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
ENST00000375431 [[113978504, 113978892], [113979975, 113980161], [113980233, 113980406], [113999177, 113999274], [114005163, 114005288], [114009637, 114009796], [114018076, 114018225], [114018334, 114018441]] [[113978802, 113978892], [113979975, 113980161], [113980233, 113980406], [113999177, 113999274], [114005163, 114005288], [114009637, 114009796], [114018076, 114018225], [114018334, 114018366]]
ENST00000326039 [[113979376, 113980161], [113980233, 113980406], [113999177, 113999274], [114005163, 114005288], [114009637, 114009751]] [[113979861, 113980161], [113980233, 113980406], [113999177, 113999274], [114005163, 114005288], [114009637, 114009743]]
ENST00000375430 [[113979497, 113980161], [113980233, 113980406], [113999177, 113999274], [114005163, 114005288], [114009637, 114009796], [114018076, 114018225], [114018334, 114018413]] [[113979861, 113980161], [113980233, 113980406], [113999177, 113999274], [114005163, 114005288], [114009637, 114009796], [114018076, 114018225], [114018334, 114018366]]
ENST00000476439 [[114013931, 114014599], [114018076, 114018225], [114018386, 114018446]] None
NM_024719 [[113978478, 113978892], [113979975, 113980161], [113980233, 113980406], [113999177, 113999274], [114005163, 114005288], [114009637, 114009796], [114018076, 114018225], [114018334, 114018463]] [[113978802, 113978892], [113979975, 113980161], [113980233, 113980406], [113999177, 113999274], [114005163, 114005288], [114009637, 114009796], [114018076, 114018225], [114018334, 114018366]]
NM_001286733 [[113978478, 113978892], [113999177, 113999274], [114005163, 114005288], [114009637, 114009796], [114018076, 114018225], [114018334, 114018463]] [[113978743, 113978892], [113999177, 113999274], [114005163, 114005288], [114009637, 114009796], [114018076, 114018225], [114018334, 114018366]]
NM_001286732 [[113979144, 113980161], [113980233, 113980406], [113999177, 113999274], [114005163, 114005288], [114009637, 114009796], [114018076, 114018225], [114018334, 114018463]] [[113979861, 113980161], [113980233, 113980406], [113999177, 113999274], [114005163, 114005288], [114009637, 114009796], [114018076, 114018225], [114018334, 114018366]]
Promoter
Chrom Start End Description
chr13 114018373 114018398 CAGE_peak_3_at_GRTP1_5end
chr13 114018400 114018452 CAGE_peak_1_at_GRTP1_5end
chr13 114018456 114018480 CAGE_peak_2_at_GRTP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I113214 113214607 113217416 1.45 [{'connected_gene': 'PROZ', 'score': 23.22}, {'connected_gene': 'GRTP1', 'score': 10.44}, {'connected_gene': 'ADPRHL1', 'score': 6.96}, {'connected_gene': 'PCID2', 'score': 5.41}, {'connected_gene': 'MCF2L', 'score': 4.19}, {'connected_gene': 'DCUN1D2', 'score': 3.03}, {'connected_gene': 'F10', 'score': 1.67}, {'connected_gene': 'CUL4A', 'score': 0.44}, {'connected_gene': 'PIR53444', 'score': 0.31}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113182 113182982 113189499 1.4 [{'connected_gene': 'PROZ', 'score': 26.95}, {'connected_gene': 'PCID2', 'score': 11.9}, {'connected_gene': 'CUL4A', 'score': 11.9}, {'connected_gene': 'F10-AS1', 'score': 11.03}, {'connected_gene': 'KARSP2', 'score': 11.03}, {'connected_gene': 'F10', 'score': 11.02}, {'connected_gene': 'GRTP1', 'score': 10.68}, {'connected_gene': 'F7', 'score': 10.66}, {'connected_gene': 'LAMP1', 'score': 10.6}, {'connected_gene': 'ENSG00000269356', 'score': 6.33}, {'connected_gene': 'ENSG00000269125', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113175 113175643 113181301 0.97 [{'connected_gene': 'PROZ', 'score': 27.49}, {'connected_gene': 'PCID2', 'score': 21.55}, {'connected_gene': 'CUL4A', 'score': 11.49}, {'connected_gene': 'F10-AS1', 'score': 11.2}, {'connected_gene': 'KARSP2', 'score': 11.2}, {'connected_gene': 'F10', 'score': 11.18}, {'connected_gene': 'F7', 'score': 10.69}, {'connected_gene': 'GRTP1', 'score': 10.67}, {'connected_gene': 'GRTP1-AS1', 'score': 10.56}, {'connected_gene': 'ENSG00000269356', 'score': 6.29}, {'connected_gene': 'ENSG00000269125', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113169 113169488 113171835 1.02 [{'connected_gene': 'PROZ', 'score': 15.68}, {'connected_gene': 'F10-AS1', 'score': 11.03}, {'connected_gene': 'KARSP2', 'score': 11.03}, {'connected_gene': 'F10', 'score': 11.02}, {'connected_gene': 'GRTP1', 'score': 9.89}, {'connected_gene': 'ENSG00000269125', 'score': 0.44}, {'connected_gene': 'CUL4A', 'score': 0.28}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113190 113190206 113191457 0.31 [{'connected_gene': 'PROZ', 'score': 26.73}, {'connected_gene': 'F10-AS1', 'score': 11.02}, {'connected_gene': 'KARSP2', 'score': 11.02}, {'connected_gene': 'F10', 'score': 11.01}, {'connected_gene': 'LAMP1', 'score': 10.61}, {'connected_gene': 'GRTP1-AS1', 'score': 10.6}, {'connected_gene': 'GRTP1', 'score': 10.6}, {'connected_gene': 'PCID2', 'score': 0.37}, {'connected_gene': 'CUL4A', 'score': 0.37}, {'connected_gene': 'ENSG00000269125', 'score': 0.31}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113192 113192491 113194481 0.74 [{'connected_gene': 'PROZ', 'score': 22.95}, {'connected_gene': 'GRTP1-AS1', 'score': 10.61}, {'connected_gene': 'GRTP1', 'score': 10.6}, {'connected_gene': 'LAMP1', 'score': 10.45}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.41}, {'connected_gene': 'DCUN1D2', 'score': 9.41}, {'connected_gene': 'CUL4A', 'score': 0.39}, {'connected_gene': 'PCID2', 'score': 0.37}, {'connected_gene': 'ENSG00000269125', 'score': 0.31}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113362 113362592 113365229 1.88 [{'connected_gene': 'GRTP1', 'score': 596.23}, {'connected_gene': 'UPF3A', 'score': 11.57}, {'connected_gene': 'GRTP1-AS1', 'score': 6.69}, {'connected_gene': 'GC13M113076', 'score': 0.1}]
chr13 GH13I113553 113553186 113553335 0.31 [{'connected_gene': 'GRTP1', 'score': 14.84}, {'connected_gene': 'DCUN1D2', 'score': 11.02}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.66}, {'connected_gene': 'GRTP1-AS1', 'score': 10.03}, {'connected_gene': 'ENSG00000276248', 'score': 0.31}, {'connected_gene': 'TFDP1', 'score': 0.29}, {'connected_gene': 'TMCO3', 'score': 0.21}]
chr13 GH13I113400 113400441 113402060 0.58 [{'connected_gene': 'GRTP1', 'score': 11.65}, {'connected_gene': 'GRTP1-AS1', 'score': 11.62}, {'connected_gene': 'DCUN1D2', 'score': 11.05}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.94}, {'connected_gene': 'PIR34234', 'score': 0.77}, {'connected_gene': 'LOC101928841', 'score': 0.37}, {'connected_gene': 'ADPRHL1', 'score': 0.23}, {'connected_gene': 'GC13M113076', 'score': 0.13}]
chr13 GH13I113399 113399846 113400109 0.4 [{'connected_gene': 'GRTP1', 'score': 11.65}, {'connected_gene': 'GRTP1-AS1', 'score': 11.62}, {'connected_gene': 'DCUN1D2', 'score': 11.04}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.94}, {'connected_gene': 'PIR34234', 'score': 0.77}, {'connected_gene': 'LOC101928841', 'score': 0.34}, {'connected_gene': 'ADPRHL1', 'score': 0.23}, {'connected_gene': 'GC13M113076', 'score': 0.13}]
chr13 GH13I113458 113458346 113458555 0.59 [{'connected_gene': 'GRTP1', 'score': 10.47}, {'connected_gene': 'GRTP1-AS1', 'score': 10.33}, {'connected_gene': 'TMCO3', 'score': 10.22}, {'connected_gene': 'DCUN1D2', 'score': 10.22}, {'connected_gene': 'ADPRHL1', 'score': 0.77}, {'connected_gene': 'DCUN1D2-AS', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.21}]
chr13 GH13I113390 113390726 113391665 0.54 [{'connected_gene': 'GRTP1', 'score': 16.62}, {'connected_gene': 'GRTP1-AS1', 'score': 11.26}, {'connected_gene': 'LAMP1', 'score': 11.16}, {'connected_gene': 'PIR34234', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.13}]
chr13 GH13I113407 113407766 113408318 0.49 [{'connected_gene': 'GRTP1', 'score': 11.17}, {'connected_gene': 'GRTP1-AS1', 'score': 10.9}, {'connected_gene': 'LOC101928841', 'score': 0.39}, {'connected_gene': 'PIR34234', 'score': 0.39}, {'connected_gene': 'ADPRHL1', 'score': 0.25}, {'connected_gene': 'GC13M113076', 'score': 0.14}]
chr13 GH13I113404 113404223 113407388 0.54 [{'connected_gene': 'GRTP1', 'score': 11.63}, {'connected_gene': 'GRTP1-AS1', 'score': 11.6}, {'connected_gene': 'DCUN1D2-AS', 'score': 11.06}, {'connected_gene': 'DCUN1D2', 'score': 11.05}, {'connected_gene': 'RASA3', 'score': 5.3}, {'connected_gene': 'PIR34234', 'score': 0.44}, {'connected_gene': 'LOC101928841', 'score': 0.37}, {'connected_gene': 'ADPRHL1', 'score': 0.25}, {'connected_gene': 'GC13M113076', 'score': 0.14}]
chr13 GH13I113358 113358488 113359440 0.2 [{'connected_gene': 'GRTP1', 'score': 36.15}, {'connected_gene': 'GRTP1-AS1', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.1}]
chr13 GH13I113355 113355771 113357773 0.31 [{'connected_gene': 'GRTP1', 'score': 26.08}, {'connected_gene': 'GRTP1-AS1', 'score': 5.6}, {'connected_gene': 'GC13M113076', 'score': 0.1}]
chr13 GH13I113408 113408736 113412929 1.55 [{'connected_gene': 'UPF3A', 'score': 12.68}, {'connected_gene': 'CDC16', 'score': 11.19}, {'connected_gene': 'ADPRHL1', 'score': 8.51}, {'connected_gene': 'TUBGCP3', 'score': 4.76}, {'connected_gene': 'GRTP1', 'score': 4.68}, {'connected_gene': 'MCF2L', 'score': 1.75}, {'connected_gene': 'LOC101928841', 'score': 0.39}, {'connected_gene': 'PIR34234', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.14}]
chr13 GH13I113393 113393189 113394675 1.25 [{'connected_gene': 'PCID2', 'score': 23.55}, {'connected_gene': 'CDC16', 'score': 22.08}, {'connected_gene': 'GRTP1', 'score': 16.38}, {'connected_gene': 'TUBGCP3', 'score': 16.31}, {'connected_gene': 'GRTP1-AS1', 'score': 11.63}, {'connected_gene': 'CUL4A', 'score': 10.52}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.13}, {'connected_gene': 'DCUN1D2', 'score': 10.09}, {'connected_gene': 'RASA3', 'score': 5.33}, {'connected_gene': 'PIR34234', 'score': 0.77}, {'connected_gene': 'GC13M113076', 'score': 0.13}]
chr13 GH13I113472 113472731 113472898 0.33 [{'connected_gene': 'TMCO3', 'score': 14.96}, {'connected_gene': 'DCUN1D2', 'score': 6.07}, {'connected_gene': 'GRTP1', 'score': 2.27}, {'connected_gene': 'DCUN1D2-AS', 'score': 0.77}, {'connected_gene': 'GC13M113479', 'score': 0.44}, {'connected_gene': 'RNU1-16P', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.25}]
chr13 GH13I113489 113489103 113496555 2.58 [{'connected_gene': 'TMCO3', 'score': 584.44}, {'connected_gene': 'DCUN1D2', 'score': 556.21}, {'connected_gene': 'TUBGCP3', 'score': 19.83}, {'connected_gene': 'PCID2', 'score': 14.74}, {'connected_gene': 'GRTP1', 'score': 13.18}, {'connected_gene': 'CDC16', 'score': 12.15}, {'connected_gene': 'DCUN1D2-AS', 'score': 11.64}, {'connected_gene': 'ADPRHL1', 'score': 11.09}, {'connected_gene': 'CHAMP1', 'score': 10.19}, {'connected_gene': 'GRTP1-AS1', 'score': 9.92}, {'connected_gene': 'F7', 'score': 6.31}, {'connected_gene': 'F10', 'score': 3.88}, {'connected_gene': 'PROZ', 'score': 2.93}, {'connected_gene': 'ENSG00000276916', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.31}]
chr13 GH13I113557 113557601 113557800 0.46 [{'connected_gene': 'TMCO3', 'score': 24.87}, {'connected_gene': 'DCUN1D2', 'score': 17.0}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.65}, {'connected_gene': 'GRTP1', 'score': 10.03}, {'connected_gene': 'GRTP1-AS1', 'score': 10.03}, {'connected_gene': 'TFDP1', 'score': 0.31}, {'connected_gene': 'ENSG00000276248', 'score': 0.29}]
chr13 GH13I113272 113272531 113275875 1.36 [{'connected_gene': 'LAMP1', 'score': 17.68}, {'connected_gene': 'PROZ', 'score': 15.87}, {'connected_gene': 'CUL4A', 'score': 11.96}, {'connected_gene': 'GRTP1', 'score': 11.29}, {'connected_gene': 'PCID2', 'score': 10.8}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.32}, {'connected_gene': 'DCUN1D2', 'score': 10.31}, {'connected_gene': 'LDHBP1', 'score': 0.77}, {'connected_gene': 'LOC105370377', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.07}]
chr13 GH13I113138 113138919 113139729 0.95 [{'connected_gene': 'F7', 'score': 11.5}, {'connected_gene': 'GRTP1-AS1', 'score': 10.33}, {'connected_gene': 'GRTP1', 'score': 10.33}, {'connected_gene': 'F10', 'score': 7.25}, {'connected_gene': 'KARSP2', 'score': 0.44}, {'connected_gene': 'LOC102724474', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113137 113137604 113138496 0.43 [{'connected_gene': 'F7', 'score': 11.5}, {'connected_gene': 'GRTP1-AS1', 'score': 10.33}, {'connected_gene': 'GRTP1', 'score': 10.33}, {'connected_gene': 'KARSP2', 'score': 0.44}, {'connected_gene': 'F10', 'score': 0.37}, {'connected_gene': 'LOC102724474', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113426 113426036 113426174 0.55 [{'connected_gene': 'ADPRHL1', 'score': 11.66}, {'connected_gene': 'GRTP1', 'score': 11.43}, {'connected_gene': 'GRTP1-AS1', 'score': 11.41}, {'connected_gene': 'DCUN1D2-AS', 'score': 11.3}, {'connected_gene': 'DCUN1D2', 'score': 11.25}, {'connected_gene': 'TMCO3', 'score': 10.66}, {'connected_gene': 'LOC101928841', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.16}]
chr13 GH13I113304 113304585 113305955 0.46 [{'connected_gene': 'GRTP1-AS1', 'score': 12.16}, {'connected_gene': 'GRTP1', 'score': 12.13}, {'connected_gene': 'PROZ', 'score': 10.07}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.81}, {'connected_gene': 'DCUN1D2', 'score': 9.8}, {'connected_gene': 'LAMP1', 'score': 0.44}, {'connected_gene': 'GC13P113323', 'score': 0.37}, {'connected_gene': 'PIR60275', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.08}]
chr13 GH13I113327 113327086 113328359 0.54 [{'connected_gene': 'GRTP1-AS1', 'score': 13.19}, {'connected_gene': 'GRTP1', 'score': 13.12}, {'connected_gene': 'LAMP1', 'score': 11.82}, {'connected_gene': 'F7', 'score': 10.3}, {'connected_gene': 'DCUN1D2', 'score': 10.04}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.82}, {'connected_gene': 'GC13P113323', 'score': 0.44}, {'connected_gene': 'PIR60275', 'score': 0.44}, {'connected_gene': 'ENSG00000276434', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.08}]
chr13 GH13I113376 113376195 113377535 0.2 [{'connected_gene': 'GRTP1-AS1', 'score': 11.97}, {'connected_gene': 'GRTP1', 'score': 0.39}, {'connected_gene': 'PIR34234', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.11}]
chr13 GH13I113351 113351026 113352008 0.43 [{'connected_gene': 'GRTP1-AS1', 'score': 550.77}, {'connected_gene': 'GRTP1', 'score': 11.89}, {'connected_gene': 'ENSG00000276434', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.1}]
chr13 GH13I113372 113372903 113373441 0.52 [{'connected_gene': 'GRTP1-AS1', 'score': 12.0}, {'connected_gene': 'GRTP1', 'score': 9.13}, {'connected_gene': 'PIR34234', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.11}]
chr13 GH13I113380 113380254 113380315 0.71 [{'connected_gene': 'GRTP1-AS1', 'score': 11.9}, {'connected_gene': 'GRTP1', 'score': 6.46}, {'connected_gene': 'PIR34234', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.11}]
chr13 GH13I113352 113350166 113350355 0.43 [{'connected_gene': 'GRTP1-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000276434', 'score': 0.39}, {'connected_gene': 'GRTP1', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.09}]
chr13 GH13I113350 113350730 113350735 0.2 [{'connected_gene': 'GRTP1-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000276434', 'score': 0.39}, {'connected_gene': 'GRTP1', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.09}]
chr13 GH13I113397 113397617 113398452 0.51 [{'connected_gene': 'PIR34234', 'score': 550.77}, {'connected_gene': 'GRTP1', 'score': 11.66}, {'connected_gene': 'GRTP1-AS1', 'score': 11.61}, {'connected_gene': 'PCID2', 'score': 10.52}, {'connected_gene': 'CUL4A', 'score': 10.52}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.13}, {'connected_gene': 'DCUN1D2', 'score': 10.09}, {'connected_gene': 'LOC101928841', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.13}]
chr13 GH13I113396 113396052 113397262 0.63 [{'connected_gene': 'PIR34234', 'score': 550.77}, {'connected_gene': 'GRTP1', 'score': 11.66}, {'connected_gene': 'GRTP1-AS1', 'score': 11.63}, {'connected_gene': 'PCID2', 'score': 10.52}, {'connected_gene': 'CUL4A', 'score': 10.52}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.13}, {'connected_gene': 'DCUN1D2', 'score': 10.09}, {'connected_gene': 'GC13M113076', 'score': 0.13}]
chr13 GH13I113398 113398968 113399583 0.86 [{'connected_gene': 'PIR34234', 'score': 550.77}, {'connected_gene': 'GRTP1', 'score': 11.65}, {'connected_gene': 'GRTP1-AS1', 'score': 11.62}, {'connected_gene': 'ADPRHL1', 'score': 11.25}, {'connected_gene': 'DCUN1D2', 'score': 11.04}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.94}, {'connected_gene': 'LOC101928841', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.13}]
chr13 GH13I113337 113337646 113337795 0.43 [{'connected_gene': 'ENSG00000276434', 'score': 0.77}, {'connected_gene': 'GC13P113323', 'score': 0.37}, {'connected_gene': 'PIR60275', 'score': 0.37}, {'connected_gene': 'GRTP1', 'score': 0.31}, {'connected_gene': 'GC13M113076', 'score': 0.09}]

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