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
ENST00000484302 [[46671638, 46674034], [46675097, 46675622], [46681841, 46682354]] [[46673774, 46674034], [46675097, 46675512]]
ENST00000225648 [[46673114, 46674034], [46675097, 46675590], [46681841, 46681977], [46682223, 46682334]] [[46673774, 46674034], [46675097, 46675512]]
ENST00000470193 [[46673889, 46674034], [46674270, 46674496]] None
ENST00000490419 [[46675572, 46675622], [46681076, 46681494]] None
NM_018952 [[46673098, 46674034], [46675097, 46675590], [46681841, 46681977], [46682223, 46682334]] [[46673774, 46674034], [46675097, 46675512]]
Promoter
Chrom Start End Description
chr17 46675344 46675355 CAGE_peak_9_at_HOXB6_5end
chr17 46675420 46675465 CAGE_peak_3_at_HOXB6_5end
chr17 46675469 46675481 CAGE_peak_4_at_HOXB6_5end
chr17 46675539 46675551 CAGE_peak_7_at_HOXB6_5end
chr17 46675558 46675577 CAGE_peak_2_at_HOXB6_5end
chr17 46675586 46675600 CAGE_peak_6_at_HOXB6_5end
chr17 46675608 46675618 CAGE_peak_10_at_HOXB6_5end
chr17 46675619 46675642 CAGE_peak_5_at_HOXB6_5end
chr17 46682321 46682362 CAGE_peak_1_at_HOXB6_5end
chr17 46682368 46682373 CAGE_peak_12_at_HOXB6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I047872 47872107 47873752 1.16 [{'connected_gene': 'SCRN2', 'score': 28.57}, {'connected_gene': 'CALCOCO2', 'score': 15.61}, {'connected_gene': 'SP2', 'score': 11.89}, {'connected_gene': 'OSBPL7', 'score': 11.21}, {'connected_gene': 'PRR15L', 'score': 10.96}, {'connected_gene': 'LRRC46', 'score': 10.86}, {'connected_gene': 'HOXB4', 'score': 10.57}, {'connected_gene': 'ENSG00000266601', 'score': 10.56}, {'connected_gene': 'HOXB6', 'score': 10.17}, {'connected_gene': 'MRPL10', 'score': 6.51}, {'connected_gene': 'SP6', 'score': 0.77}, {'connected_gene': 'ENSG00000264243', 'score': 0.44}]
chr17 GH17I047828 47828225 47832410 2.27 [{'connected_gene': 'LRRC46', 'score': 577.18}, {'connected_gene': 'MRPL10', 'score': 565.01}, {'connected_gene': 'SCRN2', 'score': 24.83}, {'connected_gene': 'MRPL45P2', 'score': 16.4}, {'connected_gene': 'OSBPL7', 'score': 13.83}, {'connected_gene': 'SKAP1', 'score': 11.93}, {'connected_gene': 'SP2', 'score': 11.3}, {'connected_gene': 'HOXB4', 'score': 10.56}, {'connected_gene': 'ENSG00000266601', 'score': 10.5}, {'connected_gene': 'PRR15L', 'score': 10.23}, {'connected_gene': 'HOXB6', 'score': 10.17}, {'connected_gene': 'CDC27', 'score': 10.01}, {'connected_gene': 'PIR55502', 'score': 0.44}]
chr17 GH17I048001 48001202 48005599 1.67 [{'connected_gene': 'PRR15L', 'score': 24.86}, {'connected_gene': 'CALCOCO2', 'score': 15.61}, {'connected_gene': 'SP2', 'score': 12.19}, {'connected_gene': 'PNPO', 'score': 11.0}, {'connected_gene': 'SP2-AS1', 'score': 11.0}, {'connected_gene': 'HOXB4', 'score': 10.57}, {'connected_gene': 'ENSG00000266601', 'score': 10.54}, {'connected_gene': 'NFE2L1', 'score': 10.33}, {'connected_gene': 'CBX1', 'score': 10.18}, {'connected_gene': 'SNX11', 'score': 10.18}, {'connected_gene': 'HOXB6', 'score': 10.18}, {'connected_gene': 'COPZ2', 'score': 9.74}, {'connected_gene': 'KPNB1', 'score': 9.73}, {'connected_gene': 'TBKBP1', 'score': 8.71}, {'connected_gene': 'SCRN2', 'score': 7.7}, {'connected_gene': 'TBX21', 'score': 2.8}, {'connected_gene': 'CDK5RAP3', 'score': 1.87}, {'connected_gene': 'NPEPPS', 'score': 1.18}, {'connected_gene': 'ENSG00000264701', 'score': 0.44}, {'connected_gene': 'GC17P048037', 'score': 0.29}]
chr17 GH17I049190 49190723 49194755 1.71 [{'connected_gene': 'TRQ-TTG1-1', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 155.62}, {'connected_gene': 'UBE2Z', 'score': 119.93}, {'connected_gene': 'FAM117A', 'score': 62.8}, {'connected_gene': 'FLJ45513', 'score': 52.73}, {'connected_gene': 'ENSG00000230532', 'score': 44.34}, {'connected_gene': 'KAT7', 'score': 30.69}, {'connected_gene': 'TAC4', 'score': 27.97}, {'connected_gene': 'PICART1', 'score': 27.03}, {'connected_gene': 'CALCOCO2', 'score': 25.22}, {'connected_gene': 'NXPH3', 'score': 18.13}, {'connected_gene': 'B4GALNT2', 'score': 15.14}, {'connected_gene': 'PHOSPHO1', 'score': 12.63}, {'connected_gene': 'SUMO2P17', 'score': 11.94}, {'connected_gene': 'HOXB4', 'score': 10.57}, {'connected_gene': 'SPOP', 'score': 10.47}, {'connected_gene': 'HOXB6', 'score': 10.18}, {'connected_gene': 'SNF8', 'score': 10.17}, {'connected_gene': 'ENSG00000250751', 'score': 10.16}, {'connected_gene': 'LOC101927166', 'score': 9.82}, {'connected_gene': 'SAMD14', 'score': 9.71}, {'connected_gene': 'ABI3', 'score': 5.26}, {'connected_gene': 'GNGT2', 'score': 3.59}, {'connected_gene': 'ZNF652', 'score': 1.8}]
chr17 GH17I047894 47894238 47898278 2.3 [{'connected_gene': 'SP2', 'score': 576.18}, {'connected_gene': 'LOC102724532', 'score': 564.04}, {'connected_gene': 'ENSG00000266601', 'score': 39.88}, {'connected_gene': 'KPNB1', 'score': 30.29}, {'connected_gene': 'EFCAB13', 'score': 19.84}, {'connected_gene': 'CALCOCO2', 'score': 15.61}, {'connected_gene': 'SKAP1', 'score': 12.51}, {'connected_gene': 'MRPL45P2', 'score': 11.49}, {'connected_gene': 'HOXB4', 'score': 10.57}, {'connected_gene': 'ENSG00000263766', 'score': 10.5}, {'connected_gene': 'ENSG00000263412', 'score': 10.45}, {'connected_gene': 'ENSG00000264701', 'score': 10.45}, {'connected_gene': 'HOXB6', 'score': 10.17}, {'connected_gene': 'CDC27', 'score': 9.98}, {'connected_gene': 'RPS2P47', 'score': 9.81}, {'connected_gene': 'PNPO', 'score': 8.93}, {'connected_gene': 'CDK5RAP3', 'score': 5.23}, {'connected_gene': 'PIR62772', 'score': 0.44}, {'connected_gene': 'SP2-AS1', 'score': 0.25}]
chr17 GH17I048906 48906607 48911013 2.31 [{'connected_gene': 'UBE2Z', 'score': 590.9}, {'connected_gene': 'SUMO2P17', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 19.89}, {'connected_gene': 'ENSG00000266601', 'score': 19.02}, {'connected_gene': 'ATP5MC1', 'score': 17.66}, {'connected_gene': 'CALCOCO2', 'score': 15.77}, {'connected_gene': 'FAM117A', 'score': 11.47}, {'connected_gene': 'ENSG00000264701', 'score': 11.21}, {'connected_gene': 'ENSG00000230532', 'score': 11.03}, {'connected_gene': 'SNF8', 'score': 10.97}, {'connected_gene': 'RNU1-42P', 'score': 10.95}, {'connected_gene': 'HOXB4', 'score': 10.59}, {'connected_gene': 'HOXB6', 'score': 10.2}, {'connected_gene': 'FLJ45513', 'score': 10.14}, {'connected_gene': 'NFE2L1', 'score': 3.94}]
chr17 GH17I048623 48623432 48629868 2 [{'connected_gene': 'HOXB9', 'score': 560.38}, {'connected_gene': 'ENSG00000264701', 'score': 12.73}, {'connected_gene': 'ENSG00000230532', 'score': 11.87}, {'connected_gene': 'CDK5RAP3', 'score': 11.03}, {'connected_gene': 'PRAC2', 'score': 9.56}, {'connected_gene': 'PRAC1', 'score': 9.56}, {'connected_gene': 'HOXB13', 'score': 9.52}, {'connected_gene': 'LOC105371811', 'score': 9.51}, {'connected_gene': 'HOXB2', 'score': 8.9}, {'connected_gene': 'HOXB8', 'score': 4.92}, {'connected_gene': 'HOXB5', 'score': 2.52}, {'connected_gene': 'HOXB6', 'score': 2.51}, {'connected_gene': 'HOXB7', 'score': 2.2}, {'connected_gene': 'HOXB3', 'score': 1.57}, {'connected_gene': 'SNF8', 'score': 1.23}, {'connected_gene': 'PIR60728', 'score': 0.77}, {'connected_gene': 'HOXB-AS4', 'score': 0.77}]
chr17 GH17I048307 48307919 48308068 0.68 [{'connected_gene': 'HOXB6', 'score': 10.16}, {'connected_gene': 'SKAP1', 'score': 10.11}, {'connected_gene': 'HOXB9', 'score': 9.88}, {'connected_gene': 'HOXB-AS4', 'score': 9.88}, {'connected_gene': 'HOXB-AS1', 'score': 9.85}, {'connected_gene': 'HOXB2', 'score': 9.85}, {'connected_gene': 'SNX11', 'score': 9.5}, {'connected_gene': 'CBX1', 'score': 9.49}, {'connected_gene': 'EGID-105371807', 'score': 0.39}, {'connected_gene': 'ENSG00000266222', 'score': 0.19}]
chr17 GH17I048538 48538779 48607552 3.02 [{'connected_gene': 'HOXB2', 'score': 589.8}, {'connected_gene': 'HOXB3', 'score': 564.5}, {'connected_gene': 'HOXB6', 'score': 558.14}, {'connected_gene': 'HOXB4', 'score': 557.76}, {'connected_gene': 'HOXB5', 'score': 554.58}, {'connected_gene': 'PIR47329', 'score': 550.77}, {'connected_gene': 'PIR34300', 'score': 550.77}, {'connected_gene': 'UBE2Z', 'score': 44.27}, {'connected_gene': 'SP2', 'score': 41.54}, {'connected_gene': 'ENSG00000264701', 'score': 40.36}, {'connected_gene': 'CDK5RAP3', 'score': 33.27}, {'connected_gene': 'ENSG00000263412', 'score': 20.95}, {'connected_gene': 'KPNB1', 'score': 18.05}, {'connected_gene': 'SKAP1', 'score': 16.34}, {'connected_gene': 'HOXB9', 'score': 14.67}, {'connected_gene': 'HOXB-AS1', 'score': 12.33}, {'connected_gene': 'HOXB-AS3', 'score': 12.19}, {'connected_gene': 'SUMO2P17', 'score': 11.94}, {'connected_gene': 'LRRC46', 'score': 11.47}, {'connected_gene': 'HOXB-AS4', 'score': 11.23}, {'connected_gene': 'HOXB1', 'score': 11.1}, {'connected_gene': 'HOXB-AS2', 'score': 10.87}, {'connected_gene': 'ENSG00000266601', 'score': 10.36}, {'connected_gene': 'EGID-105371807', 'score': 9.93}, {'connected_gene': 'MIR1203', 'score': 8.92}, {'connected_gene': 'LOC102724532', 'score': 5.52}, {'connected_gene': 'SCRN2', 'score': 5.29}, {'connected_gene': 'SNX11', 'score': 5.16}, {'connected_gene': 'B4GALNT2', 'score': 5.12}, {'connected_gene': 'TTLL6', 'score': 5.04}, {'connected_gene': 'SP6', 'score': 4.62}, {'connected_gene': 'HOXB7', 'score': 4.39}, {'connected_gene': 'HOXB8', 'score': 4.28}, {'connected_gene': 'ENSG00000266821', 'score': 4.07}, {'connected_gene': 'GC17M048578', 'score': 0.77}, {'connected_gene': 'PIR40370', 'score': 0.77}, {'connected_gene': 'PIR53857', 'score': 0.77}, {'connected_gene': 'MIR10A', 'score': 0.44}, {'connected_gene': 'ENSG00000257178', 'score': 0.44}, {'connected_gene': 'PIR56911', 'score': 0.39}, {'connected_gene': 'PIR32705', 'score': 0.39}, {'connected_gene': 'GC17P048587', 'score': 0.39}, {'connected_gene': 'PIR40529', 'score': 0.39}, {'connected_gene': 'PIR49991', 'score': 0.37}, {'connected_gene': 'GC17P048589', 'score': 0.37}, {'connected_gene': 'PIR40384', 'score': 0.34}, {'connected_gene': 'PIR55455', 'score': 0.34}, {'connected_gene': 'PIR58858', 'score': 0.34}, {'connected_gene': 'PIR58910', 'score': 0.34}, {'connected_gene': 'GC17M048596', 'score': 0.34}, {'connected_gene': 'GC17M048544', 'score': 0.31}]
chr17 GH17I047941 47940869 47942844 2.32 [{'connected_gene': 'SP2-AS1', 'score': 560.96}, {'connected_gene': 'PNPO', 'score': 550.77}, {'connected_gene': 'MRPL45P2', 'score': 146.12}, {'connected_gene': 'UBE2Z', 'score': 91.15}, {'connected_gene': 'EFCAB13', 'score': 81.7}, {'connected_gene': 'SP2', 'score': 81.35}, {'connected_gene': 'ENSG00000264701', 'score': 73.21}, {'connected_gene': 'ENSG00000266601', 'score': 57.99}, {'connected_gene': 'CDK5RAP3', 'score': 52.05}, {'connected_gene': 'RPS2P47', 'score': 43.71}, {'connected_gene': 'ENSG00000253347', 'score': 36.97}, {'connected_gene': 'SCRN2', 'score': 29.45}, {'connected_gene': 'CDC27', 'score': 27.93}, {'connected_gene': 'ENSG00000230532', 'score': 23.47}, {'connected_gene': 'KPNB1', 'score': 22.12}, {'connected_gene': 'CBX1', 'score': 21.22}, {'connected_gene': 'CALCOCO2', 'score': 15.61}, {'connected_gene': 'ENSG00000263412', 'score': 14.67}, {'connected_gene': 'LOC102724532', 'score': 11.5}, {'connected_gene': 'HOXB4', 'score': 10.57}, {'connected_gene': 'ENSG00000263766', 'score': 10.5}, {'connected_gene': 'LRRC37A17P', 'score': 10.29}, {'connected_gene': 'HOXB6', 'score': 10.17}, {'connected_gene': 'ENSG00000263798', 'score': 0.77}]

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