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
ENST00000239165 [[46684593, 46685457], [46687880, 46688379]] [[46685203, 46685457], [46687880, 46688280]]
ENST00000567101 [[46684988, 46685457], [46710875, 46710934]] None
ENST00000467314 [[46685077, 46685457], [46685590, 46685688]] None
NM_004502 [[46684593, 46685457], [46687880, 46688383]] [[46685203, 46685457], [46687880, 46688280]]
Promoter
Chrom Start End Description
chr17 46687935 46687950 CAGE_peak_3_at_HOXB7_5end
chr17 46687959 46688007 CAGE_peak_2_at_HOXB7_5end
chr17 46688310 46688323 CAGE_peak_4_at_HOXB7_5end
chr17 46688334 46688385 CAGE_peak_1_at_HOXB7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I048618 48618870 48620168 1.2 [{'connected_gene': 'CDK5RAP3', 'score': 21.67}, {'connected_gene': 'ENSG00000264701', 'score': 12.73}, {'connected_gene': 'SUMO2P17', 'score': 11.94}, {'connected_gene': 'HOXB2', 'score': 5.7}, {'connected_gene': 'PIR56021', 'score': 0.77}, {'connected_gene': 'PIR55100', 'score': 0.77}, {'connected_gene': 'HOXB9', 'score': 0.44}, {'connected_gene': 'HOXB7', 'score': 0.39}]
chr17 GH17I048631 48631139 48631288 1.13 [{'connected_gene': 'MIR196A1', 'score': 550.77}, {'connected_gene': 'UBE2Z', 'score': 15.42}, {'connected_gene': 'SP2', 'score': 10.92}, {'connected_gene': 'CDK5RAP3', 'score': 4.6}, {'connected_gene': 'HOXB-AS4', 'score': 0.77}, {'connected_gene': 'HOXB7', 'score': 0.77}]
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 GH17I048634 48634354 48635179 0.59 [{'connected_gene': 'HOXB7', 'score': 550.77}, {'connected_gene': 'HOXB2', 'score': 11.34}, {'connected_gene': 'LINC02086', 'score': 0.44}, {'connected_gene': 'HOXB-AS4', 'score': 0.44}, {'connected_gene': 'LOC101060400', 'score': 0.39}]
chr17 GH17I048636 48636579 48636768 1.11 [{'connected_gene': 'HOXB7', 'score': 0.77}, {'connected_gene': 'LINC02086', 'score': 0.44}, {'connected_gene': 'LOC101060400', 'score': 0.39}]
chr17 GH17I048639 48639668 48640853 0.49 [{'connected_gene': 'HOXB2', 'score': 6.36}, {'connected_gene': 'CDK5RAP3', 'score': 4.22}, {'connected_gene': 'LINC02086', 'score': 0.77}, {'connected_gene': 'LOC101060400', 'score': 0.44}, {'connected_gene': 'HOXB7', 'score': 0.44}]
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}]
chr17 GH17I048619 48618639 48618848 1.09 [{'connected_gene': 'PIR56021', 'score': 0.77}, {'connected_gene': 'PIR55100', 'score': 0.77}, {'connected_gene': 'HOXB9', 'score': 0.44}, {'connected_gene': 'HOXB7', 'score': 0.39}]
chr17 GH17I048620 48620594 48621049 0.94 [{'connected_gene': 'PIR56021', 'score': 550.77}, {'connected_gene': 'HOXB9', 'score': 7.15}, {'connected_gene': 'PIR55100', 'score': 0.44}, {'connected_gene': 'HOXB7', 'score': 0.39}]