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
ENST00000512716 [[82380632, 82380668], [82442565, 82442699], [82745670, 82745724], [82836463, 82836511], [82965153, 82965397]] [[82380632, 82380662]]
ENST00000509081 [[82347546, 82348946], [82353452, 82353525], [82354993, 82355117], [82355792, 82355888], [82361987, 82362083], [82363450, 82363530], [82366679, 82366782], [82366896, 82366992], [82368657, 82368732], [82369222, 82369435], [82377804, 82377942], [82378652, 82378775], [82380485, 82380668], [82392174, 82392390]] [[82348921, 82348946], [82353452, 82353525], [82354993, 82355117], [82355792, 82355888], [82361987, 82362083], [82363450, 82363530], [82366679, 82366782], [82366896, 82366992], [82368657, 82368732], [82369222, 82369435], [82377804, 82377942], [82378652, 82378775], [82380485, 82380662]]
ENST00000264400 [[82348218, 82348946], [82353452, 82353525], [82354993, 82355117], [82355792, 82355888], [82361987, 82362083], [82363450, 82363530], [82366679, 82366782], [82366896, 82366992], [82368657, 82368732], [82369222, 82369438], [82377804, 82377942], [82378652, 82378775], [82380485, 82380668], [82392923, 82393069]] [[82348921, 82348946], [82353452, 82353525], [82354993, 82355117], [82355792, 82355888], [82361987, 82362083], [82363450, 82363530], [82366679, 82366782], [82366896, 82366992], [82368657, 82368732], [82369222, 82369438], [82377804, 82377942], [82378652, 82378775], [82380485, 82380662]]
ENST00000335927 [[82348602, 82348946], [82353452, 82353525], [82354993, 82355117], [82355792, 82355888], [82361987, 82362083], [82363450, 82363530], [82366679, 82366782], [82366896, 82366992], [82368657, 82368732], [82369222, 82369435], [82377804, 82377942], [82380485, 82380668], [82392923, 82393058]] [[82348921, 82348946], [82353452, 82353525], [82354993, 82355117], [82355792, 82355888], [82361987, 82362083], [82363450, 82363530], [82366679, 82366782], [82366896, 82366992], [82368657, 82368732], [82369222, 82369435], [82377804, 82377942], [82380485, 82380662]]
ENST00000504863 [[82355829, 82355888], [82361987, 82362083], [82363450, 82363530], [82366679, 82366782], [82366896, 82366992], [82368657, 82368732], [82369222, 82369435], [82392923, 82393061]] [[82355829, 82355888], [82361987, 82362083], [82363450, 82363530], [82366679, 82366782], [82366896, 82366992], [82368657, 82368732], [82369222, 82369411]]
ENST00000436139 [[82372046, 82377942], [82378652, 82378775], [82380485, 82380668], [82392923, 82393044]] [[82377609, 82377942], [82378652, 82378775], [82380485, 82380662]]
ENST00000514889 [[82373182, 82373588], [82377804, 82377942], [82378652, 82378756]] None
ENST00000507538 [[82380136, 82380668], [82392923, 82393082]] None
NM_152545 [[82347546, 82348946], [82353452, 82353525], [82354993, 82355117], [82355792, 82355888], [82361987, 82362083], [82363450, 82363530], [82366679, 82366782], [82366896, 82366992], [82368657, 82368732], [82369222, 82369438], [82377804, 82377942], [82378652, 82378775], [82380485, 82380668], [82392923, 82393082]] [[82348921, 82348946], [82353452, 82353525], [82354993, 82355117], [82355792, 82355888], [82361987, 82362083], [82363450, 82363530], [82366679, 82366782], [82366896, 82366992], [82368657, 82368732], [82369222, 82369438], [82377804, 82377942], [82378652, 82378775], [82380485, 82380662]]
NM_001300735 [[82347546, 82348946], [82353452, 82353525], [82354993, 82355117], [82355792, 82355888], [82361987, 82362083], [82363450, 82363530], [82366679, 82366782], [82366896, 82366992], [82368657, 82368732], [82369222, 82369435], [82377804, 82377942], [82378652, 82378775], [82380485, 82380668], [82392923, 82393082]] [[82348921, 82348946], [82353452, 82353525], [82354993, 82355117], [82355792, 82355888], [82361987, 82362083], [82363450, 82363530], [82366679, 82366782], [82366896, 82366992], [82368657, 82368732], [82369222, 82369435], [82377804, 82377942], [82378652, 82378775], [82380485, 82380662]]
NM_001300736 [[82347546, 82348946], [82353452, 82353525], [82354993, 82355117], [82355792, 82355888], [82361987, 82362083], [82363450, 82363530], [82366679, 82366782], [82366896, 82366992], [82368657, 82368732], [82369222, 82369435], [82377804, 82377942], [82380485, 82380668], [82392923, 82393082]] [[82348921, 82348946], [82353452, 82353525], [82354993, 82355117], [82355792, 82355888], [82361987, 82362083], [82363450, 82363530], [82366679, 82366782], [82366896, 82366992], [82368657, 82368732], [82369222, 82369435], [82377804, 82377942], [82380485, 82380662]]
Promoter
Chrom Start End Description
chr4 82392981 82392999 CAGE_peak_3_at_RASGEF1B_5end
chr4 82393009 82393037 CAGE_peak_2_at_RASGEF1B_5end
chr4 82393052 82393075 CAGE_peak_1_at_RASGEF1B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I081378 81378277 81381882 0.49 [{'connected_gene': 'PRKG2', 'score': 16.64}, {'connected_gene': 'RASGEF1B', 'score': 5.07}, {'connected_gene': 'RNU5A-2P', 'score': 0.25}, {'connected_gene': 'GC04M081429', 'score': 0.25}]
chr4 GH04I081255 81255167 81256492 0.31 [{'connected_gene': 'PRKG2', 'score': 19.58}, {'connected_gene': 'RASGEF1B', 'score': 5.35}, {'connected_gene': 'GC04M081149', 'score': 0.18}]
chr4 GH04I081785 81785812 81787039 0.83 [{'connected_gene': 'HNRNPD', 'score': 11.36}, {'connected_gene': 'MTCYBP44', 'score': 0.23}, {'connected_gene': 'GC04P081920', 'score': 0.12}, {'connected_gene': 'RASGEF1B', 'score': 0.07}]
chr4 GH04I081687 81687506 81687752 0.27 [{'connected_gene': 'RASGEF1B', 'score': 11.78}, {'connected_gene': 'TMEM150C', 'score': 4.63}, {'connected_gene': 'MTCYBP44', 'score': 0.25}, {'connected_gene': 'GC04M081523', 'score': 0.13}]
chr4 GH04I081503 81503771 81507058 1.39 [{'connected_gene': 'RASGEF1B', 'score': 30.33}, {'connected_gene': 'HNRNPD', 'score': 21.27}, {'connected_gene': 'HNRNPDL', 'score': 16.11}, {'connected_gene': 'LOC105377306', 'score': 0.44}, {'connected_gene': 'GC04M081523', 'score': 0.23}]
chr4 GH04I081606 81606601 81607536 0.97 [{'connected_gene': 'RASGEF1B', 'score': 21.34}, {'connected_gene': 'GC04M081523', 'score': 0.25}, {'connected_gene': 'MTCYBP44', 'score': 0.13}]
chr4 GH04I081573 81573939 81574365 0.24 [{'connected_gene': 'RASGEF1B', 'score': 11.46}, {'connected_gene': 'GC04M081523', 'score': 0.39}, {'connected_gene': 'MTCYBP44', 'score': 0.1}]
chr4 GH04I081722 81722246 81726196 1.38 [{'connected_gene': 'RASGEF1B', 'score': 25.67}, {'connected_gene': 'MTCYBP44', 'score': 0.44}, {'connected_gene': 'GC04M081523', 'score': 0.1}]
chr4 GH04I081561 81561555 81563372 1.01 [{'connected_gene': 'RASGEF1B', 'score': 23.96}, {'connected_gene': 'GC04M081523', 'score': 0.77}, {'connected_gene': 'MTCYBP44', 'score': 0.09}]
chr4 GH04I081599 81599907 81601776 0.52 [{'connected_gene': 'RASGEF1B', 'score': 11.22}, {'connected_gene': 'GC04M081523', 'score': 0.26}, {'connected_gene': 'MTCYBP44', 'score': 0.12}]
chr4 GH04I081589 81589356 81589596 0.33 [{'connected_gene': 'RASGEF1B', 'score': 30.83}, {'connected_gene': 'GC04M081523', 'score': 0.31}, {'connected_gene': 'MTCYBP44', 'score': 0.11}]
chr4 GH04I081607 81607979 81608271 0.3 [{'connected_gene': 'RASGEF1B', 'score': 13.59}, {'connected_gene': 'GC04M081523', 'score': 0.25}, {'connected_gene': 'MTCYBP44', 'score': 0.13}]
chr4 GH04I081634 81634818 81636549 1.13 [{'connected_gene': 'RASGEF1B', 'score': 12.98}, {'connected_gene': 'GC04M081523', 'score': 0.18}, {'connected_gene': 'MTCYBP44', 'score': 0.15}]
chr4 GH04I081631 81631299 81633630 1.31 [{'connected_gene': 'RASGEF1B', 'score': 17.95}, {'connected_gene': 'GC04M081523', 'score': 0.19}, {'connected_gene': 'MTCYBP44', 'score': 0.15}]
chr4 GH04I081844 81844490 81846559 0.8 [{'connected_gene': 'RASGEF1B', 'score': 6.78}, {'connected_gene': 'GC04P081920', 'score': 0.19}, {'connected_gene': 'MTCYBP44', 'score': 0.14}]
chr4 GH04I081645 81645188 81645660 0.3 [{'connected_gene': 'RASGEF1B', 'score': 12.93}, {'connected_gene': 'MTCYBP44', 'score': 0.17}, {'connected_gene': 'GC04M081523', 'score': 0.17}]
chr4 GH04I081610 81610114 81610240 0.22 [{'connected_gene': 'RASGEF1B', 'score': 6.22}, {'connected_gene': 'GC04M081523', 'score': 0.23}, {'connected_gene': 'MTCYBP44', 'score': 0.13}]
chr4 GH04I081564 81564736 81566406 1.16 [{'connected_gene': 'RASGEF1B', 'score': 16.23}, {'connected_gene': 'GC04M081523', 'score': 0.44}, {'connected_gene': 'MTCYBP44', 'score': 0.1}]
chr4 GH04I081554 81554143 81554396 0.22 [{'connected_gene': 'RASGEF1B', 'score': 26.49}, {'connected_gene': 'GC04M081523', 'score': 0.44}, {'connected_gene': 'LOC105377306', 'score': 0.22}]
chr4 GH04I081508 81508770 81510200 1.26 [{'connected_gene': 'RASGEF1B', 'score': 41.26}, {'connected_gene': 'LOC105377306', 'score': 0.39}, {'connected_gene': 'GC04M081523', 'score': 0.23}]
chr4 GH04I081469 81469713 81473632 2.41 [{'connected_gene': 'RASGEF1B', 'score': 584.25}, {'connected_gene': 'LOC105377306', 'score': 0.31}, {'connected_gene': 'PIR49163', 'score': 0.26}]
chr4 GH04I081512 81512697 81514164 0.99 [{'connected_gene': 'RASGEF1B', 'score': 18.1}, {'connected_gene': 'LOC105377306', 'score': 0.39}, {'connected_gene': 'GC04M081523', 'score': 0.25}]
chr4 GH04I081495 81495955 81496001 0.42 [{'connected_gene': 'RASGEF1B', 'score': 18.79}, {'connected_gene': 'LOC105377306', 'score': 0.77}, {'connected_gene': 'PIR49163', 'score': 0.2}]
chr4 GH04I081557 81557517 81557576 0.22 [{'connected_gene': 'RASGEF1B', 'score': 10.1}, {'connected_gene': 'GC04M081523', 'score': 0.77}, {'connected_gene': 'LOC105377306', 'score': 0.22}]
chr4 GH04I081486 81486162 81487245 0.31 [{'connected_gene': 'RASGEF1B', 'score': 10.96}, {'connected_gene': 'LOC105377306', 'score': 0.39}, {'connected_gene': 'PIR49163', 'score': 0.22}]
chr4 GH04I081482 81482392 81482635 0.5 [{'connected_gene': 'RASGEF1B', 'score': 19.77}, {'connected_gene': 'LOC105377306', 'score': 0.37}, {'connected_gene': 'PIR49163', 'score': 0.23}]
chr4 GH04I081490 81490330 81495818 1.3 [{'connected_gene': 'RASGEF1B', 'score': 31.55}, {'connected_gene': 'LOC105377306', 'score': 0.44}, {'connected_gene': 'PIR49163', 'score': 0.21}]
chr4 GH04I081553 81553063 81553356 0.29 [{'connected_gene': 'RASGEF1B', 'score': 20.93}, {'connected_gene': 'GC04M081523', 'score': 0.44}, {'connected_gene': 'LOC105377306', 'score': 0.23}]
chr4 GH04I081420 81420660 81422925 1.42 [{'connected_gene': 'RASGEF1B', 'score': 27.95}, {'connected_gene': 'GC04M081429', 'score': 0.44}, {'connected_gene': 'RNU5A-2P', 'score': 0.17}]
chr4 GH04I081426 81426645 81428235 0.4 [{'connected_gene': 'RASGEF1B', 'score': 11.27}, {'connected_gene': 'GC04M081429', 'score': 0.77}, {'connected_gene': 'RNU5A-2P', 'score': 0.16}]
chr4 GH04I081410 81410703 81410922 0.57 [{'connected_gene': 'RASGEF1B', 'score': 17.05}, {'connected_gene': 'GC04M081429', 'score': 0.37}, {'connected_gene': 'RNU5A-2P', 'score': 0.18}]
chr4 GH04I082042 82042040 82045288 1.32 [{'connected_gene': 'RASGEF1B', 'score': 550.77}, {'connected_gene': 'ENSG00000252762', 'score': 10.13}, {'connected_gene': 'NPM1P41', 'score': 0.29}, {'connected_gene': 'GC04P081920', 'score': 0.13}]
chr4 GH04I081647 81647547 81647696 0.31 [{'connected_gene': 'MTCYBP44', 'score': 0.17}, {'connected_gene': 'GC04M081523', 'score': 0.17}, {'connected_gene': 'RASGEF1B', 'score': 0.05}]
chr4 GH04I081675 81675770 81677238 0.31 [{'connected_gene': 'MTCYBP44', 'score': 0.22}, {'connected_gene': 'GC04M081523', 'score': 0.13}, {'connected_gene': 'RASGEF1B', 'score': 0.05}]
chr4 GH04I081790 81790608 81790757 0.84 [{'connected_gene': 'MTCYBP44', 'score': 0.22}, {'connected_gene': 'GC04P081920', 'score': 0.13}, {'connected_gene': 'RASGEF1B', 'score': 0.07}]
chr4 GH04I081747 81747141 81748000 1.05 [{'connected_gene': 'MTCYBP44', 'score': 0.39}, {'connected_gene': 'GC04P081920', 'score': 0.09}, {'connected_gene': 'RASGEF1B', 'score': 0.06}]
chr4 GH04I081650 81650265 81652727 0.92 [{'connected_gene': 'MTCYBP44', 'score': 0.18}, {'connected_gene': 'GC04M081523', 'score': 0.16}, {'connected_gene': 'RASGEF1B', 'score': 0.05}]
chr4 GH04I081648 81648395 81649479 0.66 [{'connected_gene': 'MTCYBP44', 'score': 0.17}, {'connected_gene': 'GC04M081523', 'score': 0.17}, {'connected_gene': 'RASGEF1B', 'score': 0.05}]
chr4 GH04I081499 81499512 81500691 0.46 [{'connected_gene': 'LOC105377306', 'score': 550.77}, {'connected_gene': 'GC04M081523', 'score': 0.22}, {'connected_gene': 'RASGEF1B', 'score': 0.03}]
chr4 GH04I081465 81465489 81466698 0.77 [{'connected_gene': 'LOC105377306', 'score': 0.29}, {'connected_gene': 'PIR49163', 'score': 0.28}, {'connected_gene': 'RASGEF1B', 'score': 0.03}]
chr4 GH04I081466 81466898 81467790 1.05 [{'connected_gene': 'LOC105377306', 'score': 0.29}, {'connected_gene': 'PIR49163', 'score': 0.28}, {'connected_gene': 'RASGEF1B', 'score': 0.03}]
chr4 GH04I081470 81469201 81469400 0.4 [{'connected_gene': 'LOC105377306', 'score': 0.31}, {'connected_gene': 'PIR49163', 'score': 0.28}, {'connected_gene': 'RASGEF1B', 'score': 0.03}]
chr4 GH04I081883 81883181 81884562 0.31 [{'connected_gene': 'ENSG00000252762', 'score': 10.67}, {'connected_gene': 'RASGEF1B', 'score': 8.15}, {'connected_gene': 'GC04P081920', 'score': 0.28}, {'connected_gene': 'MTCYBP44', 'score': 0.11}]
chr4 GH04I081604 81604827 81606272 0.52 [{'connected_gene': 'GC04M081523', 'score': 0.25}, {'connected_gene': 'MTCYBP44', 'score': 0.13}, {'connected_gene': 'RASGEF1B', 'score': 0.05}]
chr4 GH04I081565 81564127 81564276 0.2 [{'connected_gene': 'GC04M081523', 'score': 0.77}, {'connected_gene': 'MTCYBP44', 'score': 0.09}, {'connected_gene': 'RASGEF1B', 'score': 0.04}]
chr4 GH04I081454 81454627 81454776 0.88 [{'connected_gene': 'PIR49163', 'score': 0.34}, {'connected_gene': 'LOC105377306', 'score': 0.26}, {'connected_gene': 'RASGEF1B', 'score': 0.03}]
chr4 GH04I081446 81446392 81448929 0.52 [{'connected_gene': 'PIR49163', 'score': 0.37}, {'connected_gene': 'LOC105377306', 'score': 0.23}, {'connected_gene': 'RASGEF1B', 'score': 0.03}]
chr4 GH04I081951 81951576 81952469 0.2 [{'connected_gene': 'ENSG00000252762', 'score': 10.97}, {'connected_gene': 'GC04P081920', 'score': 0.29}, {'connected_gene': 'NPM1P41', 'score': 0.21}, {'connected_gene': 'RASGEF1B', 'score': 0.16}]

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