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
ENST00000375071 [[20915440, 20915776], [20931420, 20931532], [20940334, 20940392], [20944944, 20945401]] [[20915622, 20915776], [20931420, 20931532], [20940334, 20940392], [20944944, 20945061]]
ENST00000461985 [[20915578, 20915776], [20931420, 20931532], [20944944, 20945396]] None
NM_001785 [[20915443, 20915776], [20931420, 20931532], [20940334, 20940392], [20944944, 20945401]] [[20915622, 20915776], [20931420, 20931532], [20940334, 20940392], [20944944, 20945061]]
Promoter
Chrom Start End Description
chr1 20915390 20915406 CAGE_peak_3_at_CDA_5end
chr1 20915409 20915492 CAGE_peak_2_at_CDA_5end
chr1 20915530 20915635 CAGE_peak_1_at_CDA_5end
chr1 20915737 20915741 CAGE_peak_4_at_CDA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I020587 20587400 20588001 1.16 [{'connected_gene': 'CDA', 'score': 555.09}, {'connected_gene': 'MUL1', 'score': 4.89}, {'connected_gene': 'FAM43B', 'score': 0.28}]
chr1 GH01I020624 20624464 20626889 0.54 [{'connected_gene': 'CDA', 'score': 22.73}, {'connected_gene': 'PINK1', 'score': 5.43}, {'connected_gene': 'CAMK2N1', 'score': 5.08}, {'connected_gene': 'GC01P020619', 'score': 0.44}]
chr1 GH01I020601 20601201 20605429 1.42 [{'connected_gene': 'CDA', 'score': 26.94}, {'connected_gene': 'PINK1', 'score': 13.09}, {'connected_gene': 'HP1BP3', 'score': 11.28}, {'connected_gene': 'DDOST', 'score': 10.01}, {'connected_gene': 'GC01P020619', 'score': 0.37}]
chr1 GH01I020588 20588261 20591800 1.75 [{'connected_gene': 'CDA', 'score': 577.98}, {'connected_gene': 'PINK1', 'score': 17.89}, {'connected_gene': 'FAM43B', 'score': 11.22}, {'connected_gene': 'MUL1', 'score': 9.99}, {'connected_gene': 'GC01P020619', 'score': 0.31}]
chr1 GH01I020596 20596601 20598400 0.65 [{'connected_gene': 'CDA', 'score': 27.7}, {'connected_gene': 'GC01P020619', 'score': 0.34}]
chr1 GH01I020616 20616401 20616800 0.51 [{'connected_gene': 'CDA', 'score': 13.14}, {'connected_gene': 'GC01P020619', 'score': 0.77}]
chr1 GH01I019591 19591509 19592435 0.63 [{'connected_gene': 'AKR7A2', 'score': 6.53}, {'connected_gene': 'CDA', 'score': 5.09}, {'connected_gene': 'GC01P019599', 'score': 0.77}, {'connected_gene': 'LOC105378614', 'score': 0.77}, {'connected_gene': 'LOC105376817', 'score': 0.21}]
chr1 GH01I020575 20575348 20575517 1.13 [{'connected_gene': 'PINK1', 'score': 12.29}, {'connected_gene': 'CDA', 'score': 11.8}, {'connected_gene': 'MUL1', 'score': 10.73}, {'connected_gene': 'FAM43B', 'score': 0.34}]
chr1 GH01I020610 20610902 20615067 1.32 [{'connected_gene': 'PINK1', 'score': 37.46}, {'connected_gene': 'CDA', 'score': 34.21}, {'connected_gene': 'OTUD3', 'score': 13.3}, {'connected_gene': 'FAM43B', 'score': 11.41}, {'connected_gene': 'DDOST', 'score': 5.15}, {'connected_gene': 'GC01P020619', 'score': 0.44}]
chr1 GH01I020609 20609452 20610297 0.2 [{'connected_gene': 'PINK1', 'score': 36.31}, {'connected_gene': 'CDA', 'score': 33.76}, {'connected_gene': 'FAM43B', 'score': 11.42}, {'connected_gene': 'GC01P020619', 'score': 0.44}]
chr1 GH01I020605 20605549 20607816 0.54 [{'connected_gene': 'PINK1', 'score': 23.18}, {'connected_gene': 'CDA', 'score': 22.53}, {'connected_gene': 'GC01P020619', 'score': 0.39}]
chr1 GH01I020576 20576448 20576597 0.31 [{'connected_gene': 'PINK1', 'score': 12.29}, {'connected_gene': 'MUL1', 'score': 10.73}, {'connected_gene': 'CDA', 'score': 0.39}, {'connected_gene': 'FAM43B', 'score': 0.34}]
chr1 GH01I020678 20678601 20679200 0.69 [{'connected_gene': 'PINK1', 'score': 11.41}, {'connected_gene': 'SH2D5', 'score': 11.12}, {'connected_gene': 'ENSG00000233069', 'score': 11.12}, {'connected_gene': 'CDA', 'score': 9.63}, {'connected_gene': 'MUL1', 'score': 6.22}, {'connected_gene': 'DDOST', 'score': 0.37}, {'connected_gene': 'ENSG00000235432', 'score': 0.37}, {'connected_gene': 'KIF17', 'score': 0.28}]
chr1 GH01I020632 20632788 20635240 2.01 [{'connected_gene': 'PINK1', 'score': 580.42}, {'connected_gene': 'MIR6084', 'score': 550.77}, {'connected_gene': 'CDA', 'score': 22.76}, {'connected_gene': 'PIR40855', 'score': 0.77}]
chr1 GH01I020555 20555485 20555737 0.33 [{'connected_gene': 'CAMK2N1', 'score': 2.31}, {'connected_gene': 'VWA5B1', 'score': 1.6}, {'connected_gene': 'FAM43B', 'score': 0.77}, {'connected_gene': 'CDA', 'score': 0.29}]
chr1 GH01I019622 19622475 19624369 0.83 [{'connected_gene': 'MINOS1', 'score': 13.14}, {'connected_gene': 'LOC105378614', 'score': 13.14}, {'connected_gene': 'RNU4-28P', 'score': 10.27}, {'connected_gene': 'CDA', 'score': 5.29}, {'connected_gene': 'AKR7A2', 'score': 4.92}, {'connected_gene': 'NBL1', 'score': 0.37}, {'connected_gene': 'RPS14P3', 'score': 0.37}, {'connected_gene': 'MINOS1-NBL1', 'score': 0.31}]
chr1 GH01I019623 19621069 19622456 0.2 [{'connected_gene': 'MINOS1', 'score': 13.17}, {'connected_gene': 'LOC105378614', 'score': 13.17}, {'connected_gene': 'RNU4-28P', 'score': 10.27}, {'connected_gene': 'NBL1', 'score': 6.22}, {'connected_gene': 'CDA', 'score': 5.3}, {'connected_gene': 'RPS14P3', 'score': 0.39}, {'connected_gene': 'MINOS1-NBL1', 'score': 0.34}]
chr1 GH01I020551 20551307 20554864 1.55 [{'connected_gene': 'FAM43B', 'score': 560.08}, {'connected_gene': 'GC01P020552', 'score': 550.77}, {'connected_gene': 'PIR52351', 'score': 550.77}, {'connected_gene': 'MUL1', 'score': 7.01}, {'connected_gene': 'CDA', 'score': 0.28}]
chr1 GH01I020578 20578740 20579733 0.2 [{'connected_gene': 'FAM43B', 'score': 11.24}, {'connected_gene': 'CAMK2N1', 'score': 9.78}, {'connected_gene': 'DDOST', 'score': 6.62}, {'connected_gene': 'CDA', 'score': 0.44}]
chr1 GH01I021020 21020823 21023464 1.59 [{'connected_gene': 'GC01P021023', 'score': 550.77}, {'connected_gene': 'HP1BP3', 'score': 12.46}, {'connected_gene': 'MIR1256', 'score': 12.37}, {'connected_gene': 'EIF4G3', 'score': 6.5}, {'connected_gene': 'ECE1', 'score': 4.49}, {'connected_gene': 'CDA', 'score': 1.44}, {'connected_gene': 'RPS15AP6', 'score': 0.37}]