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
ENST00000601380 [[74907283, 74907652], [74912628, 74912732], [74916139, 74916238], [74921471, 74921570], [74921675, 74921780], [74930722, 74930821], [74931608, 74931707], [74948966, 74949065], [74951853, 74951952], [74955107, 74955206], [74959218, 74959314], [74962616, 74962818], [74965076, 74965208], [74966803, 74967671]] [[74907459, 74907652], [74912628, 74912732], [74916139, 74916238], [74921471, 74921570], [74921675, 74921780], [74930722, 74930821], [74931608, 74931707], [74948966, 74949065], [74951853, 74951952], [74955107, 74955206], [74959218, 74959314], [74962616, 74962818], [74965076, 74965208], [74966803, 74966865]]
ENST00000506596 [[74907300, 74907652], [74948966, 74949065], [74951853, 74951952], [74955107, 74955206], [74959218, 74959314], [74962616, 74962818], [74966803, 74967671]] None
ENST00000504514 [[74930476, 74930821], [74931608, 74931707], [74948966, 74949065], [74951853, 74951952], [74955107, 74955206], [74959218, 74959236]] None
ENST00000594319 [[74931136, 74931707], [74948966, 74949065], [74951853, 74951952], [74955107, 74955129]] None
NM_001276713 [[74907300, 74907652], [74912628, 74912732], [74916139, 74916238], [74921471, 74921570], [74921675, 74921780], [74930722, 74930821], [74931608, 74931707], [74948966, 74949065], [74951853, 74951952], [74955107, 74955206], [74959218, 74959314], [74962616, 74962818], [74965076, 74965208], [74966803, 74967671]] [[74907459, 74907652], [74912628, 74912732], [74916139, 74916238], [74921471, 74921570], [74921675, 74921780], [74930722, 74930821], [74931608, 74931707], [74948966, 74949065], [74951853, 74951952], [74955107, 74955206], [74959218, 74959314], [74962616, 74962818], [74965076, 74965208], [74966803, 74966865]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I075610 75610281 75618773 2.08 [{'connected_gene': 'ANKDD1B', 'score': 555.66}, {'connected_gene': 'POC5', 'score': 16.14}, {'connected_gene': 'RPS26P26', 'score': 12.48}, {'connected_gene': 'GCNT4', 'score': 11.77}, {'connected_gene': 'COL4A3BP', 'score': 11.02}, {'connected_gene': 'RNU6-680P', 'score': 0.15}]
chr5 GH05I075656 75656191 75657200 0.8 [{'connected_gene': 'ANKDD1B', 'score': 10.34}, {'connected_gene': 'RNU6-680P', 'score': 10.18}]
chr5 GH05I075057 75057112 75061721 0.92 [{'connected_gene': 'GCNT4', 'score': 35.05}, {'connected_gene': 'ANKRD31', 'score': 16.5}, {'connected_gene': 'ANKDD1B', 'score': 6.04}, {'connected_gene': 'FAM169A', 'score': 1.38}, {'connected_gene': 'LINC01336', 'score': 0.44}, {'connected_gene': 'PIR55798', 'score': 0.19}]
chr5 GH05I075335 75335057 75342822 2.1 [{'connected_gene': 'HMGCR', 'score': 550.77}, {'connected_gene': 'POC5', 'score': 13.4}, {'connected_gene': 'RAP1BL', 'score': 11.81}, {'connected_gene': 'RPS26P26', 'score': 10.99}, {'connected_gene': 'ANKDD1B', 'score': 9.35}, {'connected_gene': 'GCNT4', 'score': 6.89}, {'connected_gene': 'POLK', 'score': 5.73}, {'connected_gene': 'ENSG00000247372', 'score': 0.77}, {'connected_gene': 'GC05P075337', 'score': 0.77}, {'connected_gene': 'ENSG00000271815', 'score': 0.34}]
chr5 GH05I075235 75235972 75237706 1.99 [{'connected_gene': 'ANKRD31', 'score': 550.77}, {'connected_gene': 'ANKDD1B', 'score': 4.86}, {'connected_gene': 'GCNT4', 'score': 4.38}, {'connected_gene': 'SUMO2P5', 'score': 0.39}]
chr5 GH05I075677 75677295 75678866 0.95 [{'connected_gene': 'POC5', 'score': 12.18}, {'connected_gene': 'ANKDD1B', 'score': 11.73}, {'connected_gene': 'POLK', 'score': 2.11}, {'connected_gene': 'COL4A3BP', 'score': 1.26}, {'connected_gene': 'ANKRD31', 'score': 1.22}, {'connected_gene': 'RNU6-680P', 'score': 0.29}]
chr5 GH05I075639 75639836 75641703 0.69 [{'connected_gene': 'POC5', 'score': 7.88}, {'connected_gene': 'ANKDD1B', 'score': 6.43}, {'connected_gene': 'RNU6-680P', 'score': 0.2}]
chr5 GH05I075648 75648361 75649258 0.67 [{'connected_gene': 'POC5', 'score': 18.52}, {'connected_gene': 'ANKDD1B', 'score': 6.11}, {'connected_gene': 'RNU6-680P', 'score': 0.21}]
chr5 GH05I075660 75660001 75661230 0.8 [{'connected_gene': 'POC5', 'score': 11.35}, {'connected_gene': 'ANKDD1B', 'score': 10.8}, {'connected_gene': 'RNU6-680P', 'score': 0.25}]
chr5 GH05I075668 75668565 75670071 1.15 [{'connected_gene': 'POC5', 'score': 21.08}, {'connected_gene': 'ANKDD1B', 'score': 13.13}, {'connected_gene': 'RNU6-680P', 'score': 0.26}]
chr5 GH05I075715 75715814 75718085 2.08 [{'connected_gene': 'POC5', 'score': 573.14}, {'connected_gene': 'LOC441087', 'score': 550.77}, {'connected_gene': 'RPS26P26', 'score': 32.35}, {'connected_gene': 'NSA2', 'score': 10.74}, {'connected_gene': 'F2R', 'score': 10.1}, {'connected_gene': 'ANKDD1B', 'score': 6.97}, {'connected_gene': 'RNU6-680P', 'score': 0.44}]
chr5 GH05I075681 75681001 75681599 0.8 [{'connected_gene': 'POC5', 'score': 23.53}, {'connected_gene': 'RNU6-680P', 'score': 11.35}, {'connected_gene': 'ANKRD31', 'score': 10.27}, {'connected_gene': 'ANKDD1B', 'score': 0.19}]
chr5 GH05I075738 75738416 75738744 0.22 [{'connected_gene': 'POC5', 'score': 11.15}, {'connected_gene': 'RNU6-680P', 'score': 10.25}, {'connected_gene': 'SAP18P1', 'score': 10.0}, {'connected_gene': 'LOC105379041', 'score': 9.99}, {'connected_gene': 'SV2C', 'score': 9.99}, {'connected_gene': 'LOC100132039', 'score': 9.99}, {'connected_gene': 'ANKDD1B', 'score': 5.29}, {'connected_gene': 'GC05M075753', 'score': 0.39}, {'connected_gene': 'GC05P075723', 'score': 0.37}]
chr5 GH05I075523 75523637 75526800 1 [{'connected_gene': 'COL4A3BP', 'score': 11.23}, {'connected_gene': 'ANKDD1B', 'score': 5.04}, {'connected_gene': 'POLK', 'score': 0.39}, {'connected_gene': 'GC05M075540', 'score': 0.39}]
chr5 GH05I075622 75622165 75624778 0.66 [{'connected_gene': 'COL4A3BP', 'score': 10.78}, {'connected_gene': 'POC5', 'score': 9.87}, {'connected_gene': 'GCNT4', 'score': 9.54}, {'connected_gene': 'ANKDD1B', 'score': 0.39}, {'connected_gene': 'RNU6-680P', 'score': 0.17}]
chr5 GH05I075620 75620064 75621461 0.77 [{'connected_gene': 'COL4A3BP', 'score': 11.0}, {'connected_gene': 'POC5', 'score': 7.66}, {'connected_gene': 'GCNT4', 'score': 5.73}, {'connected_gene': 'ANKDD1B', 'score': 0.44}, {'connected_gene': 'RNU6-680P', 'score': 0.17}]
chr5 GH05I075701 75701958 75701997 0.22 [{'connected_gene': 'COL4A3BP', 'score': 1.47}, {'connected_gene': 'RNU6-680P', 'score': 0.44}, {'connected_gene': 'POC5', 'score': 0.37}, {'connected_gene': 'ANKDD1B', 'score': 0.16}]