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
ENST00000290122 [[22328148, 22328210], [22329495, 22329581], [22331939, 22332037], [22332154, 22332289], [22333370, 22333507], [22333865, 22334008], [22336197, 22336350], [22338942, 22339015]] [[22328167, 22328210], [22329495, 22329581], [22331939, 22332037], [22332154, 22332289], [22333370, 22333507], [22333865, 22334008], [22336197, 22336350], [22338942, 22338960]]
ENST00000374663 [[22328152, 22328210], [22329495, 22329581], [22331939, 22332037], [22332154, 22332561]] [[22328167, 22328210], [22329495, 22329581], [22331939, 22332037], [22332154, 22332293]]
ENST00000400271 [[22333942, 22334008], [22336197, 22336350], [22336630, 22336678], [22338942, 22339032]] [[22333942, 22334008], [22336197, 22336350], [22336630, 22336639]]
NM_005747 [[22328148, 22328210], [22329495, 22329581], [22331939, 22332037], [22332154, 22332289], [22333370, 22333507], [22333865, 22334008], [22336197, 22336350], [22338942, 22339035]] [[22328167, 22328210], [22329495, 22329581], [22331939, 22332037], [22332154, 22332289], [22333370, 22333507], [22333865, 22334008], [22336197, 22336350], [22338942, 22338960]]
Promoter
Chrom Start End Description
chr1 22328001 22328010 CAGE_peak_3_at_CELA3A_5end
chr1 22328144 22328155 CAGE_peak_1_at_CELA3A_5end
chr1 22333411 22333445 CAGE_peak_2_at_CELA3A_5end
chr1 22333871 22333877 CAGE_peak_4_at_CELA3A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I022006 22006736 22007826 0.43 [{'connected_gene': 'CDC42', 'score': 6.68}, {'connected_gene': 'CELA3B', 'score': 5.06}, {'connected_gene': 'RN7SL186P', 'score': 0.77}, {'connected_gene': 'GC01M022003', 'score': 0.77}, {'connected_gene': 'CELA3A', 'score': 0.44}]
chr1 GH01I021996 21996357 22001610 1.12 [{'connected_gene': 'CDC42', 'score': 11.56}, {'connected_gene': 'LINC01635', 'score': 9.24}, {'connected_gene': 'CELA3B', 'score': 6.57}, {'connected_gene': 'CELA3A', 'score': 5.7}, {'connected_gene': 'GC01P021996', 'score': 0.44}]
chr1 GH01I021995 21995348 21996140 0.31 [{'connected_gene': 'CDC42', 'score': 11.68}, {'connected_gene': 'CELA3A', 'score': 5.17}, {'connected_gene': 'GC01P021996', 'score': 0.77}, {'connected_gene': 'CELA3B', 'score': 0.37}]
chr1 GH01I022009 22009336 22010100 0.38 [{'connected_gene': 'RN7SL186P', 'score': 550.77}, {'connected_gene': 'RNU6-776P', 'score': 550.77}, {'connected_gene': 'GC01P022021', 'score': 550.77}, {'connected_gene': 'LINC01635', 'score': 9.04}, {'connected_gene': 'CDC42', 'score': 7.41}, {'connected_gene': 'GC01M022003', 'score': 0.44}, {'connected_gene': 'CELA3A', 'score': 0.44}]
chr1 GH01I022012 22012382 22013136 0.2 [{'connected_gene': 'RNU6-776P', 'score': 550.77}, {'connected_gene': 'GC01P022021', 'score': 550.77}, {'connected_gene': 'CELA3A', 'score': 0.39}, {'connected_gene': 'LINC00339', 'score': 0.39}]
chr1 GH01I022140 22140839 22141185 0.53 [{'connected_gene': 'LOC105376845', 'score': 550.77}, {'connected_gene': 'CELA3A', 'score': 7.07}, {'connected_gene': 'CELA3B', 'score': 7.02}, {'connected_gene': 'LINC00339', 'score': 6.13}, {'connected_gene': 'WNT4', 'score': 0.77}, {'connected_gene': 'GC01P022144', 'score': 0.77}]
chr1 GH01I022001 22001611 22001670 0.81 [{'connected_gene': 'CELA3A', 'score': 550.77}, {'connected_gene': 'GC01P021996', 'score': 0.44}]
chr1 GH01I022004 22004529 22006497 0.56 [{'connected_gene': 'GC01M022003', 'score': 550.77}, {'connected_gene': 'CDC42', 'score': 9.36}, {'connected_gene': 'LINC01635', 'score': 9.1}, {'connected_gene': 'CELA3A', 'score': 0.77}, {'connected_gene': 'RN7SL186P', 'score': 0.44}]
chr1 GH01I021993 21993681 21994993 0.2 [{'connected_gene': 'GC01P021996', 'score': 550.77}, {'connected_gene': 'CDC42', 'score': 9.98}, {'connected_gene': 'CELA3A', 'score': 4.96}, {'connected_gene': 'CELA3B', 'score': 0.37}]
chr1 GH01I022002 22002432 22003609 0.2 [{'connected_gene': 'GC01M022003', 'score': 550.77}, {'connected_gene': 'CELA3A', 'score': 550.77}, {'connected_gene': 'LINC01635', 'score': 9.16}, {'connected_gene': 'CDC42', 'score': 9.14}]