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
ENST00000559651 [[102973178, 102974279], [102974811, 102975154]] [[102973272, 102974226]]
ENST00000286918 [[102973178, 102974279], [102974811, 102974886], [102974977, 102975183], [102975865, 102976128]] [[102973272, 102974226]]
ENST00000560748 [[102973212, 102974279], [102974811, 102974886], [102975865, 102976136]] [[102973272, 102974226]]
ENST00000559404 [[102973447, 102974279], [102974811, 102974886], [102974977, 102975572]] [[102973447, 102974226]]
ENST00000557902 [[102973910, 102974279], [102974811, 102974886], [102975072, 102975248]] [[102973910, 102974226]]
NM_152326 [[102973197, 102974279], [102974811, 102974886], [102974977, 102975183], [102975865, 102976128]] [[102973272, 102974226]]
Promoter
Chrom Start End Description
chr14 102974842 102974864 CAGE_peak_5_at_ANKRD9_5end
chr14 102975980 102975995 CAGE_peak_4_at_ANKRD9_5end
chr14 102976009 102976020 CAGE_peak_6_at_ANKRD9_5end
chr14 102976048 102976088 CAGE_peak_1_at_ANKRD9_5end
chr14 102976091 102976133 CAGE_peak_2_at_ANKRD9_5end
chr14 102976135 102976160 CAGE_peak_3_at_ANKRD9_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I102444 102444316 102446357 0.31 [{'connected_gene': 'TECPR2', 'score': 17.91}, {'connected_gene': 'ANKRD9', 'score': 16.13}, {'connected_gene': 'CINP', 'score': 11.13}, {'connected_gene': 'RCOR1', 'score': 10.3}, {'connected_gene': 'ZNF839', 'score': 6.45}, {'connected_gene': 'MOK', 'score': 4.2}, {'connected_gene': 'GC14M102433', 'score': 0.44}, {'connected_gene': 'PIR47306', 'score': 0.22}]
chr14 GH14I102522 102522988 102528999 1.82 [{'connected_gene': 'RCOR1', 'score': 49.82}, {'connected_gene': 'WDR20', 'score': 30.49}, {'connected_gene': 'TECPR2', 'score': 16.91}, {'connected_gene': 'MOK', 'score': 15.93}, {'connected_gene': 'ANKRD9', 'score': 15.78}, {'connected_gene': 'ZNF839', 'score': 14.99}, {'connected_gene': 'CDC42BPB', 'score': 14.46}, {'connected_gene': 'TRAF3', 'score': 13.41}, {'connected_gene': 'RNU6-244P', 'score': 11.28}, {'connected_gene': 'DYNC1H1', 'score': 11.05}, {'connected_gene': 'ENSG00000271780', 'score': 10.5}, {'connected_gene': 'CINP', 'score': 10.47}, {'connected_gene': 'ENSG00000272444', 'score': 10.39}, {'connected_gene': 'CKB', 'score': 10.0}, {'connected_gene': 'ENSG00000259775', 'score': 9.67}, {'connected_gene': 'LOC105370680', 'score': 0.44}, {'connected_gene': 'MIR4309', 'score': 0.39}]
chr14 GH14I102461 102461183 102463300 0.66 [{'connected_gene': 'ANKRD9', 'score': 17.59}, {'connected_gene': 'TECPR2', 'score': 8.92}, {'connected_gene': 'ZNF839', 'score': 6.18}, {'connected_gene': 'MOK', 'score': 4.15}, {'connected_gene': 'GC14M102433', 'score': 0.34}, {'connected_gene': 'PIR47306', 'score': 0.28}]
chr14 GH14I102479 102479283 102480838 0.86 [{'connected_gene': 'ANKRD9', 'score': 24.68}, {'connected_gene': 'TECPR2', 'score': 6.03}, {'connected_gene': 'PIR47306', 'score': 0.34}, {'connected_gene': 'GC14M102433', 'score': 0.26}]
chr14 GH14I102495 102495782 102497888 0.38 [{'connected_gene': 'ANKRD9', 'score': 17.02}, {'connected_gene': 'TECPR2', 'score': 6.26}, {'connected_gene': 'PIR47306', 'score': 0.77}, {'connected_gene': 'GC14M102433', 'score': 0.22}]
chr14 GH14I102481 102481884 102482053 1.02 [{'connected_gene': 'ANKRD9', 'score': 18.39}, {'connected_gene': 'PIR47306', 'score': 0.37}, {'connected_gene': 'GC14M102433', 'score': 0.26}, {'connected_gene': 'TECPR2', 'score': 0.13}]
chr14 GH14I102492 102492419 102492985 0.2 [{'connected_gene': 'ANKRD9', 'score': 18.07}, {'connected_gene': 'PIR47306', 'score': 0.44}, {'connected_gene': 'GC14M102433', 'score': 0.23}, {'connected_gene': 'TECPR2', 'score': 0.13}]
chr14 GH14I102463 102463999 102466789 0.73 [{'connected_gene': 'ANKRD9', 'score': 10.99}, {'connected_gene': 'ENSG00000271780', 'score': 10.11}, {'connected_gene': 'CDC42BPB', 'score': 10.06}, {'connected_gene': 'TECPR2', 'score': 6.92}, {'connected_gene': 'ZNF839', 'score': 6.72}, {'connected_gene': 'GC14M102433', 'score': 0.31}, {'connected_gene': 'PIR47306', 'score': 0.28}]
chr14 GH14I102503 102503571 102505975 1.28 [{'connected_gene': 'ANKRD9', 'score': 18.65}, {'connected_gene': 'RCOR1', 'score': 10.25}, {'connected_gene': 'TECPR2', 'score': 10.14}, {'connected_gene': 'CINP', 'score': 10.14}, {'connected_gene': 'ZNF839', 'score': 7.71}, {'connected_gene': 'RNU6-244P', 'score': 0.77}]
chr14 GH14I102530 102530347 102532873 1.53 [{'connected_gene': 'ANKRD9', 'score': 17.89}, {'connected_gene': 'RCOR1', 'score': 17.85}, {'connected_gene': 'TRAF3', 'score': 9.05}, {'connected_gene': 'MIR4309', 'score': 0.44}, {'connected_gene': 'LOC105370680', 'score': 0.39}]
chr14 GH14I102507 102507423 102512293 2.41 [{'connected_gene': 'ANKRD9', 'score': 574.01}, {'connected_gene': 'LOC105370679', 'score': 550.77}, {'connected_gene': 'RCOR1', 'score': 10.85}, {'connected_gene': 'TECPR2', 'score': 10.38}, {'connected_gene': 'CINP', 'score': 10.38}, {'connected_gene': 'ZNF839', 'score': 6.3}, {'connected_gene': 'AMN', 'score': 1.73}]
chr14 GH14I102516 102516164 102518206 1.35 [{'connected_gene': 'LOC105370680', 'score': 550.77}, {'connected_gene': 'ANKRD9', 'score': 16.89}, {'connected_gene': 'RCOR1', 'score': 11.18}, {'connected_gene': 'TECPR2', 'score': 6.41}, {'connected_gene': 'LOC105370679', 'score': 0.44}]
chr14 GH14I102438 102438940 102440808 0.31 [{'connected_gene': 'GC14M102433', 'score': 550.77}, {'connected_gene': 'TECPR2', 'score': 17.6}, {'connected_gene': 'ANKRD9', 'score': 12.06}, {'connected_gene': 'CINP', 'score': 10.83}, {'connected_gene': 'RCOR1', 'score': 10.38}, {'connected_gene': 'TRAF3', 'score': 9.98}, {'connected_gene': 'ZNF839', 'score': 6.79}, {'connected_gene': 'PIR47306', 'score': 0.21}]
chr14 GH14I102502 102502745 102502813 0.31 [{'connected_gene': 'PIR47306', 'score': 550.77}, {'connected_gene': 'GC14P103124', 'score': 550.77}, {'connected_gene': 'RNU6-244P', 'score': 550.77}, {'connected_gene': 'RCOR1', 'score': 10.25}, {'connected_gene': 'TECPR2', 'score': 10.14}, {'connected_gene': 'CINP', 'score': 10.14}, {'connected_gene': 'ANKRD9', 'score': 0.44}]
chr14 GH14I102498 102498053 102502322 1.14 [{'connected_gene': 'GC14P103124', 'score': 550.77}, {'connected_gene': 'RNU6-244P', 'score': 550.77}, {'connected_gene': 'PIR47306', 'score': 550.77}, {'connected_gene': 'ANKRD9', 'score': 17.64}, {'connected_gene': 'TECPR2', 'score': 16.0}, {'connected_gene': 'RCOR1', 'score': 10.24}, {'connected_gene': 'CINP', 'score': 10.14}, {'connected_gene': 'GC14M102433', 'score': 0.21}]