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
ENST00000266742 [[97301000, 97301078], [97301381, 97301634], [97303529, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97347129]] [[97303537, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97345831]]
ENST00000429527 [[97301001, 97301078], [97303529, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97347129]] [[97303537, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97345831]]
ENST00000554226 [[97301007, 97301078], [97301381, 97301402], [97303529, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313896]] [[97301389, 97301402], [97303529, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313896]]
ENST00000557478 [[97301007, 97301100], [97303529, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313903], [97328753, 97328758]] [[97303537, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313903], [97328753, 97328758]]
ENST00000557092 [[97301010, 97301078], [97301381, 97301402], [97301479, 97301634], [97303529, 97303673], [97306500, 97306595], [97311398, 97311469]] [[97303537, 97303673], [97306500, 97306595], [97311398, 97311469]]
ENST00000555806 [[97301010, 97301078], [97301381, 97301402], [97311398, 97311515], [97313762, 97313903], [97318610, 97318720], [97330388, 97330496]] [[97311434, 97311515], [97313762, 97313903], [97318610, 97318634]]
ENST00000555114 [[97301015, 97301078], [97301381, 97301634], [97313762, 97313903], [97328753, 97328983], [97330388, 97330432]] None
ENST00000411739 [[97301015, 97301078], [97301381, 97301634], [97311398, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97346253]] [[97311434, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97345831]]
ENST00000557400 [[97301034, 97301078], [97303529, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313903], [97318610, 97318673]] None
ENST00000553609 [[97301034, 97301078], [97301381, 97301402], [97311398, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330416]] [[97311434, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330416]]
ENST00000557454 [[97301034, 97301078], [97313762, 97313903], [97328753, 97328983], [97330388, 97330537]] None
ENST00000557644 [[97301243, 97301402], [97303529, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97346048]] [[97301389, 97301402], [97303529, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97345831]]
ENST00000457368 [[97306353, 97306595], [97311398, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97346999]] [[97311434, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97345831]]
NM_001135176 [[97301000, 97301078], [97303529, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97347469]] [[97303537, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97345831]]
NM_001135177 [[97301000, 97301078], [97301381, 97301634], [97311398, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97347469]] [[97311434, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97345831]]
NM_152905 [[97301000, 97301078], [97301381, 97301634], [97303529, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97347469]] [[97303537, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97345831]]
NM_001135175 [[97301243, 97301402], [97303529, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97347469]] [[97301389, 97301402], [97303529, 97303673], [97306500, 97306595], [97311398, 97311515], [97313762, 97313903], [97328753, 97328983], [97330388, 97330590], [97330975, 97331171], [97334186, 97334315], [97336354, 97336402], [97337337, 97337540], [97338416, 97338573], [97339470, 97339627], [97345209, 97345276], [97345726, 97345831]]
Promoter
Chrom Start End Description
chr12 97300995 97301054 CAGE_peak_1_at_NEDD1_5end
chr12 97306283 97306292 CAGE_peak_3_at_NEDD1_5end
chr12 97306295 97306304 CAGE_peak_4_at_NEDD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I096444 96444460 96449168 1.56 [{'connected_gene': 'CDK17', 'score': 32.28}, {'connected_gene': 'CFAP54', 'score': 11.13}, {'connected_gene': 'NEDD1', 'score': 2.23}, {'connected_gene': 'RN7SKP11', 'score': 0.37}, {'connected_gene': 'ENSG00000258272', 'score': 0.28}, {'connected_gene': 'GC12M096423', 'score': 0.1}]
chr12 GH12I096433 96433565 96435114 1.33 [{'connected_gene': 'CFAP54', 'score': 11.29}, {'connected_gene': 'CDK17', 'score': 7.84}, {'connected_gene': 'NEDD1', 'score': 2.47}, {'connected_gene': 'RN7SKP11', 'score': 0.44}, {'connected_gene': 'ENSG00000258272', 'score': 0.23}, {'connected_gene': 'GC12M096423', 'score': 0.09}]
chr12 GH12I096863 96862463 96862612 0.38 [{'connected_gene': 'NEDD1', 'score': 30.78}, {'connected_gene': 'GC12P096819', 'score': 0.26}, {'connected_gene': 'EEF1A1P33', 'score': 0.26}, {'connected_gene': 'GC12M096855', 'score': 0.25}, {'connected_gene': 'CFAP54', 'score': 0.05}]
chr12 GH12I096862 96862743 96862892 0.31 [{'connected_gene': 'NEDD1', 'score': 10.91}, {'connected_gene': 'EEF1A1P33', 'score': 0.28}, {'connected_gene': 'GC12P096819', 'score': 0.26}, {'connected_gene': 'GC12M096855', 'score': 0.25}, {'connected_gene': 'CFAP54', 'score': 0.05}]
chr12 GH12I096886 96886978 96887562 0.38 [{'connected_gene': 'NEDD1', 'score': 44.51}, {'connected_gene': 'EEF1A1P33', 'score': 0.37}, {'connected_gene': 'GC12M096855', 'score': 0.34}, {'connected_gene': 'GC12P096819', 'score': 0.2}]
chr12 GH12I096878 96878283 96879773 0.31 [{'connected_gene': 'NEDD1', 'score': 41.61}, {'connected_gene': 'EEF1A1P33', 'score': 0.34}, {'connected_gene': 'GC12M096855', 'score': 0.29}, {'connected_gene': 'GC12P096819', 'score': 0.22}]
chr12 GH12I096889 96889061 96890980 0.72 [{'connected_gene': 'NEDD1', 'score': 44.2}, {'connected_gene': 'EEF1A1P33', 'score': 0.39}, {'connected_gene': 'GC12M096855', 'score': 0.37}, {'connected_gene': 'GC12P096819', 'score': 0.19}]
chr12 GH12I096719 96719606 96720853 0.69 [{'connected_gene': 'NEDD1', 'score': 12.06}, {'connected_gene': 'GC12P096684', 'score': 0.28}, {'connected_gene': 'GC12P096683', 'score': 0.28}, {'connected_gene': 'GC12P096819', 'score': 0.15}, {'connected_gene': 'CFAP54', 'score': 0.07}]
chr12 GH12I096809 96809772 96811852 0.87 [{'connected_gene': 'NEDD1', 'score': 21.73}, {'connected_gene': 'GC12P096819', 'score': 0.44}, {'connected_gene': 'GC12P096684', 'score': 0.13}, {'connected_gene': 'GC12P096683', 'score': 0.13}, {'connected_gene': 'CFAP54', 'score': 0.05}]
chr12 GH12I096911 96911401 96911600 0.38 [{'connected_gene': 'NEDD1', 'score': 57.63}, {'connected_gene': 'GC12M096855', 'score': 0.77}, {'connected_gene': 'GC12M096980', 'score': 0.2}, {'connected_gene': 'ENSG00000202368', 'score': 0.2}]
chr12 GH12I096906 96906144 96908767 2.03 [{'connected_gene': 'NEDD1', 'score': 604.48}, {'connected_gene': 'GC12M096855', 'score': 550.77}]
chr12 GH12I096980 96980350 96981756 0.69 [{'connected_gene': 'GC12M096980', 'score': 550.77}, {'connected_gene': 'ENSG00000202368', 'score': 550.77}, {'connected_gene': 'NEDD1', 'score': 26.78}, {'connected_gene': 'LOC105369928', 'score': 0.77}]
chr12 GH12I096909 96909201 96909600 0.2 [{'connected_gene': 'GC12M096855', 'score': 550.77}, {'connected_gene': 'NEDD1', 'score': 0.77}, {'connected_gene': 'GC12M096980', 'score': 0.19}, {'connected_gene': 'ENSG00000202368', 'score': 0.19}]