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
NM_001244752 [[33524410, 33524693], [33528724, 33528839], [33528997, 33529171], [33533436, 33533543], [33534367, 33534505], [33536875, 33536943], [33541144, 33541225], [33543182, 33543253], [33547935, 33548853], [33550427, 33550577], [33555705, 33555818], [33558055, 33558185], [33566216, 33566498], [33567100, 33567312], [33568668, 33568891], [33572313, 33573001]] [[33524487, 33524693], [33528724, 33528839], [33528997, 33529171], [33533436, 33533543], [33534367, 33534505], [33536875, 33536943], [33541144, 33541225], [33543182, 33543253], [33547935, 33548853], [33550427, 33550577], [33555705, 33555818], [33558055, 33558185], [33566216, 33566498], [33567100, 33567312], [33568668, 33568891], [33572313, 33572358]]
Promoter
Chrom Start End Description
chr9 33524240 33524258 CAGE_peak_1_at_ANKRD18B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I033472 33472114 33475000 2.26 [{'connected_gene': 'NOL6', 'score': 662.79}, {'connected_gene': 'NFX1', 'score': 135.98}, {'connected_gene': 'TOPORS', 'score': 135.28}, {'connected_gene': 'ASS1P12', 'score': 111.06}, {'connected_gene': 'SMU1', 'score': 109.34}, {'connected_gene': 'TCEA1P4', 'score': 90.52}, {'connected_gene': 'ENSG00000228352', 'score': 67.23}, {'connected_gene': 'DFFBP1', 'score': 63.58}, {'connected_gene': 'ENSG00000223440', 'score': 55.62}, {'connected_gene': 'UBAP2', 'score': 47.15}, {'connected_gene': 'SUGT1P1', 'score': 25.61}, {'connected_gene': 'LAGE3P1', 'score': 20.95}, {'connected_gene': 'APTX', 'score': 18.57}, {'connected_gene': 'DDX58', 'score': 11.89}, {'connected_gene': 'ANKRD18B', 'score': 10.54}, {'connected_gene': 'ENSG00000260947', 'score': 10.38}, {'connected_gene': 'B4GALT1', 'score': 10.06}, {'connected_gene': 'CHMP5', 'score': 9.96}, {'connected_gene': 'AQP7', 'score': 5.31}, {'connected_gene': 'MIR6851', 'score': 0.44}]
chr9 GH09I033505 33505947 33508272 0.98 [{'connected_gene': 'NOL6', 'score': 19.17}, {'connected_gene': 'AQP3', 'score': 10.52}, {'connected_gene': 'ANKRD18B', 'score': 9.39}, {'connected_gene': 'SUGT1P1', 'score': 0.77}, {'connected_gene': 'PIR50034', 'score': 0.77}]
chr9 GH09I033523 33523257 33525201 1.9 [{'connected_gene': 'ANKRD18B', 'score': 562.74}, {'connected_gene': 'PIR41298', 'score': 550.77}, {'connected_gene': 'GC09P033525', 'score': 550.77}, {'connected_gene': 'AQP3', 'score': 12.17}, {'connected_gene': 'NOL6', 'score': 11.03}, {'connected_gene': 'APTX', 'score': 10.3}, {'connected_gene': 'CYP4F26P', 'score': 9.53}, {'connected_gene': 'ENSG00000228072', 'score': 0.44}]
chr9 GH09I033510 33510081 33512024 1.42 [{'connected_gene': 'SUGT1P1', 'score': 550.77}, {'connected_gene': 'VN1R47P', 'score': 550.77}, {'connected_gene': 'PIR50034', 'score': 550.77}, {'connected_gene': 'ANKRD18B', 'score': 12.51}, {'connected_gene': 'PRSS3', 'score': 5.63}]
chr9 GH09I033518 33518283 33518432 0.46 [{'connected_gene': 'AQP3', 'score': 5.69}, {'connected_gene': 'ENSG00000228072', 'score': 0.77}, {'connected_gene': 'ANKRD18B', 'score': 0.44}]
chr9 GH09I033461 33461554 33462665 0.38 [{'connected_gene': 'AQP3', 'score': 13.84}, {'connected_gene': 'AQP7', 'score': 11.59}, {'connected_gene': 'LOC105376020', 'score': 11.57}, {'connected_gene': 'BAG1', 'score': 9.69}, {'connected_gene': 'CHMP5', 'score': 9.69}, {'connected_gene': 'ANKRD18B', 'score': 9.11}, {'connected_gene': 'CYP4F26P', 'score': 4.57}, {'connected_gene': 'GC09P033453', 'score': 0.44}, {'connected_gene': 'MIR6851', 'score': 0.44}, {'connected_gene': 'NOL6', 'score': 0.39}]
chr9 GH09I033517 33517600 33517800 0.59 [{'connected_gene': 'CYP4F26P', 'score': 10.8}, {'connected_gene': 'AQP3', 'score': 5.82}, {'connected_gene': 'ENSG00000228072', 'score': 0.77}, {'connected_gene': 'ANKRD18B', 'score': 0.44}]
chr9 GH09I033526 33526001 33526200 0.31 [{'connected_gene': 'PIR41298', 'score': 550.77}, {'connected_gene': 'ANKRD18B', 'score': 550.77}, {'connected_gene': 'GC09P033525', 'score': 550.77}, {'connected_gene': 'PIR60351', 'score': 0.34}]
chr9 GH09I033452 33452423 33454974 1.25 [{'connected_gene': 'GC09P033453', 'score': 550.77}, {'connected_gene': 'AQP3', 'score': 14.64}, {'connected_gene': 'NOL6', 'score': 12.76}, {'connected_gene': 'ANKRD18B', 'score': 8.94}, {'connected_gene': 'CYP4F26P', 'score': 5.95}, {'connected_gene': 'PTENP1', 'score': 5.26}, {'connected_gene': 'MIR6851', 'score': 0.39}]