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
ENST00000320631 [[64619113, 64622329], [64622793, 64622958], [64627395, 64627808], [64641892, 64641990], [64645532, 64646191]] [[64621804, 64622329], [64622793, 64622958], [64627395, 64627808], [64641892, 64641990], [64645532, 64645936]]
ENST00000484846 [[64620202, 64622329], [64622793, 64624135]] None
ENST00000359393 [[64620202, 64622329], [64622793, 64622958], [64627395, 64627808], [64641892, 64641990], [64645532, 64645959], [64646306, 64646628], [64647083, 64647149]] [[64621804, 64622329], [64622793, 64622958], [64627395, 64627808], [64641892, 64641990], [64645532, 64645936]]
ENST00000488711 [[64621763, 64622329], [64622485, 64622567]] None
ENST00000421510 [[64622083, 64622329], [64622793, 64622958], [64627395, 64627808], [64641892, 64641990], [64645296, 64645389]] [[64622083, 64622329], [64622793, 64622958], [64627395, 64627808], [64641892, 64641986]]
ENST00000498472 [[64622523, 64622958], [64627395, 64627517]] None
ENST00000433803 [[64622793, 64622958], [64627395, 64627808], [64641892, 64641990], [64645532, 64645959], [64647083, 64647171]] [[64622793, 64622958], [64627395, 64627808], [64641892, 64641990], [64645532, 64645959], [64647083, 64647102]]
ENST00000466015 [[64627097, 64627808], [64641892, 64641990], [64645532, 64646013]] None
ENST00000455148 [[64627416, 64627808], [64641892, 64641990], [64643082, 64643138]] [[64627416, 64627808], [64641892, 64641986]]
ENST00000457202 [[64641949, 64641990], [64645532, 64645956], [64655699, 64655768]] [[64641949, 64641990], [64645532, 64645936]]
ENST00000411683 [[64641959, 64641990], [64645532, 64645959], [64647073, 64647172]] [[64641959, 64641990], [64645532, 64645936]]
ENST00000489379 [[64646110, 64646628], [64647083, 64647153]] None
NM_006795 [[64620198, 64622329], [64622793, 64622958], [64627395, 64627808], [64641892, 64641990], [64645532, 64646240]] [[64621804, 64622329], [64622793, 64622958], [64627395, 64627808], [64641892, 64641990], [64645532, 64645936]]
NM_001282444 [[64620198, 64622329], [64622793, 64622958], [64627395, 64627808], [64641892, 64641990], [64645532, 64645959], [64646306, 64646628], [64647083, 64647185]] [[64621804, 64622329], [64622793, 64622958], [64627395, 64627808], [64641892, 64641990], [64645532, 64645936]]
NM_001282445 [[64620198, 64622329], [64622793, 64622958], [64627395, 64627808], [64641892, 64641990], [64645532, 64645959], [64647083, 64647185]] [[64621804, 64622329], [64622793, 64622958], [64627395, 64627808], [64641892, 64641990], [64645532, 64645959], [64647083, 64647102]]
Promoter
Chrom Start End Description
chr11 64622267 64622311 CAGE_peak_7_at_EHD1_5end
chr11 64622524 64622547 CAGE_peak_6_at_EHD1_5end
chr11 64624138 64624162 CAGE_peak_8_at_EHD1_5end
chr11 64624165 64624197 CAGE_peak_5_at_EHD1_5end
chr11 64624198 64624216 CAGE_peak_4_at_EHD1_5end
chr11 64627437 64627457 CAGE_peak_10_at_EHD1_5end
chr11 64627581 64627594 CAGE_peak_9_at_EHD1_5end
chr11 64627800 64627813 CAGE_peak_14_at_EHD1_5end
chr11 64643122 64643140 CAGE_peak_33_at_EHD1_5end
chr11 64645991 64646005 CAGE_peak_2_at_EHD1_5end
chr11 64646043 64646055 CAGE_peak_3_at_EHD1_5end
chr11 64646086 64646101 CAGE_peak_1_at_EHD1_5end
chr11 64647137 64647140 CAGE_peak_36_at_EHD1_5end
chr11 64647144 64647170 CAGE_peak_12_at_EHD1_5end
chr11 64647177 64647178 CAGE_peak_43_at_EHD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I064841 64841546 64845844 2.26 [{'connected_gene': 'CDC42BPG', 'score': 554.87}, {'connected_gene': 'SF1', 'score': 31.79}, {'connected_gene': 'POLA2', 'score': 26.52}, {'connected_gene': 'ZFPL1', 'score': 24.35}, {'connected_gene': 'PLCB3', 'score': 20.51}, {'connected_gene': 'PCNX3', 'score': 19.19}, {'connected_gene': 'ENSG00000257086', 'score': 14.05}, {'connected_gene': 'KAT5', 'score': 12.57}, {'connected_gene': 'EHD1', 'score': 12.53}, {'connected_gene': 'MEN1', 'score': 12.02}, {'connected_gene': 'MAP4K2', 'score': 11.99}, {'connected_gene': 'SCYL1', 'score': 11.04}, {'connected_gene': 'RELA', 'score': 10.56}, {'connected_gene': 'NAALADL1', 'score': 10.41}, {'connected_gene': 'SSSCA1', 'score': 10.26}, {'connected_gene': 'FRMD8', 'score': 10.13}, {'connected_gene': 'ATG2A', 'score': 9.86}]
chr11 GH11I064793 64793151 64794940 0.31 [{'connected_gene': 'CDC42BPG', 'score': 12.13}, {'connected_gene': 'EHD1', 'score': 11.11}, {'connected_gene': 'MEN1', 'score': 6.77}, {'connected_gene': 'GC11P064802', 'score': 0.44}, {'connected_gene': 'GC11M064785', 'score': 0.44}, {'connected_gene': 'MAP4K2', 'score': 0.44}]
chr11 GH11I065065 65065979 65068270 0.87 [{'connected_gene': 'SNX15', 'score': 28.3}, {'connected_gene': 'ARL2', 'score': 11.84}, {'connected_gene': 'VPS51', 'score': 11.57}, {'connected_gene': 'ENSG00000254501', 'score': 11.49}, {'connected_gene': 'TM7SF2', 'score': 11.49}, {'connected_gene': 'CDC42BPG', 'score': 10.68}, {'connected_gene': 'MAJIN', 'score': 10.25}, {'connected_gene': 'EHD1', 'score': 9.55}, {'connected_gene': 'MEN1', 'score': 4.79}, {'connected_gene': 'LOC728975', 'score': 4.57}, {'connected_gene': 'GC11M065053', 'score': 0.44}, {'connected_gene': 'PIR38481', 'score': 0.39}, {'connected_gene': 'GC11M065079', 'score': 0.39}, {'connected_gene': 'CDCA5', 'score': 0.37}]
chr11 GH11I065069 65069181 65069952 0.74 [{'connected_gene': 'SNX15', 'score': 21.73}, {'connected_gene': 'ARL2', 'score': 11.83}, {'connected_gene': 'ENSG00000254501', 'score': 11.49}, {'connected_gene': 'TM7SF2', 'score': 11.49}, {'connected_gene': 'CDC42BPG', 'score': 10.68}, {'connected_gene': 'MAJIN', 'score': 10.25}, {'connected_gene': 'EHD1', 'score': 9.55}, {'connected_gene': 'PIR38481', 'score': 0.44}, {'connected_gene': 'GC11M065079', 'score': 0.44}, {'connected_gene': 'GC11M065053', 'score': 0.44}, {'connected_gene': 'CDCA5', 'score': 0.39}]
chr11 GH11I064970 64970229 64972698 1.76 [{'connected_gene': 'MAJIN', 'score': 555.38}, {'connected_gene': 'ARL2', 'score': 20.54}, {'connected_gene': 'GPHA2', 'score': 15.43}, {'connected_gene': 'SSSCA1-AS1', 'score': 12.72}, {'connected_gene': 'SNX15', 'score': 11.55}, {'connected_gene': 'RNASEH2C', 'score': 11.33}, {'connected_gene': 'EHD1', 'score': 10.88}, {'connected_gene': 'ENSG00000269038', 'score': 10.28}, {'connected_gene': 'MEN1', 'score': 10.25}, {'connected_gene': 'TRMT112', 'score': 9.93}, {'connected_gene': 'EEF1A1P18', 'score': 6.05}, {'connected_gene': 'CCDC88B', 'score': 5.66}, {'connected_gene': 'PPP2R5B', 'score': 5.39}, {'connected_gene': 'CAPN1', 'score': 4.4}]
chr11 GH11I065274 65274670 65277312 1.63 [{'connected_gene': 'POLA2', 'score': 8.9}, {'connected_gene': 'LOC728975', 'score': 7.88}, {'connected_gene': 'CAPN1', 'score': 4.78}, {'connected_gene': 'CDC42EP2', 'score': 3.32}, {'connected_gene': 'MAJIN', 'score': 2.12}, {'connected_gene': 'EHD1', 'score': 1.24}, {'connected_gene': 'LOC105369344', 'score': 0.28}]
chr11 GH11I065288 65288536 65303058 1.68 [{'connected_gene': 'POLA2', 'score': 21.02}, {'connected_gene': 'EHD1', 'score': 20.84}, {'connected_gene': 'LOC728975', 'score': 18.49}, {'connected_gene': 'SLC25A45', 'score': 12.95}, {'connected_gene': 'DPF2', 'score': 11.84}, {'connected_gene': 'FRMD8', 'score': 11.34}, {'connected_gene': 'ENSG00000255478', 'score': 11.15}, {'connected_gene': 'SPDYC', 'score': 11.01}, {'connected_gene': 'CAPN1', 'score': 10.86}, {'connected_gene': 'PGAM1P8', 'score': 10.86}, {'connected_gene': 'ENSG00000254501', 'score': 10.15}, {'connected_gene': 'TM7SF2', 'score': 10.15}, {'connected_gene': 'VPS51', 'score': 10.14}, {'connected_gene': 'CDC42EP2', 'score': 10.06}, {'connected_gene': 'MIR612', 'score': 10.04}, {'connected_gene': 'RELA', 'score': 9.87}, {'connected_gene': 'EHBP1L1', 'score': 8.06}, {'connected_gene': 'BATF2', 'score': 6.95}, {'connected_gene': 'AP5B1', 'score': 6.55}, {'connected_gene': 'NEAT1', 'score': 4.27}, {'connected_gene': 'KAT5', 'score': 3.6}, {'connected_gene': 'MAP3K11', 'score': 3.08}, {'connected_gene': 'FAU', 'score': 2.85}, {'connected_gene': 'LOC105369344', 'score': 0.37}]
chr11 GH11I065307 65307802 65309399 1.36 [{'connected_gene': 'POLA2', 'score': 28.8}, {'connected_gene': 'EHD1', 'score': 24.41}, {'connected_gene': 'BATF2', 'score': 21.52}, {'connected_gene': 'DPF2', 'score': 12.19}, {'connected_gene': 'RELA', 'score': 10.85}, {'connected_gene': 'CDC42EP2', 'score': 8.6}, {'connected_gene': 'LOC728975', 'score': 6.79}, {'connected_gene': 'EHBP1L1', 'score': 6.4}, {'connected_gene': 'AP5B1', 'score': 6.22}, {'connected_gene': 'FAU', 'score': 2.78}, {'connected_gene': 'KAT5', 'score': 2.52}, {'connected_gene': 'MAP3K11', 'score': 2.39}, {'connected_gene': 'SLC25A45', 'score': 1.3}, {'connected_gene': 'LOC105369344', 'score': 0.44}]
chr11 GH11I064884 64884930 64886670 1.72 [{'connected_gene': 'ATG2A', 'score': 12.35}, {'connected_gene': 'EHD1', 'score': 12.23}, {'connected_gene': 'PCNX3', 'score': 11.94}, {'connected_gene': 'SF1', 'score': 7.22}, {'connected_gene': 'CDC42BPG', 'score': 6.82}, {'connected_gene': 'TIGD3', 'score': 3.73}, {'connected_gene': 'RASGRP2', 'score': 2.18}, {'connected_gene': 'MAP4K2', 'score': 1.64}, {'connected_gene': 'PYGM', 'score': 1.22}, {'connected_gene': 'RPS16P6', 'score': 0.77}]
chr11 GH11I064874 64874247 64881311 2.28 [{'connected_gene': 'EHD1', 'score': 550.39}, {'connected_gene': 'ZFPL1', 'score': 14.57}, {'connected_gene': 'PCNX3', 'score': 13.0}, {'connected_gene': 'TRMT112', 'score': 12.21}, {'connected_gene': 'SF1', 'score': 12.04}, {'connected_gene': 'FRMD8', 'score': 11.0}, {'connected_gene': 'PLCB3', 'score': 10.83}, {'connected_gene': 'KAT5', 'score': 10.74}, {'connected_gene': 'FAU', 'score': 10.35}, {'connected_gene': 'POLA2', 'score': 10.34}, {'connected_gene': 'RELA', 'score': 9.96}, {'connected_gene': 'CDC42BPG', 'score': 6.61}, {'connected_gene': 'PPP1R14B', 'score': 4.87}, {'connected_gene': 'SNX15', 'score': 4.52}, {'connected_gene': 'RPS16P6', 'score': 0.77}]
chr11 GH11I064846 64846749 64867357 1.83 [{'connected_gene': 'EHD1', 'score': 55.42}, {'connected_gene': 'MAP4K2', 'score': 13.31}, {'connected_gene': 'MIR192', 'score': 12.44}, {'connected_gene': 'MEN1', 'score': 12.2}, {'connected_gene': 'MAJIN', 'score': 10.5}, {'connected_gene': 'GPHA2', 'score': 10.45}, {'connected_gene': 'MAP3K11', 'score': 9.76}, {'connected_gene': 'CDC42EP2', 'score': 7.62}, {'connected_gene': 'CDC42BPG', 'score': 6.02}, {'connected_gene': 'NEAT1', 'score': 5.49}, {'connected_gene': 'ARL2', 'score': 5.35}, {'connected_gene': 'SNX15', 'score': 4.42}, {'connected_gene': 'LOC101927789', 'score': 4.27}, {'connected_gene': 'ATG2A', 'score': 4.1}, {'connected_gene': 'SF1', 'score': 3.8}, {'connected_gene': 'RASGRP2', 'score': 2.39}, {'connected_gene': 'FAU', 'score': 2.14}, {'connected_gene': 'BATF2', 'score': 1.7}, {'connected_gene': 'TIGD3', 'score': 1.59}, {'connected_gene': 'RPS16P6', 'score': 0.34}]
chr11 GH11I064867 64867579 64873793 1.7 [{'connected_gene': 'EHD1', 'score': 31.48}, {'connected_gene': 'EEF1A1P18', 'score': 5.38}, {'connected_gene': 'CDC42EP2', 'score': 5.23}, {'connected_gene': 'ARL2', 'score': 4.67}, {'connected_gene': 'SNX15', 'score': 4.48}, {'connected_gene': 'FLRT1', 'score': 4.4}, {'connected_gene': 'NEAT1', 'score': 4.27}, {'connected_gene': 'LOC101927789', 'score': 4.27}, {'connected_gene': 'SF1', 'score': 2.54}, {'connected_gene': 'FAU', 'score': 1.84}, {'connected_gene': 'RASGRP2', 'score': 1.79}, {'connected_gene': 'ATG2A', 'score': 1.75}, {'connected_gene': 'RPS16P6', 'score': 0.39}, {'connected_gene': 'CDC42BPG', 'score': 0.31}]
chr11 GH11I064447 64447683 64450200 1.34 [{'connected_gene': 'LOC100996455', 'score': 550.77}, {'connected_gene': 'NRXN2', 'score': 11.8}, {'connected_gene': 'SLC22A12', 'score': 11.13}, {'connected_gene': 'FERMT3', 'score': 5.6}, {'connected_gene': 'TRMT112', 'score': 5.08}, {'connected_gene': 'EHD1', 'score': 4.87}, {'connected_gene': 'CCDC88B', 'score': 2.69}, {'connected_gene': 'OTUB1', 'score': 1.53}, {'connected_gene': 'RASGRP2', 'score': 1.37}, {'connected_gene': 'SF1', 'score': 1.31}, {'connected_gene': 'GC11P064445', 'score': 0.77}]
chr11 GH11I064881 64881473 64884358 0.49 [{'connected_gene': 'RPS16P6', 'score': 550.77}, {'connected_gene': 'NEAT1', 'score': 4.32}, {'connected_gene': 'EHD1', 'score': 0.44}]
chr11 GH11I064886 64886925 64895143 1.5 [{'connected_gene': 'GC11M064954', 'score': 550.77}, {'connected_gene': 'MIR192', 'score': 550.77}, {'connected_gene': 'GC11M064957', 'score': 550.77}, {'connected_gene': 'MIR194-2', 'score': 550.77}, {'connected_gene': 'MAJIN', 'score': 11.18}, {'connected_gene': 'EEF1A1P18', 'score': 5.83}, {'connected_gene': 'ARL2', 'score': 5.5}, {'connected_gene': 'CDC42BPG', 'score': 5.47}, {'connected_gene': 'SPDYC', 'score': 5.26}, {'connected_gene': 'PLCB3', 'score': 4.42}, {'connected_gene': 'NEAT1', 'score': 4.13}, {'connected_gene': 'LOC101927789', 'score': 3.82}, {'connected_gene': 'GC11P064900', 'score': 0.77}, {'connected_gene': 'MIR194-2HG', 'score': 0.77}, {'connected_gene': 'EHD1', 'score': 0.77}, {'connected_gene': 'GC11M064946', 'score': 0.77}, {'connected_gene': 'ATG2A', 'score': 0.31}]

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