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
ENST00000518043 [[211342405, 211342490], [211384274, 211384394], [211421442, 211421583], [211438021, 211438131], [211441069, 211441198]] [[211421457, 211421583], [211438021, 211438131], [211441069, 211441198]]
ENST00000417946 [[211342405, 211342490], [211384274, 211384508], [211421442, 211421583], [211438021, 211438131], [211441069, 211441198]] [[211421457, 211421583], [211438021, 211438131], [211441069, 211441198]]
ENST00000523702 [[211342413, 211342490], [211421442, 211421583], [211438021, 211438131], [211441069, 211441214], [211442144, 211442217]] [[211342487, 211342490], [211421442, 211421583], [211438021, 211438131], [211441069, 211441214], [211442144, 211442217]]
ENST00000430249 [[211342432, 211342490], [211421442, 211421583], [211438021, 211438131], [211441069, 211441214], [211442144, 211442234], [211444437, 211444494], [211447340, 211447433], [211452781, 211452871], [211454829, 211454958], [211455523, 211455630], [211456554, 211456693], [211457602, 211457680], [211459231, 211459330], [211460210, 211460306], [211464095, 211464285], [211465278, 211465436], [211466925, 211467054], [211469825, 211469970], [211471454, 211471665], [211473084, 211473283], [211476840, 211477017], [211481146, 211481265], [211502425, 211502567], [211503873, 211503939], [211504719, 211504783], [211507207, 211507389], [211512586, 211512781], [211513196, 211513264], [211515086, 211515162], [211518748, 211518826], [211521248, 211521356], [211523322, 211523412], [211525208, 211525379], [211527846, 211527921], [211532909, 211533008], [211539625, 211539685], [211540451, 211540564], [211541730, 211541860], [211542610, 211543831]] [[211342487, 211342490], [211421442, 211421583], [211438021, 211438131], [211441069, 211441214], [211442144, 211442234], [211444437, 211444494], [211447340, 211447433], [211452781, 211452871], [211454829, 211454958], [211455523, 211455630], [211456554, 211456693], [211457602, 211457680], [211459231, 211459330], [211460210, 211460306], [211464095, 211464285], [211465278, 211465436], [211466925, 211467054], [211469825, 211469970], [211471454, 211471665], [211473084, 211473283], [211476840, 211477017], [211481146, 211481265], [211502425, 211502567], [211503873, 211503939], [211504719, 211504783], [211507207, 211507389], [211512586, 211512781], [211513196, 211513264], [211515086, 211515162], [211518748, 211518826], [211521248, 211521356], [211523322, 211523412], [211525208, 211525379], [211527846, 211527921], [211532909, 211533008], [211539625, 211539685], [211540451, 211540564], [211541730, 211541860], [211542610, 211542709]]
ENST00000233072 [[211421261, 211421583], [211438021, 211438131], [211441069, 211441214], [211442144, 211442234], [211444437, 211444494], [211447340, 211447433], [211452781, 211452871], [211454829, 211454958], [211455523, 211455630], [211456554, 211456693], [211457602, 211457680], [211459231, 211459330], [211460210, 211460306], [211464095, 211464285], [211465278, 211465436], [211466925, 211467054], [211469825, 211469970], [211471454, 211471665], [211473084, 211473283], [211476840, 211477017], [211481146, 211481265], [211502425, 211502567], [211503873, 211503939], [211504719, 211504783], [211507207, 211507389], [211512586, 211512781], [211513196, 211513264], [211515086, 211515162], [211518748, 211518826], [211521248, 211521356], [211523322, 211523412], [211525208, 211525379], [211527846, 211527921], [211532909, 211533008], [211539625, 211539685], [211540451, 211540564], [211541730, 211541860], [211542610, 211543831]] [[211421457, 211421583], [211438021, 211438131], [211441069, 211441214], [211442144, 211442234], [211444437, 211444494], [211447340, 211447433], [211452781, 211452871], [211454829, 211454958], [211455523, 211455630], [211456554, 211456693], [211457602, 211457680], [211459231, 211459330], [211460210, 211460306], [211464095, 211464285], [211465278, 211465436], [211466925, 211467054], [211469825, 211469970], [211471454, 211471665], [211473084, 211473283], [211476840, 211477017], [211481146, 211481265], [211502425, 211502567], [211503873, 211503939], [211504719, 211504783], [211507207, 211507389], [211512586, 211512781], [211513196, 211513264], [211515086, 211515162], [211518748, 211518826], [211521248, 211521356], [211523322, 211523412], [211525208, 211525379], [211527846, 211527921], [211532909, 211533008], [211539625, 211539685], [211540451, 211540564], [211541730, 211541860], [211542610, 211542709]]
ENST00000497163 [[211441878, 211442234], [211444437, 211444524]] None
ENST00000451903 [[211458089, 211458398], [211459231, 211459330], [211460210, 211460306], [211464095, 211464285], [211465278, 211465436], [211466925, 211467054], [211469825, 211469970], [211471454, 211471665], [211473084, 211473283], [211476840, 211477017], [211481146, 211481265], [211502425, 211502567], [211503873, 211503939], [211504719, 211504783], [211507207, 211507389], [211512586, 211512781], [211513196, 211513264], [211515086, 211515162], [211518748, 211518826], [211521248, 211521356], [211523322, 211523412], [211525208, 211525379], [211527846, 211527921], [211532909, 211533008], [211539625, 211539685], [211540451, 211540564], [211541730, 211541860], [211542610, 211543831]] [[211460300, 211460306], [211464095, 211464285], [211465278, 211465436], [211466925, 211467054], [211469825, 211469970], [211471454, 211471665], [211473084, 211473283], [211476840, 211477017], [211481146, 211481265], [211502425, 211502567], [211503873, 211503939], [211504719, 211504783], [211507207, 211507389], [211512586, 211512781], [211513196, 211513264], [211515086, 211515162], [211518748, 211518826], [211521248, 211521356], [211523322, 211523412], [211525208, 211525379], [211527846, 211527921], [211532909, 211533008], [211539625, 211539685], [211540451, 211540564], [211541730, 211541860], [211542610, 211542709]]
ENST00000467353 [[211469688, 211469970], [211471454, 211471495]] None
ENST00000497121 [[211495951, 211496010], [211502425, 211502567], [211503873, 211503939], [211504719, 211504783], [211507207, 211507389], [211512586, 211512658]] None
ENST00000470791 [[211523106, 211523412], [211525208, 211525379], [211527846, 211527870]] None
ENST00000479988 [[211536338, 211539685], [211540451, 211540564], [211541730, 211541860], [211542610, 211543831]] None
NM_001122633 [[211342405, 211342490], [211421442, 211421583], [211438021, 211438131], [211441069, 211441214], [211442144, 211442234], [211444437, 211444494], [211447340, 211447433], [211452781, 211452871], [211454829, 211454958], [211455523, 211455630], [211456554, 211456693], [211457602, 211457680], [211459231, 211459330], [211460210, 211460306], [211464095, 211464285], [211465278, 211465436], [211466925, 211467054], [211469825, 211469970], [211471454, 211471665], [211473084, 211473283], [211476840, 211477017], [211481146, 211481265], [211502425, 211502567], [211503873, 211503939], [211504719, 211504783], [211507207, 211507389], [211512586, 211512781], [211513196, 211513264], [211515086, 211515162], [211518748, 211518826], [211521248, 211521356], [211523322, 211523412], [211525208, 211525379], [211527846, 211527921], [211532909, 211533008], [211539625, 211539685], [211540451, 211540564], [211541730, 211541860], [211542610, 211543831]] [[211342487, 211342490], [211421442, 211421583], [211438021, 211438131], [211441069, 211441214], [211442144, 211442234], [211444437, 211444494], [211447340, 211447433], [211452781, 211452871], [211454829, 211454958], [211455523, 211455630], [211456554, 211456693], [211457602, 211457680], [211459231, 211459330], [211460210, 211460306], [211464095, 211464285], [211465278, 211465436], [211466925, 211467054], [211469825, 211469970], [211471454, 211471665], [211473084, 211473283], [211476840, 211477017], [211481146, 211481265], [211502425, 211502567], [211503873, 211503939], [211504719, 211504783], [211507207, 211507389], [211512586, 211512781], [211513196, 211513264], [211515086, 211515162], [211518748, 211518826], [211521248, 211521356], [211523322, 211523412], [211525208, 211525379], [211527846, 211527921], [211532909, 211533008], [211539625, 211539685], [211540451, 211540564], [211541730, 211541860], [211542610, 211542709]]
NM_001875 [[211421322, 211421583], [211438021, 211438131], [211441069, 211441214], [211442144, 211442234], [211444437, 211444494], [211447340, 211447433], [211452781, 211452871], [211454829, 211454958], [211455523, 211455630], [211456554, 211456693], [211457602, 211457680], [211459231, 211459330], [211460210, 211460306], [211464095, 211464285], [211465278, 211465436], [211466925, 211467054], [211469825, 211469970], [211471454, 211471665], [211473084, 211473283], [211476840, 211477017], [211481146, 211481265], [211502425, 211502567], [211503873, 211503939], [211504719, 211504783], [211507207, 211507389], [211512586, 211512781], [211513196, 211513264], [211515086, 211515162], [211518748, 211518826], [211521248, 211521356], [211523322, 211523412], [211525208, 211525379], [211527846, 211527921], [211532909, 211533008], [211539625, 211539685], [211540451, 211540564], [211541730, 211541860], [211542610, 211543831]] [[211421457, 211421583], [211438021, 211438131], [211441069, 211441214], [211442144, 211442234], [211444437, 211444494], [211447340, 211447433], [211452781, 211452871], [211454829, 211454958], [211455523, 211455630], [211456554, 211456693], [211457602, 211457680], [211459231, 211459330], [211460210, 211460306], [211464095, 211464285], [211465278, 211465436], [211466925, 211467054], [211469825, 211469970], [211471454, 211471665], [211473084, 211473283], [211476840, 211477017], [211481146, 211481265], [211502425, 211502567], [211503873, 211503939], [211504719, 211504783], [211507207, 211507389], [211512586, 211512781], [211513196, 211513264], [211515086, 211515162], [211518748, 211518826], [211521248, 211521356], [211523322, 211523412], [211525208, 211525379], [211527846, 211527921], [211532909, 211533008], [211539625, 211539685], [211540451, 211540564], [211541730, 211541860], [211542610, 211542709]]
NM_001122634 [[211458078, 211458398], [211459231, 211459330], [211460210, 211460306], [211464095, 211464285], [211465278, 211465436], [211466925, 211467054], [211469825, 211469970], [211471454, 211471665], [211473084, 211473283], [211476840, 211477017], [211481146, 211481265], [211502425, 211502567], [211503873, 211503939], [211504719, 211504783], [211507207, 211507389], [211512586, 211512781], [211513196, 211513264], [211515086, 211515162], [211518748, 211518826], [211521248, 211521356], [211523322, 211523412], [211525208, 211525379], [211527846, 211527921], [211532909, 211533008], [211539625, 211539685], [211540451, 211540564], [211541730, 211541860], [211542610, 211543831]] [[211460300, 211460306], [211464095, 211464285], [211465278, 211465436], [211466925, 211467054], [211469825, 211469970], [211471454, 211471665], [211473084, 211473283], [211476840, 211477017], [211481146, 211481265], [211502425, 211502567], [211503873, 211503939], [211504719, 211504783], [211507207, 211507389], [211512586, 211512781], [211513196, 211513264], [211515086, 211515162], [211518748, 211518826], [211521248, 211521356], [211523322, 211523412], [211525208, 211525379], [211527846, 211527921], [211532909, 211533008], [211539625, 211539685], [211540451, 211540564], [211541730, 211541860], [211542610, 211542709]]
Promoter
Chrom Start End Description
chr2 211342345 211342356 CAGE_peak_5_at_CPS1_5end
chr2 211342364 211342384 CAGE_peak_4_at_CPS1_5end
chr2 211342400 211342421 CAGE_peak_2_at_CPS1_5end
chr2 211342432 211342449 CAGE_peak_3_at_CPS1_5end
chr2 211421073 211421089 CAGE_peak_9_at_CPS1_5end
chr2 211421314 211421335 CAGE_peak_1_at_CPS1_5end
chr2 211469821 211469857 CAGE_peak_8_at_CPS1_5end
chr2 211476909 211476924 CAGE_peak_7_at_CPS1_5end
chr2 211523350 211523365 CAGE_peak_10_at_CPS1_5end

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