connected_gene': 'PIR45570', 'score': 0.28}]
chr9 GH09I120673 120673878 120675259 0.31 [{'connected_gene': 'CUTALP', 'score': 24.52}, {'connected_gene': 'MEGF9', 'score': 0.28}, {'connected_gene': 'PIR45570', 'score': 0.23}]
chr9 GH09I120676 120676423 120677400 0.6 [{'connected_gene': 'CUTALP', 'score': 6.73}, {'connected_gene': 'MEGF9', 'score': 0.28}, {'connected_gene': 'PIR45570', 'score': 0.23}]
chr9 GH09I120647 120647481 120651549 0.67 [{'connected_gene': 'CUTALP', 'score': 28.23}, {'connected_gene': 'PIR45570', 'score': 0.31}, {'connected_gene': 'MEGF9', 'score': 0.21}]
chr9 GH09I120681 120681526 120683049 0.31 [{'connected_gene': 'CUTALP', 'score': 5.62}, {'connected_gene': 'MEGF9', 'score': 0.29}, {'connected_gene': 'PIR45570', 'score': 0.22}]
chr9 GH09I120708 120708763 120708912 0.51 [{'connected_gene': 'CUTALP', 'score': 4.38}, {'connected_gene': 'MEGF9', 'score': 0.44}, {'connected_gene': 'PIR45570', 'score': 0.17}]
chr9 GH09I120697 120697211 120699606 0.57 [{'connected_gene': 'CUTALP', 'score': 25.46}, {'connected_gene': 'MEGF9', 'score': 5.13}, {'connected_gene': 'PIR45570', 'score': 0.18}]
chr9 GH09I121026 121026623 121026772 0.67 [{'connected_gene': 'MEGF9', 'score': 10.14}, {'connected_gene': 'C5', 'score': 0.25}, {'connected_gene': 'CNTRL', 'score': 0.25}, {'connected_gene': 'TRAF1', 'score': 0.15}]
chr9 GH09I120783 120783401 120784392 1.24 [{'connected_gene': 'MEGF9', 'score': 12.5}, {'connected_gene': 'TRAF1', 'score': 7.52}, {'connected_gene': 'FBXW2', 'score': 2.27}, {'connected_gene': 'PIR59216', 'score': 0.44}, {'connected_gene': 'AHCYP2', 'score': 0.21}]
chr9 GH09I120630 120630881 120631070 0.43 [{'connected_gene': 'MEGF9', 'score': 13.33}, {'connected_gene': 'CDK5RAP2', 'score': 11.17}, {'connected_gene': 'TRAF1', 'score': 1.45}, {'connected_gene': 'PIR45570', 'score': 0.44}]
chr9 GH09I120639 120639601 120640594 0.69 [{'connected_gene': 'MEGF9', 'score': 11.25}, {'connected_gene': 'CDK5RAP2', 'score': 10.41}, {'connected_gene': 'CUTALP', 'score': 4.38}, {'connected_gene': 'PIR45570', 'score': 0.37}]
chr9 GH09I120628 120628215 120629656 0.62 [{'connected_gene': 'MEGF9', 'score': 12.16}, {'connected_gene': 'CDK5RAP2', 'score': 11.18}, {'connected_gene': 'CUTALP', 'score': 6.67}, {'connected_gene': 'PIR45570', 'score': 0.44}]
chr9 GH09I120619 120619843 120620032 0.86 [{'connected_gene': 'MEGF9', 'score': 12.05}, {'connected_gene': 'CDK5RAP2', 'score': 10.57}, {'connected_gene': 'CUTALP', 'score': 4.57}, {'connected_gene': 'PIR45570', 'score': 0.77}]
chr9 GH09I120652 120652664 120656427 0.64 [{'connected_gene': 'MEGF9', 'score': 11.47}, {'connected_gene': 'CDK5RAP2', 'score': 10.41}, {'connected_gene': 'CUTALP', 'score': 5.8}, {'connected_gene': 'PIR45570', 'score': 0.29}]
chr9 GH09I120657 120657001 120658196 0.38 [{'connected_gene': 'MEGF9', 'score': 11.47}, {'connected_gene': 'CDK5RAP2', 'score': 9.99}, {'connected_gene': 'CUTALP', 'score': 4.42}, {'connected_gene': 'PIR45570', 'score': 0.29}]
chr9 GH09I120616 120616712 120618848 0.69 [{'connected_gene': 'MEGF9', 'score': 12.04}, {'connected_gene': 'CDK5RAP2', 'score': 11.08}, {'connected_gene': 'CUTALP', 'score': 4.98}, {'connected_gene': 'PIR45570', 'score': 0.77}]
chr9 GH09I120757 120757001 120757600 0.43 [{'connected_gene': 'MEGF9', 'score': 11.71}, {'connected_gene': 'AHCYP2', 'score': 0.28}, {'connected_gene': 'FBXW2', 'score': 0.28}, {'connected_gene': 'PIR59216', 'score': 0.28}]
chr9 GH09I120474 120474402 120476179 0.92 [{'connected_gene': 'MEGF9', 'score': 13.98}, {'connected_gene': 'FBXW2', 'score': 2.5}, {'connected_gene': 'PIR42824', 'score': 0.31}, {'connected_gene': 'GC09P120416', 'score': 0.22}, {'connected_gene': 'CDK5RAP2', 'score': 0.15}]
chr9 GH09I120778 120778376 120779512 0.89 [{'connected_gene': 'MEGF9', 'score': 11.87}, {'connected_gene': 'FBXW2', 'score': 0.39}, {'connected_gene': 'PIR59216', 'score': 0.39}, {'connected_gene': 'AHCYP2', 'score': 0.22}]
chr9 GH09I120709 120709422 120716358 2.45 [{'connected_gene': 'MEGF9', 'score': 555.45}, {'connected_gene': 'CUTALP', 'score': 37.75}, {'connected_gene': 'CNTRL', 'score': 26.32}, {'connected_gene': 'PSMD5', 'score': 16.39}, {'connected_gene': 'FBXW2', 'score': 15.75}, {'connected_gene': 'PIR45570', 'score': 0.16}]
chr9 GH09I120692 120692447 120694703 1.04 [{'connected_gene': 'MEGF9', 'score': 5.1}, {'connected_gene': 'CUTALP', 'score': 4.37}, {'connected_gene': 'PIR45570', 'score': 0.19}]
chr9 GH09I120680 120680351 120681161 0.38 [{'connected_gene': 'MEGF9', 'score': 5.06}, {'connected_gene': 'PIR45570', 'score': 0.22}]
chr9 GH09I120689 120689463 120690477 0.82 [{'connected_gene': 'MEGF9', 'score': 0.34}, {'connected_gene': 'PIR45570', 'score': 0.2}]
chr9 GH09I120696 120696960 120697072 0.74 [{'connected_gene': 'MEGF9', 'score': 0.37}, {'connected_gene': 'PIR45570', 'score': 0.19}]
chr9 GH09I120583 120583243 120585058 1.26 [{'connected_gene': 'GGTA1P', 'score': 4.65}, {'connected_gene': 'MEGF9', 'score': 4.53}, {'connected_gene': 'CUTALP', 'score': 4.14}, {'connected_gene': 'TRAF1', 'score': 1.91}, {'connected_gene': 'CDK5RAP2', 'score': 0.77}, {'connected_gene': 'PIR45570', 'score': 0.28}]
chr9 GH09I120622 120622698 120624403 0.54 [{'connected_gene': 'PIR45570', 'score': 550.77}, {'connected_gene': 'MEGF9', 'score': 11.35}, {'connected_gene': 'CDK5RAP2', 'score': 10.76}]
chr9 GH09I120621 120621438 120622685 0.49 [{'connected_gene': 'PIR45570', 'score': 550.77}, {'connected_gene': 'MEGF9', 'score': 15.66}, {'connected_gene': 'CUTALP', 'score': 11.7}, {'connected_gene': 'CDK5RAP2', 'score': 10.56}]
chr9 GH09I121611 121611993 121613707 1.28 [{'connected_gene': 'ENSG00000229854', 'score': 12.27}, {'connected_gene': 'DAB2IP', 'score': 11.93}, {'connected_gene': 'MEGF9', 'score': 4.59}, {'connected_gene': 'LOC105376257', 'score': 0.13}]