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
ENST00000264485 [[72053002, 72053118], [72102292, 72102366], [72120936, 72121116], [72205086, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72338687], [72352664, 72352735], [72363217, 72363409], [72397778, 72397892], [72399943, 72400105], [72412066, 72412245], [72413364, 72413437], [72420856, 72420925], [72423428, 72423602], [72425809, 72425971], [72429509, 72429606], [72432720, 72432800], [72433504, 72435434]] [[72102293, 72102366], [72120936, 72121116], [72205086, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72338687], [72352664, 72352735], [72363217, 72363409], [72397778, 72397892], [72399943, 72400105], [72412066, 72412245], [72413364, 72413437], [72420856, 72420925], [72423428, 72423602], [72425809, 72425971], [72429509, 72429606], [72432720, 72432764]]
ENST00000425175 [[72053002, 72053118], [72102292, 72102366], [72120936, 72121116], [72205086, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72338687], [72352664, 72352735], [72363217, 72363409], [72397778, 72397892], [72399943, 72400105], [72412066, 72412245], [72413364, 72413437], [72420856, 72420925], [72423428, 72423602], [72425809, 72425971], [72432720, 72432800], [72433504, 72437804]] [[72102293, 72102366], [72120936, 72121116], [72205086, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72338687], [72352664, 72352735], [72363217, 72363409], [72397778, 72397892], [72399943, 72400105], [72412066, 72412245], [72413364, 72413437], [72420856, 72420925], [72423428, 72423602], [72425809, 72425971], [72432720, 72432800], [72433504, 72433610]]
ENST00000351898 [[72053043, 72053118], [72102292, 72102366], [72120936, 72121116], [72205086, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72338687], [72352664, 72352735], [72363217, 72363409], [72397778, 72397892], [72399943, 72400105], [72420856, 72420925], [72423428, 72423602], [72425809, 72425971], [72429509, 72429606], [72432720, 72432800], [72433504, 72434175]] [[72102293, 72102366], [72120936, 72121116], [72205086, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72338687], [72352664, 72352735], [72363217, 72363409], [72397778, 72397892], [72399943, 72400105], [72420856, 72420925], [72423428, 72423602], [72425809, 72425971], [72429509, 72429606], [72432720, 72432764]]
ENST00000340595 [[72204769, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72338687], [72352664, 72352735], [72363217, 72363409], [72397778, 72397892], [72399943, 72400105], [72412066, 72412245], [72413364, 72413437], [72420856, 72420925], [72423428, 72423602], [72425809, 72425971], [72429509, 72429606], [72432720, 72432800], [72433504, 72437804]] [[72204965, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72338687], [72352664, 72352735], [72363217, 72363409], [72397778, 72397892], [72399943, 72400105], [72412066, 72412245], [72413364, 72413437], [72420856, 72420925], [72423428, 72423602], [72425809, 72425971], [72429509, 72429606], [72432720, 72432764]]
ENST00000514331 [[72120934, 72121116], [72205086, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72339024]] None
ENST00000512686 [[72204769, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72339036]] [[72204965, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72338857]]
NM_001134742 [[72053002, 72053118], [72102292, 72102366], [72120936, 72121116], [72205086, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72338687], [72352664, 72352735], [72363217, 72363409], [72397778, 72397892], [72399943, 72400105], [72412066, 72412245], [72413364, 72413437], [72420856, 72420925], [72423428, 72423602], [72425809, 72425971], [72432720, 72432800], [72433504, 72437804]] [[72102293, 72102366], [72120936, 72121116], [72205086, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72338687], [72352664, 72352735], [72363217, 72363409], [72397778, 72397892], [72399943, 72400105], [72412066, 72412245], [72413364, 72413437], [72420856, 72420925], [72423428, 72423602], [72425809, 72425971], [72432720, 72432800], [72433504, 72433610]]
NM_001098484 [[72053002, 72053118], [72102292, 72102366], [72120936, 72121116], [72205086, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72338687], [72352664, 72352735], [72363217, 72363409], [72397778, 72397892], [72399943, 72400105], [72412066, 72412245], [72413364, 72413437], [72420856, 72420925], [72423428, 72423602], [72425809, 72425971], [72429509, 72429606], [72432720, 72432800], [72433504, 72437804]] [[72102293, 72102366], [72120936, 72121116], [72205086, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72338687], [72352664, 72352735], [72363217, 72363409], [72397778, 72397892], [72399943, 72400105], [72412066, 72412245], [72413364, 72413437], [72420856, 72420925], [72423428, 72423602], [72425809, 72425971], [72429509, 72429606], [72432720, 72432764]]
NM_003759 [[72204769, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72338687], [72352664, 72352735], [72363217, 72363409], [72397778, 72397892], [72399943, 72400105], [72412066, 72412245], [72413364, 72413437], [72420856, 72420925], [72423428, 72423602], [72425809, 72425971], [72429509, 72429606], [72432720, 72432800], [72433504, 72437804]] [[72204965, 72205222], [72215628, 72215789], [72222724, 72222904], [72263293, 72263370], [72306332, 72306490], [72313362, 72313450], [72316105, 72316260], [72316904, 72317018], [72319211, 72319386], [72332160, 72332294], [72338415, 72338687], [72352664, 72352735], [72363217, 72363409], [72397778, 72397892], [72399943, 72400105], [72412066, 72412245], [72413364, 72413437], [72420856, 72420925], [72423428, 72423602], [72425809, 72425971], [72429509, 72429606], [72432720, 72432764]]
Promoter
Chrom Start End Description
chr4 72052624 72052640 CAGE_peak_7_at_SLC4A4_5end
chr4 72052646 72052664 CAGE_peak_5_at_SLC4A4_5end
chr4 72052683 72052716 CAGE_peak_8_at_SLC4A4_5end
chr4 72052964 72053013 CAGE_peak_1_at_SLC4A4_5end
chr4 72053017 72053031 CAGE_peak_11_at_SLC4A4_5end
chr4 72101770 72101784 CAGE_peak_4_at_SLC4A4_5end
chr4 72101794 72101803 CAGE_peak_17_at_SLC4A4_5end
chr4 72101895 72101903 CAGE_peak_14_at_SLC4A4_5end
chr4 72101966 72101969 CAGE_peak_21_at_SLC4A4_5end
chr4 72102117 72102131 CAGE_peak_15_at_SLC4A4_5end
chr4 72102152 72102166 CAGE_peak_16_at_SLC4A4_5end
chr4 72204731 72204748 CAGE_peak_3_at_SLC4A4_5end
chr4 72204755 72204778 CAGE_peak_9_at_SLC4A4_5end
chr4 72204780 72204830 CAGE_peak_2_at_SLC4A4_5end
chr4 72204833 72204846 CAGE_peak_12_at_SLC4A4_5end
chr4 72205095 72205104 CAGE_peak_25_at_SLC4A4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I071186 71186150 71190022 2.2 [{'connected_gene': 'SLC4A4', 'score': 550.77}, {'connected_gene': 'MOB1B', 'score': 5.14}, {'connected_gene': 'ENSG00000249170', 'score': 0.14}]
chr4 GH04I071107 71107202 71108759 0.2 [{'connected_gene': 'SLC4A4', 'score': 5.97}, {'connected_gene': 'DCK', 'score': 5.04}, {'connected_gene': 'GC04M071034', 'score': 0.23}]
chr4 GH04I071126 71126341 71127583 0.57 [{'connected_gene': 'SLC4A4', 'score': 8.76}, {'connected_gene': 'DCK', 'score': 4.19}, {'connected_gene': 'GC04M071034', 'score': 0.29}]
chr4 GH04I071601 71601864 71603287 0.2 [{'connected_gene': 'SLC4A4', 'score': 5.86}, {'connected_gene': 'LOC105377271', 'score': 0.37}, {'connected_gene': 'GC04M071452', 'score': 0.11}]
chr4 GH04I071541 71541850 71542217 0.24 [{'connected_gene': 'SLC4A4', 'score': 3.01}, {'connected_gene': 'LOC105377271', 'score': 0.18}, {'connected_gene': 'GC04M071452', 'score': 0.17}]
chr4 GH04I071614 71614354 71615224 0.31 [{'connected_gene': 'SLC4A4', 'score': 5.04}, {'connected_gene': 'LOC105377271', 'score': 0.44}, {'connected_gene': 'GC04M071452', 'score': 0.1}]
chr4 GH04I071595 71595776 71596445 0.2 [{'connected_gene': 'SLC4A4', 'score': 6.38}, {'connected_gene': 'LOC105377271', 'score': 0.31}, {'connected_gene': 'GC04M071452', 'score': 0.11}]
chr4 GH04I071338 71338856 71339502 1.22 [{'connected_gene': 'SLC4A4', 'score': 550.1}, {'connected_gene': 'ENSG00000249170', 'score': 0.28}, {'connected_gene': 'LDHAL6EP', 'score': 0.15}]
chr4 GH04I071449 71449494 71449865 0.33 [{'connected_gene': 'SLC4A4', 'score': 1.72}, {'connected_gene': 'GC04M071452', 'score': 0.77}, {'connected_gene': 'LDHAL6EP', 'score': 0.39}]
chr4 GH04I071221 71221009 71224051 0.52 [{'connected_gene': 'SLC4A4', 'score': 0.28}, {'connected_gene': 'ENSG00000249170', 'score': 0.18}]
chr4 GH04I071217 71217431 71218472 0.31 [{'connected_gene': 'SLC4A4', 'score': 0.29}, {'connected_gene': 'ENSG00000249170', 'score': 0.18}]
chr4 GH04I071236 71236903 71239943 0.6 [{'connected_gene': 'SLC4A4', 'score': 0.23}, {'connected_gene': 'ENSG00000249170', 'score': 0.21}]
chr4 GH04I071240 71240901 71242209 0.83 [{'connected_gene': 'SLC4A4', 'score': 0.23}, {'connected_gene': 'ENSG00000249170', 'score': 0.22}]
chr4 GH04I071237 71236011 71236070 0.79 [{'connected_gene': 'SLC4A4', 'score': 550.25}, {'connected_gene': 'ENSG00000249170', 'score': 0.2}]
chr4 GH04I071229 71229402 71232681 1.34 [{'connected_gene': 'SLC4A4', 'score': 3.91}, {'connected_gene': 'ENSG00000249170', 'score': 0.19}]
chr4 GH04I071211 71211537 71212593 0.74 [{'connected_gene': 'RUFY3', 'score': 4.67}, {'connected_gene': 'SLC4A4', 'score': 0.31}, {'connected_gene': 'ENSG00000249170', 'score': 0.17}]
chr4 GH04I071195 71195516 71196710 0.58 [{'connected_gene': 'RUFY3', 'score': 6.83}, {'connected_gene': 'SLC4A4', 'score': 0.44}, {'connected_gene': 'ENSG00000249170', 'score': 0.14}]
chr4 GH04I071198 71198584 71200151 0.59 [{'connected_gene': 'RUFY3', 'score': 6.87}, {'connected_gene': 'SLC4A4', 'score': 0.39}, {'connected_gene': 'ENSG00000249170', 'score': 0.15}]
chr4 GH04I071184 71184344 71184473 0.7 [{'connected_gene': 'JCHAIN', 'score': 9.11}, {'connected_gene': 'SLC4A4', 'score': 0.77}, {'connected_gene': 'GC04M071034', 'score': 0.34}]
chr4 GH04I071560 71560088 71561113 0.57 [{'connected_gene': 'LOC105377271', 'score': 0.21}, {'connected_gene': 'GC04M071452', 'score': 0.14}, {'connected_gene': 'SLC4A4', 'score': 0.05}]
chr4 GH04I071377 71377684 71377853 0.64 [{'connected_gene': 'LDHAL6EP', 'score': 0.21}, {'connected_gene': 'ENSG00000249170', 'score': 0.18}, {'connected_gene': 'SLC4A4', 'score': 0.08}]
chr4 GH04I071381 71381893 71384254 0.52 [{'connected_gene': 'LDHAL6EP', 'score': 0.23}, {'connected_gene': 'ENSG00000249170', 'score': 0.18}, {'connected_gene': 'SLC4A4', 'score': 0.08}]
chr4 GH04I071389 71389644 71389793 0.46 [{'connected_gene': 'LDHAL6EP', 'score': 0.25}, {'connected_gene': 'ENSG00000249170', 'score': 0.17}, {'connected_gene': 'SLC4A4', 'score': 0.08}]
chr4 GH04I071406 71406484 71406613 0.83 [{'connected_gene': 'LDHAL6EP', 'score': 0.29}, {'connected_gene': 'ENSG00000249170', 'score': 0.14}, {'connected_gene': 'SLC4A4', 'score': 0.08}]
chr4 GH04I071472 71472685 71474082 0.31 [{'connected_gene': 'LDHAL6EP', 'score': 5.45}, {'connected_gene': 'GC04M071452', 'score': 0.37}, {'connected_gene': 'LOC105377271', 'score': 0.11}, {'connected_gene': 'SLC4A4', 'score': 0.06}]
chr4 GH04I071265 71265557 71270031 1.07 [{'connected_gene': 'ENSG00000249170', 'score': 0.29}, {'connected_gene': 'SLC4A4', 'score': 0.18}]
chr4 GH04I071257 71257085 71258566 0.43 [{'connected_gene': 'ENSG00000249170', 'score': 0.26}, {'connected_gene': 'SLC4A4', 'score': 0.19}]
chr4 GH04I071253 71253801 71254800 0.72 [{'connected_gene': 'ENSG00000249170', 'score': 0.25}, {'connected_gene': 'SLC4A4', 'score': 0.2}]
chr4 GH04I071259 71259345 71260841 0.99 [{'connected_gene': 'ENSG00000249170', 'score': 0.26}, {'connected_gene': 'SLC4A4', 'score': 0.19}]
chr4 GH04I071250 71250771 71252082 0.4 [{'connected_gene': 'ENSG00000249170', 'score': 0.25}, {'connected_gene': 'SLC4A4', 'score': 0.21}]
chr4 GH04I071293 71293510 71294827 0.52 [{'connected_gene': 'ENSG00000249170', 'score': 0.44}, {'connected_gene': 'SLC4A4', 'score': 0.14}]
chr4 GH04I071289 71289434 71291169 0.38 [{'connected_gene': 'ENSG00000249170', 'score': 0.39}, {'connected_gene': 'SLC4A4', 'score': 0.15}]
chr4 GH04I071261 71261446 71262949 0.94 [{'connected_gene': 'ENSG00000249170', 'score': 0.28}, {'connected_gene': 'SLC4A4', 'score': 0.18}]
chr4 GH04I071456 71456456 71457636 0.57 [{'connected_gene': 'GC04M071452', 'score': 0.77}, {'connected_gene': 'LOC105377271', 'score': 0.1}, {'connected_gene': 'SLC4A4', 'score': 0.06}]
chr4 GH04I071527 71527688 71527883 0.22 [{'connected_gene': 'GC04M071452', 'score': 0.19}, {'connected_gene': 'LOC105377271', 'score': 0.16}, {'connected_gene': 'SLC4A4', 'score': 0.05}]

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