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
ENST00000356728 [[151778546, 151780109], [151783800, 151783910], [151785422, 151785533], [151785714, 151785822], [151785963, 151786096], [151787049, 151787171], [151787388, 151787901], [151789139, 151789281], [151789670, 151789756], [151798405, 151798567]] [[151779947, 151780109], [151783800, 151783910], [151785422, 151785533], [151785714, 151785822], [151785963, 151786096], [151787049, 151787171], [151787388, 151787901], [151789139, 151789281], [151789670, 151789756], [151798405, 151798412]]
ENST00000392697 [[151779369, 151780109], [151783800, 151783910], [151785422, 151785533], [151785714, 151785822], [151785963, 151786096], [151787049, 151787171], [151787388, 151787901], [151789139, 151789281], [151789670, 151789756], [151801904, 151801934], [151803403, 151803608], [151804200, 151804226]] [[151779947, 151780109], [151783800, 151783910], [151785422, 151785533], [151785714, 151785822], [151785963, 151786096], [151787049, 151787171], [151787388, 151787901], [151789139, 151789281], [151789670, 151789756], [151801904, 151801934], [151803403, 151803605]]
ENST00000318247 [[151779432, 151780109], [151783800, 151783910], [151785422, 151785533], [151785714, 151785822], [151785963, 151786096], [151787049, 151787171], [151787388, 151787901], [151789139, 151789281], [151789670, 151789756], [151801904, 151801934], [151804200, 151804348]] [[151779947, 151780109], [151783800, 151783910], [151785422, 151785533], [151785714, 151785822], [151785963, 151786096], [151787049, 151787171], [151787388, 151787901], [151789139, 151789281], [151789670, 151789756], [151801904, 151801934], [151804200, 151804240]]
ENST00000480719 [[151779433, 151780109], [151783800, 151787265]] None
NM_001001523 [[151778546, 151780109], [151783800, 151783910], [151785422, 151785533], [151785714, 151785822], [151785963, 151786096], [151787049, 151787171], [151787388, 151787901], [151789139, 151789281], [151789670, 151789756], [151798405, 151798553]] [[151779947, 151780109], [151783800, 151783910], [151785422, 151785533], [151785714, 151785822], [151785963, 151786096], [151787049, 151787171], [151787388, 151787901], [151789139, 151789281], [151789670, 151789756], [151798405, 151798412]]
NM_005060 [[151778546, 151780109], [151783800, 151783910], [151785422, 151785533], [151785714, 151785822], [151785963, 151786096], [151787049, 151787171], [151787388, 151787901], [151789139, 151789281], [151789670, 151789756], [151801904, 151801934], [151804200, 151804348]] [[151779947, 151780109], [151783800, 151783910], [151785422, 151785533], [151785714, 151785822], [151785963, 151786096], [151787049, 151787171], [151787388, 151787901], [151789139, 151789281], [151789670, 151789756], [151801904, 151801934], [151804200, 151804240]]
Promoter
Chrom Start End Description
chr1 151798536 151798541 CAGE_peak_6_at_RORC_5end
chr1 151798546 151798590 CAGE_peak_2_at_RORC_5end
chr1 151798601 151798617 CAGE_peak_3_at_RORC_5end
chr1 151804222 151804228 CAGE_peak_5_at_RORC_5end
chr1 151804244 151804310 CAGE_peak_1_at_RORC_5end
chr1 151804314 151804321 CAGE_peak_4_at_RORC_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I151593 151593601 151594805 1.04 [{'connected_gene': 'PIP5K1A', 'score': 20.81}, {'connected_gene': 'SETDB1', 'score': 20.28}, {'connected_gene': 'UBE2D3P3', 'score': 15.03}, {'connected_gene': 'PI4KB', 'score': 14.74}, {'connected_gene': 'ZNF687', 'score': 14.44}, {'connected_gene': 'GABPB2', 'score': 11.88}, {'connected_gene': 'GOLPH3L', 'score': 11.6}, {'connected_gene': 'RNU6-1062P', 'score': 11.47}, {'connected_gene': 'MRPL9', 'score': 11.46}, {'connected_gene': 'ARNT', 'score': 11.05}, {'connected_gene': 'TUFT1', 'score': 10.9}, {'connected_gene': 'ENSG00000232536', 'score': 10.9}, {'connected_gene': 'RPS10P6', 'score': 10.9}, {'connected_gene': 'MIR554', 'score': 10.87}, {'connected_gene': 'ENSG00000227045', 'score': 10.75}, {'connected_gene': 'RIIAD1', 'score': 10.73}, {'connected_gene': 'CELF3', 'score': 10.73}, {'connected_gene': 'ENSG00000252840', 'score': 10.6}, {'connected_gene': 'CGN', 'score': 10.58}, {'connected_gene': 'RORC', 'score': 10.22}, {'connected_gene': 'ENSG00000229021', 'score': 9.95}, {'connected_gene': 'LINGO4', 'score': 9.9}, {'connected_gene': 'LOC100132111', 'score': 9.71}, {'connected_gene': 'C2CD4D', 'score': 9.71}, {'connected_gene': 'ENSG00000201134', 'score': 9.71}, {'connected_gene': 'SNX27', 'score': 0.37}]
chr1 GH01I151639 151639065 151639215 0.63 [{'connected_gene': 'SNX27', 'score': 11.16}, {'connected_gene': 'ENSG00000250734', 'score': 11.16}, {'connected_gene': 'RPS10P6', 'score': 10.08}, {'connected_gene': 'MIR554', 'score': 10.06}, {'connected_gene': 'TUFT1', 'score': 10.05}, {'connected_gene': 'ENSG00000252840', 'score': 9.88}, {'connected_gene': 'CGN', 'score': 9.87}, {'connected_gene': 'RORC', 'score': 9.7}, {'connected_gene': 'LINGO4', 'score': 9.65}, {'connected_gene': 'ENSG00000232937', 'score': 9.47}, {'connected_gene': 'MRPL9', 'score': 9.46}, {'connected_gene': 'OAZ3', 'score': 9.46}, {'connected_gene': 'RNU6-1062P', 'score': 0.44}, {'connected_gene': 'PIR55738', 'score': 0.23}]
chr1 GH01I151823 151823217 151823437 0.54 [{'connected_gene': 'SNX27', 'score': 4.98}, {'connected_gene': 'RORC', 'score': 3.09}, {'connected_gene': 'TCHHL1', 'score': 2.07}, {'connected_gene': 'GC01P151821', 'score': 0.77}]
chr1 GH01I151643 151643834 151644788 0.38 [{'connected_gene': 'SNX27', 'score': 21.64}, {'connected_gene': 'ENSG00000250734', 'score': 11.51}, {'connected_gene': 'ENSG00000227045', 'score': 11.44}, {'connected_gene': 'RIIAD1', 'score': 11.42}, {'connected_gene': 'CELF3', 'score': 11.41}, {'connected_gene': 'RPS10P6', 'score': 10.6}, {'connected_gene': 'MIR554', 'score': 10.58}, {'connected_gene': 'TUFT1', 'score': 10.58}, {'connected_gene': 'ENSG00000252840', 'score': 10.11}, {'connected_gene': 'CGN', 'score': 10.1}, {'connected_gene': 'RORC', 'score': 9.33}, {'connected_gene': 'GBAT2', 'score': 9.18}, {'connected_gene': 'RFX5', 'score': 9.18}, {'connected_gene': 'ENSG00000224645', 'score': 9.18}, {'connected_gene': 'RNU6-1062P', 'score': 0.39}, {'connected_gene': 'PIR55738', 'score': 0.25}]
chr1 GH01I151644 151644890 151646429 0.43 [{'connected_gene': 'SNX27', 'score': 11.51}, {'connected_gene': 'ENSG00000250734', 'score': 11.51}, {'connected_gene': 'ENSG00000227045', 'score': 11.44}, {'connected_gene': 'RIIAD1', 'score': 11.43}, {'connected_gene': 'CELF3', 'score': 11.41}, {'connected_gene': 'RPS10P6', 'score': 10.6}, {'connected_gene': 'MIR554', 'score': 10.58}, {'connected_gene': 'TUFT1', 'score': 10.57}, {'connected_gene': 'ENSG00000252840', 'score': 10.11}, {'connected_gene': 'CGN', 'score': 10.1}, {'connected_gene': 'RORC', 'score': 9.33}, {'connected_gene': 'GBAT2', 'score': 9.18}, {'connected_gene': 'RFX5', 'score': 9.18}, {'connected_gene': 'ENSG00000224645', 'score': 9.18}, {'connected_gene': 'RNU6-1062P', 'score': 0.37}, {'connected_gene': 'PIR55738', 'score': 0.25}]
chr1 GH01I151596 151596125 151597037 1.01 [{'connected_gene': 'TUFT1', 'score': 16.64}, {'connected_gene': 'RNU6-1062P', 'score': 11.48}, {'connected_gene': 'RPS10P6', 'score': 10.9}, {'connected_gene': 'ENSG00000232536', 'score': 10.89}, {'connected_gene': 'MIR554', 'score': 10.85}, {'connected_gene': 'ENSG00000227045', 'score': 10.75}, {'connected_gene': 'RIIAD1', 'score': 10.74}, {'connected_gene': 'CELF3', 'score': 10.73}, {'connected_gene': 'ENSG00000252840', 'score': 10.6}, {'connected_gene': 'CGN', 'score': 10.57}, {'connected_gene': 'RORC', 'score': 10.22}, {'connected_gene': 'LINGO4', 'score': 9.9}, {'connected_gene': 'LOC100132111', 'score': 9.71}, {'connected_gene': 'C2CD4D', 'score': 9.71}, {'connected_gene': 'ENSG00000201134', 'score': 9.71}, {'connected_gene': 'SNX27', 'score': 0.37}]
chr1 GH01I151811 151811305 151811454 0.46 [{'connected_gene': 'MRPL9', 'score': 10.41}, {'connected_gene': 'ENSG00000232937', 'score': 10.41}, {'connected_gene': 'OAZ3', 'score': 10.41}, {'connected_gene': 'LOC100132111', 'score': 10.2}, {'connected_gene': 'C2CD4D', 'score': 10.19}, {'connected_gene': 'ENSG00000201134', 'score': 10.19}, {'connected_gene': 'TUFT1', 'score': 10.14}, {'connected_gene': 'ENSG00000232536', 'score': 10.14}, {'connected_gene': 'CELF3', 'score': 9.82}, {'connected_gene': 'SNX27', 'score': 9.27}, {'connected_gene': 'ENSG00000250734', 'score': 9.27}, {'connected_gene': 'GC01P151821', 'score': 0.44}, {'connected_gene': 'LINGO4', 'score': 0.44}, {'connected_gene': 'RORC', 'score': 0.34}]
chr1 GH01I151824 151824628 151833643 1.89 [{'connected_gene': 'RORC', 'score': 550.77}, {'connected_gene': 'ZNF687', 'score': 12.81}, {'connected_gene': 'PIP5K1A', 'score': 11.6}, {'connected_gene': 'SETDB1', 'score': 11.43}, {'connected_gene': 'LINGO4', 'score': 8.52}, {'connected_gene': 'FLG-AS1', 'score': 7.24}, {'connected_gene': 'THEM4', 'score': 5.13}, {'connected_gene': 'ENSG00000269621', 'score': 4.99}, {'connected_gene': 'FLG', 'score': 4.98}, {'connected_gene': 'OAZ3', 'score': 4.37}, {'connected_gene': 'GC01P151821', 'score': 0.44}]
chr1 GH01I152501 152501203 152504185 0.57 [{'connected_gene': 'RORC', 'score': 5.67}, {'connected_gene': 'CRNN', 'score': 5.38}, {'connected_gene': 'LCE5A', 'score': 0.44}, {'connected_gene': 'PIR42758', 'score': 0.18}]
chr1 GH01I152506 152506594 152507583 0.31 [{'connected_gene': 'RORC', 'score': 5.25}, {'connected_gene': 'LCE5A', 'score': 0.77}, {'connected_gene': 'PIR42758', 'score': 0.17}]
chr1 GH01I151834 151834201 151834600 0.94 [{'connected_gene': 'RORC', 'score': 0.77}, {'connected_gene': 'LOC100132111', 'score': 0.77}]
chr1 GH01I151508 151508650 151517587 2.74 [{'connected_gene': 'CGN', 'score': 565.95}, {'connected_gene': 'ARNT', 'score': 18.45}, {'connected_gene': 'SETDB1', 'score': 17.38}, {'connected_gene': 'PI4KB', 'score': 13.55}, {'connected_gene': 'GOLPH3L', 'score': 13.14}, {'connected_gene': 'UBE2D3P3', 'score': 12.99}, {'connected_gene': 'CTSK', 'score': 12.04}, {'connected_gene': 'RPS10P6', 'score': 12.03}, {'connected_gene': 'ZNF687', 'score': 11.58}, {'connected_gene': 'PIP5K1A', 'score': 11.32}, {'connected_gene': 'MRPL9', 'score': 10.36}, {'connected_gene': 'GABPB2', 'score': 10.25}, {'connected_gene': 'PSMB4', 'score': 9.99}, {'connected_gene': 'RN7SL444P', 'score': 9.72}, {'connected_gene': 'FLG', 'score': 6.84}, {'connected_gene': 'C1orf56', 'score': 4.32}, {'connected_gene': 'TUFT1', 'score': 3.36}, {'connected_gene': 'C2CD4D', 'score': 1.82}, {'connected_gene': 'RORC', 'score': 1.75}, {'connected_gene': 'SELENBP1', 'score': 1.35}, {'connected_gene': 'ENSG00000252840', 'score': 0.39}]
chr1 GH01I151773 151773345 151774611 0.8 [{'connected_gene': 'TDRKH', 'score': 15.39}, {'connected_gene': 'RORC', 'score': 10.92}, {'connected_gene': 'LINGO4', 'score': 10.87}, {'connected_gene': 'CELF3', 'score': 10.72}, {'connected_gene': 'ENSG00000252840', 'score': 10.22}, {'connected_gene': 'CGN', 'score': 10.22}, {'connected_gene': 'TUFT1', 'score': 9.86}, {'connected_gene': 'ENSG00000232536', 'score': 9.86}, {'connected_gene': 'RNU6-1062P', 'score': 9.63}, {'connected_gene': 'SELENBP1', 'score': 8.89}, {'connected_gene': 'LOC100270670', 'score': 0.77}, {'connected_gene': 'ENSG00000249602', 'score': 0.77}]
chr1 GH01I151815 151815244 151816373 0.4 [{'connected_gene': 'TDRKH', 'score': 11.67}, {'connected_gene': 'TDRKH-AS1', 'score': 11.65}, {'connected_gene': 'THEM5', 'score': 10.28}, {'connected_gene': 'ENSG00000252840', 'score': 9.57}, {'connected_gene': 'CGN', 'score': 9.57}, {'connected_gene': 'SNX27', 'score': 7.15}, {'connected_gene': 'GC01P151821', 'score': 0.77}, {'connected_gene': 'LINGO4', 'score': 0.44}, {'connected_gene': 'RORC', 'score': 0.37}]
chr1 GH01I151817 151817401 151817800 0.4 [{'connected_gene': 'TDRKH-AS1', 'score': 11.65}, {'connected_gene': 'TDRKH', 'score': 11.65}, {'connected_gene': 'THEM5', 'score': 10.28}, {'connected_gene': 'ENSG00000252840', 'score': 9.57}, {'connected_gene': 'CGN', 'score': 9.57}, {'connected_gene': 'GC01P151821', 'score': 0.77}, {'connected_gene': 'RORC', 'score': 0.39}, {'connected_gene': 'LINGO4', 'score': 0.39}]
chr1 GH01I151814 151814265 151814720 0.2 [{'connected_gene': 'TDRKH-AS1', 'score': 11.67}, {'connected_gene': 'TDRKH', 'score': 11.67}, {'connected_gene': 'THEM5', 'score': 10.28}, {'connected_gene': 'ENSG00000252840', 'score': 9.57}, {'connected_gene': 'CGN', 'score': 9.57}, {'connected_gene': 'GC01P151821', 'score': 0.44}, {'connected_gene': 'LINGO4', 'score': 0.44}, {'connected_gene': 'RORC', 'score': 0.37}]
chr1 GH01I151835 151835142 151841097 1.64 [{'connected_gene': 'LOC100132111', 'score': 550.77}, {'connected_gene': 'SETDB1', 'score': 44.49}, {'connected_gene': 'PIP5K1A', 'score': 37.7}, {'connected_gene': 'POGZ', 'score': 35.43}, {'connected_gene': 'PI4KB', 'score': 32.72}, {'connected_gene': 'ARNT', 'score': 30.91}, {'connected_gene': 'GABPB2', 'score': 30.71}, {'connected_gene': 'MRPL9', 'score': 28.89}, {'connected_gene': 'LYSMD1', 'score': 20.63}, {'connected_gene': 'ZNF687', 'score': 19.62}, {'connected_gene': 'C1orf56', 'score': 13.32}, {'connected_gene': 'PRUNE1', 'score': 12.89}, {'connected_gene': 'RPS10P6', 'score': 11.83}, {'connected_gene': 'TDRKH-AS1', 'score': 10.98}, {'connected_gene': 'TDRKH', 'score': 10.98}, {'connected_gene': 'ENSG00000252840', 'score': 10.83}, {'connected_gene': 'CGN', 'score': 10.83}, {'connected_gene': 'ENSG00000232937', 'score': 10.49}, {'connected_gene': 'OAZ3', 'score': 10.48}, {'connected_gene': 'ENSG00000229021', 'score': 10.22}, {'connected_gene': 'PSMB4', 'score': 9.9}, {'connected_gene': 'RN7SL444P', 'score': 9.67}, {'connected_gene': 'C2CD4D', 'score': 5.77}, {'connected_gene': 'THEM5', 'score': 5.19}, {'connected_gene': 'RORC', 'score': 4.85}, {'connected_gene': 'THEM4', 'score': 4.55}]
chr1 GH01I151822 151822601 151823000 0.63 [{'connected_gene': 'GC01P151821', 'score': 0.77}, {'connected_gene': 'RORC', 'score': 0.44}]
chr1 GH01I151818 151818781 151821476 1.07 [{'connected_gene': 'GC01P151821', 'score': 550.77}, {'connected_gene': 'TDRKH-AS1', 'score': 11.71}, {'connected_gene': 'TDRKH', 'score': 11.71}, {'connected_gene': 'ENSG00000201134', 'score': 11.47}, {'connected_gene': 'C2CD4D', 'score': 11.44}, {'connected_gene': 'THEM5', 'score': 11.28}, {'connected_gene': 'ENSG00000232937', 'score': 10.58}, {'connected_gene': 'MRPL9', 'score': 10.57}, {'connected_gene': 'OAZ3', 'score': 10.57}, {'connected_gene': 'RPS10P6', 'score': 10.43}, {'connected_gene': 'TUFT1', 'score': 10.42}, {'connected_gene': 'MIR554', 'score': 10.42}, {'connected_gene': 'ENSG00000252840', 'score': 10.06}, {'connected_gene': 'CGN', 'score': 10.06}, {'connected_gene': 'CELF3', 'score': 9.99}, {'connected_gene': 'ENSG00000224645', 'score': 9.13}, {'connected_gene': 'GBAT2', 'score': 9.13}, {'connected_gene': 'RFX5', 'score': 9.13}, {'connected_gene': 'FLG-AS1', 'score': 7.54}, {'connected_gene': 'SNX27', 'score': 5.43}, {'connected_gene': 'RORC', 'score': 5.17}, {'connected_gene': 'LINGO4', 'score': 4.82}, {'connected_gene': 'THEM4', 'score': 4.21}]

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