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
ENST00000570754 [[54869273, 54869713], [54872404, 54872653]] None
ENST00000397861 [[54869273, 54869713], [54872404, 54872541], [54892229, 54892330], [54893116, 54893371], [54902099, 54902214], [54902441, 54902682], [54910258, 54910703], [54910978, 54911257]] [[54872424, 54872541], [54892229, 54892330], [54893116, 54893171]]
ENST00000397862 [[54869274, 54869713], [54872404, 54872541], [54892229, 54892330], [54893116, 54893250]] [[54872424, 54872541], [54892229, 54892330], [54893116, 54893243]]
ENST00000575658 [[54869274, 54869713], [54872404, 54872541], [54892229, 54892330], [54893116, 54893371], [54902099, 54902214], [54902441, 54902682], [54910258, 54910703], [54910978, 54911256]] [[54872424, 54872541], [54892229, 54892330], [54893116, 54893243]]
ENST00000487705 [[54902107, 54902214], [54902441, 54902682], [54915849, 54916134]] None
NM_001085430 [[54869273, 54869713], [54872404, 54872541], [54892229, 54892330], [54893116, 54893371], [54902099, 54902214], [54902441, 54902682], [54910258, 54910703], [54910978, 54911256]] [[54872424, 54872541], [54892229, 54892330], [54893116, 54893171]]
Promoter
Chrom Start End Description
chr17 54893192 54893195 CAGE_peak_14_at_C17orf67_5end
chr17 54893196 54893207 CAGE_peak_9_at_C17orf67_5end
chr17 54893213 54893220 CAGE_peak_12_at_C17orf67_5end
chr17 54893269 54893278 CAGE_peak_11_at_C17orf67_5end
chr17 54893292 54893300 CAGE_peak_13_at_C17orf67_5end
chr17 54893310 54893315 CAGE_peak_15_at_C17orf67_5end
chr17 54911161 54911244 CAGE_peak_1_at_C17orf67_5end
chr17 54911250 54911288 CAGE_peak_2_at_C17orf67_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I056779 56779124 56782145 1.37 [{'connected_gene': 'NOG', 'score': 11.06}, {'connected_gene': 'C17orf67', 'score': 6.53}, {'connected_gene': 'GC17M056765', 'score': 0.39}, {'connected_gene': 'GC17M056800', 'score': 0.34}, {'connected_gene': 'GC17M056657', 'score': 0.15}]
chr17 GH17I056822 56822280 56823143 0.85 [{'connected_gene': 'DGKE', 'score': 8.27}, {'connected_gene': 'C17orf67', 'score': 6.94}, {'connected_gene': 'PIR41486', 'score': 0.39}, {'connected_gene': 'ENSG00000283209', 'score': 0.37}, {'connected_gene': 'GC17M056820', 'score': 0.26}, {'connected_gene': 'GC17M056657', 'score': 0.23}]
chr17 GH17I056832 56832373 56835649 2.04 [{'connected_gene': 'DGKE', 'score': 568.88}, {'connected_gene': 'C17orf67', 'score': 557.4}, {'connected_gene': 'PIR41486', 'score': 550.77}, {'connected_gene': 'GC17M056820', 'score': 0.29}, {'connected_gene': 'GC17M056657', 'score': 0.26}]
chr17 GH17I056798 56798978 56799169 1.06 [{'connected_gene': 'DGKE', 'score': 1.66}, {'connected_gene': 'GC17M056800', 'score': 0.77}, {'connected_gene': 'GC17M056765', 'score': 0.29}, {'connected_gene': 'C17orf67', 'score': 0.28}, {'connected_gene': 'GC17M056657', 'score': 0.18}]
chr17 GH17I056893 56893385 56894343 0.43 [{'connected_gene': 'TRIM25', 'score': 12.58}, {'connected_gene': 'C17orf67', 'score': 10.93}, {'connected_gene': 'MIR3614', 'score': 0.77}]
chr17 GH17I056819 56819601 56820199 1.29 [{'connected_gene': 'TRIM25', 'score': 11.99}, {'connected_gene': 'PIR41486', 'score': 0.39}, {'connected_gene': 'C17orf67', 'score': 0.37}, {'connected_gene': 'ENSG00000283209', 'score': 0.37}, {'connected_gene': 'GC17M056657', 'score': 0.22}]
chr17 GH17I056784 56784747 56788329 1.6 [{'connected_gene': 'C17orf67', 'score': 17.08}, {'connected_gene': 'NOG', 'score': 10.97}, {'connected_gene': 'TRIM25', 'score': 8.71}, {'connected_gene': 'SCPEP1', 'score': 6.4}, {'connected_gene': 'GC17M056800', 'score': 0.37}, {'connected_gene': 'GC17M056765', 'score': 0.37}, {'connected_gene': 'GC17M056657', 'score': 0.17}]
chr17 GH17I056808 56808029 56809493 0.9 [{'connected_gene': 'C17orf67', 'score': 17.12}, {'connected_gene': 'ENSG00000262298', 'score': 13.15}, {'connected_gene': 'DGKE', 'score': 12.67}, {'connected_gene': 'RNU6-1158P', 'score': 10.86}, {'connected_gene': 'ENSG00000283209', 'score': 0.77}, {'connected_gene': 'PIR41486', 'score': 0.31}, {'connected_gene': 'GC17M056657', 'score': 0.2}]
chr17 GH17I056836 56836601 56837200 0.31 [{'connected_gene': 'C17orf67', 'score': 550.77}, {'connected_gene': 'DGKE', 'score': 0.77}, {'connected_gene': 'GC17M056820', 'score': 0.31}, {'connected_gene': 'GC17M056657', 'score': 0.28}]
chr17 GH17I056934 56934360 56934509 0.38 [{'connected_gene': 'C17orf67', 'score': 11.47}, {'connected_gene': 'SCPEP1', 'score': 10.95}, {'connected_gene': 'ENSG00000262298', 'score': 0.44}, {'connected_gene': 'ENSG00000274213', 'score': 0.34}]
chr17 GH17I056937 56937089 56937321 0.49 [{'connected_gene': 'C17orf67', 'score': 11.47}, {'connected_gene': 'SCPEP1', 'score': 10.95}, {'connected_gene': 'ENSG00000262298', 'score': 0.77}, {'connected_gene': 'ENSG00000274213', 'score': 0.34}]
chr17 GH17I056938 56937720 56937869 0.71 [{'connected_gene': 'C17orf67', 'score': 11.47}, {'connected_gene': 'SCPEP1', 'score': 10.95}, {'connected_gene': 'ENSG00000262298', 'score': 0.77}, {'connected_gene': 'ENSG00000274213', 'score': 0.34}]
chr17 GH17I056806 56806554 56807366 0.43 [{'connected_gene': 'C17orf67', 'score': 17.12}, {'connected_gene': 'RNU6-1158P', 'score': 10.86}, {'connected_gene': 'ENSG00000283209', 'score': 0.77}, {'connected_gene': 'PIR41486', 'score': 0.31}, {'connected_gene': 'GC17M056657', 'score': 0.2}]
chr17 GH17I056813 56813473 56813681 0.57 [{'connected_gene': 'C17orf67', 'score': 11.29}, {'connected_gene': 'ENSG00000283209', 'score': 0.44}, {'connected_gene': 'PIR41486', 'score': 0.34}, {'connected_gene': 'GC17M056657', 'score': 0.21}]
chr17 GH17I056793 56793703 56795470 0.71 [{'connected_gene': 'C17orf67', 'score': 17.91}, {'connected_gene': 'ENSG00000262298', 'score': 10.2}, {'connected_gene': 'GC17M056800', 'score': 0.44}, {'connected_gene': 'GC17M056765', 'score': 0.31}, {'connected_gene': 'GC17M056657', 'score': 0.18}]
chr17 GH17I056795 56795560 56795624 0.63 [{'connected_gene': 'C17orf67', 'score': 10.95}, {'connected_gene': 'GC17M056800', 'score': 0.44}, {'connected_gene': 'GC17M056765', 'score': 0.31}, {'connected_gene': 'GC17M056657', 'score': 0.18}]
chr17 GH17I056815 56815732 56816392 0.4 [{'connected_gene': 'C17orf67', 'score': 11.32}, {'connected_gene': 'ENSG00000283209', 'score': 0.39}, {'connected_gene': 'PIR41486', 'score': 0.37}, {'connected_gene': 'GC17M056657', 'score': 0.21}]
chr17 GH17I056903 56903790 56905176 0.38 [{'connected_gene': 'RNU6-1158P', 'score': 11.41}, {'connected_gene': 'C17orf67', 'score': 11.22}, {'connected_gene': 'TRIM25', 'score': 0.44}, {'connected_gene': 'MIR3614', 'score': 0.39}]
chr17 GH17I056901 56901335 56903173 0.79 [{'connected_gene': 'RNU6-1158P', 'score': 12.23}, {'connected_gene': 'C17orf67', 'score': 11.66}, {'connected_gene': 'SCPEP1', 'score': 7.93}, {'connected_gene': 'TRIM25', 'score': 0.39}, {'connected_gene': 'MIR3614', 'score': 0.39}]
chr17 GH17I056898 56898529 56900088 0.46 [{'connected_gene': 'RNU6-1158P', 'score': 12.24}, {'connected_gene': 'C17orf67', 'score': 11.66}, {'connected_gene': 'SCPEP1', 'score': 8.87}, {'connected_gene': 'MIR3614', 'score': 0.44}, {'connected_gene': 'TRIM25', 'score': 0.39}]
chr17 GH17I056897 56897680 56897829 0.66 [{'connected_gene': 'RNU6-1158P', 'score': 12.24}, {'connected_gene': 'C17orf67', 'score': 11.67}, {'connected_gene': 'MIR3614', 'score': 0.44}, {'connected_gene': 'TRIM25', 'score': 0.37}]
chr17 GH17I056899 56897151 56897249 0.4 [{'connected_gene': 'RNU6-1158P', 'score': 12.24}, {'connected_gene': 'C17orf67', 'score': 11.67}, {'connected_gene': 'MIR3614', 'score': 0.44}, {'connected_gene': 'TRIM25', 'score': 0.37}]
chr17 GH17I056889 56889978 56892240 0.67 [{'connected_gene': 'MIR3614', 'score': 550.77}, {'connected_gene': 'TRIM25', 'score': 12.58}, {'connected_gene': 'C17orf67', 'score': 11.23}, {'connected_gene': 'SCPEP1', 'score': 10.64}, {'connected_gene': 'ENSG00000262112', 'score': 0.77}]
chr17 GH17I056939 56939980 56940169 0.74 [{'connected_gene': 'ENSG00000262298', 'score': 550.77}, {'connected_gene': 'C17orf67', 'score': 11.47}, {'connected_gene': 'SCPEP1', 'score': 10.96}, {'connected_gene': 'LOC100419768', 'score': 0.39}, {'connected_gene': 'COIL', 'score': 0.34}]
chr17 GH17I056885 56885709 56888329 1.05 [{'connected_gene': 'ENSG00000262112', 'score': 550.77}, {'connected_gene': 'ENSG00000262298', 'score': 13.18}, {'connected_gene': 'C17orf67', 'score': 10.97}, {'connected_gene': 'MTVR2', 'score': 0.77}, {'connected_gene': 'TRIM25', 'score': 0.31}]
chr17 GH17I056823 56823980 56824069 0.43 [{'connected_gene': 'PIR41486', 'score': 0.44}, {'connected_gene': 'C17orf67', 'score': 0.39}, {'connected_gene': 'ENSG00000283209', 'score': 0.37}, {'connected_gene': 'GC17M056820', 'score': 0.26}, {'connected_gene': 'GC17M056657', 'score': 0.23}]
chr17 GH17I056881 56881706 56882330 0.2 [{'connected_gene': 'GC17P056881', 'score': 550.77}, {'connected_gene': 'GC17P056884', 'score': 550.77}, {'connected_gene': 'GC17P056882', 'score': 550.77}, {'connected_gene': 'GC17P056883', 'score': 550.77}, {'connected_gene': 'C17orf67', 'score': 10.98}]
chr17 GH17I056883 56883458 56884981 0.31 [{'connected_gene': 'GC17P056884', 'score': 550.77}, {'connected_gene': 'GC17P056882', 'score': 550.77}, {'connected_gene': 'MTVR2', 'score': 550.77}, {'connected_gene': 'GC17P056883', 'score': 550.77}, {'connected_gene': 'C17orf67', 'score': 10.97}]
chr17 GH17I056890 56889297 56889804 0.38 [{'connected_gene': 'ENSG00000262112', 'score': 550.77}, {'connected_gene': 'MIR3614', 'score': 550.77}, {'connected_gene': 'C17orf67', 'score': 11.23}, {'connected_gene': 'SCPEP1', 'score': 10.64}, {'connected_gene': 'TRIM25', 'score': 0.34}]