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
ENST00000332503 [[46652874, 46654382], [46655224, 46657473]] [[46654083, 46654382], [46655224, 46655681]]
NM_024015 [[46652868, 46654382], [46655224, 46655743]] [[46654083, 46654382], [46655224, 46655681]]
Promoter
Chrom Start End Description
chr17 46655566 46655577 CAGE_peak_5_at_HOXB4_5end
chr17 46655578 46655589 CAGE_peak_4_at_HOXB4_5end
chr17 46655672 46655697 CAGE_peak_3_at_HOXB4_5end
chr17 46655704 46655718 CAGE_peak_2_at_HOXB4_5end
chr17 46655730 46655791 CAGE_peak_1_at_HOXB4_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 GH17I048512 48512916 48513738 0.73 [{'connected_gene': 'SKAP1', 'score': 16.46}, {'connected_gene': 'HOXB-AS1', 'score': 12.5}, {'connected_gene': 'HOXB2', 'score': 12.5}, {'connected_gene': 'HOXB-AS3', 'score': 11.68}, {'connected_gene': 'MIR10A', 'score': 11.17}, {'connected_gene': 'HOXB4', 'score': 11.17}, {'connected_gene': 'HOXB3', 'score': 11.13}, {'connected_gene': 'HOXB-AS2', 'score': 10.79}, {'connected_gene': 'LOC105371808', 'score': 0.39}, {'connected_gene': 'ENSG00000206805', 'score': 0.29}]
chr17 GH17I048471 48471827 48473536 1.2 [{'connected_gene': 'SKAP1', 'score': 11.7}, {'connected_gene': 'HOXB-AS2', 'score': 11.15}, {'connected_gene': 'HOXB3', 'score': 11.09}, {'connected_gene': 'MIR10A', 'score': 10.85}, {'connected_gene': 'HOXB4', 'score': 10.85}, {'connected_gene': 'HOXB-AS1', 'score': 10.85}, {'connected_gene': 'HOXB2', 'score': 10.85}, {'connected_gene': 'HOXB1', 'score': 10.51}, {'connected_gene': 'MIR196A1', 'score': 9.39}, {'connected_gene': 'CDK5RAP3', 'score': 7.08}, {'connected_gene': 'GC17P048482', 'score': 0.44}, {'connected_gene': 'LOC101927166', 'score': 0.31}]
chr17 GH17I048470 48470299 48471248 0.85 [{'connected_gene': 'SKAP1', 'score': 11.7}, {'connected_gene': 'HOXB-AS2', 'score': 11.14}, {'connected_gene': 'HOXB3', 'score': 11.09}, {'connected_gene': 'MIR10A', 'score': 10.85}, {'connected_gene': 'HOXB4', 'score': 10.85}, {'connected_gene': 'HOXB-AS1', 'score': 10.85}, {'connected_gene': 'HOXB2', 'score': 10.85}, {'connected_gene': 'HOXB1', 'score': 10.5}, {'connected_gene': 'MIR196A1', 'score': 9.38}, {'connected_gene': 'GC17P048482', 'score': 0.44}, {'connected_gene': 'LOC101927166', 'score': 0.31}]
chr17 GH17I048746 48746591 48746949 0.49 [{'connected_gene': 'PRAC1', 'score': 16.21}, {'connected_gene': 'IGF2BP1', 'score': 2.03}, {'connected_gene': 'HOXB2', 'score': 1.55}, {'connected_gene': 'HOXB4', 'score': 1.47}, {'connected_gene': 'LOC105371812', 'score': 0.44}, {'connected_gene': 'LOC105371811', 'score': 0.39}]
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 GH17I048491 48491699 48493698 1.68 [{'connected_gene': 'HOXB2', 'score': 30.38}, {'connected_gene': 'SKAP1', 'score': 17.6}, {'connected_gene': 'SP2', 'score': 13.16}, {'connected_gene': 'HOXB4', 'score': 12.15}, {'connected_gene': 'MIR10A', 'score': 12.15}, {'connected_gene': 'HOXB3', 'score': 12.11}, {'connected_gene': 'HOXB1', 'score': 12.09}, {'connected_gene': 'HOXB-AS1', 'score': 11.85}, {'connected_gene': 'HOXB-AS3', 'score': 11.22}, {'connected_gene': 'HOXB-AS2', 'score': 11.19}, {'connected_gene': 'SCRN2', 'score': 11.04}, {'connected_gene': 'ENSG00000266601', 'score': 10.13}, {'connected_gene': 'UBE2Z', 'score': 9.81}, {'connected_gene': 'CDK5RAP3', 'score': 6.39}, {'connected_gene': 'CALCOCO2', 'score': 1.38}, {'connected_gene': 'ENSG00000206805', 'score': 0.39}, {'connected_gene': 'LOC105371808', 'score': 0.29}]
chr17 GH17I048494 48494089 48495077 0.84 [{'connected_gene': 'HOXB2', 'score': 32.78}, {'connected_gene': 'SKAP1', 'score': 17.27}, {'connected_gene': 'MIR10A', 'score': 12.15}, {'connected_gene': 'HOXB4', 'score': 12.15}, {'connected_gene': 'HOXB3', 'score': 12.11}, {'connected_gene': 'HOXB1', 'score': 12.09}, {'connected_gene': 'HOXB-AS1', 'score': 11.86}, {'connected_gene': 'HOXB-AS3', 'score': 11.22}, {'connected_gene': 'HOXB-AS2', 'score': 11.19}, {'connected_gene': 'ENSG00000206805', 'score': 0.37}, {'connected_gene': 'LOC105371808', 'score': 0.29}]
chr17 GH17I048496 48496731 48499577 0.97 [{'connected_gene': 'HOXB2', 'score': 30.82}, {'connected_gene': 'SKAP1', 'score': 17.26}, {'connected_gene': 'HOXB-AS1', 'score': 12.21}, {'connected_gene': 'MIR10A', 'score': 12.15}, {'connected_gene': 'HOXB4', 'score': 12.15}, {'connected_gene': 'HOXB3', 'score': 12.12}, {'connected_gene': 'HOXB1', 'score': 12.11}, {'connected_gene': 'HOXB-AS2', 'score': 11.4}, {'connected_gene': 'HOXB-AS3', 'score': 11.23}, {'connected_gene': 'MIR1203', 'score': 8.9}, {'connected_gene': 'ENSG00000206805', 'score': 0.37}, {'connected_gene': 'LOC105371808', 'score': 0.31}]
chr17 GH17I048510 48510739 48511712 0.73 [{'connected_gene': 'HOXB2', 'score': 31.14}, {'connected_gene': 'SKAP1', 'score': 16.58}, {'connected_gene': 'HOXB-AS1', 'score': 12.5}, {'connected_gene': 'HOXB-AS3', 'score': 11.68}, {'connected_gene': 'MIR10A', 'score': 11.17}, {'connected_gene': 'HOXB4', 'score': 11.17}, {'connected_gene': 'HOXB3', 'score': 11.13}, {'connected_gene': 'HOXB-AS2', 'score': 10.77}, {'connected_gene': 'LOC105371808', 'score': 0.37}, {'connected_gene': 'ENSG00000206805', 'score': 0.29}]
chr17 GH17I048505 48505151 48506935 1.37 [{'connected_gene': 'HOXB2', 'score': 33.56}, {'connected_gene': 'SKAP1', 'score': 21.39}, {'connected_gene': 'HOXB-AS1', 'score': 12.32}, {'connected_gene': 'HOXB1', 'score': 12.3}, {'connected_gene': 'MIR10A', 'score': 11.83}, {'connected_gene': 'HOXB4', 'score': 11.83}, {'connected_gene': 'HOXB3', 'score': 11.8}, {'connected_gene': 'HOXB-AS3', 'score': 11.79}, {'connected_gene': 'HOXB-AS2', 'score': 11.0}, {'connected_gene': 'LOC105371808', 'score': 0.34}, {'connected_gene': 'ENSG00000206805', 'score': 0.31}]
chr17 GH17I048503 48503034 48504675 0.6 [{'connected_gene': 'HOXB2', 'score': 35.96}, {'connected_gene': 'SKAP1', 'score': 16.68}, {'connected_gene': 'HOXB-AS1', 'score': 12.32}, {'connected_gene': 'HOXB1', 'score': 12.27}, {'connected_gene': 'MIR10A', 'score': 11.82}, {'connected_gene': 'HOXB4', 'score': 11.82}, {'connected_gene': 'HOXB3', 'score': 11.79}, {'connected_gene': 'HOXB-AS3', 'score': 11.77}, {'connected_gene': 'HOXB-AS2', 'score': 11.41}, {'connected_gene': 'MIR1203', 'score': 9.6}, {'connected_gene': 'ENSG00000206805', 'score': 0.34}, {'connected_gene': 'LOC105371808', 'score': 0.34}]
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 GH17I048521 48521619 48523875 0.9 [{'connected_gene': 'HOXB2', 'score': 30.36}, {'connected_gene': 'HOXB-AS1', 'score': 11.63}, {'connected_gene': 'HOXB-AS3', 'score': 11.6}, {'connected_gene': 'HOXB-AS2', 'score': 10.71}, {'connected_gene': 'MIR10A', 'score': 10.67}, {'connected_gene': 'HOXB4', 'score': 10.67}, {'connected_gene': 'HOXB3', 'score': 10.62}, {'connected_gene': 'LOC105371808', 'score': 0.77}, {'connected_gene': 'ENSG00000206805', 'score': 0.26}]
chr17 GH17I048500 48500099 48501957 0.88 [{'connected_gene': 'HOXB2', 'score': 19.32}, {'connected_gene': 'HOXB-AS1', 'score': 12.22}, {'connected_gene': 'HOXB1', 'score': 12.13}, {'connected_gene': 'MIR10A', 'score': 11.64}, {'connected_gene': 'HOXB4', 'score': 11.64}, {'connected_gene': 'HOXB3', 'score': 11.61}, {'connected_gene': 'HOXB-AS2', 'score': 11.4}, {'connected_gene': 'HOXB-AS3', 'score': 10.95}, {'connected_gene': 'SKAP1', 'score': 10.66}, {'connected_gene': 'MIR1203', 'score': 8.77}, {'connected_gene': 'ENSG00000206805', 'score': 0.34}, {'connected_gene': 'LOC105371808', 'score': 0.31}]
chr17 GH17I048238 48238538 48245786 1.67 [{'connected_gene': 'SNX11', 'score': 22.64}, {'connected_gene': 'CBX1', 'score': 20.41}, {'connected_gene': 'COPZ2', 'score': 15.86}, {'connected_gene': 'CDK5RAP3', 'score': 14.87}, {'connected_gene': 'ENSG00000230532', 'score': 12.54}, {'connected_gene': 'RNU6-1152P', 'score': 11.58}, {'connected_gene': 'SKAP1', 'score': 11.37}, {'connected_gene': 'MIR1203', 'score': 11.04}, {'connected_gene': 'EGID-105371807', 'score': 10.59}, {'connected_gene': 'SP2-AS1', 'score': 9.79}, {'connected_gene': 'HOXB-AS4', 'score': 9.71}, {'connected_gene': 'HOXB9', 'score': 9.71}, {'connected_gene': 'ENSG00000253347', 'score': 9.65}, {'connected_gene': 'HOXB1', 'score': 9.41}, {'connected_gene': 'PRR15L', 'score': 8.84}, {'connected_gene': 'SCRN2', 'score': 5.56}, {'connected_gene': 'HOXB4', 'score': 1.29}, {'connected_gene': 'LSM3P1', 'score': 0.29}]
chr17 GH17I048499 48499859 48500008 0.66 [{'connected_gene': 'HOXB-AS1', 'score': 12.22}, {'connected_gene': 'HOXB2', 'score': 12.21}, {'connected_gene': 'HOXB1', 'score': 12.11}, {'connected_gene': 'MIR10A', 'score': 11.64}, {'connected_gene': 'HOXB4', 'score': 11.64}, {'connected_gene': 'HOXB3', 'score': 11.61}, {'connected_gene': 'HOXB-AS2', 'score': 11.4}, {'connected_gene': 'HOXB-AS3', 'score': 10.95}, {'connected_gene': 'SKAP1', 'score': 10.67}, {'connected_gene': 'MIR1203', 'score': 8.77}, {'connected_gene': 'ENSG00000206805', 'score': 0.34}, {'connected_gene': 'LOC105371808', '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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