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
ENST00000265069 [[32354455, 32356045], [32364053, 32364151], [32364269, 32364381], [32379220, 32379316], [32380180, 32380278], [32385613, 32385755], [32387654, 32387805], [32388574, 32388780], [32390380, 32390543], [32395264, 32395410], [32397324, 32397444], [32400111, 32400308], [32403210, 32403502], [32404010, 32404202], [32406878, 32407126], [32415073, 32415292], [32417752, 32417897], [32419925, 32420208], [32444334, 32444434], [32444727, 32444867]] [[32355865, 32356045], [32364053, 32364151], [32364269, 32364381], [32379220, 32379316], [32380180, 32380278], [32385613, 32385755], [32387654, 32387805], [32388574, 32388780], [32390380, 32390543], [32395264, 32395410], [32397324, 32397444], [32400111, 32400308], [32403210, 32403502], [32404010, 32404202], [32406878, 32407126], [32415073, 32415292], [32417752, 32417897], [32419925, 32420208], [32444334, 32444434], [32444727, 32444764]]
ENST00000514356 [[32354456, 32356045], [32364053, 32364151], [32364269, 32364381], [32379220, 32380530]] None
ENST00000510369 [[32354957, 32356045], [32364053, 32364151], [32364269, 32364381], [32379220, 32379316], [32380180, 32380278], [32383866, 32383925]] None
ENST00000507465 [[32355753, 32356045], [32364053, 32364151], [32364269, 32364381], [32379220, 32379316], [32385613, 32385755], [32387654, 32387805], [32388574, 32388780], [32390380, 32390423]] [[32379311, 32379316], [32385613, 32385755], [32387654, 32387805], [32388574, 32388780], [32390380, 32390423]]
ENST00000502988 [[32354734, 32356045], [32364053, 32364151], [32364269, 32365044]] None
ENST00000505366 [[32406831, 32407126], [32415073, 32415292], [32417752, 32417897], [32419925, 32420208], [32444334, 32444434], [32444727, 32444844]] None
ENST00000505204 [[32419924, 32420208], [32444334, 32444602]] None
NM_016107 [[32354451, 32356045], [32364053, 32364151], [32364269, 32364381], [32379220, 32379316], [32380180, 32380278], [32385613, 32385755], [32387654, 32387805], [32388574, 32388780], [32390380, 32390543], [32395264, 32395410], [32397324, 32397444], [32400111, 32400308], [32403210, 32403502], [32404010, 32404202], [32406878, 32407126], [32415073, 32415292], [32417752, 32417897], [32419925, 32420208], [32444334, 32444434], [32444727, 32444867]] [[32355865, 32356045], [32364053, 32364151], [32364269, 32364381], [32379220, 32379316], [32380180, 32380278], [32385613, 32385755], [32387654, 32387805], [32388574, 32388780], [32390380, 32390543], [32395264, 32395410], [32397324, 32397444], [32400111, 32400308], [32403210, 32403502], [32404010, 32404202], [32406878, 32407126], [32415073, 32415292], [32417752, 32417897], [32419925, 32420208], [32444334, 32444434], [32444727, 32444764]]
NR_144318 [[32354451, 32356045], [32364053, 32364151], [32364269, 32364381], [32379220, 32379316], [32385613, 32385755], [32387654, 32387805], [32388574, 32388780], [32390380, 32390543], [32395264, 32395410], [32397324, 32397444], [32400111, 32400308], [32403210, 32403502], [32404010, 32404202], [32406878, 32407126], [32415073, 32415292], [32417752, 32417897], [32419925, 32420208], [32444334, 32444434], [32444727, 32444867]] None
Promoter
Chrom Start End Description
chr5 32388629 32388636 CAGE_peak_14_at_ZFR_5end
chr5 32388639 32388655 CAGE_peak_8_at_ZFR_5end
chr5 32388671 32388686 CAGE_peak_10_at_ZFR_5end
chr5 32388687 32388699 CAGE_peak_9_at_ZFR_5end
chr5 32388710 32388733 CAGE_peak_5_at_ZFR_5end
chr5 32403313 32403330 CAGE_peak_7_at_ZFR_5end
chr5 32444404 32444425 CAGE_peak_6_at_ZFR_5end
chr5 32444548 32444581 CAGE_peak_4_at_ZFR_5end
chr5 32444598 32444645 CAGE_peak_3_at_ZFR_5end
chr5 32444769 32444826 CAGE_peak_1_at_ZFR_5end
chr5 32444828 32444872 CAGE_peak_2_at_ZFR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I032290 32290595 32291785 0.59 [{'connected_gene': 'MIR579', 'score': 11.29}, {'connected_gene': 'ZFR', 'score': 11.25}, {'connected_gene': 'MTMR12', 'score': 10.72}, {'connected_gene': 'GC05M032181', 'score': 0.37}, {'connected_gene': 'GC05P032310', 'score': 0.37}]
chr5 GH05I032503 32503793 32509710 0.95 [{'connected_gene': 'LOC646616', 'score': 0.37}, {'connected_gene': 'ZFR', 'score': 0.21}]
chr5 GH05I032500 32500375 32500444 0.31 [{'connected_gene': 'LOC646616', 'score': 0.34}, {'connected_gene': 'ZFR', 'score': 0.22}]
chr5 GH05I032504 32503355 32503504 0.31 [{'connected_gene': 'LOC646616', 'score': 0.37}, {'connected_gene': 'ZFR', 'score': 0.22}]
chr5 GH05I032489 32489355 32491089 1.13 [{'connected_gene': 'LOC646616', 'score': 12.58}, {'connected_gene': 'SUB1', 'score': 12.55}, {'connected_gene': 'ZFR', 'score': 11.29}, {'connected_gene': 'MIR579', 'score': 11.2}]
chr5 GH05I032473 32473789 32475148 0.63 [{'connected_gene': 'LOC646616', 'score': 12.34}, {'connected_gene': 'SUB1', 'score': 12.32}, {'connected_gene': 'ZFR', 'score': 11.69}]
chr5 GH05I032209 32209990 32211700 1.05 [{'connected_gene': 'GOLPH3', 'score': 13.33}, {'connected_gene': 'MIR579', 'score': 11.0}, {'connected_gene': 'ZFR', 'score': 10.98}, {'connected_gene': 'MTMR12', 'score': 6.18}, {'connected_gene': 'RPL27P10', 'score': 5.07}, {'connected_gene': 'GC05P032207', 'score': 0.77}, {'connected_gene': 'PIR52245', 'score': 0.44}, {'connected_gene': 'GC05M032181', 'score': 0.21}]
chr5 GH05I032253 32253634 32254009 0.2 [{'connected_gene': 'GOLPH3', 'score': 10.95}, {'connected_gene': 'MIR579', 'score': 10.65}, {'connected_gene': 'ZFR', 'score': 10.63}, {'connected_gene': 'MTMR12', 'score': 9.23}, {'connected_gene': 'GC05P032258', 'score': 0.77}, {'connected_gene': 'PIR44669', 'score': 0.39}, {'connected_gene': 'GC05M032181', 'score': 0.37}]
chr5 GH05I032251 32251165 32251994 0.38 [{'connected_gene': 'GOLPH3', 'score': 10.95}, {'connected_gene': 'MIR579', 'score': 10.65}, {'connected_gene': 'ZFR', 'score': 10.63}, {'connected_gene': 'MTMR12', 'score': 9.26}, {'connected_gene': 'GC05P032258', 'score': 0.44}, {'connected_gene': 'PIR44669', 'score': 0.39}, {'connected_gene': 'GC05M032181', 'score': 0.34}]
chr5 GH05I032297 32297714 32298602 1.19 [{'connected_gene': 'GOLPH3', 'score': 10.94}, {'connected_gene': 'MIR579', 'score': 10.85}, {'connected_gene': 'ZFR', 'score': 10.81}, {'connected_gene': 'MTMR12', 'score': 7.7}, {'connected_gene': 'GC05P032310', 'score': 0.39}, {'connected_gene': 'GC05M032181', 'score': 0.31}]
chr5 GH05I032240 32240322 32243103 0.42 [{'connected_gene': 'GOLPH3', 'score': 11.36}, {'connected_gene': 'MIR579', 'score': 10.96}, {'connected_gene': 'ZFR', 'score': 10.93}, {'connected_gene': 'MTMR12', 'score': 7.33}, {'connected_gene': 'PIR44669', 'score': 0.77}, {'connected_gene': 'GC05P032258', 'score': 0.37}, {'connected_gene': 'GC05M032181', 'score': 0.29}]
chr5 GH05I032254 32254938 32256047 0.4 [{'connected_gene': 'GOLPH3', 'score': 10.94}, {'connected_gene': 'MIR579', 'score': 10.66}, {'connected_gene': 'ZFR', 'score': 10.63}, {'connected_gene': 'GC05P032258', 'score': 0.77}, {'connected_gene': 'GC05M032181', 'score': 0.37}, {'connected_gene': 'PIR44669', 'score': 0.37}, {'connected_gene': 'MTMR12', 'score': 0.22}]
chr5 GH05I032304 32304555 32305079 0.43 [{'connected_gene': 'GOLPH3', 'score': 11.01}, {'connected_gene': 'MIR579', 'score': 10.65}, {'connected_gene': 'ZFR', 'score': 10.6}, {'connected_gene': 'GC05P032310', 'score': 0.77}, {'connected_gene': 'MTMR12', 'score': 0.44}, {'connected_gene': 'GC05M032181', 'score': 0.29}]
chr5 GH05I032249 32249176 32250702 0.89 [{'connected_gene': 'GOLPH3', 'score': 10.95}, {'connected_gene': 'MIR579', 'score': 10.84}, {'connected_gene': 'ZFR', 'score': 10.82}, {'connected_gene': 'GC05P032258', 'score': 0.44}, {'connected_gene': 'PIR44669', 'score': 0.39}, {'connected_gene': 'GC05M032181', 'score': 0.34}, {'connected_gene': 'MTMR12', 'score': 0.21}]
chr5 GH05I032302 32302432 32303802 0.83 [{'connected_gene': 'GOLPH3', 'score': 10.94}, {'connected_gene': 'MIR579', 'score': 10.65}, {'connected_gene': 'ZFR', 'score': 10.6}, {'connected_gene': 'DROSHA', 'score': 9.77}, {'connected_gene': 'MTMR12', 'score': 6.07}, {'connected_gene': 'GC05P032310', 'score': 0.44}, {'connected_gene': 'GC05M032181', 'score': 0.29}]
chr5 GH05I032324 32324640 32325600 0.46 [{'connected_gene': 'MTMR12', 'score': 22.35}, {'connected_gene': 'MIR579', 'score': 10.93}, {'connected_gene': 'GOLPH3', 'score': 10.91}, {'connected_gene': 'ZFR', 'score': 10.85}, {'connected_gene': 'LOC646616', 'score': 10.0}, {'connected_gene': 'SUB1', 'score': 10.0}, {'connected_gene': 'GC05P032360', 'score': 0.28}]
chr5 GH05I032329 32329311 32332495 1.32 [{'connected_gene': 'MTMR12', 'score': 26.7}, {'connected_gene': 'MIR579', 'score': 11.21}, {'connected_gene': 'ZFR', 'score': 11.14}, {'connected_gene': 'GOLPH3', 'score': 10.91}, {'connected_gene': 'LOC646616', 'score': 10.0}, {'connected_gene': 'SUB1', 'score': 10.0}, {'connected_gene': 'GC05P032360', 'score': 0.31}]
chr5 GH05I032390 32390059 32392414 1.41 [{'connected_gene': 'MTMR12', 'score': 15.73}, {'connected_gene': 'SUB1', 'score': 1.78}, {'connected_gene': 'GC05M032394', 'score': 0.77}, {'connected_gene': 'GC05P032360', 'score': 0.29}, {'connected_gene': 'ZFR', 'score': 0.23}]
chr5 GH05I032433 32433801 32434000 0.2 [{'connected_gene': 'ZFR', 'score': 0.39}, {'connected_gene': 'MIR579', 'score': 0.28}]
chr5 GH05I032435 32435001 32435200 0.2 [{'connected_gene': 'ZFR', 'score': 0.44}, {'connected_gene': 'MIR579', 'score': 0.26}]
chr5 GH05I032436 32436955 32437084 0.49 [{'connected_gene': 'ZFR', 'score': 0.44}, {'connected_gene': 'MIR579', 'score': 0.26}]
chr5 GH05I032164 32164036 32164242 0.6 [{'connected_gene': 'ZFR', 'score': 1.21}, {'connected_gene': 'GC05P032175', 'score': 0.44}, {'connected_gene': 'GOLPH3', 'score': 0.39}, {'connected_gene': 'GC05P032142', 'score': 0.34}]
chr5 GH05I032419 32419511 32420683 0.43 [{'connected_gene': 'ZFR', 'score': 17.95}, {'connected_gene': 'MTMR12', 'score': 16.14}, {'connected_gene': 'MIR579', 'score': 12.03}]
chr5 GH05I032442 32442430 32447440 2.28 [{'connected_gene': 'ZFR', 'score': 550.77}, {'connected_gene': 'DROSHA', 'score': 40.55}, {'connected_gene': 'MTMR12', 'score': 34.39}, {'connected_gene': 'ENSG00000249572', 'score': 13.48}, {'connected_gene': 'MIR579', 'score': 10.46}, {'connected_gene': 'LOC646616', 'score': 0.18}]
chr5 GH05I032540 32540079 32541280 0.65 [{'connected_gene': 'ZFR', 'score': 10.81}, {'connected_gene': 'SUB1', 'score': 0.44}, {'connected_gene': 'GC05M032623', 'score': 0.18}]
chr5 GH05I032590 32590275 32590424 0.91 [{'connected_gene': 'ZFR', 'score': 11.44}, {'connected_gene': 'GC05M032623', 'score': 0.29}, {'connected_gene': 'SUB1', 'score': 0.22}]
chr5 GH05I033195 33195094 33196408 0.57 [{'connected_gene': 'ZFR', 'score': 10.89}, {'connected_gene': 'ENSG00000250697', 'score': 9.33}, {'connected_gene': 'LINC02160', 'score': 0.29}, {'connected_gene': 'RPS8P8', 'score': 0.29}]
chr5 GH05I031853 31853493 31856006 1.35 [{'connected_gene': 'ZFR', 'score': 10.77}, {'connected_gene': 'RPL5P14', 'score': 0.44}, {'connected_gene': 'TPT1P5', 'score': 0.23}, {'connected_gene': 'PDZD2', 'score': 0.08}]
chr5 GH05I031774 31774516 31776317 0.67 [{'connected_gene': 'DROSHA', 'score': 38.99}, {'connected_gene': 'MTMR12', 'score': 20.51}, {'connected_gene': 'PDZD2', 'score': 11.25}, {'connected_gene': 'ZFR', 'score': 10.89}, {'connected_gene': 'ENSG00000250764', 'score': 10.7}, {'connected_gene': 'ENSG00000249688', 'score': 0.34}, {'connected_gene': 'RNU6-358P', 'score': 0.25}, {'connected_gene': 'GC05M031821', 'score': 0.25}]
chr5 GH05I032582 32582347 32587599 2.72 [{'connected_gene': 'SUB1', 'score': 565.93}, {'connected_gene': 'LOC646616', 'score': 12.64}, {'connected_gene': 'ZFR', 'score': 10.37}, {'connected_gene': 'GC05M032623', 'score': 0.28}]
chr5 GH05I032581 32581401 32581600 0.4 [{'connected_gene': 'SUB1', 'score': 11.89}, {'connected_gene': 'LOC646616', 'score': 11.86}, {'connected_gene': 'ZFR', 'score': 10.32}, {'connected_gene': 'GC05M032623', 'score': 0.26}]
chr5 GH05I032230 32230246 32235581 1.37 [{'connected_gene': 'RNU6-1079P', 'score': 550.77}, {'connected_gene': 'GC05M032236', 'score': 550.77}, {'connected_gene': 'GOLPH3', 'score': 12.46}, {'connected_gene': 'MIR579', 'score': 11.2}, {'connected_gene': 'ZFR', 'score': 11.18}, {'connected_gene': 'MTMR12', 'score': 9.71}, {'connected_gene': 'PIR37174', 'score': 0.77}, {'connected_gene': 'GC05P032221', 'score': 0.39}, {'connected_gene': 'GC05M032181', 'score': 0.28}]
chr5 GH05I032358 32358956 32360252 0.31 [{'connected_gene': 'GC05P032360', 'score': 550.77}, {'connected_gene': 'MIR579', 'score': 12.25}, {'connected_gene': 'ZFR', 'score': 12.13}, {'connected_gene': 'MTMR12', 'score': 7.98}]
chr5 GH05I032207 32207001 32207601 0.46 [{'connected_gene': 'GC05P032208', 'score': 550.77}, {'connected_gene': 'GC05P032207', 'score': 550.77}, {'connected_gene': 'GOLPH3', 'score': 13.34}, {'connected_gene': 'MIR579', 'score': 11.0}, {'connected_gene': 'ZFR', 'score': 10.98}, {'connected_gene': 'MTMR12', 'score': 6.75}, {'connected_gene': 'ENSG00000272086', 'score': 0.29}, {'connected_gene': 'GC05M032181', 'score': 0.21}]
chr5 GH05I032388 32388575 32388724 0.54 [{'connected_gene': 'GC05M032394', 'score': 0.44}, {'connected_gene': 'GC05P032360', 'score': 0.31}, {'connected_gene': 'ZFR', 'score': 0.22}]
chr5 GH05I032217 32217801 32218400 0.93 [{'connected_gene': 'PIR52245', 'score': 550.77}, {'connected_gene': 'DROSHA', 'score': 80.37}, {'connected_gene': 'GOLPH3', 'score': 12.51}, {'connected_gene': 'ZFR', 'score': 10.94}, {'connected_gene': 'MTMR12', 'score': 10.21}, {'connected_gene': 'RPL27P10', 'score': 0.77}, {'connected_gene': 'GC05M032181', 'score': 0.23}]
chr5 GH05I032307 32307160 32310600 1.14 [{'connected_gene': 'GC05P032310', 'score': 550.77}, {'connected_gene': 'RNU6-378P', 'score': 550.77}, {'connected_gene': 'GOLPH3', 'score': 11.01}, {'connected_gene': 'MIR579', 'score': 10.25}, {'connected_gene': 'ZFR', 'score': 10.2}, {'connected_gene': 'MTMR12', 'score': 8.19}, {'connected_gene': 'GC05M032181', 'score': 0.28}]

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