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
ENST00000340611 [[2577510, 2578398], [2578812, 2578985], [2579177, 2579276], [2579419, 2579522], [2580612, 2580686], [2580931, 2581118], [2581351, 2581470], [2581753, 2581845], [2582837, 2582957], [2583223, 2583596], [2584542, 2584690], [2586957, 2587112], [2593938, 2594081], [2595120, 2595361]] [[2577702, 2578398], [2578812, 2578985], [2579177, 2579276], [2579419, 2579522], [2580612, 2580686], [2580931, 2581118], [2581351, 2581470], [2581753, 2581845], [2582837, 2582957], [2583223, 2583596], [2584542, 2584690], [2586957, 2587112], [2593938, 2594065]]
ENST00000493232 [[2577514, 2578398], [2579177, 2581118], [2581351, 2583886]] None
ENST00000467558 [[2577514, 2578985], [2579177, 2579276], [2579419, 2580686], [2580931, 2581118], [2581351, 2581470], [2581753, 2581845], [2582837, 2583596], [2584542, 2584690], [2586957, 2587112], [2593938, 2594081]] None
ENST00000469750 [[2577514, 2578398], [2578812, 2578985], [2579177, 2579276], [2579419, 2580686], [2580931, 2581118], [2581351, 2581470], [2581753, 2583596], [2584542, 2584690], [2586957, 2587112], [2593938, 2594081], [2595120, 2595328]] None
ENST00000473879 [[2578045, 2578398], [2579177, 2579276], [2579419, 2579522], [2580463, 2580528], [2580612, 2580658]] None
ENST00000421712 [[2581814, 2581845], [2582837, 2582957], [2583223, 2583596], [2586957, 2587112], [2593938, 2594082]] [[2583371, 2583596], [2586957, 2587112], [2593938, 2594065]]
NM_152743 [[2577443, 2578398], [2578812, 2578985], [2579177, 2579276], [2579419, 2579522], [2580612, 2580686], [2580931, 2581118], [2581351, 2581470], [2581753, 2581845], [2582837, 2582957], [2583223, 2583596], [2584542, 2584690], [2586957, 2587112], [2593938, 2594081], [2595120, 2595392]] [[2577702, 2578398], [2578812, 2578985], [2579177, 2579276], [2579419, 2579522], [2580612, 2580686], [2580931, 2581118], [2581351, 2581470], [2581753, 2581845], [2582837, 2582957], [2583223, 2583596], [2584542, 2584690], [2586957, 2587112], [2593938, 2594065]]
Promoter
Chrom Start End Description
chr7 2595112 2595126 CAGE_peak_2_at_BRAT1_5end
chr7 2595129 2595165 CAGE_peak_1_at_BRAT1_5end
chr7 2595171 2595185 CAGE_peak_3_at_BRAT1_5end
chr7 2595337 2595360 CAGE_peak_5_at_BRAT1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I002408 2408602 2410930 0.99 [{'connected_gene': 'EIF3B', 'score': 17.99}, {'connected_gene': 'CHST12', 'score': 13.16}, {'connected_gene': 'LOC645357', 'score': 13.11}, {'connected_gene': 'BRAT1', 'score': 11.01}, {'connected_gene': 'GC07P002406', 'score': 0.77}, {'connected_gene': 'GRIFIN', 'score': 0.2}]
chr7 GH07I002352 2352969 2356954 2.29 [{'connected_gene': 'EIF3B', 'score': 592.61}, {'connected_gene': 'SNX8', 'score': 550.77}, {'connected_gene': 'BRAT1', 'score': 22.59}, {'connected_gene': 'GC07M002353', 'score': 0.77}]
chr7 GH07I003193 3193435 3195916 0.97 [{'connected_gene': 'CARD11', 'score': 19.63}, {'connected_gene': 'BRAT1', 'score': 15.11}, {'connected_gene': 'CHST12', 'score': 11.91}, {'connected_gene': 'EIF3B', 'score': 11.64}, {'connected_gene': 'LOC105375132', 'score': 10.55}, {'connected_gene': 'SDK1', 'score': 10.55}, {'connected_gene': 'LOC100129603', 'score': 5.47}, {'connected_gene': 'NUDT1', 'score': 4.46}, {'connected_gene': 'ENSG00000231892', 'score': 0.77}, {'connected_gene': 'GC07P003179', 'score': 0.39}]
chr7 GH07I003066 3066687 3071542 0.97 [{'connected_gene': 'CARD11', 'score': 16.01}, {'connected_gene': 'LOC101927256', 'score': 10.92}, {'connected_gene': 'BRAT1', 'score': 10.34}, {'connected_gene': 'CHST12', 'score': 10.26}, {'connected_gene': 'GC07M003056', 'score': 0.39}, {'connected_gene': 'ENSG00000228334', 'score': 0.37}]
chr7 GH07I002626 2626276 2642973 2.79 [{'connected_gene': 'TTYH3', 'score': 614.83}, {'connected_gene': 'LFNG', 'score': 16.06}, {'connected_gene': 'AMZ1', 'score': 12.61}, {'connected_gene': 'CHST12', 'score': 12.3}, {'connected_gene': 'BRAT1', 'score': 11.56}, {'connected_gene': 'EIF3B', 'score': 10.27}, {'connected_gene': 'IQCE', 'score': 6.61}, {'connected_gene': 'SNX8', 'score': 2.69}]
chr7 GH07I002601 2601207 2601356 0.43 [{'connected_gene': 'TTYH3', 'score': 16.94}, {'connected_gene': 'BRAT1', 'score': 11.48}, {'connected_gene': 'IQCE', 'score': 5.91}, {'connected_gene': 'GC07P002574', 'score': 0.31}]
chr7 GH07I002606 2606744 2610361 1.27 [{'connected_gene': 'TTYH3', 'score': 29.52}, {'connected_gene': 'BRAT1', 'score': 23.92}, {'connected_gene': 'AMZ1', 'score': 12.33}, {'connected_gene': 'CHST12', 'score': 11.95}, {'connected_gene': 'IQCE', 'score': 8.82}, {'connected_gene': 'LFNG', 'score': 3.08}, {'connected_gene': 'SNX8', 'score': 2.28}, {'connected_gene': 'GC07P002574', 'score': 0.29}]
chr7 GH07I002619 2619835 2625654 1.64 [{'connected_gene': 'TTYH3', 'score': 16.66}, {'connected_gene': 'AMZ1', 'score': 12.31}, {'connected_gene': 'IQCE', 'score': 11.79}, {'connected_gene': 'BRAT1', 'score': 11.78}, {'connected_gene': 'GC07P002574', 'score': 0.25}]
chr7 GH07I001575 1575717 1577709 0.92 [{'connected_gene': 'MAFK', 'score': 13.19}, {'connected_gene': 'BRAT1', 'score': 12.53}, {'connected_gene': 'DNAAF5', 'score': 11.6}, {'connected_gene': 'ENSG00000231927', 'score': 11.0}, {'connected_gene': 'INTS1', 'score': 10.98}, {'connected_gene': 'EIF3B', 'score': 10.93}, {'connected_gene': 'SUN1', 'score': 9.93}, {'connected_gene': 'PSMG3-AS1', 'score': 8.97}, {'connected_gene': 'ELFN1', 'score': 4.35}, {'connected_gene': 'PSMG3', 'score': 0.44}, {'connected_gene': 'GC07P001567', 'score': 0.44}, {'connected_gene': 'LOC105375122', 'score': 0.37}]
chr7 GH07I002411 2411597 2413235 1 [{'connected_gene': 'LOC645357', 'score': 13.09}, {'connected_gene': 'EIF3B', 'score': 13.02}, {'connected_gene': 'CHST12', 'score': 11.89}, {'connected_gene': 'BRAT1', 'score': 11.01}, {'connected_gene': 'GC07P002406', 'score': 0.44}, {'connected_gene': 'GRIFIN', 'score': 0.21}]
chr7 GH07I002413 2413546 2413695 0.54 [{'connected_gene': 'LOC645357', 'score': 13.09}, {'connected_gene': 'EIF3B', 'score': 13.02}, {'connected_gene': 'BRAT1', 'score': 11.01}, {'connected_gene': 'GC07P002406', 'score': 0.44}, {'connected_gene': 'CHST12', 'score': 0.39}, {'connected_gene': 'GRIFIN', 'score': 0.21}]
chr7 GH07I002362 2362453 2363490 0.31 [{'connected_gene': 'CHST12', 'score': 12.78}, {'connected_gene': 'EIF3B', 'score': 12.47}, {'connected_gene': 'MAD1L1', 'score': 11.27}, {'connected_gene': 'MRM2', 'score': 11.27}, {'connected_gene': 'NUDT1', 'score': 11.27}, {'connected_gene': 'BRAT1', 'score': 10.43}, {'connected_gene': 'GC07P002359', 'score': 0.77}, {'connected_gene': 'PIR35679', 'score': 0.39}, {'connected_gene': 'GC07M002361', 'score': 0.39}]
chr7 GH07I002402 2402752 2407779 2.04 [{'connected_gene': 'CHST12', 'score': 563.32}, {'connected_gene': 'GC07P002406', 'score': 550.77}, {'connected_gene': 'EIF3B', 'score': 20.18}, {'connected_gene': 'LOC645357', 'score': 13.14}, {'connected_gene': 'BRAT1', 'score': 11.0}]
chr7 GH07I002438 2438246 2439160 0.2 [{'connected_gene': 'CHST12', 'score': 21.78}, {'connected_gene': 'LOC645357', 'score': 12.08}, {'connected_gene': 'EIF3B', 'score': 12.04}, {'connected_gene': 'LFNG', 'score': 12.01}, {'connected_gene': 'BRAT1', 'score': 11.12}, {'connected_gene': 'IQCE', 'score': 11.12}, {'connected_gene': 'GC07P002406', 'score': 0.29}, {'connected_gene': 'GRIFIN', 'score': 0.28}]
chr7 GH07I001950 1950791 1951915 1.23 [{'connected_gene': 'CHST12', 'score': 10.5}, {'connected_gene': 'MRM2', 'score': 10.41}, {'connected_gene': 'BRAT1', 'score': 10.12}, {'connected_gene': 'MAFK', 'score': 7.46}, {'connected_gene': 'SNX8', 'score': 4.87}, {'connected_gene': 'GC07P001949', 'score': 0.77}, {'connected_gene': 'GC07M001985', 'score': 0.28}, {'connected_gene': 'MAD1L1', 'score': 0.06}]
chr7 GH07I002451 2451151 2452975 1.09 [{'connected_gene': 'CHST12', 'score': 12.25}, {'connected_gene': 'BRAT1', 'score': 12.22}, {'connected_gene': 'IQCE', 'score': 12.22}, {'connected_gene': 'LOC645357', 'score': 12.2}, {'connected_gene': 'EIF3B', 'score': 12.16}, {'connected_gene': 'SNX8', 'score': 11.81}, {'connected_gene': 'TTYH3', 'score': 11.76}, {'connected_gene': 'AMZ1', 'score': 11.74}, {'connected_gene': 'LFNG', 'score': 7.44}, {'connected_gene': 'GRIFIN', 'score': 0.34}, {'connected_gene': 'GC07P002406', 'score': 0.25}]
chr7 GH07I002487 2487498 2489041 0.66 [{'connected_gene': 'LFNG', 'score': 22.91}, {'connected_gene': 'TTYH3', 'score': 11.76}, {'connected_gene': 'AMZ1', 'score': 11.67}, {'connected_gene': 'BRAT1', 'score': 11.31}, {'connected_gene': 'GRIFIN', 'score': 0.39}]
chr7 GH07I002439 2439975 2442122 0.75 [{'connected_gene': 'LFNG', 'score': 12.01}, {'connected_gene': 'BRAT1', 'score': 10.87}, {'connected_gene': 'GC07P002406', 'score': 0.29}, {'connected_gene': 'CHST12', 'score': 0.28}, {'connected_gene': 'GRIFIN', 'score': 0.28}]
chr7 GH07I002444 2444606 2444755 0.2 [{'connected_gene': 'LFNG', 'score': 12.02}, {'connected_gene': 'BRAT1', 'score': 10.87}, {'connected_gene': 'GRIFIN', 'score': 0.29}, {'connected_gene': 'GC07P002406', 'score': 0.28}, {'connected_gene': 'CHST12', 'score': 0.26}]
chr7 GH07I002445 2444400 2444601 0.2 [{'connected_gene': 'LFNG', 'score': 12.02}, {'connected_gene': 'BRAT1', 'score': 10.87}, {'connected_gene': 'GRIFIN', 'score': 0.29}, {'connected_gene': 'GC07P002406', 'score': 0.28}, {'connected_gene': 'CHST12', 'score': 0.26}]
chr7 GH07I002507 2507706 2513728 2.12 [{'connected_gene': 'LFNG', 'score': 561.6}, {'connected_gene': 'BRAT1', 'score': 6.52}, {'connected_gene': 'GRIFIN', 'score': 0.29}]
chr7 GH07I002515 2515322 2533399 2.75 [{'connected_gene': 'LFNG', 'score': 571.55}, {'connected_gene': 'BRAT1', 'score': 11.25}, {'connected_gene': 'IQCE', 'score': 1.86}, {'connected_gene': 'MIR4648', 'score': 0.77}, {'connected_gene': 'GC07P002527', 'score': 0.77}]
chr7 GH07I002241 2241219 2243532 2.03 [{'connected_gene': 'MRM2', 'score': 562.76}, {'connected_gene': 'PIR43450', 'score': 550.77}, {'connected_gene': 'NUDT1', 'score': 550.77}, {'connected_gene': 'BRAT1', 'score': 11.82}, {'connected_gene': 'EIF3B', 'score': 10.7}, {'connected_gene': 'SNX8', 'score': 5.59}]
chr7 GH07I002309 2309426 2315131 2.32 [{'connected_gene': 'SNX8', 'score': 571.98}, {'connected_gene': 'MRM2', 'score': 12.35}, {'connected_gene': 'NUDT1', 'score': 12.35}, {'connected_gene': 'MAD1L1', 'score': 12.34}, {'connected_gene': 'CHST12', 'score': 10.61}, {'connected_gene': 'BRAT1', 'score': 10.16}, {'connected_gene': 'GC07P002305', 'score': 0.44}, {'connected_gene': 'GC07M002345', 'score': 0.28}]
chr7 GH07I002841 2841419 2846019 2.18 [{'connected_gene': 'GNA12', 'score': 575.0}, {'connected_gene': 'EIF3B', 'score': 23.11}, {'connected_gene': 'BRAT1', 'score': 10.77}, {'connected_gene': 'LOC100131264', 'score': 0.44}]
chr7 GH07I002756 2756258 2764928 2.28 [{'connected_gene': 'GNA12', 'score': 579.59}, {'connected_gene': 'BRAT1', 'score': 40.18}, {'connected_gene': 'CHST12', 'score': 29.98}, {'connected_gene': 'EIF3B', 'score': 20.37}, {'connected_gene': 'AMZ1', 'score': 18.85}, {'connected_gene': 'LFNG', 'score': 11.75}, {'connected_gene': 'TTYH3', 'score': 11.17}, {'connected_gene': 'SNX8', 'score': 1.76}, {'connected_gene': 'GC07M002729', 'score': 0.29}, {'connected_gene': 'PIR32151', 'score': 0.22}]
chr7 GH07I002727 2727716 2736079 1.61 [{'connected_gene': 'GNA12', 'score': 29.62}, {'connected_gene': 'BRAT1', 'score': 23.12}, {'connected_gene': 'CHST12', 'score': 10.85}, {'connected_gene': 'AMZ1', 'score': 7.25}, {'connected_gene': 'LFNG', 'score': 3.79}, {'connected_gene': 'SNX8', 'score': 1.49}, {'connected_gene': 'GC07M002729', 'score': 0.77}, {'connected_gene': 'PIR32151', 'score': 0.17}]
chr7 GH07I002873 2873154 2874744 1.03 [{'connected_gene': 'GNA12', 'score': 15.88}, {'connected_gene': 'BRAT1', 'score': 11.69}, {'connected_gene': 'SDK1', 'score': 10.31}, {'connected_gene': 'LOC105375132', 'score': 10.31}, {'connected_gene': 'CARD11', 'score': 10.18}, {'connected_gene': 'GC07P002880', 'score': 0.44}]
chr7 GH07I002818 2818164 2826928 1.64 [{'connected_gene': 'GNA12', 'score': 28.37}, {'connected_gene': 'BRAT1', 'score': 16.54}, {'connected_gene': 'LOC101927256', 'score': 10.45}, {'connected_gene': 'LFNG', 'score': 7.25}, {'connected_gene': 'NUDT1', 'score': 5.1}, {'connected_gene': 'PIR32151', 'score': 0.77}, {'connected_gene': 'LOC100131264', 'score': 0.39}]
chr7 GH07I002557 2557875 2560613 1.98 [{'connected_gene': 'IQCE', 'score': 550.77}, {'connected_gene': 'BRAT1', 'score': 8.29}, {'connected_gene': 'GC07P002574', 'score': 0.37}]
chr7 GH07I002553 2553963 2556639 2 [{'connected_gene': 'BRAT1', 'score': 571.41}, {'connected_gene': 'EIF3B', 'score': 10.99}, {'connected_gene': 'PIR48387', 'score': 0.39}]
chr7 GH07I002496 2496027 2496216 0.43 [{'connected_gene': 'BRAT1', 'score': 11.36}, {'connected_gene': 'LFNG', 'score': 0.37}, {'connected_gene': 'GRIFIN', 'score': 0.37}]
chr7 GH07I002686 2686847 2689800 1.74 [{'connected_gene': 'AMZ1', 'score': 564.29}, {'connected_gene': 'BRAT1', 'score': 12.62}, {'connected_gene': 'EIF3B', 'score': 10.96}, {'connected_gene': 'GC07P002723', 'score': 0.29}]
chr7 GH07I002616 2616336 2619605 1.34 [{'connected_gene': 'AMZ1', 'score': 12.3}, {'connected_gene': 'BRAT1', 'score': 10.83}, {'connected_gene': 'TTYH3', 'score': 5.1}, {'connected_gene': 'IQCE', 'score': 1.62}, {'connected_gene': 'GC07P002574', 'score': 0.26}]
chr7 GH07I002610 2610441 2615237 1.19 [{'connected_gene': 'AMZ1', 'score': 12.34}, {'connected_gene': 'BRAT1', 'score': 11.59}, {'connected_gene': 'IQCE', 'score': 6.54}, {'connected_gene': 'TTYH3', 'score': 5.34}, {'connected_gene': 'GC07P002574', 'score': 0.28}]
chr7 GH07I002680 2680987 2681156 0.89 [{'connected_gene': 'AMZ1', 'score': 550.77}, {'connected_gene': 'BRAT1', 'score': 10.51}, {'connected_gene': 'GC07P002723', 'score': 0.26}]
chr7 GH07I001741 1741241 1745587 1.16 [{'connected_gene': 'ELFN1-AS1', 'score': 555.09}, {'connected_gene': 'BRAT1', 'score': 11.76}, {'connected_gene': 'NUDT1', 'score': 5.47}, {'connected_gene': 'GC07P001739', 'score': 0.77}, {'connected_gene': 'PIR40429', 'score': 0.21}, {'connected_gene': 'ELFN1', 'score': 0.18}]
chr7 GH07I001841 1841809 1845267 0.79 [{'connected_gene': 'MIR4655', 'score': 550.77}, {'connected_gene': 'EIF3B', 'score': 11.95}, {'connected_gene': 'CHST12', 'score': 10.95}, {'connected_gene': 'BRAT1', 'score': 10.31}, {'connected_gene': 'LOC100127955', 'score': 7.14}, {'connected_gene': 'NUDT1', 'score': 5.01}, {'connected_gene': 'MRM2', 'score': 4.84}, {'connected_gene': 'TMEM184A', 'score': 4.6}, {'connected_gene': 'IQCE', 'score': 4.37}, {'connected_gene': 'GC07M001835', 'score': 0.77}, {'connected_gene': 'MAD1L1', 'score': 0.05}]
chr7 GH07I002409 2408406 2408555 0.38 [{'connected_gene': 'GC07P002406', 'score': 550.77}, {'connected_gene': 'LOC645357', 'score': 13.11}, {'connected_gene': 'EIF3B', 'score': 13.03}, {'connected_gene': 'BRAT1', 'score': 11.01}, {'connected_gene': 'CHST12', 'score': 0.77}, {'connected_gene': 'GRIFIN', 'score': 0.2}]
chr7 GH07I002542 2542996 2544282 0.31 [{'connected_gene': 'PIR48387', 'score': 550.77}, {'connected_gene': 'BRAT1', 'score': 10.24}, {'connected_gene': 'GC07P002527', 'score': 0.37}]
chr7 GH07I002539 2539390 2540012 0.56 [{'connected_gene': 'PIR48387', 'score': 0.77}, {'connected_gene': 'GC07P002527', 'score': 0.39}, {'connected_gene': 'BRAT1', 'score': 0.37}]