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
ENST00000221972 [[42381189, 42381453], [42383059, 42383359], [42383604, 42383723], [42384736, 42384805], [42384933, 42385439]] [[42381374, 42381453], [42383059, 42383359], [42383604, 42383723], [42384736, 42384805], [42384933, 42385047]]
ENST00000597454 [[42381349, 42381453], [42383059, 42383723], [42384736, 42384769]] [[42381374, 42381453], [42383059, 42383723], [42384736, 42384769]]
ENST00000444740 [[42381374, 42381453], [42383059, 42383245], [42383604, 42383723], [42384736, 42384805], [42384933, 42385047]] [[42381374, 42381453], [42383059, 42383245], [42383604, 42383723], [42384736, 42384805], [42384933, 42385047]]
NM_021601 [[42381189, 42381453], [42383059, 42383245], [42383604, 42383723], [42384736, 42384805], [42384933, 42385439]] [[42381374, 42381453], [42383059, 42383245], [42383604, 42383723], [42384736, 42384805], [42384933, 42385047]]
NM_001783 [[42381189, 42381453], [42383059, 42383359], [42383604, 42383723], [42384736, 42384805], [42384933, 42385439]] [[42381374, 42381453], [42383059, 42383359], [42383604, 42383723], [42384736, 42384805], [42384933, 42385047]]
Promoter
Chrom Start End Description
chr19 42381173 42381198 CAGE_peak_2_at_CD79A_5end
chr19 42381337 42381360 CAGE_peak_1_at_CD79A_5end
chr19 42384711 42384739 CAGE_peak_3_at_CD79A_5end
chr19 42384740 42384753 CAGE_peak_5_at_CD79A_5end
chr19 42384975 42384986 CAGE_peak_4_at_CD79A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I041867 41867766 41880062 2.18 [{'connected_gene': 'CD79A', 'score': 567.72}, {'connected_gene': 'ARHGEF1', 'score': 24.51}, {'connected_gene': 'ZNF526', 'score': 22.27}, {'connected_gene': 'HNRNPUL1', 'score': 18.27}, {'connected_gene': 'CCDC97', 'score': 14.25}, {'connected_gene': 'RABAC1', 'score': 13.3}, {'connected_gene': 'ZNF574', 'score': 10.73}, {'connected_gene': 'POU2F2', 'score': 5.49}, {'connected_gene': 'DEDD2', 'score': 3.47}, {'connected_gene': 'CEACAM4', 'score': 2.44}, {'connected_gene': 'CEACAM21', 'score': 1.72}, {'connected_gene': 'CEACAM3', 'score': 1.54}, {'connected_gene': 'MIR6797', 'score': 0.77}, {'connected_gene': 'RPS19', 'score': 0.39}]
chr19 GH19I042301 42301536 42303848 2.08 [{'connected_gene': 'PAFAH1B3', 'score': 550.77}, {'connected_gene': 'PRR19', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 70.81}, {'connected_gene': 'CCDC97', 'score': 36.85}, {'connected_gene': 'ZNF574', 'score': 22.61}, {'connected_gene': 'RPS19', 'score': 18.83}, {'connected_gene': 'ERF', 'score': 10.53}, {'connected_gene': 'MEGF8', 'score': 4.94}, {'connected_gene': 'CD79A', 'score': 4.92}]
chr19 GH19I041951 41951600 41952001 1.15 [{'connected_gene': 'ZNF526', 'score': 12.82}, {'connected_gene': 'HNRNPUL1', 'score': 12.79}, {'connected_gene': 'CD79A', 'score': 12.23}, {'connected_gene': 'RPS19', 'score': 11.98}, {'connected_gene': 'ATP1A3', 'score': 11.26}, {'connected_gene': 'RABAC1', 'score': 9.76}, {'connected_gene': 'LOC100505585', 'score': 0.34}]
chr19 GH19I041937 41937573 41941866 1.4 [{'connected_gene': 'RABAC1', 'score': 31.76}, {'connected_gene': 'CD79A', 'score': 13.6}, {'connected_gene': 'ARHGEF1', 'score': 3.87}, {'connected_gene': 'POU2F2', 'score': 2.99}, {'connected_gene': 'LOC100505585', 'score': 0.39}]
chr19 GH19I041957 41957194 41960075 2.27 [{'connected_gene': 'RABAC1', 'score': 581.59}, {'connected_gene': 'ZNF526', 'score': 76.06}, {'connected_gene': 'HNRNPUL1', 'score': 54.68}, {'connected_gene': 'CCDC97', 'score': 35.89}, {'connected_gene': 'ZNF574', 'score': 32.05}, {'connected_gene': 'RPS19', 'score': 21.65}, {'connected_gene': 'MEGF8', 'score': 14.39}, {'connected_gene': 'CD79A', 'score': 12.22}, {'connected_gene': 'ATP1A3', 'score': 11.29}, {'connected_gene': 'ERF', 'score': 10.34}, {'connected_gene': 'TMEM145', 'score': 9.91}, {'connected_gene': 'LOC100505585', 'score': 0.31}]
chr19 GH19I041545 41545276 41547353 1.24 [{'connected_gene': 'GC19M041536', 'score': 550.77}, {'connected_gene': 'ENSG00000268027', 'score': 550.77}, {'connected_gene': 'DMAC2', 'score': 11.91}, {'connected_gene': 'ERICH4', 'score': 11.91}, {'connected_gene': 'LINC01480', 'score': 7.93}, {'connected_gene': 'ENSG00000268355', 'score': 7.66}, {'connected_gene': 'EXOSC5', 'score': 4.96}, {'connected_gene': 'PCAT19', 'score': 4.9}, {'connected_gene': 'CEACAM21', 'score': 2.75}, {'connected_gene': 'ARHGEF1', 'score': 2.14}, {'connected_gene': 'CD79A', 'score': 1.89}, {'connected_gene': 'B9D2', 'score': 1.86}, {'connected_gene': 'HNRNPUL1', 'score': 1.5}, {'connected_gene': 'CCDC97', 'score': 1.27}]