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
ENST00000273920 [[83351714, 83352066], [83369072, 83369174], [83372195, 83372398], [83375874, 83376007], [83378067, 83378191], [83381133, 83382244]] [[83351982, 83352066], [83369072, 83369174], [83372195, 83372398], [83375874, 83376007], [83378067, 83378191], [83381133, 83381273]]
ENST00000509635 [[83351800, 83352037], [83369072, 83369174], [83372195, 83372398], [83375874, 83376007], [83378067, 83378191], [83381133, 83382208]] [[83372273, 83372398], [83375874, 83376007], [83378067, 83378191], [83381133, 83381273]]
ENST00000505846 [[83351814, 83352037], [83369072, 83369174], [83375874, 83376007], [83378067, 83378191], [83381133, 83382240]] [[83375923, 83376007], [83378067, 83378191], [83381133, 83381273]]
NR_120457 [[83351632, 83352037], [83369072, 83369174], [83375874, 83376007], [83378067, 83378191], [83381133, 83382328]] None
NM_001292017 [[83351632, 83352037], [83369072, 83369174], [83372195, 83372398], [83375874, 83376007], [83378067, 83378191], [83381133, 83382328]] [[83372273, 83372398], [83375874, 83376007], [83378067, 83378191], [83381133, 83381273]]
NM_021204 [[83351632, 83352066], [83369072, 83369174], [83372195, 83372398], [83375874, 83376007], [83378067, 83378191], [83381133, 83382328]] [[83351982, 83352066], [83369072, 83369174], [83372195, 83372398], [83375874, 83376007], [83378067, 83378191], [83381133, 83381273]]
Promoter
Chrom Start End Description
chr4 83351716 83351786 CAGE_peak_1_at_ENOPH1_5end
chr4 83351791 83351802 CAGE_peak_3_at_ENOPH1_5end
chr4 83351938 83351981 CAGE_peak_2_at_ENOPH1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I082394 82394488 82395559 0.63 [{'connected_gene': 'HNRNPDL', 'score': 11.76}, {'connected_gene': 'ENOPH1', 'score': 11.76}, {'connected_gene': 'HNRNPD', 'score': 11.7}, {'connected_gene': 'TMEM150C', 'score': 9.74}, {'connected_gene': 'IGBP1P4', 'score': 0.44}]
chr4 GH04I082380 82380428 82380577 0.6 [{'connected_gene': 'HNRNPDL', 'score': 11.45}, {'connected_gene': 'ENOPH1', 'score': 11.45}, {'connected_gene': 'HNRNPD', 'score': 0.44}, {'connected_gene': 'LOC101928963', 'score': 0.44}, {'connected_gene': 'IGBP1P4', 'score': 0.34}]
chr4 GH04I082367 82367627 82368566 0.49 [{'connected_gene': 'HNRNPDL', 'score': 11.42}, {'connected_gene': 'ENOPH1', 'score': 11.42}, {'connected_gene': 'PIR50483', 'score': 0.77}, {'connected_gene': 'HNRNPD', 'score': 0.44}, {'connected_gene': 'LOC101928963', 'score': 0.44}]
chr4 GH04I082366 82366790 82367598 0.46 [{'connected_gene': 'HNRNPDL', 'score': 11.42}, {'connected_gene': 'ENOPH1', 'score': 11.42}, {'connected_gene': 'ENSG00000273156', 'score': 4.99}, {'connected_gene': 'PIR50483', 'score': 0.77}, {'connected_gene': 'HNRNPD', 'score': 0.44}, {'connected_gene': 'LOC101928963', 'score': 0.44}]
chr4 GH04I082427 82427001 82431942 2.47 [{'connected_gene': 'HNRNPDL', 'score': 561.48}, {'connected_gene': 'ENOPH1', 'score': 555.76}, {'connected_gene': 'HNRNPD', 'score': 51.86}, {'connected_gene': 'ENSG00000202440', 'score': 0.31}, {'connected_gene': 'GC04M082403', 'score': 0.31}]
chr4 GH04I082360 82360040 82361408 0.74 [{'connected_gene': 'HNRNPDL', 'score': 11.7}, {'connected_gene': 'ENOPH1', 'score': 11.7}, {'connected_gene': 'ENSG00000273156', 'score': 5.89}, {'connected_gene': 'PIR50483', 'score': 0.77}, {'connected_gene': 'HNRNPD', 'score': 0.39}]
chr4 GH04I083356 83356535 83359231 1.12 [{'connected_gene': 'ENOPH1', 'score': 4.22}, {'connected_gene': 'ENSG00000274154', 'score': 0.39}, {'connected_gene': 'HPSE', 'score': 0.34}]
chr4 GH04I082433 82433715 82434774 0.2 [{'connected_gene': 'ENOPH1', 'score': 5.65}, {'connected_gene': 'GC04M082456', 'score': 0.31}]
chr4 GH04I082436 82436989 82438397 0.62 [{'connected_gene': 'ENOPH1', 'score': 0.44}, {'connected_gene': 'GC04M082456', 'score': 0.31}]
chr4 GH04I082423 82423021 82424614 0.65 [{'connected_gene': 'HNRNPD', 'score': 11.96}, {'connected_gene': 'ENOPH1', 'score': 5.31}, {'connected_gene': 'HNRNPDL', 'score': 0.44}, {'connected_gene': 'ENSG00000202440', 'score': 0.34}, {'connected_gene': 'GC04M082403', 'score': 0.34}]
chr4 GH04I082370 82370936 82376001 2.33 [{'connected_gene': 'HNRNPD', 'score': 580.64}, {'connected_gene': 'LOC101928963', 'score': 556.13}, {'connected_gene': 'HNRNPDL', 'score': 27.44}, {'connected_gene': 'THAP9-AS1', 'score': 19.9}, {'connected_gene': 'SEC31A', 'score': 13.38}, {'connected_gene': 'ENOPH1', 'score': 11.72}, {'connected_gene': 'TMEM150C', 'score': 4.4}, {'connected_gene': 'PIR50483', 'score': 0.44}]
chr4 GH04I082363 82363139 82364803 0.54 [{'connected_gene': 'PIR50483', 'score': 550.77}, {'connected_gene': 'HNRNPDL', 'score': 11.7}, {'connected_gene': 'ENOPH1', 'score': 11.7}, {'connected_gene': 'ENSG00000273156', 'score': 5.94}, {'connected_gene': 'HNRNPD', 'score': 0.39}, {'connected_gene': 'LOC101928963', 'score': 0.39}]
chr4 GH04I082361 82361654 82362966 0.49 [{'connected_gene': 'PIR50483', 'score': 550.77}, {'connected_gene': 'HNRNPDL', 'score': 11.7}, {'connected_gene': 'ENOPH1', 'score': 11.7}, {'connected_gene': 'ENSG00000273156', 'score': 5.01}, {'connected_gene': 'HNRNPD', 'score': 0.39}]
chr4 GH04I082461 82461856 82462234 0.52 [{'connected_gene': 'GC04M082456', 'score': 550.77}, {'connected_gene': 'ENOPH1', 'score': 0.29}]
chr4 GH04I082462 82462396 82463137 0.69 [{'connected_gene': 'GC04M082456', 'score': 550.77}, {'connected_gene': 'ENOPH1', 'score': 0.29}]