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
ENST00000368586 [[134621895, 134622408], [134623912, 134623993], [134624453, 134624535], [134626288, 134626401], [134627655, 134627758], [134628080, 134628116], [134628189, 134628250], [134628347, 134628418], [134646861, 134647029], [134647544, 134647627], [134648157, 134648279], [134648807, 134648938], [134649645, 134649722], [134650320, 134650418], [134659560, 134659731], [134660435, 134660615], [134660690, 134660825], [134663747, 134663936], [134664620, 134664809], [134671093, 134671292], [134672574, 134672751], [134673920, 134674027], [134674285, 134674486], [134679528, 134679675], [134680878, 134681011], [134682777, 134682876], [134686179, 134686328], [134690315, 134690465], [134691384, 134691591], [134692929, 134693135], [134694364, 134694536], [134698606, 134698790], [134699324, 134699463], [134705836, 134705921], [134712462, 134712625], [134713038, 134713170], [134721971, 134722138], [134722640, 134722748], [134723422, 134723572], [134726158, 134726324], [134726549, 134726762], [134730052, 134730186], [134731896, 134732024], [134732818, 134732946], [134733562, 134733686], [134735607, 134735728], [134735983, 134736212], [134738199, 134738390], [134740071, 134740170], [134743208, 134743308], [134748255, 134748366], [134750464, 134750559], [134751055, 134751179], [134752092, 134752257], [134754499, 134754564], [134755094, 134755226], [134755483, 134755608], [134755939, 134756089]] [[134621924, 134622408], [134623912, 134623993], [134624453, 134624535], [134626288, 134626401], [134627655, 134627758], [134628080, 134628116], [134628189, 134628250], [134628347, 134628418], [134646861, 134647029], [134647544, 134647627], [134648157, 134648279], [134648807, 134648938], [134649645, 134649722], [134650320, 134650418], [134659560, 134659731], [134660435, 134660615], [134660690, 134660825], [134663747, 134663936], [134664620, 134664809], [134671093, 134671292], [134672574, 134672751], [134673920, 134674027], [134674285, 134674486], [134679528, 134679675], [134680878, 134681011], [134682777, 134682876], [134686179, 134686328], [134690315, 134690465], [134691384, 134691591], [134692929, 134693135], [134694364, 134694536], [134698606, 134698790], [134699324, 134699463], [134705836, 134705921], [134712462, 134712625], [134713038, 134713170], [134721971, 134722138], [134722640, 134722748], [134723422, 134723572], [134726158, 134726324], [134726549, 134726762], [134730052, 134730186], [134731896, 134732024], [134732818, 134732946], [134733562, 134733686], [134735607, 134735728], [134735983, 134736212], [134738199, 134738390], [134740071, 134740170], [134743208, 134743308], [134748255, 134748366], [134750464, 134750559], [134751055, 134751179], [134752092, 134752257], [134754499, 134754564], [134755094, 134755226], [134755483, 134755608], [134755939, 134755988]]
ENST00000368582 [[134686097, 134686328], [134690315, 134690465], [134691384, 134691591], [134692929, 134693135], [134694364, 134694536], [134698606, 134698790], [134699324, 134699463], [134705836, 134705921], [134712462, 134712625], [134713038, 134713170], [134721971, 134722138], [134722640, 134722748], [134723422, 134723572], [134726158, 134726324], [134726549, 134726762], [134730052, 134730186], [134731896, 134732024], [134732818, 134732946], [134733562, 134733686], [134735607, 134735728], [134735983, 134736212], [134738199, 134738390], [134740071, 134740170], [134743208, 134743308], [134748255, 134748366], [134750464, 134750559], [134751055, 134751179], [134752092, 134752257], [134754499, 134754564], [134755094, 134755226], [134755483, 134755608], [134755939, 134756089]] [[134686097, 134686328], [134690315, 134690465], [134691384, 134691591], [134692929, 134693135], [134694364, 134694536], [134698606, 134698790], [134699324, 134699463], [134705836, 134705921], [134712462, 134712625], [134713038, 134713170], [134721971, 134722138], [134722640, 134722748], [134723422, 134723572], [134726158, 134726324], [134726549, 134726762], [134730052, 134730186], [134731896, 134732024], [134732818, 134732946], [134733562, 134733686], [134735607, 134735728], [134735983, 134736212], [134738199, 134738390], [134740071, 134740170], [134743208, 134743308], [134748255, 134748366], [134750464, 134750559], [134751055, 134751179], [134752092, 134752257], [134754499, 134754564], [134755094, 134755226], [134755483, 134755608], [134755939, 134755988]]
ENST00000263170 [[134621896, 134622408], [134623912, 134623993], [134624453, 134624535], [134626288, 134626401], [134627655, 134627758], [134628080, 134628116], [134628189, 134628250], [134628347, 134628418], [134646861, 134647029], [134647544, 134647627], [134648157, 134648279], [134648807, 134648938], [134649645, 134649722], [134650320, 134650418], [134659560, 134659731], [134660435, 134660615], [134660690, 134660825], [134663747, 134663936], [134664620, 134664809], [134671093, 134671236]] [[134621924, 134622408], [134623912, 134623993], [134624453, 134624535], [134626288, 134626401], [134627655, 134627758], [134628080, 134628116], [134628189, 134628250], [134628347, 134628418], [134646861, 134647029], [134647544, 134647627], [134648157, 134648279], [134648807, 134648938], [134649645, 134649722], [134650320, 134650418], [134659560, 134659731], [134660435, 134660615], [134660690, 134660825], [134663747, 134663936], [134664620, 134664809], [134671093, 134671150]]
ENST00000448925 [[134646119, 134646306], [134646861, 134647029], [134647544, 134647627], [134648157, 134648279], [134648807, 134648857]] [[134646268, 134646306], [134646861, 134647029], [134647544, 134647627], [134648157, 134648279], [134648807, 134648857]]
ENST00000476633 [[134648185, 134648279], [134648807, 134648938], [134649645, 134649722], [134650320, 134650581]] None
ENST00000417862 [[134686031, 134686328], [134690315, 134690412]] None
ENST00000486104 [[134712020, 134712625], [134713038, 134713170], [134721971, 134722138], [134722640, 134722748], [134723422, 134723572], [134726158, 134726324], [134726549, 134726762], [134730052, 134730186]] None
ENST00000466834 [[134721851, 134722138], [134722640, 134722748], [134723422, 134723600]] None
ENST00000368585 [[134742688, 134743308], [134748255, 134748366], [134750464, 134750559], [134751055, 134751179], [134752092, 134752257], [134754499, 134754564], [134755094, 134755226], [134755483, 134755608], [134755939, 134756327]] [[134742956, 134743308], [134748255, 134748366], [134750464, 134750559], [134751055, 134751179], [134752092, 134752257], [134754499, 134754564], [134755094, 134755226], [134755483, 134755608], [134755939, 134755988]]
ENST00000475340 [[134750618, 134751179], [134752092, 134752257], [134754499, 134754564], [134755094, 134755226], [134755483, 134755608], [134755939, 134756047]] None
NM_001200049 [[134621895, 134622408], [134623912, 134623993], [134624453, 134624535], [134626288, 134626401], [134627655, 134627758], [134628080, 134628116], [134628189, 134628250], [134628347, 134628418], [134646861, 134647029], [134647544, 134647627], [134648157, 134648279], [134648807, 134648938], [134649645, 134649722], [134650320, 134650418], [134659560, 134659731], [134660435, 134660615], [134660690, 134660825], [134663747, 134663936], [134664620, 134664809], [134671093, 134671292], [134672574, 134672751], [134673920, 134674027], [134674285, 134674486], [134679528, 134679675], [134680878, 134681011], [134682777, 134682876], [134686179, 134686328], [134690315, 134690465], [134691384, 134691591], [134692929, 134693135], [134694364, 134694536], [134698606, 134698790], [134699324, 134699463], [134705836, 134705921], [134712462, 134712625], [134713038, 134713170], [134721971, 134722138], [134722640, 134722748], [134723422, 134723572], [134726158, 134726324], [134726549, 134726762], [134730052, 134730186], [134731896, 134732024], [134732818, 134732946], [134733562, 134733686], [134735607, 134735728], [134735983, 134736212], [134738199, 134738390], [134740071, 134740170], [134743208, 134743308], [134748255, 134748366], [134750464, 134750559], [134751055, 134751179], [134752092, 134752257], [134754499, 134754564], [134755094, 134755226], [134755483, 134755608], [134755939, 134756089]] [[134621924, 134622408], [134623912, 134623993], [134624453, 134624535], [134626288, 134626401], [134627655, 134627758], [134628080, 134628116], [134628189, 134628250], [134628347, 134628418], [134646861, 134647029], [134647544, 134647627], [134648157, 134648279], [134648807, 134648938], [134649645, 134649722], [134650320, 134650418], [134659560, 134659731], [134660435, 134660615], [134660690, 134660825], [134663747, 134663936], [134664620, 134664809], [134671093, 134671292], [134672574, 134672751], [134673920, 134674027], [134674285, 134674486], [134679528, 134679675], [134680878, 134681011], [134682777, 134682876], [134686179, 134686328], [134690315, 134690465], [134691384, 134691591], [134692929, 134693135], [134694364, 134694536], [134698606, 134698790], [134699324, 134699463], [134705836, 134705921], [134712462, 134712625], [134713038, 134713170], [134721971, 134722138], [134722640, 134722748], [134723422, 134723572], [134726158, 134726324], [134726549, 134726762], [134730052, 134730186], [134731896, 134732024], [134732818, 134732946], [134733562, 134733686], [134735607, 134735728], [134735983, 134736212], [134738199, 134738390], [134740071, 134740170], [134743208, 134743308], [134748255, 134748366], [134750464, 134750559], [134751055, 134751179], [134752092, 134752257], [134754499, 134754564], [134755094, 134755226], [134755483, 134755608], [134755939, 134755988]]
Promoter
Chrom Start End Description
chr10 134756030 134756103 CAGE_peak_1_at_TTC40_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I133158 133158328 133159981 0.72 [{'connected_gene': 'KNDC1', 'score': 568.22}, {'connected_gene': 'ENSG00000235245', 'score': 24.1}, {'connected_gene': 'TUBGCP2', 'score': 17.84}, {'connected_gene': 'CFAP46', 'score': 10.57}, {'connected_gene': 'SCART1', 'score': 10.17}, {'connected_gene': 'RPL5P28', 'score': 0.39}]
chr10 GH10I133043 133043937 133045161 0.38 [{'connected_gene': 'ADGRA1', 'score': 12.48}, {'connected_gene': 'CFAP46', 'score': 10.84}, {'connected_gene': 'LOC102723337', 'score': 0.29}]
chr10 GH10I132930 132930192 132932200 0.76 [{'connected_gene': 'ADGRA1', 'score': 11.18}, {'connected_gene': 'CFAP46', 'score': 0.39}, {'connected_gene': 'PIR56661', 'score': 0.28}, {'connected_gene': 'GC10P132846', 'score': 0.18}]
chr10 GH10I133329 133329405 133330400 1.33 [{'connected_gene': 'CFAP46', 'score': 7.63}, {'connected_gene': 'PRAP1', 'score': 6.66}, {'connected_gene': 'CALY', 'score': 0.44}, {'connected_gene': 'GC10M133326', 'score': 0.44}, {'connected_gene': 'ZNF511-PRAP1', 'score': 0.34}]
chr10 GH10I132862 132862445 132863521 0.57 [{'connected_gene': 'CFAP46', 'score': 6.44}, {'connected_gene': 'LOC105378571', 'score': 0.39}, {'connected_gene': 'GC10P132846', 'score': 0.37}, {'connected_gene': 'PIR56661', 'score': 0.31}]
chr10 GH10I132879 132879335 132879726 0.2 [{'connected_gene': 'CFAP46', 'score': 11.38}, {'connected_gene': 'PIR56661', 'score': 0.39}, {'connected_gene': 'GC10P132846', 'score': 0.29}, {'connected_gene': 'LOC105378571', 'score': 0.29}]
chr10 GH10I132902 132902203 132903710 0.2 [{'connected_gene': 'CFAP46', 'score': 5.58}, {'connected_gene': 'PIR56661', 'score': 0.39}, {'connected_gene': 'GC10P132846', 'score': 0.22}]
chr10 GH10I132536 132536052 132541190 2.4 [{'connected_gene': 'INPP5A', 'score': 558.31}, {'connected_gene': 'PAOX', 'score': 4.33}, {'connected_gene': 'JAKMIP3', 'score': 3.96}, {'connected_gene': 'CFAP46', 'score': 3.02}, {'connected_gene': 'NKX6-2', 'score': 1.23}, {'connected_gene': 'PIR45643', 'score': 0.1}]
chr10 GH10I132450 132450653 132454730 1.91 [{'connected_gene': 'INPP5A', 'score': 5.38}, {'connected_gene': 'PWWP2B', 'score': 3.37}, {'connected_gene': 'LRRC27', 'score': 2.17}, {'connected_gene': 'CFAP46', 'score': 1.27}, {'connected_gene': 'LOC105378569', 'score': 0.44}, {'connected_gene': 'C10orf91', 'score': 0.44}]
chr10 GH10I132544 132544001 132545653 1 [{'connected_gene': 'PAOX', 'score': 4.71}, {'connected_gene': 'INPP5A', 'score': 2.61}, {'connected_gene': 'CFAP46', 'score': 2.38}, {'connected_gene': 'PWWP2B', 'score': 1.26}, {'connected_gene': 'PIR45643', 'score': 0.1}]
chr10 GH10I132721 132721531 132723799 0.78 [{'connected_gene': 'TUBGCP2', 'score': 4.59}, {'connected_gene': 'LRRC27', 'score': 2.99}, {'connected_gene': 'CFAP46', 'score': 1.95}, {'connected_gene': 'INPP5A', 'score': 1.35}, {'connected_gene': 'PIR45643', 'score': 0.44}, {'connected_gene': 'NKX6-2', 'score': 0.21}]
chr10 GH10I132574 132574287 132576686 1.56 [{'connected_gene': 'TUBGCP2', 'score': 13.47}, {'connected_gene': 'CFAP46', 'score': 10.85}, {'connected_gene': 'PWWP2B', 'score': 5.84}, {'connected_gene': 'INPP5A', 'score': 4.27}, {'connected_gene': 'JAKMIP3', 'score': 3.02}, {'connected_gene': 'DPYSL4', 'score': 2.07}, {'connected_gene': 'PIR45643', 'score': 0.12}]
chr10 GH10I132942 132942200 132943001 1.71 [{'connected_gene': 'LOC105378572', 'score': 550.77}, {'connected_gene': 'CFAP46', 'score': 550.77}, {'connected_gene': 'LINC01166', 'score': 14.21}, {'connected_gene': 'PIR56661', 'score': 0.23}, {'connected_gene': 'GC10P132846', 'score': 0.15}]
chr10 GH10I132913 132913377 132913526 0.38 [{'connected_gene': 'LINC01166', 'score': 8.55}, {'connected_gene': 'PIR56661', 'score': 0.34}, {'connected_gene': 'CFAP46', 'score': 0.31}, {'connected_gene': 'GC10P132846', 'score': 0.2}]
chr10 GH10I133273 133273461 133280943 2.57 [{'connected_gene': 'ADAM8', 'score': 579.53}, {'connected_gene': 'TUBGCP2', 'score': 10.29}, {'connected_gene': 'ECHS1', 'score': 8.74}, {'connected_gene': 'VENTX', 'score': 5.84}, {'connected_gene': 'ENSG00000235245', 'score': 5.07}, {'connected_gene': 'CFAP46', 'score': 5.05}, {'connected_gene': 'PIR44208', 'score': 0.44}, {'connected_gene': 'GC10P133285', 'score': 0.44}]
chr10 GH10I132836 132836957 132837186 0.6 [{'connected_gene': 'PIR34484', 'score': 0.44}, {'connected_gene': 'NKX6-2', 'score': 0.23}, {'connected_gene': 'CFAP46', 'score': 0.14}]
chr10 GH10I132713 132713890 132715266 0.89 [{'connected_gene': 'PIR45643', 'score': 550.77}, {'connected_gene': 'NKX6-2', 'score': 13.84}, {'connected_gene': 'TUBGCP2', 'score': 4.58}, {'connected_gene': 'KNDC1', 'score': 2.85}, {'connected_gene': 'ADGRA1', 'score': 2.54}, {'connected_gene': 'CFAP46', 'score': 1.25}, {'connected_gene': 'INPP5A', 'score': 0.1}]
chr10 GH10I132938 132938797 132938926 0.6 [{'connected_gene': 'ENSG00000235245', 'score': 9.61}, {'connected_gene': 'CFAP46', 'score': 0.77}, {'connected_gene': 'PIR56661', 'score': 0.25}, {'connected_gene': 'GC10P132846', 'score': 0.16}]
chr10 GH10I132894 132892857 132893077 0.43 [{'connected_gene': 'PIR56661', 'score': 550.77}, {'connected_gene': 'GC10P132846', 'score': 0.25}, {'connected_gene': 'CFAP46', 'score': 0.23}]
chr10 GH10I132893 132893437 132893586 0.43 [{'connected_gene': 'PIR56661', 'score': 0.77}, {'connected_gene': 'GC10P132846', 'score': 0.25}, {'connected_gene': 'CFAP46', 'score': 0.25}]
chr10 GH10I132891 132891657 132891806 0.2 [{'connected_gene': 'PIR56661', 'score': 550.77}, {'connected_gene': 'ENSG00000235245', 'score': 9.82}, {'connected_gene': 'GC10P132846', 'score': 0.26}, {'connected_gene': 'CFAP46', 'score': 0.23}]
chr10 GH10I132895 132893857 132893986 0.46 [{'connected_gene': 'PIR56661', 'score': 0.77}, {'connected_gene': 'GC10P132846', 'score': 0.25}, {'connected_gene': 'CFAP46', 'score': 0.25}]
chr10 GH10I132892 132892037 132892186 0.2 [{'connected_gene': 'PIR56661', 'score': 550.77}, {'connected_gene': 'ENSG00000235245', 'score': 9.82}, {'connected_gene': 'GC10P132846', 'score': 0.25}, {'connected_gene': 'CFAP46', 'score': 0.23}]
chr10 GH10I133387 133387953 133392934 1.48 [{'connected_gene': 'ENSG00000254536', 'score': 550.77}, {'connected_gene': 'TUBGCP2', 'score': 17.91}, {'connected_gene': 'PAOX', 'score': 17.65}, {'connected_gene': 'ENSG00000235245', 'score': 13.25}, {'connected_gene': 'SCART1', 'score': 10.32}, {'connected_gene': 'MTG1', 'score': 8.2}, {'connected_gene': 'ECHS1', 'score': 5.71}, {'connected_gene': 'CFAP46', 'score': 1.29}]
chr10 GH10I132848 132848001 132849663 0.4 [{'connected_gene': 'GC10P132846', 'score': 550.77}, {'connected_gene': 'LOC105378571', 'score': 550.77}, {'connected_gene': 'CFAP46', 'score': 16.83}, {'connected_gene': 'NKX6-2', 'score': 11.65}, {'connected_gene': 'LINC01168', 'score': 5.41}]
chr10 GH10I133145 133145577 133145826 0.43 [{'connected_gene': 'GC10M133145', 'score': 550.77}, {'connected_gene': 'RPL5P28', 'score': 550.77}, {'connected_gene': 'KNDC1', 'score': 18.04}, {'connected_gene': 'CFAP46', 'score': 10.81}, {'connected_gene': 'ENSG00000235245', 'score': 10.5}]

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