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
ENST00000442070 [[124622025, 124622582], [124624109, 124624236], [124624536, 124624659], [124631980, 124632186]] [[124622476, 124622582], [124624109, 124624236], [124624536, 124624659], [124631980, 124632050]]
ENST00000444566 [[124622478, 124622582], [124624109, 124624236], [124624536, 124624659], [124631980, 124632186]] [[124622478, 124622582], [124624109, 124624236], [124624536, 124624659], [124631980, 124632050]]
ENST00000485116 [[124623018, 124623857], [124624109, 124624236], [124624536, 124624659], [124626102, 124626258], [124626436, 124627433]] None
ENST00000417453 [[124623018, 124623857], [124624109, 124624236], [124624525, 124624659], [124626102, 124626258], [124626436, 124626638], [124628244, 124628423], [124631980, 124632176]] [[124624528, 124624659], [124626102, 124626258], [124626436, 124626638], [124628244, 124628423], [124631980, 124632050]]
ENST00000278927 [[124623018, 124623857], [124624109, 124624236], [124624536, 124624659], [124626102, 124626258], [124626436, 124626638], [124628244, 124628423], [124631980, 124632180]] [[124623541, 124623857], [124624109, 124624236], [124624536, 124624659], [124626102, 124626258], [124626436, 124626638], [124628244, 124628423], [124631980, 124632050]]
ENST00000464067 [[124623094, 124623857], [124624109, 124624236], [124624536, 124624659], [124626102, 124627425]] None
ENST00000435477 [[124624140, 124624236], [124624536, 124624659], [124626102, 124626258], [124631980, 124632186]] [[124624140, 124624236], [124624536, 124624659], [124626102, 124626258], [124631980, 124632050]]
NM_138961 [[124623018, 124623857], [124624109, 124624236], [124624536, 124624659], [124626102, 124626258], [124626436, 124626638], [124628244, 124628423], [124631980, 124632223]] [[124623541, 124623857], [124624109, 124624236], [124624536, 124624659], [124626102, 124626258], [124626436, 124626638], [124628244, 124628423], [124631980, 124632050]]
Promoter
Chrom Start End Description
chr11 124632179 124632199 CAGE_peak_1_at_ESAM_5end
chr11 124633286 124633290 CAGE_peak_2_at_ESAM_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I124757 124757925 124764348 2.38 [{'connected_gene': 'ESAM', 'score': 563.31}, {'connected_gene': 'ROBO4', 'score': 17.27}, {'connected_gene': 'VSIG2', 'score': 5.77}, {'connected_gene': 'SPA17', 'score': 5.7}, {'connected_gene': 'NRGN', 'score': 5.69}, {'connected_gene': 'LOC101929340', 'score': 0.77}, {'connected_gene': 'GC11P124760', 'score': 0.77}]
chr11 GH11I124776 124776266 124776325 0.5 [{'connected_gene': 'MSANTD2', 'score': 550.34}, {'connected_gene': 'VSIG2', 'score': 5.57}, {'connected_gene': 'ESAM', 'score': 0.39}, {'connected_gene': 'ENSG00000254509', 'score': 0.39}]
chr11 GH11I124836 124836087 124838070 0.94 [{'connected_gene': 'ROBO3', 'score': 11.97}, {'connected_gene': 'MSANTD2', 'score': 11.93}, {'connected_gene': 'LOC100507283', 'score': 11.93}, {'connected_gene': 'SIAE', 'score': 11.35}, {'connected_gene': 'SPA17', 'score': 11.33}, {'connected_gene': 'ESAM', 'score': 11.0}, {'connected_gene': 'LOC101929340', 'score': 10.99}, {'connected_gene': 'VSIG2', 'score': 10.98}, {'connected_gene': 'ENSG00000255045', 'score': 10.97}, {'connected_gene': 'NRGN', 'score': 10.86}, {'connected_gene': 'ROBO4', 'score': 9.57}, {'connected_gene': 'CCDC15', 'score': 9.3}, {'connected_gene': 'GC11M124844', 'score': 0.44}, {'connected_gene': 'GC11M124812', 'score': 0.34}]
chr11 GH11I124717 124717269 124718600 1.29 [{'connected_gene': 'SPA17', 'score': 21.24}, {'connected_gene': 'ESAM', 'score': 15.22}, {'connected_gene': 'NRGN', 'score': 14.11}, {'connected_gene': 'ENSG00000255045', 'score': 12.22}, {'connected_gene': 'VSIG2', 'score': 12.19}, {'connected_gene': 'SIAE', 'score': 12.18}, {'connected_gene': 'LOC101929340', 'score': 12.17}, {'connected_gene': 'ROBO3', 'score': 9.39}, {'connected_gene': 'ROBO4', 'score': 1.67}, {'connected_gene': 'GC11P124740', 'score': 0.34}]
chr11 GH11I124768 124768953 124772270 0.88 [{'connected_gene': 'NRGN', 'score': 12.52}, {'connected_gene': 'SIAE', 'score': 11.69}, {'connected_gene': 'SPA17', 'score': 11.65}, {'connected_gene': 'LOC100507283', 'score': 11.23}, {'connected_gene': 'MSANTD2', 'score': 11.21}, {'connected_gene': 'ROBO3', 'score': 10.13}, {'connected_gene': 'VSIG2', 'score': 5.88}, {'connected_gene': 'ESAM', 'score': 0.44}, {'connected_gene': 'ENSG00000254509', 'score': 0.34}]
chr11 GH11I124752 124752801 124753200 0.69 [{'connected_gene': 'VSIG2', 'score': 550.77}, {'connected_gene': 'ESAM', 'score': 0.44}, {'connected_gene': 'ENSG00000255045', 'score': 0.44}]
chr11 GH11I124777 124777305 124777454 0.2 [{'connected_gene': 'ENSG00000254509', 'score': 0.39}, {'connected_gene': 'ESAM', 'score': 0.37}, {'connected_gene': 'MSANTD2', 'score': 0.34}]
chr11 GH11I124793 124793785 124793934 0.64 [{'connected_gene': 'ENSG00000279342', 'score': 550.77}, {'connected_gene': 'ESAM', 'score': 11.72}, {'connected_gene': 'LOC101929340', 'score': 11.72}, {'connected_gene': 'VSIG2', 'score': 11.68}, {'connected_gene': 'ENSG00000255045', 'score': 11.67}, {'connected_gene': 'SIAE', 'score': 11.44}, {'connected_gene': 'SPA17', 'score': 11.42}, {'connected_gene': 'NRGN', 'score': 10.61}, {'connected_gene': 'ROBO3', 'score': 9.96}, {'connected_gene': 'LOC100507283', 'score': 6.07}, {'connected_gene': 'MSANTD2', 'score': 0.44}]