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
ENST00000498634 [[46688738, 46688966], [46690567, 46690841]] [[46688854, 46688966], [46690567, 46690841]]
ENST00000239144 [[46689707, 46690871], [46691642, 46692301]] [[46690563, 46690871], [46691642, 46692066]]
ENST00000576562 [[46690549, 46690868], [46691642, 46692066]] [[46690563, 46690868], [46691642, 46692066]]
ENST00000468443 [[46691968, 46692114], [46692417, 46692478]] [[46691968, 46692066]]
NM_024016 [[46689707, 46690871], [46691642, 46692301]] [[46690563, 46690871], [46691642, 46692066]]
Promoter
Chrom Start End Description
chr17 46690839 46690884 CAGE_peak_1_at_HOXB8_5end
chr17 46691732 46691766 CAGE_peak_4_at_HOXB8_5end
chr17 46691990 46692004 CAGE_peak_11_at_HOXB8_5end
chr17 46692198 46692237 CAGE_peak_12_at_HOXB8_5end
chr17 46692287 46692317 CAGE_peak_7_at_HOXB8_5end
chr17 46692318 46692362 CAGE_peak_5_at_HOXB8_5end
chr17 46692457 46692484 CAGE_peak_2_at_HOXB8_5end
chr17 46692582 46692589 CAGE_peak_14_at_HOXB8_5end
chr17 46692603 46692621 CAGE_peak_6_at_HOXB8_5end
chr17 46692624 46692659 CAGE_peak_3_at_HOXB8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I048623 48623432 48629868 2 [{'connected_gene': 'HOXB9', 'score': 560.38}, {'connected_gene': 'ENSG00000264701', 'score': 12.73}, {'connected_gene': 'ENSG00000230532', 'score': 11.87}, {'connected_gene': 'CDK5RAP3', 'score': 11.03}, {'connected_gene': 'PRAC2', 'score': 9.56}, {'connected_gene': 'PRAC1', 'score': 9.56}, {'connected_gene': 'HOXB13', 'score': 9.52}, {'connected_gene': 'LOC105371811', 'score': 9.51}, {'connected_gene': 'HOXB2', 'score': 8.9}, {'connected_gene': 'HOXB8', 'score': 4.92}, {'connected_gene': 'HOXB5', 'score': 2.52}, {'connected_gene': 'HOXB6', 'score': 2.51}, {'connected_gene': 'HOXB7', 'score': 2.2}, {'connected_gene': 'HOXB3', 'score': 1.57}, {'connected_gene': 'SNF8', 'score': 1.23}, {'connected_gene': 'PIR60728', 'score': 0.77}, {'connected_gene': 'HOXB-AS4', 'score': 0.77}]
chr17 GH17I048608 48608458 48618490 2.23 [{'connected_gene': 'HOXB8', 'score': 550.77}, {'connected_gene': 'PIR62254', 'score': 550.77}, {'connected_gene': 'HOXB7', 'score': 550.34}, {'connected_gene': 'ENSG00000263412', 'score': 20.94}, {'connected_gene': 'HOXB2', 'score': 14.82}, {'connected_gene': 'SUMO2P17', 'score': 11.94}, {'connected_gene': 'SNX11', 'score': 6.26}, {'connected_gene': 'HOXB9', 'score': 5.79}, {'connected_gene': 'CALCOCO2', 'score': 4.4}, {'connected_gene': 'SCRN2', 'score': 4.27}, {'connected_gene': 'UBE2Z', 'score': 4.24}, {'connected_gene': 'PIR55100', 'score': 0.77}]
chr17 GH17I048538 48538779 48607552 3.02 [{'connected_gene': 'HOXB2', 'score': 589.8}, {'connected_gene': 'HOXB3', 'score': 564.5}, {'connected_gene': 'HOXB6', 'score': 558.14}, {'connected_gene': 'HOXB4', 'score': 557.76}, {'connected_gene': 'HOXB5', 'score': 554.58}, {'connected_gene': 'PIR47329', 'score': 550.77}, {'connected_gene': 'PIR34300', 'score': 550.77}, {'connected_gene': 'UBE2Z', 'score': 44.27}, {'connected_gene': 'SP2', 'score': 41.54}, {'connected_gene': 'ENSG00000264701', 'score': 40.36}, {'connected_gene': 'CDK5RAP3', 'score': 33.27}, {'connected_gene': 'ENSG00000263412', 'score': 20.95}, {'connected_gene': 'KPNB1', 'score': 18.05}, {'connected_gene': 'SKAP1', 'score': 16.34}, {'connected_gene': 'HOXB9', 'score': 14.67}, {'connected_gene': 'HOXB-AS1', 'score': 12.33}, {'connected_gene': 'HOXB-AS3', 'score': 12.19}, {'connected_gene': 'SUMO2P17', 'score': 11.94}, {'connected_gene': 'LRRC46', 'score': 11.47}, {'connected_gene': 'HOXB-AS4', 'score': 11.23}, {'connected_gene': 'HOXB1', 'score': 11.1}, {'connected_gene': 'HOXB-AS2', 'score': 10.87}, {'connected_gene': 'ENSG00000266601', 'score': 10.36}, {'connected_gene': 'EGID-105371807', 'score': 9.93}, {'connected_gene': 'MIR1203', 'score': 8.92}, {'connected_gene': 'LOC102724532', 'score': 5.52}, {'connected_gene': 'SCRN2', 'score': 5.29}, {'connected_gene': 'SNX11', 'score': 5.16}, {'connected_gene': 'B4GALNT2', 'score': 5.12}, {'connected_gene': 'TTLL6', 'score': 5.04}, {'connected_gene': 'SP6', 'score': 4.62}, {'connected_gene': 'HOXB7', 'score': 4.39}, {'connected_gene': 'HOXB8', 'score': 4.28}, {'connected_gene': 'ENSG00000266821', 'score': 4.07}, {'connected_gene': 'GC17M048578', 'score': 0.77}, {'connected_gene': 'PIR40370', 'score': 0.77}, {'connected_gene': 'PIR53857', 'score': 0.77}, {'connected_gene': 'MIR10A', 'score': 0.44}, {'connected_gene': 'ENSG00000257178', 'score': 0.44}, {'connected_gene': 'PIR56911', 'score': 0.39}, {'connected_gene': 'PIR32705', 'score': 0.39}, {'connected_gene': 'GC17P048587', 'score': 0.39}, {'connected_gene': 'PIR40529', 'score': 0.39}, {'connected_gene': 'PIR49991', 'score': 0.37}, {'connected_gene': 'GC17P048589', 'score': 0.37}, {'connected_gene': 'PIR40384', 'score': 0.34}, {'connected_gene': 'PIR55455', 'score': 0.34}, {'connected_gene': 'PIR58858', 'score': 0.34}, {'connected_gene': 'PIR58910', 'score': 0.34}, {'connected_gene': 'GC17M048596', 'score': 0.34}, {'connected_gene': 'GC17M048544', 'score': 0.31}]