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
ENST00000258711 [[2443222, 2443280], [2472197, 2474242]] [[2472274, 2473519]]
ENST00000432336 [[2443733, 2443841], [2472197, 2473010]] [[2472274, 2473010]]
NM_001243794 [[2443194, 2443280], [2472197, 2474242]] [[2472274, 2473519]]
NM_001243795 [[2443194, 2443294], [2472197, 2474242]] [[2472274, 2473519]]
NM_018641 [[2443194, 2443308], [2472197, 2474242]] [[2472274, 2473519]]
Promoter
Chrom Start End Description
chr7 2443202 2443260 CAGE_peak_1_at_CHST12_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I002417 2417276 2419104 0.43 [{'connected_gene': 'EIF3B', 'score': 17.7}, {'connected_gene': 'LOC645357', 'score': 12.8}, {'connected_gene': 'TTYH3', 'score': 10.91}, {'connected_gene': 'CHST12', 'score': 9.58}, {'connected_gene': 'GC07P002406', 'score': 0.39}, {'connected_gene': 'GRIFIN', 'score': 0.22}]
chr7 GH07I002893 2893630 2895200 1.21 [{'connected_gene': 'EIF3B', 'score': 12.1}, {'connected_gene': 'CHST12', 'score': 9.93}, {'connected_gene': 'CARD11', 'score': 3.07}, {'connected_gene': 'GC07P002892', 'score': 0.77}, {'connected_gene': 'GC07M002896', 'score': 0.29}]
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 GH07I002887 2887067 2887256 0.84 [{'connected_gene': 'EIF3B', 'score': 12.1}, {'connected_gene': 'CHST12', 'score': 9.93}, {'connected_gene': 'GC07P002880', 'score': 0.44}, {'connected_gene': 'GC07P002892', 'score': 0.44}]
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 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 GH07I001456 1456872 1464041 2.57 [{'connected_gene': 'MICALL2', 'score': 550.77}, {'connected_gene': 'ENSG00000225981', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 44.63}, {'connected_gene': 'DNAAF5', 'score': 30.01}, {'connected_gene': 'SUN1', 'score': 21.68}, {'connected_gene': 'CHST12', 'score': 19.59}, {'connected_gene': 'EIF3B', 'score': 12.07}, {'connected_gene': 'MRM2', 'score': 10.68}, {'connected_gene': 'MAFK', 'score': 5.19}, {'connected_gene': 'ENSG00000273230', 'score': 0.44}]
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 GH07I002399 2399285 2401855 1.18 [{'connected_gene': 'CHST12', 'score': 9.87}, {'connected_gene': 'EIF3B', 'score': 6.37}, {'connected_gene': 'LOC402634', 'score': 0.44}]
chr7 GH07I001417 1417422 1418000 1.03 [{'connected_gene': 'CHST12', 'score': 10.26}, {'connected_gene': 'MICALL2', 'score': 7.54}, {'connected_gene': 'ENSG00000233082', 'score': 0.1}]
chr7 GH07I002432 2432206 2432215 0.38 [{'connected_gene': 'CHST12', 'score': 13.17}, {'connected_gene': 'LOC645357', 'score': 13.09}, {'connected_gene': 'EIF3B', 'score': 13.04}, {'connected_gene': 'GC07P002406', 'score': 0.31}, {'connected_gene': 'GRIFIN', 'score': 0.26}]
chr7 GH07I002425 2425826 2426081 0.31 [{'connected_gene': 'CHST12', 'score': 13.2}, {'connected_gene': 'LOC645357', 'score': 13.12}, {'connected_gene': 'EIF3B', 'score': 13.05}, {'connected_gene': 'GC07P002406', 'score': 0.37}, {'connected_gene': 'GRIFIN', 'score': 0.23}]
chr7 GH07I002431 2431546 2431755 0.49 [{'connected_gene': 'CHST12', 'score': 13.17}, {'connected_gene': 'LOC645357', 'score': 13.11}, {'connected_gene': 'EIF3B', 'score': 13.04}, {'connected_gene': 'GC07P002406', 'score': 0.31}, {'connected_gene': 'GRIFIN', 'score': 0.25}]
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 GH07I002426 2425446 2425655 0.62 [{'connected_gene': 'CHST12', 'score': 11.74}, {'connected_gene': 'GC07P002406', 'score': 0.37}, {'connected_gene': 'GRIFIN', 'score': 0.23}]
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 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 GH07I002325 2325155 2325600 0.76 [{'connected_gene': 'SNX8', 'score': 17.29}, {'connected_gene': 'EIF3B', 'score': 12.67}, {'connected_gene': 'MRM2', 'score': 12.19}, {'connected_gene': 'NUDT1', 'score': 12.19}, {'connected_gene': 'MAD1L1', 'score': 12.18}, {'connected_gene': 'LOC645357', 'score': 11.8}, {'connected_gene': 'CHST12', 'score': 11.76}, {'connected_gene': 'LFNG', 'score': 1.47}, {'connected_gene': 'GC07P002305', 'score': 0.37}, {'connected_gene': 'GC07M002345', 'score': 0.34}]
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 GH07I002856 2856865 2858039 1.01 [{'connected_gene': 'GNA12', 'score': 21.08}, {'connected_gene': 'EIF3B', 'score': 12.1}, {'connected_gene': 'CHST12', 'score': 9.93}, {'connected_gene': 'LOC100131264', 'score': 0.34}]
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 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}]

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