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
ENST00000389048 [[29415639, 29416788], [29419635, 29419726], [29420407, 29420542], [29430036, 29430138], [29432651, 29432744], [29436849, 29436947], [29443571, 29443701], [29445209, 29445274], [29445382, 29445473], [29446207, 29446394], [29448326, 29448431], [29449787, 29449940], [29450439, 29450538], [29451749, 29451932], [29455169, 29455314], [29456430, 29456562], [29462545, 29462696], [29473970, 29474133], [29497964, 29498093], [29498267, 29498362], [29519753, 29519923], [29541169, 29541270], [29543616, 29543748], [29551215, 29551347], [29606597, 29606725], [29754780, 29754982], [29917715, 29917880], [29940443, 29940563], [30142858, 30144432]] [[29416089, 29416788], [29419635, 29419726], [29420407, 29420542], [29430036, 29430138], [29432651, 29432744], [29436849, 29436947], [29443571, 29443701], [29445209, 29445274], [29445382, 29445473], [29446207, 29446394], [29448326, 29448431], [29449787, 29449940], [29450439, 29450538], [29451749, 29451932], [29455169, 29455314], [29456430, 29456562], [29462545, 29462696], [29473970, 29474133], [29497964, 29498093], [29498267, 29498362], [29519753, 29519923], [29541169, 29541270], [29543616, 29543748], [29551215, 29551347], [29606597, 29606725], [29754780, 29754982], [29917715, 29917880], [29940443, 29940563], [30142858, 30143525]]
ENST00000431873 [[29416089, 29416650], [29430910, 29430911], [29940439, 29940563], [30142858, 30143525]] [[29416089, 29416650], [29430910, 29430911], [29940439, 29940563], [30142858, 30143525]]
ENST00000453137 [[29443735, 29444103], [29445209, 29445274], [29445382, 29445473], [29446207, 29446260]] [[29443853, 29444103], [29445209, 29445274], [29445382, 29445473], [29446207, 29446260]]
ENST00000498037 [[29509275, 29509382], [29509619, 29509700], [29519753, 29519923], [29541169, 29541270], [29541976, 29542077]] None
NM_004304 [[29415639, 29416788], [29419635, 29419726], [29420407, 29420542], [29430036, 29430138], [29432651, 29432744], [29436849, 29436947], [29443571, 29443701], [29445209, 29445274], [29445382, 29445473], [29446207, 29446394], [29448326, 29448431], [29449787, 29449940], [29450439, 29450538], [29451749, 29451932], [29455169, 29455314], [29456430, 29456562], [29462545, 29462696], [29473970, 29474133], [29497964, 29498093], [29498267, 29498362], [29519753, 29519923], [29541169, 29541270], [29543616, 29543748], [29551215, 29551347], [29606597, 29606725], [29754780, 29754982], [29917715, 29917880], [29940443, 29940563], [30142858, 30144477]] [[29416089, 29416788], [29419635, 29419726], [29420407, 29420542], [29430036, 29430138], [29432651, 29432744], [29436849, 29436947], [29443571, 29443701], [29445209, 29445274], [29445382, 29445473], [29446207, 29446394], [29448326, 29448431], [29449787, 29449940], [29450439, 29450538], [29451749, 29451932], [29455169, 29455314], [29456430, 29456562], [29462545, 29462696], [29473970, 29474133], [29497964, 29498093], [29498267, 29498362], [29519753, 29519923], [29541169, 29541270], [29543616, 29543748], [29551215, 29551347], [29606597, 29606725], [29754780, 29754982], [29917715, 29917880], [29940443, 29940563], [30142858, 30143525]]
Promoter
Chrom Start End Description
chr2 29446678 29446695 CAGE_peak_3_at_ALK_5end
chr2 29542059 29542081 CAGE_peak_7_at_ALK_5end
chr2 30143103 30143109 CAGE_peak_22_at_ALK_5end
chr2 30143599 30143606 CAGE_peak_15_at_ALK_5end
chr2 30143685 30143694 CAGE_peak_11_at_ALK_5end
chr2 30143749 30143756 CAGE_peak_16_at_ALK_5end
chr2 30143760 30143777 CAGE_peak_5_at_ALK_5end
chr2 30143805 30143814 CAGE_peak_6_at_ALK_5end
chr2 30143819 30143830 CAGE_peak_8_at_ALK_5end
chr2 30143841 30143861 CAGE_peak_4_at_ALK_5end
chr2 30144040 30144047 CAGE_peak_19_at_ALK_5end
chr2 30144102 30144111 CAGE_peak_9_at_ALK_5end
chr2 30144125 30144135 CAGE_peak_12_at_ALK_5end
chr2 30144214 30144224 CAGE_peak_14_at_ALK_5end
chr2 30144229 30144240 CAGE_peak_10_at_ALK_5end
chr2 30144445 30144457 CAGE_peak_1_at_ALK_5end
chr2 30144471 30144482 CAGE_peak_2_at_ALK_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I029212 29212443 29212559 0.22 [{'connected_gene': 'SPDYA', 'score': 3.37}, {'connected_gene': 'GC02P029290', 'score': 0.18}, {'connected_gene': 'CLIP4', 'score': 0.14}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029259 29259755 29260966 0.49 [{'connected_gene': 'ALK', 'score': 9.31}, {'connected_gene': 'GC02P029290', 'score': 0.31}, {'connected_gene': 'CLIP4', 'score': 0.1}]
chr2 GH02I029281 29281401 29281965 0.66 [{'connected_gene': 'ALK', 'score': 8.52}, {'connected_gene': 'GC02P029290', 'score': 0.44}, {'connected_gene': 'CLIP4', 'score': 0.09}]
chr2 GH02I029665 29665504 29665839 0.23 [{'connected_gene': 'ALK', 'score': 4.6}, {'connected_gene': 'RN7SL516P', 'score': 0.37}, {'connected_gene': 'GC02P029649', 'score': 0.37}]
chr2 GH02I029426 29426284 29426330 0.22 [{'connected_gene': 'ALK', 'score': 20.67}, {'connected_gene': 'LOC105374389', 'score': 0.25}, {'connected_gene': 'GC02P029336', 'score': 0.17}, {'connected_gene': 'GC02P029337', 'score': 0.17}]
chr2 GH02I029451 29451575 29451688 0.22 [{'connected_gene': 'ALK', 'score': 16.16}, {'connected_gene': 'LOC105374389', 'score': 0.34}, {'connected_gene': 'GC02P029336', 'score': 0.14}, {'connected_gene': 'GC02P029337', 'score': 0.14}]
chr2 GH02I029447 29447581 29447912 0.33 [{'connected_gene': 'ALK', 'score': 13.28}, {'connected_gene': 'LOC105374389', 'score': 0.31}, {'connected_gene': 'GC02P029336', 'score': 0.14}, {'connected_gene': 'GC02P029337', 'score': 0.14}]
chr2 GH02I029427 29427781 29428113 0.22 [{'connected_gene': 'ALK', 'score': 25.23}, {'connected_gene': 'LOC105374389', 'score': 0.25}, {'connected_gene': 'GC02P029336', 'score': 0.16}, {'connected_gene': 'GC02P029337', 'score': 0.16}]
chr2 GH02I029522 29522812 29523893 1.04 [{'connected_gene': 'ALK', 'score': 5.43}, {'connected_gene': 'LOC105374389', 'score': 0.25}, {'connected_gene': 'GC02P029649', 'score': 0.13}]
chr2 GH02I029580 29580488 29580887 0.48 [{'connected_gene': 'ALK', 'score': 2.21}, {'connected_gene': 'GC02P029649', 'score': 0.2}, {'connected_gene': 'LOC105374389', 'score': 0.14}]
chr2 GH02I029613 29613905 29614146 0.5 [{'connected_gene': 'ALK', 'score': 58.68}, {'connected_gene': 'ENSG00000197644', 'score': 9.63}, {'connected_gene': 'GC02P029649', 'score': 0.28}, {'connected_gene': 'LOC105374389', 'score': 0.12}]
chr2 GH02I029528 29528143 29530033 1.09 [{'connected_gene': 'ALK', 'score': 23.43}, {'connected_gene': 'LOC105374389', 'score': 0.23}, {'connected_gene': 'GC02P029649', 'score': 0.13}]
chr2 GH02I030026 30026195 30026404 0.52 [{'connected_gene': 'ALK', 'score': 11.22}, {'connected_gene': 'GC02P030054', 'score': 0.31}, {'connected_gene': 'LOC101929418', 'score': 0.13}]
chr2 GH02I029314 29314401 29316000 1.05 [{'connected_gene': 'ALK', 'score': 15.86}, {'connected_gene': 'ENSG00000197644', 'score': 8.97}, {'connected_gene': 'LOC101929386', 'score': 0.77}, {'connected_gene': 'GC02P029290', 'score': 0.34}]
chr2 GH02I029885 29885560 29885901 0.23 [{'connected_gene': 'ALK', 'score': 13.92}, {'connected_gene': 'ENSG00000230737', 'score': 0.77}, {'connected_gene': 'GC02M029830', 'score': 0.29}]
chr2 GH02I029884 29884880 29885264 0.23 [{'connected_gene': 'ALK', 'score': 8.31}, {'connected_gene': 'ENSG00000230737', 'score': 0.44}, {'connected_gene': 'GC02M029830', 'score': 0.29}]
chr2 GH02I029918 29918349 29918618 0.22 [{'connected_gene': 'ALK', 'score': 61.01}, {'connected_gene': 'ENSG00000230737', 'score': 11.67}, {'connected_gene': 'ENSG00000197644', 'score': 0.37}]
chr2 GH02I029919 29919985 29922234 1.44 [{'connected_gene': 'ALK', 'score': 550.77}, {'connected_gene': 'ENSG00000197644', 'score': 0.34}]
chr2 GH02I029196 29196915 29197064 0.73 [{'connected_gene': 'TOGARAM2', 'score': 11.99}, {'connected_gene': 'GC02P029290', 'score': 0.16}, {'connected_gene': 'CLIP4', 'score': 0.15}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029201 29201980 29202704 0.2 [{'connected_gene': 'TOGARAM2', 'score': 11.59}, {'connected_gene': 'GC02P029290', 'score': 0.17}, {'connected_gene': 'CLIP4', 'score': 0.15}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029723 29723068 29723864 0.67 [{'connected_gene': 'RN7SL516P', 'score': 0.26}, {'connected_gene': 'GC02M029830', 'score': 0.13}, {'connected_gene': 'ALK', 'score': 0.08}]
chr2 GH02I029700 29700675 29700824 0.2 [{'connected_gene': 'RN7SL516P', 'score': 0.37}, {'connected_gene': 'GC02M029830', 'score': 0.1}, {'connected_gene': 'ALK', 'score': 0.07}]
chr2 GH02I029747 29747487 29749264 0.78 [{'connected_gene': 'RN7SL516P', 'score': 0.2}, {'connected_gene': 'GC02M029830', 'score': 0.15}, {'connected_gene': 'ALK', 'score': 0.09}]
chr2 GH02I029526 29526207 29527238 0.38 [{'connected_gene': 'LOC105374389', 'score': 0.23}, {'connected_gene': 'GC02P029649', 'score': 0.13}, {'connected_gene': 'ALK', 'score': 0.05}]
chr2 GH02I029413 29413229 29413493 0.22 [{'connected_gene': 'LOC105374389', 'score': 0.21}, {'connected_gene': 'GC02P029336', 'score': 0.18}, {'connected_gene': 'GC02P029337', 'score': 0.18}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029530 29530455 29530604 0.4 [{'connected_gene': 'LOC105374389', 'score': 0.22}, {'connected_gene': 'GC02P029649', 'score': 0.13}, {'connected_gene': 'ALK', 'score': 0.05}]
chr2 GH02I029421 29421395 29421544 0.31 [{'connected_gene': 'LOC105374389', 'score': 0.23}, {'connected_gene': 'GC02P029336', 'score': 0.18}, {'connected_gene': 'GC02P029337', 'score': 0.18}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029508 29508858 29510707 0.2 [{'connected_gene': 'LOC105374389', 'score': 0.29}, {'connected_gene': 'GC02P029649', 'score': 0.12}, {'connected_gene': 'ALK', 'score': 0.05}]
chr2 GH02I029501 29501282 29503923 0.31 [{'connected_gene': 'LOC105374389', 'score': 0.31}, {'connected_gene': 'GC02P029649', 'score': 0.11}, {'connected_gene': 'ALK', 'score': 0.05}]
chr2 GH02I029462 29462222 29464449 0.31 [{'connected_gene': 'LOC105374389', 'score': 0.39}, {'connected_gene': 'GC02P029336', 'score': 0.13}, {'connected_gene': 'GC02P029337', 'score': 0.13}, {'connected_gene': 'ALK', 'score': 0.05}]
chr2 GH02I029494 29494871 29497205 0.2 [{'connected_gene': 'LOC105374389', 'score': 0.34}, {'connected_gene': 'GC02P029649', 'score': 0.1}, {'connected_gene': 'ALK', 'score': 0.04}]
chr2 GH02I029316 29316801 29318600 1.18 [{'connected_gene': 'LOC101929386', 'score': 550.77}, {'connected_gene': 'ALK', 'score': 26.86}, {'connected_gene': 'ENSG00000197644', 'score': 8.97}, {'connected_gene': 'GC02P029290', 'score': 0.31}]
chr2 GH02I029233 29233555 29233704 0.52 [{'connected_gene': 'ENSG00000197644', 'score': 9.62}, {'connected_gene': 'GC02P029290', 'score': 0.22}, {'connected_gene': 'CLIP4', 'score': 0.12}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029228 29228375 29228524 0.31 [{'connected_gene': 'GC02P029290', 'score': 0.21}, {'connected_gene': 'CLIP4', 'score': 0.12}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029262 29262995 29263144 0.57 [{'connected_gene': 'GC02P029290', 'score': 0.31}, {'connected_gene': 'CLIP4', 'score': 0.1}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029263 29262695 29262859 0.56 [{'connected_gene': 'GC02P029290', 'score': 0.31}, {'connected_gene': 'CLIP4', 'score': 0.1}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029647 29647424 29647796 0.25 [{'connected_gene': 'GC02P029649', 'score': 550.77}, {'connected_gene': 'ALK', 'score': 17.08}, {'connected_gene': 'LOC105374389', 'score': 0.09}]
chr2 GH02I029988 29988567 29988625 0.22 [{'connected_gene': 'GC02P030054', 'score': 0.2}, {'connected_gene': 'ALK', 'score': 0.2}, {'connected_gene': 'LOC101929418', 'score': 0.1}]
chr2 GH02I029290 29290455 29290989 0.38 [{'connected_gene': 'GC02P029290', 'score': 550.77}, {'connected_gene': 'ALK', 'score': 20.84}, {'connected_gene': 'LOC101929386', 'score': 0.31}]
chr2 GH02I029662 29662902 29664176 0.43 [{'connected_gene': 'GC02P029649', 'score': 0.39}, {'connected_gene': 'RN7SL516P', 'score': 0.37}, {'connected_gene': 'ALK', 'score': 0.07}]
chr2 GH02I029656 29656517 29656881 0.22 [{'connected_gene': 'GC02P029649', 'score': 0.44}, {'connected_gene': 'RN7SL516P', 'score': 0.34}, {'connected_gene': 'ALK', 'score': 0.07}]
chr2 GH02I029627 29627001 29627946 0.58 [{'connected_gene': 'GC02P029649', 'score': 0.34}, {'connected_gene': 'LOC105374389', 'score': 0.1}, {'connected_gene': 'ALK', 'score': 0.06}]
chr2 GH02I029603 29603435 29603584 0.31 [{'connected_gene': 'GC02P029649', 'score': 0.25}, {'connected_gene': 'LOC105374389', 'score': 0.13}, {'connected_gene': 'ALK', 'score': 0.06}]
chr2 GH02I029560 29560466 29560507 0.22 [{'connected_gene': 'GC02P029649', 'score': 0.17}, {'connected_gene': 'LOC105374389', 'score': 0.17}, {'connected_gene': 'ALK', 'score': 0.05}]
chr2 GH02I029398 29398875 29399024 0.6 [{'connected_gene': 'GC02P029336', 'score': 0.21}, {'connected_gene': 'GC02P029337', 'score': 0.21}, {'connected_gene': 'LOC105374389', 'score': 0.18}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029361 29361415 29361564 0.31 [{'connected_gene': 'GC02P029336', 'score': 0.34}, {'connected_gene': 'GC02P029337', 'score': 0.34}, {'connected_gene': 'LOC105374389', 'score': 0.14}, {'connected_gene': 'ALK', 'score': 0.03}]
chr2 GH02I029517 29517845 29520231 0.85 [{'connected_gene': 'ENSG00000197644', 'score': 9.21}, {'connected_gene': 'LOC105374389', 'score': 0.26}, {'connected_gene': 'GC02P029649', 'score': 0.12}, {'connected_gene': 'ALK', 'score': 0.05}]
chr2 GH02I029605 29605525 29607190 0.43 [{'connected_gene': 'GC02P029649', 'score': 0.26}, {'connected_gene': 'LOC105374389', 'score': 0.12}, {'connected_gene': 'ALK', 'score': 0.06}]
chr2 GH02I029325 29325301 29326359 0.31 [{'connected_gene': 'GC02P029328', 'score': 0.77}, {'connected_gene': 'LOC101929386', 'score': 0.44}, {'connected_gene': 'ALK', 'score': 0.03}]

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