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
ENST00000370830 [[55618442, 55620480], [55623802, 55623913], [55625254, 55625331], [55638846, 55639041], [55659076, 55659225], [55684452, 55684645], [55739173, 55740362]] [[55620330, 55620480], [55623802, 55623913], [55625254, 55625331], [55638846, 55639041], [55659076, 55659225], [55684452, 55684645], [55739173, 55739663]]
ENST00000446683 [[55619724, 55620480], [55625254, 55625331], [55638846, 55639041], [55659076, 55659225], [55684452, 55684645], [55739173, 55739677]] [[55620330, 55620480], [55625254, 55625331], [55638846, 55639041], [55659076, 55659225], [55684452, 55684645], [55739173, 55739663]]
NM_021073 [[55618450, 55620480], [55623802, 55623913], [55625254, 55625331], [55638846, 55639041], [55659076, 55659225], [55684452, 55684645], [55739173, 55740388]] [[55620330, 55620480], [55623802, 55623913], [55625254, 55625331], [55638846, 55639041], [55659076, 55659225], [55684452, 55684645], [55739173, 55739663]]
NM_001329754 [[55618450, 55620480], [55625254, 55625331], [55638846, 55639041], [55659076, 55659225], [55684452, 55684645], [55739173, 55740388]] [[55620330, 55620480], [55625254, 55625331], [55638846, 55639041], [55659076, 55659225], [55684452, 55684645], [55739173, 55739663]]
NM_001329756 [[55618450, 55620480], [55638846, 55639041], [55659076, 55659225], [55684452, 55684645], [55739173, 55740388]] [[55620460, 55620480], [55638846, 55639041], [55659076, 55659225], [55684452, 55684645], [55739173, 55739663]]
Promoter
Chrom Start End Description
chr6 55740051 55740056 CAGE_peak_5_at_BMP5_5end
chr6 55740352 55740361 CAGE_peak_2_at_BMP5_5end
chr6 55740381 55740398 CAGE_peak_1_at_BMP5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I055755 55755540 55759842 0.96 [{'connected_gene': 'BMP5', 'score': 4.8}, {'connected_gene': 'GC06P055778', 'score': 0.34}, {'connected_gene': 'GC06P055722', 'score': 0.28}]
chr6 GH06I055865 55865681 55867481 0.83 [{'connected_gene': 'BMP5', 'score': 0.44}, {'connected_gene': 'PIR53614', 'score': 0.44}]
chr6 GH06I055867 55867853 55870381 0.98 [{'connected_gene': 'BMP5', 'score': 0.44}, {'connected_gene': 'PIR53614', 'score': 0.39}]
chr6 GH06I055822 55822943 55823092 0.4 [{'connected_gene': 'PIR53614', 'score': 0.29}, {'connected_gene': 'GC06P055778', 'score': 0.26}, {'connected_gene': 'BMP5', 'score': 0.23}]
chr6 GH06I055842 55842052 55842410 0.42 [{'connected_gene': 'PIR53614', 'score': 0.39}, {'connected_gene': 'BMP5', 'score': 0.29}, {'connected_gene': 'GC06P055778', 'score': 0.21}]
chr6 GH06I055827 55827712 55828662 0.67 [{'connected_gene': 'PIR53614', 'score': 0.31}, {'connected_gene': 'GC06P055778', 'score': 0.25}, {'connected_gene': 'BMP5', 'score': 0.25}]
chr6 GH06I055776 55776142 55776449 0.63 [{'connected_gene': 'GC06P055778', 'score': 550.77}, {'connected_gene': 'GC06P055722', 'score': 0.23}, {'connected_gene': 'BMP5', 'score': 0.15}]
chr6 GH06I055793 55793930 55795055 0.38 [{'connected_gene': 'GC06P055778', 'score': 0.37}, {'connected_gene': 'PIR53614', 'score': 0.21}, {'connected_gene': 'BMP5', 'score': 0.18}]
chr6 GH06I055874 55874040 55876172 1.01 [{'connected_gene': 'PIR59218', 'score': 550.77}, {'connected_gene': 'BMP5', 'score': 550.77}, {'connected_gene': 'PIR53614', 'score': 0.37}]
chr6 GH06I055852 55852775 55854072 0.31 [{'connected_gene': 'PIR53614', 'score': 0.77}, {'connected_gene': 'BMP5', 'score': 0.34}, {'connected_gene': 'GC06P055778', 'score': 0.18}]
chr6 GH06I055834 55834912 55835980 0.31 [{'connected_gene': 'PIR53614', 'score': 0.34}, {'connected_gene': 'BMP5', 'score': 0.26}, {'connected_gene': 'GC06P055778', 'score': 0.22}]
chr6 GH06I055824 55824315 55827644 0.83 [{'connected_gene': 'PIR53614', 'score': 0.29}, {'connected_gene': 'GC06P055778', 'score': 0.25}, {'connected_gene': 'BMP5', 'score': 0.25}]
chr6 GH06I055820 55820957 55822380 0.43 [{'connected_gene': 'PIR53614', 'score': 0.28}, {'connected_gene': 'GC06P055778', 'score': 0.26}, {'connected_gene': 'BMP5', 'score': 0.23}]
chr6 GH06I055831 55831417 55832879 0.2 [{'connected_gene': 'PIR53614', 'score': 0.34}, {'connected_gene': 'BMP5', 'score': 0.26}, {'connected_gene': 'GC06P055778', 'score': 0.23}]
chr6 GH06I055828 55828946 55829688 0.31 [{'connected_gene': 'PIR53614', 'score': 0.31}, {'connected_gene': 'BMP5', 'score': 0.25}, {'connected_gene': 'GC06P055778', 'score': 0.23}]