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
ENST00000555685 [[44165624, 44166189], [44166602, 44166733], [44171338, 44171506], [44174277, 44174409], [44175905, 44176040]] [[44166171, 44166189], [44166602, 44166733], [44171338, 44171506], [44174277, 44174409], [44175905, 44175996]]
ENST00000354280 [[44169264, 44170793], [44171338, 44171506], [44174277, 44174409], [44175905, 44176063]] [[44170782, 44170793], [44171338, 44171506], [44174277, 44174409], [44175905, 44175996]]
ENST00000409554 [[44170471, 44170793], [44171338, 44171396], [44174277, 44174409], [44175905, 44176391]] [[44171385, 44171396], [44174277, 44174409], [44175905, 44175996]]
ENST00000336443 [[44170483, 44170793], [44171338, 44171506], [44174277, 44175016]] [[44170782, 44170793], [44171338, 44171506], [44174277, 44174452]]
ENST00000496898 [[44170483, 44174409], [44175905, 44175996]] None
NM_020398 [[44169264, 44170793], [44171338, 44171506], [44174277, 44174409], [44175905, 44176065]] [[44170782, 44170793], [44171338, 44171506], [44174277, 44174409], [44175905, 44175996]]
NM_001302861 [[44170483, 44170793], [44171338, 44171517], [44174277, 44174409], [44175905, 44176065]] [[44171356, 44171517], [44174277, 44174409], [44175905, 44175996]]
Promoter
Chrom Start End Description
chr20 44176013 44176045 CAGE_peak_1_at_SPINLW1-WFDC6_5end,CAGE_peak_1_at_SPINLW1_5end
chr20 44176060 44176067 CAGE_peak_2_at_SPINLW1-WFDC6_5end,CAGE_peak_2_at_SPINLW1_5end
chr20 44176288 44176335 CAGE_peak_3_at_SPINLW1-WFDC6_5end,CAGE_peak_3_at_SPINLW1_5end
chr20 44176392 44176402 CAGE_peak_4_at_SPINLW1-WFDC6_5end,CAGE_peak_4_at_SPINLW1_5end
chr20 44176418 44176425 CAGE_peak_5_at_SPINLW1-WFDC6_5end,CAGE_peak_5_at_SPINLW1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I045547 45547391 45547450 0.5 [{'connected_gene': 'EPPIN', 'score': 550.77}, {'connected_gene': 'EPPIN-WFDC6', 'score': 550.77}, {'connected_gene': 'HSPD1P21', 'score': 0.44}]
chr20 GH20I045546 45546182 45546351 0.54 [{'connected_gene': 'EPPIN', 'score': 550.77}, {'connected_gene': 'EPPIN-WFDC6', 'score': 550.77}, {'connected_gene': 'HSPD1P21', 'score': 0.44}]
chr20 GH20I045770 45770782 45771892 1.33 [{'connected_gene': 'WFDC3', 'score': 49.4}, {'connected_gene': 'WFDC13', 'score': 15.78}, {'connected_gene': 'SPINT5P', 'score': 11.34}, {'connected_gene': 'HNRNPA1P3', 'score': 11.32}, {'connected_gene': 'DNTTIP1', 'score': 11.22}, {'connected_gene': 'EPPIN', 'score': 10.26}, {'connected_gene': 'EPPIN-WFDC6', 'score': 10.26}, {'connected_gene': 'HSPD1P21', 'score': 10.25}, {'connected_gene': 'WFDC6', 'score': 10.25}, {'connected_gene': 'ENSG00000232135', 'score': 10.25}, {'connected_gene': 'PIGT', 'score': 9.33}, {'connected_gene': 'GC20P045773', 'score': 0.77}]
chr20 GH20I045765 45765113 45767693 0.31 [{'connected_gene': 'WFDC3', 'score': 34.91}, {'connected_gene': 'WFDC13', 'score': 16.34}, {'connected_gene': 'DNTTIP1', 'score': 15.53}, {'connected_gene': 'HNRNPA1P3', 'score': 11.34}, {'connected_gene': 'EPPIN', 'score': 10.26}, {'connected_gene': 'EPPIN-WFDC6', 'score': 10.26}, {'connected_gene': 'HSPD1P21', 'score': 10.26}, {'connected_gene': 'WFDC6', 'score': 10.26}, {'connected_gene': 'ENSG00000232135', 'score': 10.26}, {'connected_gene': 'SPINT3', 'score': 10.04}, {'connected_gene': 'WFDC10B', 'score': 9.67}, {'connected_gene': 'PIGT', 'score': 9.38}, {'connected_gene': 'PLTP', 'score': 5.41}, {'connected_gene': 'GC20P045773', 'score': 0.44}, {'connected_gene': 'SPINT5P', 'score': 0.37}]
chr20 GH20I045773 45773773 45776369 0.31 [{'connected_gene': 'GC20P045773', 'score': 550.77}, {'connected_gene': 'WFDC3', 'score': 70.67}, {'connected_gene': 'UBE2C', 'score': 10.41}, {'connected_gene': 'SNX21', 'score': 10.38}, {'connected_gene': 'TNNC2', 'score': 10.38}, {'connected_gene': 'EPPIN', 'score': 10.32}, {'connected_gene': 'EPPIN-WFDC6', 'score': 10.32}, {'connected_gene': 'HSPD1P21', 'score': 10.32}, {'connected_gene': 'WFDC6', 'score': 10.32}, {'connected_gene': 'ENSG00000232135', 'score': 10.32}, {'connected_gene': 'GC20P045779', 'score': 0.77}]