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
ENST00000495646 [[23755055, 23756423], [23757527, 23757618], [23758188, 23758411], [23759569, 23759765], [23759917, 23760025], [23760118, 23760186], [23760746, 23760862], [23761025, 23761111], [23762343, 23762521], [23763052, 23763170]] [[23756348, 23756423], [23757527, 23757618], [23758188, 23758411], [23759569, 23759765], [23759917, 23760025], [23760118, 23760186], [23760746, 23760862], [23761025, 23761111], [23762343, 23762521], [23763052, 23763135]]
ENST00000336689 [[23755055, 23756423], [23757527, 23757618], [23758188, 23758411], [23759569, 23759765], [23759917, 23760025], [23760118, 23760186], [23760746, 23760862], [23761025, 23761111], [23762343, 23762521], [23763052, 23763147], [23763403, 23763537], [23763622, 23763813], [23763916, 23763965], [23765239, 23765327], [23765653, 23765723], [23767594, 23767704], [23767879, 23767966], [23768147, 23768223], [23768678, 23768764], [23768993, 23769105], [23777971, 23778021], [23779189, 23779264], [23782373, 23782519], [23782614, 23782687], [23810497, 23810671]] [[23756348, 23756423], [23757527, 23757618], [23758188, 23758411], [23759569, 23759765], [23759917, 23760025], [23760118, 23760186], [23760746, 23760862], [23761025, 23761111], [23762343, 23762521], [23763052, 23763147], [23763403, 23763537], [23763622, 23763813], [23763916, 23763965], [23765239, 23765327], [23765653, 23765723], [23767594, 23767704], [23767879, 23767966], [23768147, 23768223], [23768678, 23768764], [23768993, 23769105], [23777971, 23778021], [23779189, 23779264], [23782373, 23782519], [23782614, 23782687], [23810497, 23810626]]
ENST00000465372 [[23756024, 23756423], [23757527, 23757618], [23758188, 23758411], [23759650, 23759765], [23759917, 23760025]] [[23756348, 23756423], [23757527, 23757618], [23758188, 23758411], [23759650, 23759765], [23759917, 23760025]]
ENST00000492982 [[23756119, 23756423], [23757527, 23757618], [23758188, 23758411], [23759569, 23759765], [23759854, 23760025], [23760118, 23760186], [23760746, 23760862], [23761025, 23761111], [23762343, 23762521], [23763052, 23763147], [23763403, 23763537], [23763622, 23763813], [23763916, 23763965], [23765239, 23765327], [23765653, 23765723], [23767594, 23767704], [23767879, 23767966], [23768147, 23768223], [23768678, 23768764], [23768993, 23769105], [23777971, 23778021], [23779189, 23779264], [23782373, 23782519], [23782614, 23782687], [23810528, 23810677]] [[23782650, 23782687], [23810528, 23810626]]
ENST00000437606 [[23756214, 23756423], [23757527, 23757618], [23758188, 23758411], [23759569, 23759765], [23759917, 23760025], [23760118, 23760186], [23760746, 23760862], [23761025, 23761111], [23762343, 23762521], [23763052, 23763147], [23763403, 23763537], [23763622, 23763813], [23763916, 23763965], [23765239, 23765327], [23765653, 23765723], [23767594, 23767704], [23767879, 23767966], [23768147, 23768223], [23768678, 23768764], [23768993, 23769128], [23779189, 23779264], [23782373, 23782519], [23782614, 23782687], [23810497, 23810672]] [[23756348, 23756423], [23757527, 23757618], [23758188, 23758411], [23759569, 23759765], [23759917, 23760025], [23760118, 23760186], [23760746, 23760862], [23761025, 23761111], [23762343, 23762521], [23763052, 23763147], [23763403, 23763537], [23763622, 23763813], [23763916, 23763965], [23765239, 23765327], [23765653, 23765723], [23767594, 23767704], [23767879, 23767966], [23768147, 23768223], [23768678, 23768764], [23768993, 23769128], [23779189, 23779264], [23782373, 23782519], [23782614, 23782687], [23810497, 23810626]]
ENST00000484418 [[23759695, 23759765], [23759917, 23760025], [23760118, 23760186], [23760746, 23760862], [23761025, 23761111], [23762215, 23762521], [23763052, 23763147], [23763403, 23763461]] [[23762301, 23762521], [23763052, 23763147], [23763403, 23763461]]
ENST00000475814 [[23763419, 23763537], [23763622, 23763813], [23763916, 23763965], [23765239, 23765327], [23767594, 23767704], [23767879, 23767966], [23768147, 23768223], [23768678, 23768764]] [[23765323, 23765327], [23767594, 23767704], [23767879, 23767966], [23768147, 23768223], [23768678, 23768764]]
ENST00000530874 [[23763456, 23763537], [23763622, 23763813], [23763916, 23763965], [23765239, 23765509]] None
ENST00000478858 [[23767842, 23767966], [23768147, 23768212], [23768678, 23768764], [23768993, 23769105], [23777971, 23778021], [23779189, 23779264], [23782373, 23782519], [23782614, 23782687], [23810528, 23810685]] None
ENST00000608765 [[23777971, 23778021], [23779189, 23779264], [23782373, 23782519], [23782614, 23782687], [23810497, 23810645], [23810964, 23811061]] [[23777971, 23778021], [23779189, 23779264], [23782373, 23782519], [23782614, 23782687], [23810497, 23810626]]
ENST00000449467 [[23782483, 23782519], [23782614, 23782687], [23806301, 23806672]] None
NM_017707 [[23755055, 23756423], [23757527, 23757618], [23758188, 23758411], [23759569, 23759765], [23759917, 23760025], [23760118, 23760186], [23760746, 23760862], [23761025, 23761111], [23762343, 23762521], [23763052, 23763147], [23763403, 23763537], [23763622, 23763813], [23763916, 23763965], [23765239, 23765327], [23765653, 23765723], [23767594, 23767704], [23767879, 23767966], [23768147, 23768223], [23768678, 23768764], [23768993, 23769105], [23777971, 23778021], [23779189, 23779264], [23782373, 23782519], [23782614, 23782687], [23810497, 23810750]] [[23756348, 23756423], [23757527, 23757618], [23758188, 23758411], [23759569, 23759765], [23759917, 23760025], [23760118, 23760186], [23760746, 23760862], [23761025, 23761111], [23762343, 23762521], [23763052, 23763147], [23763403, 23763537], [23763622, 23763813], [23763916, 23763965], [23765239, 23765327], [23765653, 23765723], [23767594, 23767704], [23767879, 23767966], [23768147, 23768223], [23768678, 23768764], [23768993, 23769105], [23777971, 23778021], [23779189, 23779264], [23782373, 23782519], [23782614, 23782687], [23810497, 23810626]]
NM_001143778 [[23755055, 23756423], [23757527, 23757618], [23758188, 23758411], [23759569, 23759765], [23759917, 23760025], [23760118, 23760186], [23760746, 23760862], [23761025, 23761111], [23762343, 23762521], [23763052, 23763147], [23763403, 23763537], [23763622, 23763813], [23763916, 23763965], [23765239, 23765327], [23765653, 23765723], [23767594, 23767704], [23767879, 23767966], [23768147, 23768223], [23768678, 23768764], [23768993, 23769128], [23779189, 23779264], [23782373, 23782519], [23782614, 23782687], [23810497, 23810750]] [[23756348, 23756423], [23757527, 23757618], [23758188, 23758411], [23759569, 23759765], [23759917, 23760025], [23760118, 23760186], [23760746, 23760862], [23761025, 23761111], [23762343, 23762521], [23763052, 23763147], [23763403, 23763537], [23763622, 23763813], [23763916, 23763965], [23765239, 23765327], [23765653, 23765723], [23767594, 23767704], [23767879, 23767966], [23768147, 23768223], [23768678, 23768764], [23768993, 23769128], [23779189, 23779264], [23782373, 23782519], [23782614, 23782687], [23810497, 23810626]]
Promoter
Chrom Start End Description
chr1 23810641 23810652 CAGE_peak_2_at_ASAP3_5end
chr1 23810664 23810735 CAGE_peak_1_at_ASAP3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I023420 23420649 23425746 2.14 [{'connected_gene': 'TCEA3', 'score': 568.11}, {'connected_gene': 'ASAP3', 'score': 43.18}, {'connected_gene': 'ZNF436-AS1', 'score': 31.48}, {'connected_gene': 'ZNF436', 'score': 10.81}, {'connected_gene': 'ENSG00000201405', 'score': 10.81}, {'connected_gene': 'LINC01355', 'score': 9.85}, {'connected_gene': 'ENSG00000232482', 'score': 0.39}]
chr1 GH01I023435 23435686 23437665 0.96 [{'connected_gene': 'TCEA3', 'score': 17.09}, {'connected_gene': 'GC01M023439', 'score': 0.77}, {'connected_gene': 'ASAP3', 'score': 0.25}]
chr1 GH01I023497 23497168 23497801 1.26 [{'connected_gene': 'TCEA3', 'score': 17.39}, {'connected_gene': 'E2F2', 'score': 12.18}, {'connected_gene': 'ID3', 'score': 11.07}, {'connected_gene': 'MDS2', 'score': 10.57}, {'connected_gene': 'PIR36355', 'score': 0.39}, {'connected_gene': 'ASAP3', 'score': 0.39}]
chr1 GH01I023393 23393384 23396335 1.37 [{'connected_gene': 'TCEA3', 'score': 13.89}, {'connected_gene': 'ZNF436-AS1', 'score': 9.29}, {'connected_gene': 'ZNF436', 'score': 6.41}, {'connected_gene': 'ASAP3', 'score': 6.04}, {'connected_gene': 'GC01M023400', 'score': 0.44}, {'connected_gene': 'ENSG00000271420', 'score': 0.37}]
chr1 GH01I023691 23691050 23694195 2.07 [{'connected_gene': 'RPL11', 'score': 585.8}, {'connected_gene': 'SRSF10', 'score': 87.56}, {'connected_gene': 'SRRM1', 'score': 64.54}, {'connected_gene': 'LINC01355', 'score': 61.68}, {'connected_gene': 'PNRC2', 'score': 41.58}, {'connected_gene': 'HNRNPR', 'score': 37.5}, {'connected_gene': 'KDM1A', 'score': 30.3}, {'connected_gene': 'ELOA', 'score': 30.01}, {'connected_gene': 'ASAP3', 'score': 11.49}, {'connected_gene': 'GC01M023708', 'score': 0.39}]
chr1 GH01I024140 24140812 24144834 1.94 [{'connected_gene': 'IL22RA1', 'score': 568.18}, {'connected_gene': 'GC01P024142', 'score': 550.77}, {'connected_gene': 'ASAP3', 'score': 4.71}]
chr1 GH01I023482 23482880 23485770 1.98 [{'connected_gene': 'ASAP3', 'score': 585.44}, {'connected_gene': 'ZNF436', 'score': 9.45}, {'connected_gene': 'TCEA3', 'score': 5.89}, {'connected_gene': 'GC01M023474', 'score': 0.44}]
chr1 GH01I023443 23443999 23445868 0.88 [{'connected_gene': 'ASAP3', 'score': 20.41}, {'connected_gene': 'TCEA3', 'score': 10.25}, {'connected_gene': 'GC01P023453', 'score': 0.44}, {'connected_gene': 'GC01M023439', 'score': 0.44}]
chr1 GH01I023448 23448762 23450936 0.77 [{'connected_gene': 'ASAP3', 'score': 30.3}, {'connected_gene': 'TCEA3', 'score': 9.97}, {'connected_gene': 'GC01P023453', 'score': 0.77}, {'connected_gene': 'GC01M023439', 'score': 0.39}]
chr1 GH01I023418 23418032 23418328 0.56 [{'connected_gene': 'ASAP3', 'score': 7.68}, {'connected_gene': 'TCEA3', 'score': 0.44}, {'connected_gene': 'ENSG00000232482', 'score': 0.44}]
chr1 GH01I023406 23406943 23407789 0.54 [{'connected_gene': 'ASAP3', 'score': 7.48}, {'connected_gene': 'GC01M023399', 'score': 0.77}, {'connected_gene': 'ENSG00000232482', 'score': 0.77}, {'connected_gene': 'TCEA3', 'score': 0.37}]
chr1 GH01I023417 23417248 23418011 0.99 [{'connected_gene': 'ASAP3', 'score': 17.97}, {'connected_gene': 'ZNF436-AS1', 'score': 12.66}, {'connected_gene': 'HNRNPR', 'score': 9.97}, {'connected_gene': 'TCEA3', 'score': 0.44}, {'connected_gene': 'ENSG00000232482', 'score': 0.44}]
chr1 GH01I023472 23471730 23471862 0.63 [{'connected_gene': 'ASAP3', 'score': 17.8}, {'connected_gene': 'ZNF436-AS1', 'score': 12.56}, {'connected_gene': 'HNRNPR', 'score': 9.9}, {'connected_gene': 'GC01P023474', 'score': 0.77}, {'connected_gene': 'GC01P023453', 'score': 0.37}]
chr1 GH01I023470 23469886 23471607 0.99 [{'connected_gene': 'ASAP3', 'score': 8.65}, {'connected_gene': 'GC01P023474', 'score': 0.77}, {'connected_gene': 'GC01P023453', 'score': 0.37}]
chr1 GH01I023456 23456794 23458257 0.84 [{'connected_gene': 'ASAP3', 'score': 8.57}, {'connected_gene': 'GC01P023453', 'score': 0.77}, {'connected_gene': 'GC01P023474', 'score': 0.37}]
chr1 GH01I023478 23478722 23479915 1.41 [{'connected_gene': 'ASAP3', 'score': 34.77}, {'connected_gene': 'GC01P023475', 'score': 0.77}, {'connected_gene': 'GC01M023474', 'score': 0.77}, {'connected_gene': 'GC01P023474', 'score': 0.44}]
chr1 GH01I023469 23469459 23469652 0.43 [{'connected_gene': 'ASAP3', 'score': 33.52}, {'connected_gene': 'GC01P023474', 'score': 0.77}, {'connected_gene': 'GC01P023453', 'score': 0.37}]
chr1 GH01I023638 23638974 23640565 0.56 [{'connected_gene': 'ID3', 'score': 11.75}, {'connected_gene': 'MDS2', 'score': 11.47}, {'connected_gene': 'E2F2', 'score': 11.45}, {'connected_gene': 'ASAP3', 'score': 11.28}, {'connected_gene': 'GC01P023610', 'score': 0.31}, {'connected_gene': 'LOC729856', 'score': 0.29}]
chr1 GH01I023632 23632367 23633870 0.38 [{'connected_gene': 'ID3', 'score': 12.14}, {'connected_gene': 'MDS2', 'score': 11.87}, {'connected_gene': 'E2F2', 'score': 11.42}, {'connected_gene': 'ASAP3', 'score': 11.2}, {'connected_gene': 'GC01P023610', 'score': 0.34}, {'connected_gene': 'LOC729856', 'score': 0.28}]
chr1 GH01I023553 23553135 23565306 2.67 [{'connected_gene': 'ID3', 'score': 560.77}, {'connected_gene': 'GC01M023559', 'score': 550.77}, {'connected_gene': 'GC01M023560', 'score': 550.77}, {'connected_gene': 'PIR53087', 'score': 550.77}, {'connected_gene': 'LOC105376859', 'score': 550.77}, {'connected_gene': 'SRSF10', 'score': 37.59}, {'connected_gene': 'LINC01355', 'score': 26.48}, {'connected_gene': 'RPL11', 'score': 13.73}, {'connected_gene': 'MDS2', 'score': 12.2}, {'connected_gene': 'E2F2', 'score': 11.99}, {'connected_gene': 'PNRC2', 'score': 11.72}, {'connected_gene': 'ELOA', 'score': 11.4}, {'connected_gene': 'ASAP3', 'score': 10.91}, {'connected_gene': 'ZNF436-AS1', 'score': 9.15}, {'connected_gene': 'ZNF436', 'score': 7.6}, {'connected_gene': 'TCEA3', 'score': 5.49}]
chr1 GH01I023628 23628829 23630127 0.79 [{'connected_gene': 'MDS2', 'score': 17.04}, {'connected_gene': 'ID3', 'score': 12.15}, {'connected_gene': 'E2F2', 'score': 11.42}, {'connected_gene': 'ASAP3', 'score': 11.2}, {'connected_gene': 'FUCA1', 'score': 5.31}, {'connected_gene': 'GC01P023610', 'score': 0.37}, {'connected_gene': 'LOC729856', 'score': 0.26}]
chr1 GH01I023521 23521963 23535404 2.73 [{'connected_gene': 'E2F2', 'score': 550.77}, {'connected_gene': 'GC01P023526', 'score': 550.77}, {'connected_gene': 'SRSF10', 'score': 32.7}, {'connected_gene': 'LINC01355', 'score': 25.51}, {'connected_gene': 'ASAP3', 'score': 11.46}, {'connected_gene': 'ID3', 'score': 10.58}, {'connected_gene': 'ZNF436', 'score': 10.56}, {'connected_gene': 'KDM1A', 'score': 10.43}, {'connected_gene': 'ELOA', 'score': 10.34}, {'connected_gene': 'TCEA3', 'score': 9.31}, {'connected_gene': 'PNRC2', 'score': 7.06}, {'connected_gene': 'ENSG00000271420', 'score': 5.98}, {'connected_gene': 'RPL11', 'score': 1.68}, {'connected_gene': 'LOC101928163', 'score': 0.44}]
chr1 GH01I023625 23625233 23626069 0.87 [{'connected_gene': 'ZNF436-AS1', 'score': 52.06}, {'connected_gene': 'HNRNPR', 'score': 41.56}, {'connected_gene': 'SRSF10', 'score': 34.94}, {'connected_gene': 'LINC01355', 'score': 33.99}, {'connected_gene': 'KDM1A', 'score': 31.86}, {'connected_gene': 'RPL11', 'score': 20.51}, {'connected_gene': 'PNRC2', 'score': 11.8}, {'connected_gene': 'MDS2', 'score': 11.56}, {'connected_gene': 'ID3', 'score': 11.44}, {'connected_gene': 'E2F2', 'score': 11.39}, {'connected_gene': 'FUCA1', 'score': 11.25}, {'connected_gene': 'ASAP3', 'score': 10.43}, {'connected_gene': 'ELOA', 'score': 9.96}, {'connected_gene': 'GC01P023610', 'score': 0.37}, {'connected_gene': 'LOC729856', 'score': 0.26}]
chr1 GH01I023626 23626382 23628085 1.22 [{'connected_gene': 'SRSF10', 'score': 48.12}, {'connected_gene': 'RPL11', 'score': 37.61}, {'connected_gene': 'PNRC2', 'score': 33.32}, {'connected_gene': 'ELOA', 'score': 29.87}, {'connected_gene': 'LINC01355', 'score': 22.07}, {'connected_gene': 'FUCA1', 'score': 14.52}, {'connected_gene': 'HNRNPR', 'score': 13.43}, {'connected_gene': 'ID3', 'score': 12.15}, {'connected_gene': 'MDS2', 'score': 11.89}, {'connected_gene': 'E2F2', 'score': 11.42}, {'connected_gene': 'ASAP3', 'score': 11.2}, {'connected_gene': 'KDM1A', 'score': 9.89}, {'connected_gene': 'GC01P023610', 'score': 0.37}, {'connected_gene': 'LOC729856', 'score': 0.26}]
chr1 GH01I023410 23410841 23412428 0.66 [{'connected_gene': 'ENSG00000232482', 'score': 550.77}, {'connected_gene': 'ASAP3', 'score': 10.92}, {'connected_gene': 'ZNF436', 'score': 9.92}, {'connected_gene': 'TCEA3', 'score': 0.39}]
chr1 GH01I024203 24203235 24203520 0.92 [{'connected_gene': 'GC01P024203', 'score': 550.77}, {'connected_gene': 'GC01P024204', 'score': 550.77}, {'connected_gene': 'ASAP3', 'score': 10.35}, {'connected_gene': 'LOC284632', 'score': 0.77}, {'connected_gene': 'PIR61851', 'score': 0.25}]
chr1 GH01I023471 23471933 23476783 0.99 [{'connected_gene': 'GC01P023474', 'score': 550.77}, {'connected_gene': 'GC01P023475', 'score': 550.77}, {'connected_gene': 'ASAP3', 'score': 33.52}, {'connected_gene': 'ZNF436-AS1', 'score': 12.55}, {'connected_gene': 'HNRNPR', 'score': 9.9}, {'connected_gene': 'ZNF436', 'score': 9.86}, {'connected_gene': 'TCEA3', 'score': 5.62}, {'connected_gene': 'GC01M023474', 'score': 0.77}]
chr1 GH01I023477 23477428 23477617 0.49 [{'connected_gene': 'GC01P023475', 'score': 550.77}, {'connected_gene': 'GC01M023474', 'score': 550.77}, {'connected_gene': 'GC01P023474', 'score': 0.77}, {'connected_gene': 'ASAP3', 'score': 0.44}]
chr1 GH01I023451 23451205 23453500 1.19 [{'connected_gene': 'GC01P023453', 'score': 550.77}, {'connected_gene': 'ASAP3', 'score': 30.84}, {'connected_gene': 'GC01M023439', 'score': 0.39}]
chr1 GH01I023457 23456348 23456497 0.2 [{'connected_gene': 'GC01P023453', 'score': 0.77}, {'connected_gene': 'GC01P023474', 'score': 0.37}, {'connected_gene': 'ASAP3', 'score': 0.31}]
chr1 GH01I023506 23506849 23506998 0.51 [{'connected_gene': 'PIR36355', 'score': 550.77}, {'connected_gene': 'E2F2', 'score': 12.55}, {'connected_gene': 'ID3', 'score': 10.98}, {'connected_gene': 'ASAP3', 'score': 0.34}]
chr1 GH01I023589 23589002 23603629 1.7 [{'connected_gene': 'PIR62098', 'score': 550.77}, {'connected_gene': 'SRSF10', 'score': 26.64}, {'connected_gene': 'LINC01355', 'score': 21.08}, {'connected_gene': 'E2F2', 'score': 12.7}, {'connected_gene': 'ELOA', 'score': 12.52}, {'connected_gene': 'HNRNPR', 'score': 12.51}, {'connected_gene': 'PNRC2', 'score': 12.16}, {'connected_gene': 'ID3', 'score': 12.15}, {'connected_gene': 'ZNF436', 'score': 11.6}, {'connected_gene': 'RPL11', 'score': 11.32}, {'connected_gene': 'ASAP3', 'score': 10.29}, {'connected_gene': 'ZNF436-AS1', 'score': 10.21}, {'connected_gene': 'ENSG00000201405', 'score': 10.21}, {'connected_gene': 'KDM1A', 'score': 10.09}, {'connected_gene': 'STPG1', 'score': 4.78}, {'connected_gene': 'CNR2', 'score': 1.79}, {'connected_gene': 'MDS2', 'score': 0.39}]

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