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
ENST00000599704 [[48824765, 48825234], [48830086, 48830179], [48830777, 48830880], [48832608, 48832696]] [[48830101, 48830179], [48830777, 48830880], [48832608, 48832696]]
ENST00000270221 [[48828581, 48828867], [48830086, 48830179], [48830777, 48830880], [48832608, 48832749], [48833557, 48833810]] [[48830101, 48830179], [48830777, 48830880], [48832608, 48832749], [48833557, 48833727]]
ENST00000596315 [[48828603, 48828867], [48830777, 48830880], [48832608, 48832749], [48833557, 48833810]] [[48832634, 48832749], [48833557, 48833727]]
ENST00000594198 [[48828800, 48828867], [48832608, 48832749], [48833557, 48833612]] [[48832634, 48832749], [48833557, 48833612]]
ENST00000597529 [[48828803, 48828867], [48830086, 48830179], [48830777, 48831057]] None
ENST00000599255 [[48828817, 48828867], [48830086, 48830179], [48830777, 48830921], [48832608, 48832749], [48833557, 48833796]] [[48830101, 48830179], [48830777, 48830891]]
ENST00000597279 [[48828837, 48828867], [48829247, 48829310], [48830086, 48830179], [48830777, 48830880], [48832608, 48832749], [48833557, 48833810]] [[48830101, 48830179], [48830777, 48830880], [48832608, 48832749], [48833557, 48833727]]
ENST00000593437 [[48828864, 48828867], [48830086, 48830179], [48830777, 48830818], [48832608, 48832749], [48833557, 48833781]] [[48830101, 48830179], [48830777, 48830818], [48832608, 48832749], [48833557, 48833781]]
ENST00000597057 [[48832526, 48832749], [48833557, 48833740]] None
NM_001425 [[48828628, 48828867], [48830086, 48830179], [48830777, 48830880], [48832608, 48832749], [48833557, 48833810]] [[48830101, 48830179], [48830777, 48830880], [48832608, 48832749], [48833557, 48833727]]
NM_001313905 [[48829255, 48829310], [48830086, 48830179], [48830777, 48830880], [48832608, 48832749], [48833557, 48833810]] [[48830101, 48830179], [48830777, 48830880], [48832608, 48832749], [48833557, 48833727]]
Promoter
Chrom Start End Description
chr19 48828539 48828550 CAGE_peak_4_at_EMP3_5end
chr19 48828606 48828637 CAGE_peak_2_at_EMP3_5end
chr19 48828647 48828658 CAGE_peak_3_at_EMP3_5end
chr19 48828788 48828853 CAGE_peak_1_at_EMP3_5end
chr19 48830069 48830089 CAGE_peak_5_at_EMP3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I048290 48290128 48291993 1.1 [{'connected_gene': 'CCDC114', 'score': 35.09}, {'connected_gene': 'SYNGR4', 'score': 11.71}, {'connected_gene': 'TMEM143', 'score': 11.71}, {'connected_gene': 'GC19P048288', 'score': 0.77}, {'connected_gene': 'EMP3', 'score': 0.29}]
chr19 GH19I048344 48344837 48345531 0.63 [{'connected_gene': 'CCDC114', 'score': 17.09}, {'connected_gene': 'EMP3', 'score': 8.77}, {'connected_gene': 'TMEM143', 'score': 0.37}]
chr19 GH19I048319 48319834 48328049 2.31 [{'connected_gene': 'CCDC114', 'score': 561.54}, {'connected_gene': 'EMP3', 'score': 560.38}, {'connected_gene': 'KDELR1', 'score': 21.08}, {'connected_gene': 'SNORD23', 'score': 20.83}, {'connected_gene': 'NOP53', 'score': 20.81}, {'connected_gene': 'RPL18', 'score': 20.3}, {'connected_gene': 'BICRA', 'score': 17.58}, {'connected_gene': 'GRWD1', 'score': 12.96}, {'connected_gene': 'NOP53-AS1', 'score': 11.68}, {'connected_gene': 'TMEM143', 'score': 11.64}, {'connected_gene': 'SNRNP70', 'score': 11.38}, {'connected_gene': 'BAX', 'score': 11.31}, {'connected_gene': 'ENSG00000268746', 'score': 9.8}, {'connected_gene': 'CARD8-AS1', 'score': 6.36}, {'connected_gene': 'GRIN2D', 'score': 5.54}]
chr19 GH19I048314 48314401 48314801 0.88 [{'connected_gene': 'CCDC114', 'score': 21.26}, {'connected_gene': 'EMP3', 'score': 0.44}, {'connected_gene': 'GC19P048288', 'score': 0.31}]
chr19 GH19I048316 48316804 48317845 0.7 [{'connected_gene': 'CCDC114', 'score': 39.65}, {'connected_gene': 'EMP3', 'score': 0.77}, {'connected_gene': 'GC19P048288', 'score': 0.31}]
chr19 GH19I048308 48308433 48311580 1.25 [{'connected_gene': 'CCDC114', 'score': 26.81}, {'connected_gene': 'KDELR1', 'score': 15.76}, {'connected_gene': 'NOP53', 'score': 12.84}, {'connected_gene': 'NOP53-AS1', 'score': 11.13}, {'connected_gene': 'CYTH2', 'score': 10.63}, {'connected_gene': 'RPL18', 'score': 10.34}, {'connected_gene': 'BAX', 'score': 10.11}, {'connected_gene': 'BICRA', 'score': 9.86}, {'connected_gene': 'GRWD1', 'score': 9.76}, {'connected_gene': 'ZNF114', 'score': 5.57}, {'connected_gene': 'EMP3', 'score': 0.39}, {'connected_gene': 'GC19P048288', 'score': 0.34}]
chr19 GH19I048106 48106964 48108657 1.67 [{'connected_gene': 'PLA2G4C', 'score': 18.3}, {'connected_gene': 'EMP3', 'score': 1.42}, {'connected_gene': 'PLA2G4C-AS1', 'score': 0.25}]
chr19 GH19I048612 48612880 48620644 2.54 [{'connected_gene': 'RPL18', 'score': 581.93}, {'connected_gene': 'FAM83E', 'score': 550.77}, {'connected_gene': 'SPHK2', 'score': 550.77}, {'connected_gene': 'PIR55128', 'score': 550.77}, {'connected_gene': 'PRR12', 'score': 62.9}, {'connected_gene': 'PIH1D1', 'score': 50.83}, {'connected_gene': 'SNORD35A', 'score': 49.34}, {'connected_gene': 'SNORD35B', 'score': 46.26}, {'connected_gene': 'ALDH16A1', 'score': 43.9}, {'connected_gene': 'KDELR1', 'score': 40.71}, {'connected_gene': 'NOP53-AS1', 'score': 40.61}, {'connected_gene': 'RPS11', 'score': 35.53}, {'connected_gene': 'NOP53', 'score': 34.4}, {'connected_gene': 'RPL13A', 'score': 29.8}, {'connected_gene': 'SNORD23', 'score': 29.51}, {'connected_gene': 'GRWD1', 'score': 22.23}, {'connected_gene': 'FLT3LG', 'score': 19.93}, {'connected_gene': 'FUT2', 'score': 17.68}, {'connected_gene': 'ENSG00000268093', 'score': 15.81}, {'connected_gene': 'SEC1P', 'score': 15.14}, {'connected_gene': 'CYTH2', 'score': 12.19}, {'connected_gene': 'BAX', 'score': 11.34}, {'connected_gene': 'EMP3', 'score': 10.25}, {'connected_gene': 'HRC', 'score': 4.62}, {'connected_gene': 'PRRG2', 'score': 4.57}]
chr19 GH19I048362 48362644 48365341 2.08 [{'connected_gene': 'TMEM143', 'score': 556.66}, {'connected_gene': 'SYNGR4', 'score': 550.77}, {'connected_gene': 'KDELR1', 'score': 21.0}, {'connected_gene': 'BAX', 'score': 20.22}, {'connected_gene': 'CCDC114', 'score': 19.91}, {'connected_gene': 'GRWD1', 'score': 19.21}, {'connected_gene': 'BICRA', 'score': 13.42}, {'connected_gene': 'SNORD23', 'score': 12.91}, {'connected_gene': 'TRPM4', 'score': 12.59}, {'connected_gene': 'RPL18', 'score': 11.5}, {'connected_gene': 'NOP53', 'score': 10.1}, {'connected_gene': 'ENSG00000268746', 'score': 9.8}, {'connected_gene': 'EMP3', 'score': 8.0}]
chr19 GH19I048328 48328771 48334560 2.02 [{'connected_gene': 'BICRA', 'score': 38.68}, {'connected_gene': 'GRWD1', 'score': 34.32}, {'connected_gene': 'TMEM143', 'score': 24.42}, {'connected_gene': 'SNRNP70', 'score': 23.11}, {'connected_gene': 'NOP53-AS1', 'score': 22.72}, {'connected_gene': 'CA11', 'score': 14.74}, {'connected_gene': 'NOP53', 'score': 13.39}, {'connected_gene': 'KDELR1', 'score': 12.91}, {'connected_gene': 'RPL18', 'score': 12.9}, {'connected_gene': 'ZSWIM9', 'score': 12.76}, {'connected_gene': 'SYNGR4', 'score': 12.66}, {'connected_gene': 'EMP3', 'score': 11.33}, {'connected_gene': 'RUVBL2', 'score': 11.11}, {'connected_gene': 'RASIP1', 'score': 10.93}, {'connected_gene': 'SLC8A2', 'score': 10.63}, {'connected_gene': 'CYTH2', 'score': 10.44}, {'connected_gene': 'SNORD23', 'score': 10.4}, {'connected_gene': 'HSD17B14', 'score': 10.23}, {'connected_gene': 'CCDC114', 'score': 7.78}, {'connected_gene': 'CARD8', 'score': 7.55}, {'connected_gene': 'GRIN2D', 'score': 5.47}, {'connected_gene': 'ZNF114', 'score': 4.95}, {'connected_gene': 'CARD8-AS1', 'score': 4.93}, {'connected_gene': 'IZUMO1', 'score': 1.54}]
chr19 GH19I048395 48395557 48401881 1.55 [{'connected_gene': 'KDELR1', 'score': 572.99}, {'connected_gene': 'NOP53-AS1', 'score': 43.24}, {'connected_gene': 'GRWD1', 'score': 42.81}, {'connected_gene': 'BICRA', 'score': 42.43}, {'connected_gene': 'NOP53', 'score': 21.98}, {'connected_gene': 'CYTH2', 'score': 20.28}, {'connected_gene': 'SNORD23', 'score': 17.8}, {'connected_gene': 'ENSG00000268746', 'score': 13.12}, {'connected_gene': 'CCDC114', 'score': 12.37}, {'connected_gene': 'TEAD2', 'score': 12.15}, {'connected_gene': 'SNRNP70', 'score': 11.99}, {'connected_gene': 'EHD2', 'score': 11.96}, {'connected_gene': 'ENSG00000268157', 'score': 11.56}, {'connected_gene': 'GRIN2D', 'score': 11.18}, {'connected_gene': 'BAX', 'score': 11.03}, {'connected_gene': 'CARD8', 'score': 10.97}, {'connected_gene': 'PPP1R15A', 'score': 4.73}, {'connected_gene': 'CARD8-AS1', 'score': 4.56}, {'connected_gene': 'EMP3', 'score': 1.74}, {'connected_gene': 'FUT1', 'score': 1.46}, {'connected_gene': 'IZUMO1', 'score': 1.26}]
chr19 GH19I048338 48338142 48339909 0.63 [{'connected_gene': 'NOP53-AS1', 'score': 17.03}, {'connected_gene': 'GRWD1', 'score': 14.74}, {'connected_gene': 'BICRA', 'score': 10.07}, {'connected_gene': 'CYTH2', 'score': 9.83}, {'connected_gene': 'EMP3', 'score': 8.69}, {'connected_gene': 'CCDC114', 'score': 7.72}, {'connected_gene': 'TMEM143', 'score': 0.31}]
chr19 GH19I048253 48253907 48260996 2.58 [{'connected_gene': 'CARD8-AS1', 'score': 577.53}, {'connected_gene': 'CARD8', 'score': 562.69}, {'connected_gene': 'BICRA', 'score': 43.45}, {'connected_gene': 'KDELR1', 'score': 40.11}, {'connected_gene': 'GRWD1', 'score': 35.94}, {'connected_gene': 'SNRNP70', 'score': 35.52}, {'connected_gene': 'NOP53-AS1', 'score': 33.84}, {'connected_gene': 'NOP53', 'score': 32.35}, {'connected_gene': 'RPL18', 'score': 31.33}, {'connected_gene': 'SNORD23', 'score': 29.47}, {'connected_gene': 'PLA2G4C', 'score': 15.25}, {'connected_gene': 'RASIP1', 'score': 12.96}, {'connected_gene': 'BAX', 'score': 11.31}, {'connected_gene': 'TMEM143', 'score': 11.16}, {'connected_gene': 'SYNGR4', 'score': 11.16}, {'connected_gene': 'ENSG00000268746', 'score': 9.8}, {'connected_gene': 'CCDC114', 'score': 6.08}, {'connected_gene': 'EMP3', 'score': 3.78}, {'connected_gene': 'IZUMO1', 'score': 3.37}, {'connected_gene': 'CYTH2', 'score': 2.22}, {'connected_gene': 'ZNF114', 'score': 0.39}]
chr19 GH19I048292 48292800 48293200 0.38 [{'connected_gene': 'GC19P048288', 'score': 0.77}, {'connected_gene': 'EMP3', 'score': 0.31}]

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