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
ENST00000587486 [[13049391, 13050049], [13050241, 13050445], [13050866, 13050961]] None
ENST00000316448 [[13049420, 13049584], [13049947, 13050049], [13050241, 13050445], [13050866, 13050961], [13051056, 13051266], [13051354, 13051468], [13051557, 13051701], [13054350, 13054443], [13054526, 13055303]] [[13049493, 13049584], [13049947, 13050049], [13050241, 13050445], [13050866, 13050961], [13051056, 13051266], [13051354, 13051468], [13051557, 13051701], [13054350, 13054443], [13054526, 13054727]]
ENST00000590325 [[13049427, 13049584], [13049947, 13050049], [13050241, 13050445], [13050866, 13051184]] None
ENST00000588454 [[13049458, 13049584], [13049947, 13050049], [13050866, 13050961], [13051056, 13051266], [13051354, 13051468], [13051557, 13051686]] [[13049493, 13049584], [13049947, 13050049], [13050866, 13050961], [13051056, 13051266], [13051354, 13051468], [13051557, 13051686]]
ENST00000586760 [[13051210, 13051266], [13051354, 13051468], [13051557, 13051701], [13054350, 13054443], [13054526, 13054570], [13054755, 13055217]] [[13051210, 13051266], [13051354, 13051468], [13051557, 13051701], [13054350, 13054443], [13054526, 13054570], [13054755, 13054795]]
ENST00000586803 [[13054026, 13054443], [13054526, 13054776]] None
ENST00000586967 [[13054686, 13054802], [13055025, 13055303]] [[13054686, 13054727]]
NM_004343 [[13049413, 13049584], [13049947, 13050049], [13050241, 13050445], [13050866, 13050961], [13051056, 13051266], [13051354, 13051468], [13051557, 13051701], [13054350, 13054443], [13054526, 13055304]] [[13049493, 13049584], [13049947, 13050049], [13050241, 13050445], [13050866, 13050961], [13051056, 13051266], [13051354, 13051468], [13051557, 13051701], [13054350, 13054443], [13054526, 13054727]]
Promoter
Chrom Start End Description
chr19 13049413 13049432 CAGE_peak_1_at_CALR_5end
chr19 13049939 13049976 CAGE_peak_11_at_CALR_5end
chr19 13049990 13050022 CAGE_peak_16_at_CALR_5end
chr19 13050317 13050410 CAGE_peak_2_at_CALR_5end
chr19 13050879 13050931 CAGE_peak_10_at_CALR_5end
chr19 13051052 13051073 CAGE_peak_12_at_CALR_5end
chr19 13051092 13051103 CAGE_peak_17_at_CALR_5end
chr19 13051106 13051123 CAGE_peak_4_at_CALR_5end
chr19 13051128 13051144 CAGE_peak_15_at_CALR_5end
chr19 13051152 13051172 CAGE_peak_8_at_CALR_5end
chr19 13051206 13051244 CAGE_peak_5_at_CALR_5end
chr19 13054338 13054381 CAGE_peak_7_at_CALR_5end
chr19 13054383 13054423 CAGE_peak_6_at_CALR_5end
chr19 13054556 13054630 CAGE_peak_3_at_CALR_5end
chr19 13054632 13054644 CAGE_peak_19_at_CALR_5end
chr19 13054647 13054681 CAGE_peak_9_at_CALR_5end
chr19 13054682 13054702 CAGE_peak_14_at_CALR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I012936 12936207 12942056 2.53 [{'connected_gene': 'CALR', 'score': 555.51}, {'connected_gene': 'MIR6515', 'score': 550.77}, {'connected_gene': 'ZNF136', 'score': 57.57}, {'connected_gene': 'CCDC130', 'score': 52.99}, {'connected_gene': 'TRMT1', 'score': 51.14}, {'connected_gene': 'ZNF625', 'score': 49.17}, {'connected_gene': 'RPS6P25', 'score': 44.83}, {'connected_gene': 'ZNF44', 'score': 40.31}, {'connected_gene': 'ZNF844', 'score': 35.87}, {'connected_gene': 'ZNF564', 'score': 35.55}, {'connected_gene': 'ZNF763', 'score': 34.94}, {'connected_gene': 'ZNF791', 'score': 34.84}, {'connected_gene': 'ZNF442', 'score': 34.74}, {'connected_gene': 'WDR83OS', 'score': 32.79}, {'connected_gene': 'ZNF799', 'score': 32.65}, {'connected_gene': 'ZNF788', 'score': 31.1}, {'connected_gene': 'ZNF20', 'score': 29.72}, {'connected_gene': 'TRIR', 'score': 27.51}, {'connected_gene': 'MRI1', 'score': 24.11}, {'connected_gene': 'ZNF878', 'score': 22.75}, {'connected_gene': 'DHPS', 'score': 22.36}, {'connected_gene': 'GCDH', 'score': 16.65}, {'connected_gene': 'ZNF709', 'score': 13.53}, {'connected_gene': 'ENSG00000242615', 'score': 13.31}, {'connected_gene': 'ENSG00000267274', 'score': 11.95}, {'connected_gene': 'ZNF433-AS1', 'score': 11.19}, {'connected_gene': 'ZNF433', 'score': 10.83}, {'connected_gene': 'MAN2B1', 'score': 10.31}, {'connected_gene': 'ZNF563', 'score': 10.17}, {'connected_gene': 'SYCE2', 'score': 10.03}]
chr19 GH19I012943 12943504 12950335 2.3 [{'connected_gene': 'RAD23A', 'score': 550.77}, {'connected_gene': 'CCDC130', 'score': 30.87}, {'connected_gene': 'ZNF564', 'score': 29.25}, {'connected_gene': 'WDR83OS', 'score': 24.59}, {'connected_gene': 'ZNF136', 'score': 23.47}, {'connected_gene': 'TRIR', 'score': 19.38}, {'connected_gene': 'MRI1', 'score': 18.98}, {'connected_gene': 'ZNF799', 'score': 18.79}, {'connected_gene': 'GCDH', 'score': 16.47}, {'connected_gene': 'ZNF44', 'score': 12.79}, {'connected_gene': 'ZNF442', 'score': 12.76}, {'connected_gene': 'ZNF878', 'score': 12.72}, {'connected_gene': 'ZNF433-AS1', 'score': 11.2}, {'connected_gene': 'MAN2B1', 'score': 10.58}, {'connected_gene': 'ZNF20', 'score': 10.22}, {'connected_gene': 'ZNF844', 'score': 10.02}, {'connected_gene': 'RPS6P25', 'score': 9.9}, {'connected_gene': 'TRMT1', 'score': 9.84}, {'connected_gene': 'ZNF763', 'score': 9.65}, {'connected_gene': 'HOOK2', 'score': 6.16}, {'connected_gene': 'CALR', 'score': 5.15}, {'connected_gene': 'ENSG00000267458', 'score': 0.77}, {'connected_gene': 'GADD45GIP1', 'score': 0.39}]
chr19 GH19I013011 13011600 13028789 2.76 [{'connected_gene': 'NFIX', 'score': 566.3}, {'connected_gene': 'ZNF136', 'score': 48.3}, {'connected_gene': 'ZNF709', 'score': 47.13}, {'connected_gene': 'ZNF791', 'score': 43.3}, {'connected_gene': 'TRMT1', 'score': 42.99}, {'connected_gene': 'CCDC130', 'score': 38.84}, {'connected_gene': 'MRI1', 'score': 36.72}, {'connected_gene': 'ZNF44', 'score': 34.35}, {'connected_gene': 'ZNF564', 'score': 32.98}, {'connected_gene': 'ZNF625', 'score': 31.23}, {'connected_gene': 'ZNF442', 'score': 30.86}, {'connected_gene': 'ZNF844', 'score': 28.29}, {'connected_gene': 'WDR83OS', 'score': 28.26}, {'connected_gene': 'ZNF788', 'score': 27.62}, {'connected_gene': 'ZNF20', 'score': 24.46}, {'connected_gene': 'ZNF799', 'score': 23.33}, {'connected_gene': 'ZNF433', 'score': 22.78}, {'connected_gene': 'TRIR', 'score': 22.07}, {'connected_gene': 'ENSG00000242615', 'score': 21.61}, {'connected_gene': 'ZNF878', 'score': 19.37}, {'connected_gene': 'RFX1', 'score': 18.24}, {'connected_gene': 'SYCE2', 'score': 13.74}, {'connected_gene': 'RPS6P25', 'score': 13.09}, {'connected_gene': 'DAND5', 'score': 13.04}, {'connected_gene': 'GADD45GIP1', 'score': 13.02}, {'connected_gene': 'DHPS', 'score': 11.97}, {'connected_gene': 'LYL1', 'score': 11.97}, {'connected_gene': 'NACC1', 'score': 11.94}, {'connected_gene': 'NANOS3', 'score': 11.52}, {'connected_gene': 'ZNF490', 'score': 10.77}, {'connected_gene': 'ENSG00000248406', 'score': 10.3}, {'connected_gene': 'TNPO2', 'score': 10.02}, {'connected_gene': 'FBXW9', 'score': 9.82}, {'connected_gene': 'MAN2B1', 'score': 9.79}, {'connected_gene': 'GCDH', 'score': 5.84}, {'connected_gene': 'CALR', 'score': 5.83}, {'connected_gene': 'DNASE2', 'score': 5.37}, {'connected_gene': 'MAST1', 'score': 2.22}, {'connected_gene': 'WDR83', 'score': 1.44}, {'connected_gene': 'CACNA1A', 'score': 1.39}, {'connected_gene': 'PIR45233', 'score': 0.77}, {'connected_gene': 'GC19M013014', 'score': 0.44}, {'connected_gene': 'ENSG00000267417', 'score': 0.44}]
chr19 GH19I013089 13089102 13106360 2.3 [{'connected_gene': 'LYL1', 'score': 555.2}, {'connected_gene': 'PIR62376', 'score': 550.77}, {'connected_gene': 'ZNF136', 'score': 33.24}, {'connected_gene': 'CCDC130', 'score': 26.34}, {'connected_gene': 'TRMT1', 'score': 25.08}, {'connected_gene': 'ZNF799', 'score': 24.79}, {'connected_gene': 'ZNF625', 'score': 23.08}, {'connected_gene': 'RPS6P25', 'score': 21.5}, {'connected_gene': 'ZNF564', 'score': 21.46}, {'connected_gene': 'ZNF442', 'score': 21.1}, {'connected_gene': 'WDR83OS', 'score': 19.75}, {'connected_gene': 'ZNF791', 'score': 18.9}, {'connected_gene': 'RNASEH2A', 'score': 18.14}, {'connected_gene': 'RFX1', 'score': 18.12}, {'connected_gene': 'MRI1', 'score': 18.09}, {'connected_gene': 'DCAF15', 'score': 17.08}, {'connected_gene': 'ZNF44', 'score': 15.33}, {'connected_gene': 'ENSG00000242615', 'score': 15.03}, {'connected_gene': 'ZNF709', 'score': 14.54}, {'connected_gene': 'TRIR', 'score': 14.12}, {'connected_gene': 'ZNF563', 'score': 11.24}, {'connected_gene': 'LOC284454', 'score': 10.53}, {'connected_gene': 'RPL28P5', 'score': 10.46}, {'connected_gene': 'MAN2B1', 'score': 9.79}, {'connected_gene': 'DHPS', 'score': 9.72}, {'connected_gene': 'CALR', 'score': 4.86}, {'connected_gene': 'GCDH', 'score': 4.63}, {'connected_gene': 'GC19M013101', 'score': 0.77}, {'connected_gene': 'PIR31062', 'score': 0.77}, {'connected_gene': 'LOC105372282', 'score': 0.44}, {'connected_gene': 'NFIX', 'score': 0.15}]
chr19 GH19I013038 13038824 13039138 0.31 [{'connected_gene': 'LYL1', 'score': 11.84}, {'connected_gene': 'NACC1', 'score': 11.81}, {'connected_gene': 'TRMT1', 'score': 11.81}, {'connected_gene': 'STX10', 'score': 11.44}, {'connected_gene': 'IER2', 'score': 11.44}, {'connected_gene': 'CALR', 'score': 4.44}, {'connected_gene': 'PIR45233', 'score': 0.37}, {'connected_gene': 'ENSG00000267610', 'score': 0.29}, {'connected_gene': 'NFIX', 'score': 0.26}]
chr19 GH19I013062 13062478 13065399 0.83 [{'connected_gene': 'LYL1', 'score': 12.8}, {'connected_gene': 'NACC1', 'score': 12.76}, {'connected_gene': 'TRMT1', 'score': 12.76}, {'connected_gene': 'CALR', 'score': 4.71}, {'connected_gene': 'ENSG00000267610', 'score': 0.44}, {'connected_gene': 'PIR45233', 'score': 0.26}, {'connected_gene': 'NFIX', 'score': 0.2}]
chr19 GH19I013050 13050235 13062320 2.09 [{'connected_gene': 'LYL1', 'score': 12.77}, {'connected_gene': 'NACC1', 'score': 12.74}, {'connected_gene': 'TRMT1', 'score': 12.74}, {'connected_gene': 'MAST1', 'score': 10.9}, {'connected_gene': 'STX10', 'score': 6.47}, {'connected_gene': 'CALR', 'score': 5.68}, {'connected_gene': 'GCDH', 'score': 4.26}, {'connected_gene': 'ENSG00000267610', 'score': 0.37}, {'connected_gene': 'PIR45233', 'score': 0.29}, {'connected_gene': 'NFIX', 'score': 0.21}]
chr19 GH19I013006 13005064 13005482 0.38 [{'connected_gene': 'GCDH', 'score': 8.46}, {'connected_gene': 'CALR', 'score': 4.99}, {'connected_gene': 'GC19M012993', 'score': 0.44}, {'connected_gene': 'ENSG00000267417', 'score': 0.44}, {'connected_gene': 'NFIX', 'score': 0.44}]
chr19 GH19I012880 12880518 12886604 2.74 [{'connected_gene': 'DNASE2', 'score': 588.37}, {'connected_gene': 'MAN2B1', 'score': 5.26}, {'connected_gene': 'CALR', 'score': 4.96}, {'connected_gene': 'KLF1', 'score': 3.21}, {'connected_gene': 'ZNF490', 'score': 1.26}, {'connected_gene': 'LYL1', 'score': 1.22}, {'connected_gene': 'ENSG00000267735', 'score': 0.77}]
chr19 GH19I013005 13005702 13009526 1.06 [{'connected_gene': 'LOC105372278', 'score': 14.77}, {'connected_gene': 'ZNF709', 'score': 12.63}, {'connected_gene': 'ENSG00000268945', 'score': 10.81}, {'connected_gene': 'ENSG00000242615', 'score': 10.7}, {'connected_gene': 'ZNF788', 'score': 9.73}, {'connected_gene': 'CALR', 'score': 4.8}, {'connected_gene': 'ENSG00000267417', 'score': 0.44}, {'connected_gene': 'GC19M012993', 'score': 0.39}, {'connected_gene': 'NFIX', 'score': 0.39}]
chr19 GH19I012994 12994818 12999078 2.17 [{'connected_gene': 'GC19M012993', 'score': 550.77}, {'connected_gene': 'NFIX', 'score': 550.77}, {'connected_gene': 'ZNF20', 'score': 32.23}, {'connected_gene': 'RNASEH2A', 'score': 28.3}, {'connected_gene': 'DCAF15', 'score': 27.11}, {'connected_gene': 'TRMT1', 'score': 26.88}, {'connected_gene': 'ZNF136', 'score': 24.66}, {'connected_gene': 'ZNF44', 'score': 20.1}, {'connected_gene': 'RPL28P5', 'score': 19.43}, {'connected_gene': 'ZNF799', 'score': 19.09}, {'connected_gene': 'ZNF490', 'score': 16.01}, {'connected_gene': 'ZNF433', 'score': 13.34}, {'connected_gene': 'ZNF442', 'score': 12.62}, {'connected_gene': 'ZNF844', 'score': 11.35}, {'connected_gene': 'CCDC130', 'score': 11.03}, {'connected_gene': 'ZNF625', 'score': 11.02}, {'connected_gene': 'ZNF563', 'score': 10.52}, {'connected_gene': 'FBXW9', 'score': 10.47}, {'connected_gene': 'ENSG00000242615', 'score': 9.73}, {'connected_gene': 'GCDH', 'score': 6.77}, {'connected_gene': 'WDR83OS', 'score': 6.37}, {'connected_gene': 'CALR', 'score': 5.32}, {'connected_gene': 'RPL12P42', 'score': 5.19}, {'connected_gene': 'ENSG00000267417', 'score': 0.37}]
chr19 GH19I012944 12942277 12942745 0.43 [{'connected_gene': 'ENSG00000267458', 'score': 550.77}, {'connected_gene': 'GCDH', 'score': 16.65}, {'connected_gene': 'MIR6515', 'score': 0.77}, {'connected_gene': 'CALR', 'score': 0.77}]
chr19 GH19I012942 12942907 12943056 0.49 [{'connected_gene': 'ENSG00000267458', 'score': 550.77}, {'connected_gene': 'MIR6515', 'score': 0.77}, {'connected_gene': 'CALR', 'score': 0.77}]

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