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
ENST00000431643 [[2393720, 2393830], [2394868, 2395055], [2400344, 2400537], [2402279, 2402399], [2402704, 2402762], [2403266, 2403395], [2404006, 2404164], [2405951, 2406070]] [[2402708, 2402762], [2403266, 2403395], [2404006, 2404164], [2405951, 2406070]]
ENST00000360876 [[2394500, 2395055], [2400344, 2400537], [2402279, 2402399], [2402704, 2402762], [2403266, 2403395], [2404006, 2404164], [2405951, 2406083], [2406159, 2406226], [2406633, 2406680], [2409106, 2409317], [2411411, 2411484], [2412307, 2412430], [2414162, 2414241], [2415023, 2415162], [2416584, 2416710], [2418323, 2418401], [2418768, 2418877], [2419028, 2419146], [2419838, 2420378]] [[2394556, 2395055], [2400344, 2400537], [2402279, 2402399], [2402704, 2402762], [2403266, 2403395], [2404006, 2404164], [2405951, 2406083], [2406159, 2406226], [2406633, 2406680], [2409106, 2409317], [2411411, 2411484], [2412307, 2412430], [2414162, 2414241], [2415023, 2415162], [2416584, 2416710], [2418323, 2418401], [2418768, 2418877], [2419028, 2419132]]
ENST00000413917 [[2394501, 2394751], [2394868, 2395055], [2400344, 2400537], [2402279, 2402399], [2402704, 2402762], [2403266, 2403395], [2404006, 2404031]] [[2394556, 2394751], [2394868, 2395055], [2400344, 2400537], [2402279, 2402399], [2402704, 2402762], [2403266, 2403395], [2404006, 2404031]]
ENST00000397011 [[2394516, 2395055], [2400344, 2400537], [2402279, 2402399], [2402704, 2402762], [2403266, 2403395], [2404006, 2404164], [2405951, 2406083], [2406159, 2406226], [2406633, 2406680], [2409106, 2409317], [2411411, 2411484], [2412307, 2412430], [2414162, 2414241], [2415023, 2415162], [2416584, 2416710], [2418323, 2418401], [2418768, 2418877], [2419028, 2419146], [2419913, 2420380]] [[2394556, 2395055], [2400344, 2400537], [2402279, 2402399], [2402704, 2402762], [2403266, 2403395], [2404006, 2404164], [2405951, 2406083], [2406159, 2406226], [2406633, 2406680], [2409106, 2409317], [2411411, 2411484], [2412307, 2412430], [2414162, 2414241], [2415023, 2415162], [2416584, 2416710], [2418323, 2418401], [2418768, 2418877], [2419028, 2419132]]
ENST00000463229 [[2402655, 2402762], [2403266, 2403395], [2404006, 2404164], [2405951, 2406083], [2406633, 2406659]] None
ENST00000463026 [[2403958, 2404164], [2405951, 2406378]] None
ENST00000468250 [[2403958, 2404164], [2405951, 2406226], [2406633, 2406754]] None
ENST00000466199 [[2406164, 2406226], [2406633, 2406680], [2409106, 2409317], [2411411, 2411825]] None
ENST00000475415 [[2412752, 2415162], [2416584, 2416710], [2418323, 2418877], [2419028, 2419146], [2419838, 2420375]] None
ENST00000468611 [[2415609, 2416710], [2418323, 2418401], [2418768, 2418877], [2419028, 2419146], [2419913, 2420375]] None
ENST00000465670 [[2417458, 2418877], [2419028, 2420375]] None
ENST00000494658 [[2418321, 2418401], [2418768, 2418877], [2419028, 2419476]] None
NM_003751 [[2394473, 2395055], [2400344, 2400537], [2402279, 2402399], [2402704, 2402762], [2403266, 2403395], [2404006, 2404164], [2405951, 2406083], [2406159, 2406226], [2406633, 2406680], [2409106, 2409317], [2411411, 2411484], [2412307, 2412430], [2414162, 2414241], [2415023, 2415162], [2416584, 2416710], [2418323, 2418401], [2418768, 2418877], [2419028, 2419146], [2419913, 2420380]] [[2394556, 2395055], [2400344, 2400537], [2402279, 2402399], [2402704, 2402762], [2403266, 2403395], [2404006, 2404164], [2405951, 2406083], [2406159, 2406226], [2406633, 2406680], [2409106, 2409317], [2411411, 2411484], [2412307, 2412430], [2414162, 2414241], [2415023, 2415162], [2416584, 2416710], [2418323, 2418401], [2418768, 2418877], [2419028, 2419132]]
NM_001037283 [[2394473, 2395055], [2400344, 2400537], [2402279, 2402399], [2402704, 2402762], [2403266, 2403395], [2404006, 2404164], [2405951, 2406083], [2406159, 2406226], [2406633, 2406680], [2409106, 2409317], [2411411, 2411484], [2412307, 2412430], [2414162, 2414241], [2415023, 2415162], [2416584, 2416710], [2418323, 2418401], [2418768, 2418877], [2419028, 2419146], [2419838, 2420380]] [[2394556, 2395055], [2400344, 2400537], [2402279, 2402399], [2402704, 2402762], [2403266, 2403395], [2404006, 2404164], [2405951, 2406083], [2406159, 2406226], [2406633, 2406680], [2409106, 2409317], [2411411, 2411484], [2412307, 2412430], [2414162, 2414241], [2415023, 2415162], [2416584, 2416710], [2418323, 2418401], [2418768, 2418877], [2419028, 2419132]]
Promoter
Chrom Start End Description
chr7 2393714 2393749 CAGE_peak_2_at_EIF3B_5end
chr7 2394445 2394550 CAGE_peak_1_at_EIF3B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I001932 1932725 1932874 0.2 [{'connected_gene': 'EIF3B', 'score': 5.16}, {'connected_gene': 'GC07P001949', 'score': 0.37}, {'connected_gene': 'GC07M001848', 'score': 0.29}, {'connected_gene': 'MAD1L1', 'score': 0.06}]
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 GH07I002390 2390373 2391081 0.66 [{'connected_gene': 'EIF3B', 'score': 6.12}, {'connected_gene': 'GC07M002393', 'score': 0.77}, {'connected_gene': 'LOC645357', 'score': 0.44}]
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 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 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 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 GH07I001580 1579845 1579994 0.8 [{'connected_gene': 'MAFK', 'score': 12.27}, {'connected_gene': 'EIF3B', 'score': 9.71}, {'connected_gene': 'PSMG3', 'score': 0.44}, {'connected_gene': 'PSMG3-AS1', 'score': 0.44}, {'connected_gene': 'LOC105375122', 'score': 0.39}]
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 GH07I001529 1529572 1540052 2.61 [{'connected_gene': 'MAFK', 'score': 563.5}, {'connected_gene': 'LOC100128653', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 18.63}, {'connected_gene': 'TMEM184A', 'score': 16.66}, {'connected_gene': 'DNAAF5', 'score': 12.18}, {'connected_gene': 'SUN1', 'score': 11.92}, {'connected_gene': 'EIF3B', 'score': 10.45}, {'connected_gene': 'ZFAND2A', 'score': 7.06}, {'connected_gene': 'PSMG3-AS1', 'score': 6.2}]
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 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 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 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 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 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 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 GH07I001453 1453934 1456433 1.2 [{'connected_gene': 'INTS1', 'score': 31.88}, {'connected_gene': 'ENSG00000225981', 'score': 15.7}, {'connected_gene': 'EIF3B', 'score': 10.44}, {'connected_gene': 'MICALL2', 'score': 0.77}, {'connected_gene': 'ENSG00000233082', 'score': 0.09}]
chr7 GH07I001525 1525877 1527000 0.98 [{'connected_gene': 'INTS1', 'score': 16.47}, {'connected_gene': 'DNAAF5', 'score': 11.6}, {'connected_gene': 'EIF3B', 'score': 10.93}, {'connected_gene': 'SUN1', 'score': 9.93}, {'connected_gene': 'MAFK', 'score': 0.77}, {'connected_gene': 'ENSG00000231927', 'score': 0.37}]
chr7 GH07I001502 1502505 1508977 2.58 [{'connected_gene': 'INTS1', 'score': 588.59}, {'connected_gene': 'DNAAF5', 'score': 11.6}, {'connected_gene': 'EIF3B', 'score': 10.93}, {'connected_gene': 'SUN1', 'score': 9.93}, {'connected_gene': 'ENSG00000231927', 'score': 0.77}]
chr7 GH07I002553 2553963 2556639 2 [{'connected_gene': 'BRAT1', 'score': 571.41}, {'connected_gene': 'EIF3B', 'score': 10.99}, {'connected_gene': 'PIR48387', 'score': 0.39}]
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 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 GH07I001881 1881815 1884085 1.09 [{'connected_gene': 'LOC100127955', 'score': 11.84}, {'connected_gene': 'MRM2', 'score': 9.75}, {'connected_gene': 'NUDT1', 'score': 5.82}, {'connected_gene': 'MAD1L1', 'score': 5.27}, {'connected_gene': 'EIF3B', 'score': 5.15}, {'connected_gene': 'GC07M001848', 'score': 0.37}, {'connected_gene': 'MIR4655', 'score': 0.28}]
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 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 GH07I002393 2393201 2393600 0.38 [{'connected_gene': 'GC07M002393', 'score': 550.77}, {'connected_gene': 'LOC402634', 'score': 550.77}, {'connected_gene': 'EIF3B', 'score': 5.03}, {'connected_gene': 'LOC645357', 'score': 0.39}]

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