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
ENST00000370801 [[78030184, 78031469], [78031765, 78031866], [78034016, 78034151], [78041752, 78041905], [78044458, 78044554], [78045211, 78045313], [78046682, 78046754], [78047460, 78047576], [78047663, 78047811], [78050201, 78050340], [78097534, 78099090], [78105133, 78105287], [78107068, 78107131], [78107206, 78107340], [78148269, 78148343]] [[78031324, 78031469], [78031765, 78031866], [78034016, 78034151], [78041752, 78041905], [78044458, 78044554], [78045211, 78045313], [78046682, 78046754], [78047460, 78047576], [78047663, 78047811], [78050201, 78050340], [78097534, 78099039]]
ENST00000370798 [[78030572, 78031469], [78031765, 78031866], [78034016, 78034151], [78041752, 78041905], [78044458, 78044554], [78045211, 78045313], [78046682, 78046754], [78047460, 78047576], [78047663, 78047811], [78050201, 78050340], [78105133, 78105287], [78107068, 78107131], [78107206, 78107340], [78148946, 78149104]] [[78031324, 78031469], [78031765, 78031866], [78034016, 78034151], [78041752, 78041905], [78044458, 78044554], [78045211, 78045313], [78046682, 78046754], [78047460, 78047576], [78047663, 78047811], [78050201, 78050340], [78105133, 78105156]]
ENST00000433749 [[78098866, 78099090], [78105133, 78105287], [78107206, 78107340], [78148269, 78148360]] [[78098866, 78099039]]
ENST00000414381 [[78098930, 78099090], [78105133, 78105287], [78107206, 78107340], [78148946, 78149059]] [[78098930, 78099039]]
ENST00000463166 [[78098996, 78099090], [78105133, 78105287], [78107068, 78107131], [78107206, 78107340], [78148946, 78149088]] None
ENST00000469944 [[78106638, 78107131], [78107206, 78107340], [78148269, 78148328]] None
ENST00000481346 [[78028100, 78031469], [78031765, 78031866], [78034016, 78034151], [78041752, 78041905], [78044458, 78044554], [78045211, 78045313], [78046682, 78046754], [78047460, 78047573], [78047663, 78047811], [78050201, 78050340], [78097534, 78097606]] None
ENST00000476275 [[78030190, 78031469], [78031765, 78031866], [78034016, 78034151], [78041752, 78041905], [78044458, 78044554], [78045211, 78046754], [78047460, 78047576], [78047663, 78047811], [78050201, 78050340], [78097534, 78098561]] None
ENST00000476195 [[78046702, 78046754], [78047460, 78047573], [78047663, 78047811], [78050201, 78050340], [78050451, 78050728]] None
ENST00000474746 [[78047502, 78047573], [78047663, 78047811], [78050201, 78050340], [78050451, 78050514], [78050593, 78050744]] None
ENST00000458763 [[78142666, 78142995], [78148269, 78148360]] None
NM_015534 [[78028100, 78031469], [78031765, 78031866], [78034016, 78034151], [78041752, 78041905], [78044458, 78044554], [78045211, 78045313], [78046682, 78046754], [78047460, 78047576], [78047663, 78047811], [78050201, 78050340], [78097534, 78099090], [78105133, 78105287], [78107068, 78107131], [78107206, 78107340], [78148269, 78148343]] [[78031324, 78031469], [78031765, 78031866], [78034016, 78034151], [78041752, 78041905], [78044458, 78044554], [78045211, 78045313], [78046682, 78046754], [78047460, 78047576], [78047663, 78047811], [78050201, 78050340], [78097534, 78099039]]
NM_001308237 [[78028100, 78031469], [78031765, 78031866], [78034016, 78034151], [78041752, 78041905], [78044458, 78044554], [78045211, 78045313], [78046682, 78046754], [78047460, 78047576], [78047663, 78047811], [78050201, 78050340], [78105133, 78105287], [78107068, 78107131], [78107206, 78107340], [78148946, 78149112]] [[78031324, 78031469], [78031765, 78031866], [78034016, 78034151], [78041752, 78041905], [78044458, 78044554], [78045211, 78045313], [78046682, 78046754], [78047460, 78047576], [78047663, 78047811], [78050201, 78050340], [78105133, 78105156]]
Promoter
Chrom Start End Description
chr1 78050720 78050734 CAGE_peak_9_at_ZZZ3_5end
chr1 78148324 78148365 CAGE_peak_2_at_ZZZ3_5end
chr1 78149041 78149142 CAGE_peak_1_at_ZZZ3_5end
chr1 78149157 78149168 CAGE_peak_4_at_ZZZ3_5end
chr1 78149224 78149235 CAGE_peak_3_at_ZZZ3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I077975 77975531 77981032 2.3 [{'connected_gene': 'GIPC2', 'score': 558.59}, {'connected_gene': 'DNAJB4', 'score': 550.77}, {'connected_gene': 'FUBP1', 'score': 550.77}, {'connected_gene': 'NSRP1P1', 'score': 16.28}, {'connected_gene': 'ENSG00000273338', 'score': 12.57}, {'connected_gene': 'USP33', 'score': 10.11}, {'connected_gene': 'ZZZ3', 'score': 9.74}, {'connected_gene': 'NEXN', 'score': 6.34}, {'connected_gene': 'NEXN-AS1', 'score': 0.17}]
chr1 GH01I077904 77904171 77905371 0.31 [{'connected_gene': 'MIGA1', 'score': 10.12}, {'connected_gene': 'ACTG1P21', 'score': 10.12}, {'connected_gene': 'RNA5SP21', 'score': 10.11}, {'connected_gene': 'ZZZ3', 'score': 9.75}, {'connected_gene': 'GIPC2', 'score': 7.95}, {'connected_gene': 'NEXN', 'score': 7.14}, {'connected_gene': 'NEXN-AS1', 'score': 0.37}, {'connected_gene': 'DNAJB4', 'score': 0.19}]
chr1 GH01I077425 77425658 77426005 0.33 [{'connected_gene': 'AK5', 'score': 10.61}, {'connected_gene': 'MIGA1', 'score': 3.46}, {'connected_gene': 'ZZZ3', 'score': 1.25}, {'connected_gene': 'GC01P077421', 'score': 0.44}, {'connected_gene': 'GC01P077502', 'score': 0.18}]
chr1 GH01I077533 77533524 77541931 1.26 [{'connected_gene': 'AK5', 'score': 13.43}, {'connected_gene': 'ZZZ3', 'score': 10.74}, {'connected_gene': 'FUBP1', 'score': 5.46}, {'connected_gene': 'GC01P077502', 'score': 0.28}, {'connected_gene': 'GC01P077577', 'score': 0.28}]
chr1 GH01I077509 77509377 77516460 1.33 [{'connected_gene': 'AK5', 'score': 16.52}, {'connected_gene': 'ENSG00000233099', 'score': 10.82}, {'connected_gene': 'RNU7-8P', 'score': 10.67}, {'connected_gene': 'ZZZ3', 'score': 10.14}, {'connected_gene': 'GIPC2', 'score': 5.77}, {'connected_gene': 'FUBP1', 'score': 4.47}, {'connected_gene': 'GC01P077502', 'score': 0.39}, {'connected_gene': 'GC01P077577', 'score': 0.21}]
chr1 GH01I077564 77564506 77565063 0.4 [{'connected_gene': 'AK5', 'score': 10.77}, {'connected_gene': 'RNU7-8P', 'score': 10.01}, {'connected_gene': 'GC01P077577', 'score': 0.39}, {'connected_gene': 'GC01P077502', 'score': 0.21}, {'connected_gene': 'ZZZ3', 'score': 0.13}]
chr1 GH01I077680 77680898 77684896 2.1 [{'connected_gene': 'ZZZ3', 'score': 575.81}, {'connected_gene': 'FUBP1', 'score': 48.24}, {'connected_gene': 'RPL17P6', 'score': 33.4}, {'connected_gene': 'ENSG00000273338', 'score': 10.64}, {'connected_gene': 'NEXN', 'score': 10.3}, {'connected_gene': 'GIPC2', 'score': 7.92}, {'connected_gene': 'AK5', 'score': 7.31}, {'connected_gene': 'DNAJB4', 'score': 6.49}, {'connected_gene': 'RN7SL370P', 'score': 0.28}]
chr1 GH01I077542 77542564 77544214 0.52 [{'connected_gene': 'ZZZ3', 'score': 21.8}, {'connected_gene': 'FUBP1', 'score': 15.31}, {'connected_gene': 'AK5', 'score': 12.83}, {'connected_gene': 'RPL17P6', 'score': 10.67}, {'connected_gene': 'GC01P077577', 'score': 0.29}, {'connected_gene': 'GC01P077502', 'score': 0.26}]
chr1 GH01I077591 77591001 77591600 0.59 [{'connected_gene': 'ZZZ3', 'score': 10.6}, {'connected_gene': 'AK5', 'score': 7.64}, {'connected_gene': 'GC01P077577', 'score': 0.39}, {'connected_gene': 'RNA5SP20', 'score': 0.34}]
chr1 GH01I077604 77604916 77606348 0.94 [{'connected_gene': 'ZZZ3', 'score': 11.44}, {'connected_gene': 'AK5', 'score': 7.76}, {'connected_gene': 'RNA5SP20', 'score': 0.44}, {'connected_gene': 'GC01P077577', 'score': 0.31}]
chr1 GH01I077945 77945486 77945689 0.51 [{'connected_gene': 'ZZZ3', 'score': 9.85}, {'connected_gene': 'DNAJB4', 'score': 0.29}, {'connected_gene': 'FUBP1', 'score': 0.29}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}, {'connected_gene': 'NEXN', 'score': 0.22}]
chr1 GH01I077947 77947335 77947604 0.71 [{'connected_gene': 'ZZZ3', 'score': 9.85}, {'connected_gene': 'DNAJB4', 'score': 0.29}, {'connected_gene': 'FUBP1', 'score': 0.29}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}, {'connected_gene': 'NEXN', 'score': 0.22}]
chr1 GH01I077946 77946449 77946668 0.51 [{'connected_gene': 'ZZZ3', 'score': 9.85}, {'connected_gene': 'DNAJB4', 'score': 0.29}, {'connected_gene': 'FUBP1', 'score': 0.29}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}, {'connected_gene': 'NEXN', 'score': 0.22}]
chr1 GH01I077640 77639733 77639792 0.68 [{'connected_gene': 'ZZZ3', 'score': 560.9}, {'connected_gene': 'RN7SL370P', 'score': 0.44}, {'connected_gene': 'RNA5SP20', 'score': 0.34}]
chr1 GH01I077639 77639196 77639345 0.31 [{'connected_gene': 'ZZZ3', 'score': 10.9}, {'connected_gene': 'RN7SL370P', 'score': 0.44}, {'connected_gene': 'RNA5SP20', 'score': 0.34}]
chr1 GH01I077655 77655456 77655605 0.7 [{'connected_gene': 'ZZZ3', 'score': 12.19}, {'connected_gene': 'RN7SL370P', 'score': 0.39}]
chr1 GH01I077677 77677917 77680658 0.75 [{'connected_gene': 'ZZZ3', 'score': 0.77}, {'connected_gene': 'RN7SL370P', 'score': 0.29}]
chr1 GH01I077561 77561254 77561547 0.22 [{'connected_gene': 'ZZZ3', 'score': 10.34}, {'connected_gene': 'RNU7-8P', 'score': 9.55}, {'connected_gene': 'GIPC2', 'score': 6.92}, {'connected_gene': 'MIGA1', 'score': 2.32}, {'connected_gene': 'GC01P077577', 'score': 0.37}, {'connected_gene': 'GC01P077502', 'score': 0.22}]
chr1 GH01I077529 77529611 77531013 0.2 [{'connected_gene': 'ZZZ3', 'score': 9.66}, {'connected_gene': 'RNU7-8P', 'score': 9.51}, {'connected_gene': 'AK5', 'score': 8.15}, {'connected_gene': 'GC01P077502', 'score': 0.31}, {'connected_gene': 'GC01P077577', 'score': 0.25}]
chr1 GH01I077952 77952257 77953141 0.31 [{'connected_gene': 'ZZZ3', 'score': 10.41}, {'connected_gene': 'ACTG1P21', 'score': 9.62}, {'connected_gene': 'RNA5SP21', 'score': 9.62}, {'connected_gene': 'MIGA1', 'score': 9.62}, {'connected_gene': 'NEXN', 'score': 5.56}, {'connected_gene': 'DNAJB4', 'score': 0.31}, {'connected_gene': 'FUBP1', 'score': 0.31}, {'connected_gene': 'NEXN-AS1', 'score': 0.21}]
chr1 GH01I077756 77756998 77760552 2.03 [{'connected_gene': 'USP33', 'score': 550.77}, {'connected_gene': 'AK5', 'score': 7.31}, {'connected_gene': 'FUBP1', 'score': 4.9}, {'connected_gene': 'ZZZ3', 'score': 0.18}]
chr1 GH01I077671 77671712 77673346 0.54 [{'connected_gene': 'USP33', 'score': 10.71}, {'connected_gene': 'AK5', 'score': 7.32}, {'connected_gene': 'GIPC2', 'score': 5.31}, {'connected_gene': 'ZZZ3', 'score': 0.39}, {'connected_gene': 'RN7SL370P', 'score': 0.31}]
chr1 GH01I077673 77673401 77673600 0.43 [{'connected_gene': 'USP33', 'score': 10.71}, {'connected_gene': 'ZZZ3', 'score': 0.44}, {'connected_gene': 'RN7SL370P', 'score': 0.31}]
chr1 GH01I078002 78002645 78011212 2.76 [{'connected_gene': 'DNAJB4', 'score': 561.9}, {'connected_gene': 'NSRP1P1', 'score': 25.46}, {'connected_gene': 'FUBP1', 'score': 23.06}, {'connected_gene': 'ENSG00000273338', 'score': 13.03}, {'connected_gene': 'USP33', 'score': 11.91}, {'connected_gene': 'ZZZ3', 'score': 9.73}, {'connected_gene': 'GIPC2', 'score': 7.43}, {'connected_gene': 'NEXN', 'score': 6.05}, {'connected_gene': 'LOC100131495', 'score': 0.28}]
chr1 GH01I078619 78619040 78622863 1.86 [{'connected_gene': 'IFI44L', 'score': 550.77}, {'connected_gene': 'ZZZ3', 'score': 53.71}, {'connected_gene': 'ENSG00000273338', 'score': 42.24}, {'connected_gene': 'NSRP1P1', 'score': 38.95}, {'connected_gene': 'FUBP1', 'score': 37.61}, {'connected_gene': 'USP33', 'score': 20.4}, {'connected_gene': 'IFI44', 'score': 12.52}]
chr1 GH01I077686 77686783 77688200 0.72 [{'connected_gene': 'ACTG1P21', 'score': 10.42}, {'connected_gene': 'RNA5SP21', 'score': 10.41}, {'connected_gene': 'MIGA1', 'score': 10.41}, {'connected_gene': 'AK5', 'score': 10.23}, {'connected_gene': 'GIPC2', 'score': 8.88}, {'connected_gene': 'ZZZ3', 'score': 0.77}, {'connected_gene': 'USP33', 'score': 0.19}]
chr1 GH01I077900 77900796 77900945 0.74 [{'connected_gene': 'ACTG1P21', 'score': 10.52}, {'connected_gene': 'RNA5SP21', 'score': 10.52}, {'connected_gene': 'MIGA1', 'score': 10.52}, {'connected_gene': 'ZZZ3', 'score': 9.65}, {'connected_gene': 'NEXN-AS1', 'score': 0.39}, {'connected_gene': 'NEXN', 'score': 0.39}, {'connected_gene': 'DNAJB4', 'score': 0.18}]
chr1 GH01I077882 77882438 77882743 0.26 [{'connected_gene': 'GC01P077888', 'score': 550.77}, {'connected_gene': 'PIR49289', 'score': 550.77}, {'connected_gene': 'GC01P077899', 'score': 550.77}, {'connected_gene': 'GC01P077889', 'score': 550.77}, {'connected_gene': 'GC01P077900', 'score': 550.77}, {'connected_gene': 'MIGA1', 'score': 3.09}, {'connected_gene': 'ZZZ3', 'score': 1.63}, {'connected_gene': 'NEXN-AS1', 'score': 0.44}, {'connected_gene': 'HSPE1P25', 'score': 0.31}]
chr1 GH01I077039 77039356 77040877 0.59 [{'connected_gene': 'ENSG00000230498', 'score': 11.93}, {'connected_gene': 'ZZZ3', 'score': 5.24}, {'connected_gene': 'MIR7156', 'score': 0.34}, {'connected_gene': 'GC01P076887', 'score': 0.1}, {'connected_gene': 'ST6GALNAC5', 'score': 0.09}]