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
ENST00000435336 [[2304074, 2304093], [2309193, 2309274], [2311484, 2311606], [2314746, 2314864], [2317734, 2317940], [2393856, 2393944]] [[2304074, 2304093], [2309193, 2309274], [2311484, 2311606], [2314746, 2314864], [2317734, 2317875]]
ENST00000447136 [[2314750, 2314864], [2317734, 2317940], [2376750, 2376916], [2393856, 2393953]] [[2314750, 2314864], [2317734, 2317875]]
ENST00000222990 [[2291404, 2294804], [2296508, 2296658], [2296999, 2297149], [2297369, 2297438], [2302864, 2302997], [2303932, 2304093], [2309193, 2309274], [2311484, 2311606], [2314746, 2314864], [2317734, 2317940], [2353962, 2354099]] [[2294690, 2294804], [2296508, 2296658], [2296999, 2297149], [2297369, 2297438], [2302864, 2302997], [2303932, 2304093], [2309193, 2309274], [2311484, 2311606], [2314746, 2314864], [2317734, 2317940], [2353962, 2354056]]
ENST00000480807 [[2294674, 2294804], [2296508, 2296658], [2296999, 2297253]] None
ENST00000479689 [[2297300, 2297438], [2302864, 2302997], [2303932, 2304093], [2309193, 2309274], [2311484, 2311531]] None
ENST00000435060 [[2304000, 2304093], [2309193, 2309274], [2311484, 2311606], [2314746, 2314864], [2317734, 2317940], [2349439, 2349581]] [[2304000, 2304093], [2309193, 2309274], [2311484, 2311606], [2314746, 2314864], [2317734, 2317940], [2349439, 2349491]]
ENST00000457286 [[2304027, 2304093], [2309193, 2309274], [2311484, 2311606], [2314746, 2314864], [2317734, 2317940], [2338979, 2339072]] [[2304027, 2304093], [2309193, 2309274], [2311484, 2311606], [2314746, 2314864], [2317734, 2317875]]
ENST00000494722 [[2314594, 2314864], [2317734, 2317940], [2353962, 2354076]] None
ENST00000419693 [[2317748, 2317940], [2347362, 2347585]] [[2317748, 2317875]]
NM_013321 [[2291404, 2294804], [2296508, 2296658], [2296999, 2297149], [2297369, 2297438], [2302864, 2302997], [2303932, 2304093], [2309193, 2309274], [2311484, 2311606], [2314746, 2314864], [2317734, 2317940], [2353962, 2354110]] [[2294690, 2294804], [2296508, 2296658], [2296999, 2297149], [2297369, 2297438], [2302864, 2302997], [2303932, 2304093], [2309193, 2309274], [2311484, 2311606], [2314746, 2314864], [2317734, 2317940], [2353962, 2354056]]
Promoter
Chrom Start End Description
chr7 2349568 2349576 CAGE_peak_9_at_SNX8_5end
chr7 2349579 2349594 CAGE_peak_7_at_SNX8_5end
chr7 2354000 2354086 CAGE_peak_1_at_SNX8_5end
chr7 2354104 2354115 CAGE_peak_2_at_SNX8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH07I002167 2167826 2169258 0.76 [{'connected_gene': 'MAD1L1', 'score': 5.81}, {'connected_gene': 'SNX8', 'score': 4.44}, {'connected_gene': 'LOC105375126', 'score': 0.39}, {'connected_gene': 'GC07M002150', 'score': 0.39}]
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 GH07I001919 1919148 1921111 1.42 [{'connected_gene': 'MAFK', 'score': 3.31}, {'connected_gene': 'SNX8', 'score': 2.2}, {'connected_gene': 'GC07M001848', 'score': 0.34}, {'connected_gene': 'GC07P001949', 'score': 0.31}, {'connected_gene': 'MAD1L1', 'score': 0.06}]
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 GH07I002115 2115556 2117595 1.25 [{'connected_gene': 'NUDT1', 'score': 10.78}, {'connected_gene': 'LFNG', 'score': 8.7}, {'connected_gene': 'MRM2', 'score': 6.88}, {'connected_gene': 'EIF3B', 'score': 4.75}, {'connected_gene': 'SNX8', 'score': 3.49}, {'connected_gene': 'LOC105375127', 'score': 0.77}, {'connected_gene': 'GC07P002128', 'score': 0.39}, {'connected_gene': 'MAD1L1', 'score': 0.13}]
chr7 GH07I002236 2236423 2238754 1.28 [{'connected_gene': 'NUDT1', 'score': 17.19}, {'connected_gene': 'MRM2', 'score': 15.14}, {'connected_gene': 'LFNG', 'score': 5.88}, {'connected_gene': 'SNX8', 'score': 4.48}, {'connected_gene': 'MAD1L1', 'score': 0.77}]
chr7 GH07I002799 2799316 2799623 0.96 [{'connected_gene': 'LFNG', 'score': 6.29}, {'connected_gene': 'SNX8', 'score': 3.14}, {'connected_gene': 'GNA12', 'score': 1.67}, {'connected_gene': 'PIR32151', 'score': 0.34}, {'connected_gene': 'GC07M002729', 'score': 0.19}]
chr7 GH07I002018 2018002 2021159 1.42 [{'connected_gene': 'MRM2', 'score': 10.43}, {'connected_gene': 'PSMG3', 'score': 6.14}, {'connected_gene': 'NUDT1', 'score': 5.14}, {'connected_gene': 'SNX8', 'score': 3.42}, {'connected_gene': 'MAFK', 'score': 3.34}, {'connected_gene': 'GC07M001999', 'score': 0.37}, {'connected_gene': 'GC07M002088', 'score': 0.19}, {'connected_gene': 'MAD1L1', 'score': 0.08}]
chr7 GH07I002103 2103221 2113200 1.76 [{'connected_gene': 'MRM2', 'score': 10.08}, {'connected_gene': 'NUDT1', 'score': 8.06}, {'connected_gene': 'MAD1L1', 'score': 6.47}, {'connected_gene': 'LFNG', 'score': 3.23}, {'connected_gene': 'SNX8', 'score': 1.37}, {'connected_gene': 'LOC105375127', 'score': 0.44}, {'connected_gene': 'GC07P002097', 'score': 0.39}]
chr7 GH07I002317 2317030 2317298 0.39 [{'connected_gene': 'MRM2', 'score': 12.09}, {'connected_gene': 'NUDT1', 'score': 12.09}, {'connected_gene': 'MAD1L1', 'score': 12.07}, {'connected_gene': 'GC07P002305', 'score': 0.39}, {'connected_gene': 'GC07M002345', 'score': 0.29}, {'connected_gene': 'SNX8', 'score': 0.28}]
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 GH07I002145 2145969 2146071 0.35 [{'connected_gene': 'MRM2', 'score': 10.46}, {'connected_gene': 'LFNG', 'score': 2.82}, {'connected_gene': 'SNX8', 'score': 1.54}, {'connected_gene': 'GC07P002150', 'score': 0.77}, {'connected_gene': 'GC07P002128', 'score': 0.37}, {'connected_gene': 'MAD1L1', 'score': 0.17}]
chr7 GH07I002266 2266426 2267231 0.99 [{'connected_gene': 'MRM2', 'score': 8.23}, {'connected_gene': 'SNX8', 'score': 7.21}, {'connected_gene': 'MAD1L1', 'score': 1.54}, {'connected_gene': 'GC07P002270', 'score': 0.77}, {'connected_gene': 'MIR6836', 'score': 0.44}]
chr7 GH07I002298 2298335 2302102 1.33 [{'connected_gene': 'MRM2', 'score': 20.7}, {'connected_gene': 'SNX8', 'score': 13.84}, {'connected_gene': 'NUDT1', 'score': 12.46}, {'connected_gene': 'MAD1L1', 'score': 12.45}, {'connected_gene': 'LFNG', 'score': 4.9}, {'connected_gene': 'GC07P002305', 'score': 0.44}, {'connected_gene': 'IMMP1LP3', 'score': 0.39}]
chr7 GH07I002261 2261166 2262773 1.11 [{'connected_gene': 'MRM2', 'score': 8.26}, {'connected_gene': 'SNX8', 'score': 6.87}, {'connected_gene': 'LFNG', 'score': 2.68}, {'connected_gene': 'MIR6836', 'score': 0.77}, {'connected_gene': 'GC07P002270', 'score': 0.44}]
chr7 GH07I002253 2251858 2252655 0.38 [{'connected_gene': 'MRM2', 'score': 8.04}, {'connected_gene': 'SNX8', 'score': 7.91}, {'connected_gene': 'PIR41829', 'score': 0.77}, {'connected_gene': 'MIR6836', 'score': 0.44}]
chr7 GH07I001943 1943774 1944185 0.57 [{'connected_gene': 'MRM2', 'score': 10.02}, {'connected_gene': 'TMEM184A', 'score': 6.29}, {'connected_gene': 'SNX8', 'score': 4.21}, {'connected_gene': 'GC07P001949', 'score': 0.44}, {'connected_gene': 'GC07M001848', 'score': 0.26}, {'connected_gene': 'MAD1L1', 'score': 0.06}]
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 GH07I002279 2279311 2282974 1 [{'connected_gene': 'SNX8', 'score': 7.27}, {'connected_gene': 'MICALL2', 'score': 6.58}, {'connected_gene': 'IMMP1LP3', 'score': 0.44}, {'connected_gene': 'GC07P002270', 'score': 0.39}]
chr7 GH07I002327 2327093 2327166 0.22 [{'connected_gene': 'SNX8', 'score': 4.77}, {'connected_gene': 'LFNG', 'score': 1.3}, {'connected_gene': 'GC07M002345', 'score': 0.34}, {'connected_gene': 'GC07P002305', '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 GH07I002323 2323327 2323628 0.33 [{'connected_gene': 'SNX8', 'score': 14.29}, {'connected_gene': 'MRM2', 'score': 12.19}, {'connected_gene': 'NUDT1', 'score': 12.19}, {'connected_gene': 'MAD1L1', 'score': 12.18}, {'connected_gene': 'AMZ1', 'score': 1.62}, {'connected_gene': 'GC07P002305', 'score': 0.37}, {'connected_gene': 'GC07M002345', 'score': 0.34}]
chr7 GH07I002306 2306646 2308744 0.99 [{'connected_gene': 'SNX8', 'score': 14.63}, {'connected_gene': 'MRM2', 'score': 12.43}, {'connected_gene': 'NUDT1', 'score': 12.43}, {'connected_gene': 'MAD1L1', 'score': 12.42}, {'connected_gene': 'GC07P002305', 'score': 0.77}, {'connected_gene': 'GC07M002345', 'score': 0.26}]
chr7 GH07I002792 2792171 2793600 1.1 [{'connected_gene': 'GNA12', 'score': 20.11}, {'connected_gene': 'LFNG', 'score': 9.04}, {'connected_gene': 'SNX8', 'score': 2.44}, {'connected_gene': 'PIR32151', 'score': 0.31}, {'connected_gene': 'GC07M002729', 'score': 0.21}]
chr7 GH07I002795 2795172 2797793 1.06 [{'connected_gene': 'GNA12', 'score': 22.03}, {'connected_gene': 'LFNG', 'score': 4.28}, {'connected_gene': 'SNX8', 'score': 1.21}, {'connected_gene': 'PIR32151', 'score': 0.34}, {'connected_gene': 'GC07M002729', 'score': 0.2}]
chr7 GH07I002772 2772407 2774299 1.46 [{'connected_gene': 'GNA12', 'score': 23.48}, {'connected_gene': 'LFNG', 'score': 10.74}, {'connected_gene': 'AMZ1', 'score': 7.16}, {'connected_gene': 'SNX8', 'score': 1.46}, {'connected_gene': 'GC07M002729', 'score': 0.26}, {'connected_gene': 'PIR32151', 'score': 0.25}]
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 GH07I002693 2693923 2694401 1.06 [{'connected_gene': 'AMZ1', 'score': 50.46}, {'connected_gene': 'LFNG', 'score': 6.43}, {'connected_gene': 'GNA12', 'score': 2.05}, {'connected_gene': 'SNX8', 'score': 1.4}, {'connected_gene': 'GC07P002723', 'score': 0.31}]
chr7 GH07I002287 2287868 2290305 0.56 [{'connected_gene': 'IMMP1LP3', 'score': 550.77}, {'connected_gene': 'SNX8', 'score': 8.24}, {'connected_gene': 'GC07P002305', 'score': 0.37}]
chr7 GH07I002113 2113627 2114734 1.05 [{'connected_gene': 'LOC105375127', 'score': 550.77}, {'connected_gene': 'LFNG', 'score': 6.17}, {'connected_gene': 'MRM2', 'score': 5.4}, {'connected_gene': 'SNX8', 'score': 2.39}, {'connected_gene': 'GC07P002128', 'score': 0.39}, {'connected_gene': 'MAD1L1', 'score': 0.13}]
chr7 GH07I002258 2258735 2259731 0.89 [{'connected_gene': 'MIR6836', 'score': 550.77}, {'connected_gene': 'SNX8', 'score': 1.77}, {'connected_gene': 'LFNG', 'score': 1.51}, {'connected_gene': 'GC07P002270', 'score': 0.39}]
chr7 GH07I002260 2260926 2261115 0.69 [{'connected_gene': 'MIR6836', 'score': 0.77}, {'connected_gene': 'GC07P002270', 'score': 0.44}, {'connected_gene': 'SNX8', 'score': 0.16}]
chr7 GH07I001921 1921919 1922869 1.37 [{'connected_gene': 'LOC100127955', 'score': 11.32}, {'connected_gene': 'MRM2', 'score': 9.17}, {'connected_gene': 'MAFK', 'score': 3.4}, {'connected_gene': 'SNX8', 'score': 1.52}, {'connected_gene': 'GC07M001848', 'score': 0.34}, {'connected_gene': 'GC07P001949', 'score': 0.31}, {'connected_gene': 'MAD1L1', 'score': 0.06}]
chr7 GH07I002357 2357226 2357515 0.72 [{'connected_gene': 'GC07M002353', 'score': 550.77}, {'connected_gene': 'EIF3B', 'score': 0.77}, {'connected_gene': 'SNX8', 'score': 0.77}]
chr7 GH07I002347 2347801 2348755 0.88 [{'connected_gene': 'GC07M002345', 'score': 550.77}, {'connected_gene': 'EIF3B', 'score': 10.24}, {'connected_gene': 'SNX8', 'score': 0.44}]
chr7 GH07I002304 2304459 2305398 1.1 [{'connected_gene': 'GC07P002305', 'score': 550.77}, {'connected_gene': 'MRM2', 'score': 19.43}, {'connected_gene': 'NUDT1', 'score': 12.45}, {'connected_gene': 'MAD1L1', 'score': 12.44}, {'connected_gene': 'IMMP1LP3', 'score': 0.37}, {'connected_gene': 'SNX8', 'score': 0.25}]
chr7 GH07I002247 2247496 2250457 0.94 [{'connected_gene': 'PIR41829', 'score': 550.77}, {'connected_gene': 'MRM2', 'score': 8.9}, {'connected_gene': 'SNX8', 'score': 7.6}, {'connected_gene': 'PIR43450', 'score': 0.44}, {'connected_gene': 'NUDT1', 'score': 0.44}]
chr7 GH07I002252 2251646 2251795 0.2 [{'connected_gene': 'PIR41829', 'score': 550.77}, {'connected_gene': 'MRM2', 'score': 7.86}, {'connected_gene': 'MIR6836', 'score': 0.44}, {'connected_gene': 'SNX8', 'score': 0.15}]
chr7 GH07I002269 2269166 2270895 0.77 [{'connected_gene': 'GC07P002270', 'score': 550.77}, {'connected_gene': 'SNX8', 'score': 8.68}, {'connected_gene': 'MIR6836', 'score': 0.39}]
chr7 GH07I002251 2251446 2251595 0.2 [{'connected_gene': 'PIR41829', 'score': 550.77}, {'connected_gene': 'SNX8', 'score': 9.12}, {'connected_gene': 'MIR6836', 'score': 0.44}]
chr7 GH07I002307 2306086 2306235 0.31 [{'connected_gene': 'GC07P002305', 'score': 550.77}, {'connected_gene': 'GC07M002345', 'score': 0.26}, {'connected_gene': 'SNX8', 'score': 0.25}]