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
ENST00000280606 [[31094745, 31095130], [31095439, 31095656], [31095878, 31096024], [31096100, 31096345], [31096430, 31096581], [31097284, 31097504], [31097657, 31097812], [31097953, 31098219], [31098857, 31099020], [31099126, 31099147], [31100072, 31100284]] [[31095110, 31095130], [31095439, 31095656], [31095878, 31096024], [31096100, 31096345], [31096430, 31096581], [31097284, 31097504], [31097657, 31097812], [31097953, 31098219], [31098857, 31099020], [31099126, 31099147], [31100072, 31100130]]
ENST00000486499 [[31094757, 31096581], [31097284, 31100949]] None
ENST00000492427 [[31097335, 31097504], [31097657, 31097812], [31097953, 31098219], [31098857, 31100049]] None
NM_001039503 [[31094744, 31095130], [31095439, 31095656], [31095878, 31096024], [31096100, 31096345], [31096430, 31096581], [31097284, 31097504], [31097657, 31097812], [31097953, 31098219], [31098857, 31099020], [31099126, 31099147], [31100072, 31100130]] [[31095110, 31095130], [31095439, 31095656], [31095878, 31096024], [31096100, 31096345], [31096430, 31096581], [31097284, 31097504], [31097657, 31097812], [31097953, 31098219], [31098857, 31099020], [31099126, 31099147], [31100072, 31100130]]
Promoter
Chrom Start End Description
chr16 31106211 31106315 CAGE_peak_1_at_PRSS53_5end,CAGE_peak_2_at_VKORC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I031093 31092613 31096569 2.1 [{'connected_gene': 'VKORC1', 'score': 559.46}, {'connected_gene': 'ENSG00000280160', 'score': 550.77}, {'connected_gene': 'ENSG00000255439', 'score': 550.77}, {'connected_gene': 'SETD1A', 'score': 69.32}, {'connected_gene': 'ZNF785', 'score': 63.38}, {'connected_gene': 'ZNF720', 'score': 56.93}, {'connected_gene': 'FUS', 'score': 56.81}, {'connected_gene': 'ZNF689', 'score': 49.4}, {'connected_gene': 'SRCAP', 'score': 48.16}, {'connected_gene': 'ZNF747', 'score': 42.01}, {'connected_gene': 'ZNF764', 'score': 40.19}, {'connected_gene': 'C16orf58', 'score': 39.29}, {'connected_gene': 'NPIPB13', 'score': 35.64}, {'connected_gene': 'MIR762HG', 'score': 30.5}, {'connected_gene': 'KAT8', 'score': 30.28}, {'connected_gene': 'ZNF646', 'score': 29.08}, {'connected_gene': 'FBRS', 'score': 23.92}, {'connected_gene': 'ZNF688', 'score': 20.67}, {'connected_gene': 'ENSG00000260267', 'score': 19.81}, {'connected_gene': 'RNF40', 'score': 19.17}, {'connected_gene': 'ENSG00000262766', 'score': 19.01}, {'connected_gene': 'PRSS53', 'score': 14.06}, {'connected_gene': 'BCL7C', 'score': 12.2}, {'connected_gene': 'ENSG00000260304', 'score': 12.08}, {'connected_gene': 'ENSG00000261474', 'score': 11.86}, {'connected_gene': 'LOC730183', 'score': 10.98}, {'connected_gene': 'HSD3B7', 'score': 10.11}, {'connected_gene': 'ARMC5', 'score': 10.02}, {'connected_gene': 'ZNF629', 'score': 9.73}]
chr16 GH16I031090 31090576 31091397 0.56 [{'connected_gene': 'PRSS53', 'score': 550.77}, {'connected_gene': 'KAT8', 'score': 19.28}, {'connected_gene': 'ENSG00000255439', 'score': 0.77}, {'connected_gene': 'ENSG00000280160', 'score': 0.77}, {'connected_gene': 'VKORC1', 'score': 0.44}]
chr16 GH16I031088 31088953 31089012 0.76 [{'connected_gene': 'PRSS53', 'score': 550.77}, {'connected_gene': 'PIR60151', 'score': 0.77}, {'connected_gene': 'GC16P031249', 'score': 0.77}, {'connected_gene': 'ENSG00000255439', 'score': 0.44}]
chr16 GH16I030872 30872255 30877514 1.93 [{'connected_gene': 'MIR762HG', 'score': 563.42}, {'connected_gene': 'MIR4519', 'score': 550.77}, {'connected_gene': 'RNF40', 'score': 57.05}, {'connected_gene': 'INO80E', 'score': 50.99}, {'connected_gene': 'ENSG00000260267', 'score': 49.69}, {'connected_gene': 'SETD1A', 'score': 48.11}, {'connected_gene': 'FUS', 'score': 47.36}, {'connected_gene': 'BCL7C', 'score': 46.14}, {'connected_gene': 'FBRS', 'score': 39.32}, {'connected_gene': 'SRCAP', 'score': 37.51}, {'connected_gene': 'SMG1P5', 'score': 35.94}, {'connected_gene': 'PRR14', 'score': 33.52}, {'connected_gene': 'ZNF720', 'score': 29.0}, {'connected_gene': 'ZNF764', 'score': 25.74}, {'connected_gene': 'ENSG00000260304', 'score': 23.72}, {'connected_gene': 'SLX1A', 'score': 23.1}, {'connected_gene': 'ZNF646', 'score': 22.96}, {'connected_gene': 'CCDC189', 'score': 22.85}, {'connected_gene': 'ZNF629', 'score': 22.67}, {'connected_gene': 'ENSG00000260625', 'score': 22.4}, {'connected_gene': 'ZNF747', 'score': 21.9}, {'connected_gene': 'C16orf58', 'score': 21.57}, {'connected_gene': 'PPP4C', 'score': 20.21}, {'connected_gene': 'ENSG00000262766', 'score': 19.14}, {'connected_gene': 'HSD3B7', 'score': 19.05}, {'connected_gene': 'KAT8', 'score': 17.87}, {'connected_gene': 'ZNF785', 'score': 16.64}, {'connected_gene': 'ZNF771', 'score': 13.08}, {'connected_gene': 'STX4', 'score': 12.55}, {'connected_gene': 'CTF1', 'score': 12.3}, {'connected_gene': 'GDPD3', 'score': 11.59}, {'connected_gene': 'ZNF689', 'score': 11.51}, {'connected_gene': 'TGFB1I1', 'score': 11.28}, {'connected_gene': 'ENSG00000260114', 'score': 11.04}, {'connected_gene': 'LOC730183', 'score': 10.92}, {'connected_gene': 'ZNF688', 'score': 10.69}, {'connected_gene': 'TAOK2', 'score': 10.26}, {'connected_gene': 'ORAI3', 'score': 10.17}, {'connected_gene': 'NPIPB13', 'score': 10.1}, {'connected_gene': 'ENSG00000260911', 'score': 6.62}, {'connected_gene': 'PRSS53', 'score': 4.18}, {'connected_gene': 'PHKG2', 'score': 1.63}, {'connected_gene': 'ZNF668', 'score': 1.33}, {'connected_gene': 'ENSG00000262721', 'score': 0.34}, {'connected_gene': 'LOC647086', 'score': 0.23}]
chr16 GH16I031092 31092420 31092569 0.38 [{'connected_gene': 'ENSG00000280160', 'score': 550.77}, {'connected_gene': 'KAT8', 'score': 21.0}, {'connected_gene': 'VKORC1', 'score': 0.77}, {'connected_gene': 'PRSS53', 'score': 0.77}, {'connected_gene': 'ENSG00000255439', 'score': 0.77}]
chr16 GH16I031084 31084099 31088761 0.82 [{'connected_gene': 'PIR60151', 'score': 550.77}, {'connected_gene': 'GC16P031249', 'score': 550.77}, {'connected_gene': 'HSD3B7', 'score': 23.16}, {'connected_gene': 'ENSG00000260911', 'score': 19.56}, {'connected_gene': 'PRSS53', 'score': 7.46}, {'connected_gene': 'CD2BP2', 'score': 3.83}, {'connected_gene': 'ENSG00000255439', 'score': 0.44}, {'connected_gene': 'ZNF646', 'score': 0.39}]