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
ENST00000409798 [[183982241, 183982354], [183984733, 183984842], [183993014, 183993185], [183995145, 183995273], [183998293, 183998351], [184016235, 184016377], [184022171, 184022241], [184023010, 184023139], [184024215, 184024380], [184025781, 184026166]] [[183993025, 183993185], [183995145, 183995273], [183998293, 183998351], [184016235, 184016377], [184022171, 184022241], [184023010, 184023139], [184024215, 184024380], [184025781, 184025859]]
ENST00000295119 [[183989082, 183989225], [183993014, 183993185], [183995145, 183995273], [183998293, 183998351], [184016235, 184016377], [184022171, 184022241], [184023010, 184023139], [184024215, 184024380], [184025781, 184026408]] [[183989185, 183989225], [183993014, 183993185], [183995145, 183995273], [183998293, 183998351], [184016235, 184016377], [184022171, 184022241], [184023010, 184023139], [184024215, 184024380], [184025781, 184025859]]
ENST00000374930 [[183989139, 183989225], [183993014, 183993185], [183995145, 183995273], [183998293, 183998351], [184022171, 184022241], [184023010, 184023139], [184024215, 184024380], [184025781, 184025972]] [[183989185, 183989225], [183993014, 183993185], [183995145, 183995273], [183998293, 183998351], [184022171, 184022233]]
ENST00000479162 [[183989146, 183989225], [183993014, 183993185], [183995145, 183995273], [183998293, 183998351], [184022171, 184022241], [184023010, 184023139], [184024215, 184026408]] None
ENST00000541912 [[183989172, 183989225], [183993014, 183993185], [183995145, 183995273], [183995722, 183995845], [183998293, 183998351], [184016235, 184016377], [184022171, 184022241], [184023010, 184023139], [184024215, 184024380], [184025781, 184026366]] [[184016243, 184016377], [184022171, 184022241], [184023010, 184023139], [184024215, 184024380], [184025781, 184025859]]
ENST00000442895 [[183982240, 183982354], [183983318, 183983470], [183984733, 183984842], [183993014, 183993185], [183995145, 183995215]] [[183993025, 183993185], [183995145, 183995215]]
ENST00000446612 [[183982241, 183982354], [183993014, 183993185], [183995145, 183995273], [183998293, 183998351]] [[183993025, 183993185], [183995145, 183995273], [183998293, 183998351]]
ENST00000472844 [[183982246, 183982354], [183983318, 183983667], [183984733, 183984790]] None
ENST00000455063 [[183982265, 183982354], [183983054, 183983136], [183993014, 183993185]] [[183993025, 183993185]]
ENST00000497330 [[183989103, 183989225], [183993014, 183993185], [183995145, 183995273], [183995722, 183995845]] None
ENST00000452137 [[183989185, 183989225], [183993014, 183993185], [183995145, 183995273], [183995722, 183996080], [183998293, 183998351]] [[183989185, 183989225], [183993014, 183993185], [183995145, 183995273], [183995722, 183995794]]
NM_001287584 [[183982217, 183982354], [183984733, 183984842], [183993014, 183993185], [183995145, 183995273], [183998293, 183998351], [184016235, 184016377], [184022171, 184022241], [184023010, 184023139], [184024215, 184024380], [184025781, 184026412]] [[183993025, 183993185], [183995145, 183995273], [183998293, 183998351], [184016235, 184016377], [184022171, 184022241], [184023010, 184023139], [184024215, 184024380], [184025781, 184025859]]
NR_109856 [[183989082, 183989225], [183993014, 183993185], [183995145, 183995273], [183998293, 183998351], [184022171, 184022241], [184023010, 184023139], [184024215, 184024380], [184025781, 184026412]] None
NM_138285 [[183989082, 183989225], [183993014, 183993185], [183995145, 183995273], [183998293, 183998351], [184016235, 184016377], [184022171, 184022241], [184023010, 184023139], [184024215, 184024380], [184025781, 184026412]] [[183989185, 183989225], [183993014, 183993185], [183995145, 183995273], [183998293, 183998351], [184016235, 184016377], [184022171, 184022241], [184023010, 184023139], [184024215, 184024380], [184025781, 184025859]]
NM_001287585 [[183989082, 183989225], [183993014, 183993185], [183995145, 183995273], [183995722, 183995845], [183998293, 183998351], [184016235, 184016377], [184022171, 184022241], [184023010, 184023139], [184024215, 184024380], [184025781, 184026412]] [[183998308, 183998351], [184016235, 184016377], [184022171, 184022241], [184023010, 184023139], [184024215, 184024380], [184025781, 184025859]]
Promoter
Chrom Start End Description
chr2 183982230 183982233 CAGE_peak_6_at_NUP35_5end
chr2 183982238 183982250 CAGE_peak_4_at_NUP35_5end
chr2 183982255 183982264 CAGE_peak_5_at_NUP35_5end
chr2 183989115 183989151 CAGE_peak_2_at_NUP35_5end
chr2 183989157 183989179 CAGE_peak_1_at_NUP35_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I182714 182714696 182718639 2.07 [{'connected_gene': 'DNAJC10', 'score': 550.77}, {'connected_gene': 'NCKAP1', 'score': 13.08}, {'connected_gene': 'NUP35', 'score': 10.54}, {'connected_gene': 'PDE1A', 'score': 10.03}, {'connected_gene': 'FRZB', 'score': 7.0}, {'connected_gene': 'GC02P182762', 'score': 0.25}]
chr2 GH02I183070 183070962 183071800 0.94 [{'connected_gene': 'KRT8P10', 'score': 550.77}, {'connected_gene': 'NUP35', 'score': 16.49}, {'connected_gene': 'GC02M183065', 'score': 0.44}, {'connected_gene': 'ENSG00000221498', 'score': 0.44}]
chr2 GH02I183078 183078001 183080049 2.03 [{'connected_gene': 'DUSP19', 'score': 558.04}, {'connected_gene': 'NCKAP1', 'score': 11.35}, {'connected_gene': 'NUP35', 'score': 11.3}, {'connected_gene': 'ENSG00000224643', 'score': 10.83}, {'connected_gene': 'FRZB', 'score': 6.0}]
chr2 GH02I183123 183123401 183126589 2.09 [{'connected_gene': 'NUP35', 'score': 563.68}, {'connected_gene': 'DUSP19', 'score': 18.05}, {'connected_gene': 'LOC105373774', 'score': 4.76}, {'connected_gene': 'GC02P183146', 'score': 0.34}]
chr2 GH02I183117 183117465 183117524 0.73 [{'connected_gene': 'NUP35', 'score': 550.77}, {'connected_gene': 'GC02P183146', 'score': 0.31}]
chr2 GH02I183034 183034790 183039545 2.04 [{'connected_gene': 'NCKAP1', 'score': 555.34}, {'connected_gene': 'NUP35', 'score': 26.3}, {'connected_gene': 'DNAJC10', 'score': 10.58}, {'connected_gene': 'FRZB', 'score': 9.64}, {'connected_gene': 'GC02M183023', 'score': 0.39}, {'connected_gene': 'ENSG00000202141', 'score': 0.39}]
chr2 GH02I183085 183085855 183085885 0.25 [{'connected_gene': 'ENSG00000221498', 'score': 12.36}, {'connected_gene': 'ENSG00000224643', 'score': 12.11}, {'connected_gene': 'NUP35', 'score': 11.26}, {'connected_gene': 'DUSP19', 'score': 0.44}]
chr2 GH02I183091 183091493 183091582 0.63 [{'connected_gene': 'ENSG00000221498', 'score': 11.74}, {'connected_gene': 'NUP35', 'score': 11.15}, {'connected_gene': 'DUSP19', 'score': 0.39}, {'connected_gene': 'ENSG00000224643', 'score': 0.37}]
chr2 GH02I183063 183063119 183063394 0.46 [{'connected_gene': 'GC02M183065', 'score': 550.77}, {'connected_gene': 'GC02P183062', 'score': 550.77}, {'connected_gene': 'ENSG00000221498', 'score': 550.77}, {'connected_gene': 'NUP35', 'score': 8.33}, {'connected_gene': 'DUSP19', 'score': 2.32}]

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