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
ENST00000290079 [[139685806, 139685876], [139686162, 139686229], [139686398, 139686482], [139686702, 139686810], [139687270, 139687709]] [[139685822, 139685876], [139686162, 139686229], [139686398, 139686482], [139686702, 139686810], [139687270, 139687284]]
ENST00000465017 [[139685819, 139685876], [139686077, 139686229], [139686398, 139686482], [139686702, 139686810], [139687270, 139687708]] None
ENST00000483187 [[139685823, 139685876], [139686398, 139686482], [139686702, 139686810], [139687270, 139687708]] None
ENST00000479737 [[139685830, 139685876], [139686229, 139686482], [139686702, 139686810], [139687270, 139687354]] None
ENST00000484854 [[139685842, 139686229], [139686398, 139686482], [139686702, 139686798]] None
ENST00000489739 [[139685855, 139685876], [139686162, 139686229], [139686398, 139686810], [139687270, 139687321]] None
NM_032928 [[139685776, 139685876], [139686162, 139686229], [139686398, 139686482], [139686702, 139686810], [139687270, 139687769]] [[139685822, 139685876], [139686162, 139686229], [139686398, 139686482], [139686702, 139686810], [139687270, 139687284]]
Promoter
Chrom Start End Description
chr9 139685772 139685781 CAGE_peak_2_at_TMEM141_5end
chr9 139685782 139685832 CAGE_peak_1_at_TMEM141_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I136787 136787601 136801825 2.51 [{'connected_gene': 'TMEM141', 'score': 561.35}, {'connected_gene': 'CCDC183', 'score': 550.77}, {'connected_gene': 'DPH7', 'score': 30.0}, {'connected_gene': 'LCN8', 'score': 18.18}, {'connected_gene': 'ANAPC2', 'score': 15.3}, {'connected_gene': 'ABCA2', 'score': 14.83}, {'connected_gene': 'SNHG7', 'score': 12.17}, {'connected_gene': 'LCN10', 'score': 11.88}, {'connected_gene': 'EXD3', 'score': 11.43}, {'connected_gene': 'LCN12', 'score': 11.33}, {'connected_gene': 'PRR31', 'score': 11.32}, {'connected_gene': 'FBXW5', 'score': 10.78}, {'connected_gene': 'C8G', 'score': 10.78}, {'connected_gene': 'MAN1B1', 'score': 10.41}, {'connected_gene': 'SEC16A', 'score': 10.17}, {'connected_gene': 'QSOX2', 'score': 9.92}, {'connected_gene': 'SDCCAG3', 'score': 9.71}, {'connected_gene': 'ENSG00000273066', 'score': 0.77}, {'connected_gene': 'ENSG00000272896', 'score': 0.77}, {'connected_gene': 'ENSG00000272679', 'score': 0.44}]
chr9 GH09I136898 136898192 136900040 0.72 [{'connected_gene': 'TMEM141', 'score': 11.67}, {'connected_gene': 'PAXX', 'score': 7.39}, {'connected_gene': 'LCNL1', 'score': 5.96}, {'connected_gene': 'MIR4479', 'score': 0.39}, {'connected_gene': 'TRAF2', 'score': 0.37}, {'connected_gene': 'PIR43412', 'score': 0.34}]
chr9 GH09I136549 136549610 136554075 1.61 [{'connected_gene': 'INPP5E', 'score': 20.34}, {'connected_gene': 'SEC16A', 'score': 13.79}, {'connected_gene': 'C9orf163', 'score': 12.05}, {'connected_gene': 'TMEM203', 'score': 10.07}, {'connected_gene': 'NOTCH1', 'score': 9.64}, {'connected_gene': 'NALT1', 'score': 5.27}, {'connected_gene': 'SDCCAG3', 'score': 1.47}, {'connected_gene': 'TMEM141', 'score': 1.4}, {'connected_gene': 'MIR4674', 'score': 0.44}, {'connected_gene': 'LINC01451', 'score': 0.2}]
chr9 GH09I136769 136769088 136770726 0.9 [{'connected_gene': 'LCN15', 'score': 550.77}, {'connected_gene': 'LCN8', 'score': 19.29}, {'connected_gene': 'TMEM141', 'score': 5.88}]
chr9 GH09I136895 136895718 136897727 0.43 [{'connected_gene': 'FUT7', 'score': 11.86}, {'connected_gene': 'ABCA2', 'score': 11.86}, {'connected_gene': 'NPDC1', 'score': 11.85}, {'connected_gene': 'ENTPD2', 'score': 11.84}, {'connected_gene': 'TMEM141', 'score': 11.67}, {'connected_gene': 'PAXX', 'score': 7.41}, {'connected_gene': 'PHPT1', 'score': 6.39}, {'connected_gene': 'MIR4479', 'score': 0.44}, {'connected_gene': 'TRAF2', 'score': 0.39}, {'connected_gene': 'PIR43412', 'score': 0.31}]
chr9 GH09I136784 136784686 136786448 0.9 [{'connected_gene': 'LCN8', 'score': 18.35}, {'connected_gene': 'ABCA2', 'score': 14.93}, {'connected_gene': 'NDOR1', 'score': 12.38}, {'connected_gene': 'LCN10', 'score': 11.91}, {'connected_gene': 'CCDC183-AS1', 'score': 11.84}, {'connected_gene': 'RABL6', 'score': 11.84}, {'connected_gene': 'LCN12', 'score': 11.32}, {'connected_gene': 'PRR31', 'score': 11.31}, {'connected_gene': 'FBXW5', 'score': 10.78}, {'connected_gene': 'C8G', 'score': 10.78}, {'connected_gene': 'MAN1B1', 'score': 9.69}, {'connected_gene': 'TMEM141', 'score': 7.23}, {'connected_gene': 'ATP6V1G1P3', 'score': 0.44}]
chr9 GH09I136678 136678380 136680203 1.06 [{'connected_gene': 'AGPAT2', 'score': 15.65}, {'connected_gene': 'TMEM141', 'score': 6.21}, {'connected_gene': 'MIR126', 'score': 0.44}]
chr9 GH09I136884 136884710 136887839 2.23 [{'connected_gene': 'MIR4479', 'score': 550.77}, {'connected_gene': 'TRAF2', 'score': 550.77}, {'connected_gene': 'LOC105376326', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 38.48}, {'connected_gene': 'SDCCAG3', 'score': 24.18}, {'connected_gene': 'ANAPC2', 'score': 22.04}, {'connected_gene': 'PHPT1', 'score': 21.75}, {'connected_gene': 'SNHG7', 'score': 16.35}, {'connected_gene': 'LOC651337', 'score': 15.58}, {'connected_gene': 'MAMDC4', 'score': 12.44}, {'connected_gene': 'AJM1', 'score': 12.42}, {'connected_gene': 'FBXW5', 'score': 11.85}, {'connected_gene': 'C8G', 'score': 11.85}, {'connected_gene': 'LCN12', 'score': 11.84}, {'connected_gene': 'TMEM141', 'score': 11.81}, {'connected_gene': 'PRR31', 'score': 11.74}, {'connected_gene': 'CCDC183-AS1', 'score': 11.55}, {'connected_gene': 'RABL6', 'score': 11.55}, {'connected_gene': 'CCDC183', 'score': 11.54}, {'connected_gene': 'ABCA2', 'score': 11.36}, {'connected_gene': 'C9orf139', 'score': 11.36}, {'connected_gene': 'EXD3', 'score': 10.7}, {'connected_gene': 'MAN1B1', 'score': 10.32}, {'connected_gene': 'DPP7', 'score': 10.31}, {'connected_gene': 'GRIN1', 'score': 10.31}, {'connected_gene': 'SSNA1', 'score': 10.29}, {'connected_gene': 'TPRN', 'score': 10.29}, {'connected_gene': 'DPH7', 'score': 9.84}, {'connected_gene': 'LCNL1', 'score': 5.9}]
chr9 GH09I136900 136900192 136904156 1.26 [{'connected_gene': 'TRAF2', 'score': 12.81}, {'connected_gene': 'TMEM141', 'score': 11.66}, {'connected_gene': 'PHPT1', 'score': 10.94}, {'connected_gene': 'MAN1B1', 'score': 10.78}, {'connected_gene': 'ANAPC2', 'score': 10.64}, {'connected_gene': 'LCN12', 'score': 8.09}, {'connected_gene': 'PAXX', 'score': 6.64}, {'connected_gene': 'SAPCD2', 'score': 4.88}, {'connected_gene': 'MIR4479', 'score': 0.37}, {'connected_gene': 'PIR43412', 'score': 0.34}]
chr9 GH09I136881 136881316 136884008 1.4 [{'connected_gene': 'TRAF2', 'score': 550.77}, {'connected_gene': 'PHPT1', 'score': 23.32}, {'connected_gene': 'MAMDC4', 'score': 12.46}, {'connected_gene': 'AJM1', 'score': 12.44}, {'connected_gene': 'TMEM141', 'score': 11.81}, {'connected_gene': 'LCN12', 'score': 11.77}, {'connected_gene': 'PRR31', 'score': 11.73}, {'connected_gene': 'FBXW5', 'score': 11.6}, {'connected_gene': 'C8G', 'score': 11.6}, {'connected_gene': 'RABL6', 'score': 11.39}, {'connected_gene': 'ABCA2', 'score': 11.36}, {'connected_gene': 'C9orf139', 'score': 11.36}, {'connected_gene': 'CCDC183', 'score': 11.36}, {'connected_gene': 'CCDC183-AS1', 'score': 10.91}, {'connected_gene': 'SSNA1', 'score': 10.29}, {'connected_gene': 'ANAPC2', 'score': 10.29}, {'connected_gene': 'TPRN', 'score': 10.29}, {'connected_gene': 'LOC105376326', 'score': 0.77}]