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
ENST00000401084 [[19665266, 19666111], [19670851, 19670928], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19811929, 19812066]] [[19666023, 19666111], [19670851, 19670928], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19811929, 19811932]]
ENST00000264203 [[19665269, 19666111], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19775327, 19775824], [19811929, 19812007]] [[19666060, 19666111], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19775327, 19775408]]
ENST00000375142 [[19665316, 19666111], [19669245, 19669358], [19670851, 19670928], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19811929, 19811979]] [[19669255, 19669358], [19670851, 19670928], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19811929, 19811932]]
ENST00000433834 [[19665852, 19666111], [19670851, 19670928], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19810683, 19811158]] [[19666023, 19666111], [19670851, 19670928], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19810683, 19810773]]
ENST00000264202 [[19669255, 19669358], [19670851, 19670928], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19811929, 19811981]] [[19669255, 19669358], [19670851, 19670928], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19811929, 19811932]]
ENST00000413711 [[19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19810377, 19810579]] [[19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746211]]
ENST00000459967 [[19683148, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19811929, 19812033]] None
ENST00000482808 [[19700668, 19700949], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19811929, 19811982]] None
ENST00000375144 [[19665272, 19666111], [19670851, 19670928], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746245]] [[19666023, 19666111], [19670851, 19670928], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746211]]
ENST00000457768 [[19683938, 19684057], [19705033, 19705147], [19711998, 19712120], [19712214, 19712291]] [[19683938, 19684057], [19705033, 19705147], [19711998, 19712120], [19712214, 19712223]]
ENST00000489607 [[19684015, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19746518, 19746638]] None
NM_001282162 [[19665266, 19666111], [19670851, 19670928], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19810683, 19811201]] [[19666023, 19666111], [19670851, 19670928], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19810683, 19810773]]
NM_001206541 [[19665266, 19666111], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19775327, 19775824], [19811929, 19812135]] [[19666060, 19666111], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19775327, 19775408]]
NM_001206540 [[19665266, 19666111], [19669245, 19669358], [19670851, 19670928], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19811929, 19812135]] [[19669255, 19669358], [19670851, 19670928], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19811929, 19811932]]
NM_004930 [[19665266, 19666111], [19670851, 19670928], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19811929, 19812135]] [[19666023, 19666111], [19670851, 19670928], [19671680, 19671746], [19683128, 19683245], [19683915, 19684057], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19811929, 19811932]]
NM_001313932 [[19700668, 19700949], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19811929, 19812135]] [[19700939, 19700949], [19705033, 19705147], [19711998, 19712120], [19746154, 19746244], [19811929, 19811932]]
Promoter
Chrom Start End Description
chr1 19671711 19671744 CAGE_peak_3_at_CAPZB_5end
chr1 19746197 19746227 CAGE_peak_8_at_CAPZB_5end
chr1 19746236 19746261 CAGE_peak_6_at_CAPZB_5end
chr1 19810776 19810796 CAGE_peak_10_at_CAPZB_5end
chr1 19810947 19810977 CAGE_peak_17_at_CAPZB_5end
chr1 19811132 19811155 CAGE_peak_20_at_CAPZB_5end
chr1 19811665 19811701 CAGE_peak_9_at_CAPZB_5end
chr1 19811962 19811994 CAGE_peak_2_at_CAPZB_5end
chr1 19811996 19812048 CAGE_peak_1_at_CAPZB_5end
chr1 19812131 19812144 CAGE_peak_15_at_CAPZB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I019474 19474642 19479855 1.53 [{'connected_gene': 'AKR7A2', 'score': 7.06}, {'connected_gene': 'CAPZB', 'score': 5.06}, {'connected_gene': 'PLA2G2E', 'score': 5.04}, {'connected_gene': 'UBR4', 'score': 2.25}, {'connected_gene': 'TMCO4', 'score': 1.14}, {'connected_gene': 'PIR41915', 'score': 0.39}]
chr1 GH01I019471 19471690 19472893 0.59 [{'connected_gene': 'AKR7A2', 'score': 7.34}, {'connected_gene': 'PIR41915', 'score': 0.44}, {'connected_gene': 'CAPZB', 'score': 0.39}]
chr1 GH01I019341 19341128 19342683 0.95 [{'connected_gene': 'AKR7A2', 'score': 10.37}, {'connected_gene': 'PQLC2', 'score': 6.55}, {'connected_gene': 'CAPZB', 'score': 6.42}, {'connected_gene': 'GC01M019346', 'score': 0.44}, {'connected_gene': 'PIR41831', 'score': 0.39}]
chr1 GH01I019383 19383527 19388146 1.3 [{'connected_gene': 'CAPZB', 'score': 22.87}, {'connected_gene': 'AKR7A2', 'score': 12.61}, {'connected_gene': 'MINOS1', 'score': 11.87}, {'connected_gene': 'LOC105378614', 'score': 11.87}, {'connected_gene': 'RNU4-28P', 'score': 11.13}, {'connected_gene': 'NBL1', 'score': 10.57}, {'connected_gene': 'HTR6', 'score': 10.46}, {'connected_gene': 'PQLC2', 'score': 6.94}, {'connected_gene': 'GC01P019361', 'score': 0.34}, {'connected_gene': 'RN7SL277P', 'score': 0.28}]
chr1 GH01I019404 19404467 19408406 1.25 [{'connected_gene': 'CAPZB', 'score': 22.63}, {'connected_gene': 'AKR7A2', 'score': 21.11}, {'connected_gene': 'UBR4', 'score': 12.97}, {'connected_gene': 'PQLC2', 'score': 11.17}, {'connected_gene': 'RNU6-1099P', 'score': 11.16}, {'connected_gene': 'NBL1', 'score': 10.81}, {'connected_gene': 'RNU4-28P', 'score': 10.74}, {'connected_gene': 'EMC1', 'score': 4.62}, {'connected_gene': 'RN7SL277P', 'score': 0.37}, {'connected_gene': 'GC01P019361', 'score': 0.26}]
chr1 GH01I019368 19368487 19379014 0.76 [{'connected_gene': 'CAPZB', 'score': 20.73}, {'connected_gene': 'PQLC2', 'score': 16.16}, {'connected_gene': 'AKR7A2', 'score': 11.18}, {'connected_gene': 'RNU6-1099P', 'score': 11.18}, {'connected_gene': 'HTR6', 'score': 11.13}, {'connected_gene': 'RNU4-28P', 'score': 10.88}, {'connected_gene': 'NBL1', 'score': 10.77}, {'connected_gene': 'GC01P019361', 'score': 0.39}, {'connected_gene': 'RN7SL277P', 'score': 0.23}]
chr1 GH01I019362 19362632 19365075 0.51 [{'connected_gene': 'CAPZB', 'score': 18.95}, {'connected_gene': 'PQLC2', 'score': 16.64}, {'connected_gene': 'AKR7A2', 'score': 11.23}, {'connected_gene': 'RNU6-1099P', 'score': 11.22}, {'connected_gene': 'RNU4-28P', 'score': 11.01}, {'connected_gene': 'AKR7L', 'score': 9.77}, {'connected_gene': 'GC01P019361', 'score': 0.77}, {'connected_gene': 'RN7SL277P', 'score': 0.21}]
chr1 GH01I019402 19402941 19404224 0.2 [{'connected_gene': 'CAPZB', 'score': 10.41}, {'connected_gene': 'PQLC2', 'score': 5.28}, {'connected_gene': 'EMC1', 'score': 4.64}, {'connected_gene': 'RN7SL277P', 'score': 0.34}, {'connected_gene': 'GC01P019361', 'score': 0.26}]
chr1 GH01I019504 19504401 19507828 1.43 [{'connected_gene': 'CAPZB', 'score': 15.97}, {'connected_gene': 'NBL1', 'score': 6.02}, {'connected_gene': 'UBR4', 'score': 1.68}, {'connected_gene': 'RNU4-28P', 'score': 0.77}, {'connected_gene': 'LOC105376819', 'score': 0.44}]
chr1 GH01I019514 19514094 19515256 0.58 [{'connected_gene': 'CAPZB', 'score': 7.34}, {'connected_gene': 'NBL1', 'score': 6.68}, {'connected_gene': 'LOC105376818', 'score': 0.77}, {'connected_gene': 'LOC105376819', 'score': 0.39}, {'connected_gene': 'LOC105376817', 'score': 0.37}]
chr1 GH01I019432 19432136 19471546 2.26 [{'connected_gene': 'CAPZB', 'score': 574.27}, {'connected_gene': 'EMC1', 'score': 14.45}, {'connected_gene': 'NBL1', 'score': 13.26}, {'connected_gene': 'RNU4-28P', 'score': 11.33}, {'connected_gene': 'HTR6', 'score': 10.82}, {'connected_gene': 'AKR7A2', 'score': 10.29}, {'connected_gene': 'OTUD3', 'score': 10.1}, {'connected_gene': 'AKR7A3', 'score': 8.85}, {'connected_gene': 'PQLC2', 'score': 6.11}, {'connected_gene': 'UBR4', 'score': 2.55}, {'connected_gene': 'PLA2G2E', 'score': 2.36}, {'connected_gene': 'PIR41915', 'score': 0.39}, {'connected_gene': 'RN7SL277P', 'score': 0.31}]
chr1 GH01I019422 19422779 19431382 1.34 [{'connected_gene': 'CAPZB', 'score': 23.43}, {'connected_gene': 'RNU4-28P', 'score': 11.03}, {'connected_gene': 'HTR6', 'score': 10.19}, {'connected_gene': 'AKR7A2', 'score': 8.79}, {'connected_gene': 'RN7SL277P', 'score': 0.77}, {'connected_gene': 'PIR41915', 'score': 0.28}]
chr1 GH01I019411 19411404 19412063 0.76 [{'connected_gene': 'CAPZB', 'score': 12.41}, {'connected_gene': 'RNU4-28P', 'score': 10.43}, {'connected_gene': 'HTR6', 'score': 10.21}, {'connected_gene': 'AKR7A2', 'score': 10.03}, {'connected_gene': 'RN7SL277P', 'score': 0.39}, {'connected_gene': 'GC01P019361', 'score': 0.23}]
chr1 GH01I019481 19481596 19488476 2.22 [{'connected_gene': 'CAPZB', 'score': 550.77}, {'connected_gene': 'RNU4-28P', 'score': 12.22}, {'connected_gene': 'HTR6', 'score': 10.87}, {'connected_gene': 'NBL1', 'score': 10.53}, {'connected_gene': 'AKR7A3', 'score': 4.59}, {'connected_gene': 'PIR41915', 'score': 0.37}]
chr1 GH01I019366 19366673 19368371 0.63 [{'connected_gene': 'PQLC2', 'score': 16.17}, {'connected_gene': 'AKR7A2', 'score': 11.19}, {'connected_gene': 'RNU6-1099P', 'score': 11.18}, {'connected_gene': 'CAPZB', 'score': 10.69}, {'connected_gene': 'AKR7L', 'score': 9.75}, {'connected_gene': 'GC01P019361', 'score': 0.44}, {'connected_gene': 'RN7SL277P', 'score': 0.22}]
chr1 GH01I019337 19337579 19339461 1.23 [{'connected_gene': 'PQLC2', 'score': 18.45}, {'connected_gene': 'AKR7A2', 'score': 12.79}, {'connected_gene': 'RNU6-1099P', 'score': 12.77}, {'connected_gene': 'RNU4-28P', 'score': 11.05}, {'connected_gene': 'CAPZB', 'score': 6.66}, {'connected_gene': 'PIR41831', 'score': 0.44}, {'connected_gene': 'GC01M019346', 'score': 0.39}]
chr1 GH01I019479 19479879 19481167 0.43 [{'connected_gene': 'PQLC2', 'score': 4.94}, {'connected_gene': 'CAPZB', 'score': 0.44}, {'connected_gene': 'PIR41915', 'score': 0.39}]
chr1 GH01I019494 19494400 19496893 1.09 [{'connected_gene': 'NBL1', 'score': 6.84}, {'connected_gene': 'CAPZB', 'score': 5.15}, {'connected_gene': 'LOC105376819', 'score': 0.77}, {'connected_gene': 'GC01P019490', 'score': 0.44}]
chr1 GH01I019394 19394906 19396688 0.66 [{'connected_gene': 'NBL1', 'score': 11.08}, {'connected_gene': 'RNU4-28P', 'score': 10.86}, {'connected_gene': 'AKR7A2', 'score': 9.6}, {'connected_gene': 'PQLC2', 'score': 6.84}, {'connected_gene': 'AKR7A3', 'score': 5.66}, {'connected_gene': 'RN7SL277P', 'score': 0.31}, {'connected_gene': 'GC01P019361', 'score': 0.29}, {'connected_gene': 'CAPZB', 'score': 0.17}]
chr1 GH01I019388 19388244 19389549 0.31 [{'connected_gene': 'MINOS1', 'score': 11.87}, {'connected_gene': 'LOC105378614', 'score': 11.87}, {'connected_gene': 'RNU4-28P', 'score': 11.13}, {'connected_gene': 'CAPZB', 'score': 8.98}, {'connected_gene': 'PQLC2', 'score': 6.98}, {'connected_gene': 'GC01P019361', 'score': 0.31}, {'connected_gene': 'RN7SL277P', 'score': 0.28}]
chr1 GH01I019357 19357040 19358542 0.2 [{'connected_gene': 'AKR7L', 'score': 9.77}, {'connected_gene': 'CAPZB', 'score': 8.39}, {'connected_gene': 'PQLC2', 'score': 5.65}, {'connected_gene': 'GC01P019355', 'score': 0.77}, {'connected_gene': 'GC01P019361', 'score': 0.77}]
chr1 GH01I019344 19344231 19344693 0.91 [{'connected_gene': 'AKR7A3', 'score': 12.64}, {'connected_gene': 'HTR6', 'score': 10.8}, {'connected_gene': 'GC01M019346', 'score': 0.77}, {'connected_gene': 'PIR41831', 'score': 0.39}, {'connected_gene': 'CAPZB', 'score': 0.11}]
chr1 GH01I019576 19576859 19578067 0.31 [{'connected_gene': 'RNU4-28P', 'score': 12.11}, {'connected_gene': 'CAPZB', 'score': 10.79}, {'connected_gene': 'AKR7A2', 'score': 4.68}, {'connected_gene': 'GC01P019599', 'score': 0.37}, {'connected_gene': 'LOC105376817', 'score': 0.25}]
chr1 GH01I019381 19381182 19382888 0.31 [{'connected_gene': 'RNU4-28P', 'score': 10.83}, {'connected_gene': 'CAPZB', 'score': 10.21}, {'connected_gene': 'PQLC2', 'score': 5.61}, {'connected_gene': 'GC01P019361', 'score': 0.34}, {'connected_gene': 'RN7SL277P', 'score': 0.26}]
chr1 GH01I019413 19412853 19420985 0.89 [{'connected_gene': 'RNU4-28P', 'score': 10.84}, {'connected_gene': 'CAPZB', 'score': 10.83}, {'connected_gene': 'HTR6', 'score': 10.21}, {'connected_gene': 'AKR7A2', 'score': 9.42}, {'connected_gene': 'PQLC2', 'score': 5.33}, {'connected_gene': 'EMC1', 'score': 4.61}, {'connected_gene': 'RN7SL277P', 'score': 0.44}, {'connected_gene': 'GC01P019361', 'score': 0.22}]
chr1 GH01I019409 19409436 19410972 0.94 [{'connected_gene': 'RNU4-28P', 'score': 10.84}, {'connected_gene': 'CAPZB', 'score': 10.42}, {'connected_gene': 'RN7SL277P', 'score': 0.39}, {'connected_gene': 'GC01P019361', 'score': 0.25}]
chr1 GH01I019582 19582347 19582496 0.7 [{'connected_gene': 'RNU4-28P', 'score': 11.42}, {'connected_gene': 'CAPZB', 'score': 10.95}, {'connected_gene': 'GC01P019599', 'score': 0.39}, {'connected_gene': 'LOC105376817', 'score': 0.23}]
chr1 GH01I019397 19397276 19402749 1.12 [{'connected_gene': 'RNU4-28P', 'score': 10.82}, {'connected_gene': 'NBL1', 'score': 10.8}, {'connected_gene': 'CAPZB', 'score': 10.62}, {'connected_gene': 'AKR7A2', 'score': 9.21}, {'connected_gene': 'PQLC2', 'score': 6.28}, {'connected_gene': 'RN7SL277P', 'score': 0.34}, {'connected_gene': 'GC01P019361', 'score': 0.28}]
chr1 GH01I019412 19412415 19412530 0.4 [{'connected_gene': 'RNU4-28P', 'score': 10.43}, {'connected_gene': 'HTR6', 'score': 10.21}, {'connected_gene': 'RN7SL277P', 'score': 0.39}, {'connected_gene': 'GC01P019361', 'score': 0.23}, {'connected_gene': 'CAPZB', 'score': 0.19}]
chr1 GH01I019421 19421198 19422103 0.31 [{'connected_gene': 'RNU4-28P', 'score': 10.28}, {'connected_gene': 'HTR6', 'score': 10.2}, {'connected_gene': 'RN7SL277P', 'score': 0.77}, {'connected_gene': 'GC01P019361', 'score': 0.22}, {'connected_gene': 'CAPZB', 'score': 0.21}]
chr1 GH01I019511 19511001 19511200 0.38 [{'connected_gene': 'RNU4-28P', 'score': 550.77}, {'connected_gene': 'LOC105376818', 'score': 550.77}, {'connected_gene': 'NBL1', 'score': 6.68}, {'connected_gene': 'CAPZB', 'score': 6.16}, {'connected_gene': 'LOC105376819', 'score': 0.39}]
chr1 GH01I019513 19511401 19511600 0.38 [{'connected_gene': 'RNU4-28P', 'score': 550.77}, {'connected_gene': 'LOC105376818', 'score': 550.77}, {'connected_gene': 'NBL1', 'score': 6.87}, {'connected_gene': 'CAPZB', 'score': 6.16}, {'connected_gene': 'LOC105376819', 'score': 0.39}]
chr1 GH01I019389 19389839 19394075 1.25 [{'connected_gene': 'LOC105378614', 'score': 11.87}, {'connected_gene': 'MINOS1', 'score': 11.87}, {'connected_gene': 'CAPZB', 'score': 11.85}, {'connected_gene': 'RNU4-28P', 'score': 11.13}, {'connected_gene': 'PQLC2', 'score': 9.6}, {'connected_gene': 'AKR7A2', 'score': 9.55}, {'connected_gene': 'AKR7A3', 'score': 9.0}, {'connected_gene': 'RN7SL277P', 'score': 0.29}, {'connected_gene': 'GC01P019361', 'score': 0.29}]
chr1 GH01I019512 19512653 19512933 0.63 [{'connected_gene': 'LOC105376818', 'score': 550.77}, {'connected_gene': 'NBL1', 'score': 5.59}, {'connected_gene': 'CAPZB', 'score': 2.5}, {'connected_gene': 'AKR7A2', 'score': 1.53}, {'connected_gene': 'LOC105376819', 'score': 0.39}, {'connected_gene': 'LOC105376817', 'score': 0.37}]
chr1 GH01I019347 19347401 19348200 0.74 [{'connected_gene': 'GC01M019346', 'score': 550.77}, {'connected_gene': 'CAPZB', 'score': 17.3}, {'connected_gene': 'HTR6', 'score': 10.67}, {'connected_gene': 'RNU4-28P', 'score': 10.3}, {'connected_gene': 'PIR41831', 'score': 0.37}]
chr1 GH01I019353 19353707 19353896 0.69 [{'connected_gene': 'GC01P019355', 'score': 550.77}, {'connected_gene': 'GC01M019346', 'score': 0.77}, {'connected_gene': 'CAPZB', 'score': 0.12}]
chr1 GH01I019359 19359448 19362325 0.63 [{'connected_gene': 'GC01P019361', 'score': 550.77}, {'connected_gene': 'RNU4-28P', 'score': 11.01}, {'connected_gene': 'CAPZB', 'score': 8.39}, {'connected_gene': 'PQLC2', 'score': 5.65}, {'connected_gene': 'GC01P019355', 'score': 0.44}]

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