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
ENST00000233468 [[24290453, 24290721], [24291190, 24291329], [24296945, 24297064], [24299069, 24299313]] [[24290631, 24290721], [24291190, 24291329], [24296945, 24297064], [24299069, 24299099]]
ENST00000478050 [[24296518, 24297064], [24299069, 24299243]] None
NM_016047 [[24290453, 24290721], [24291190, 24291329], [24296945, 24297064], [24299069, 24299314]] [[24290631, 24290721], [24291190, 24291329], [24296945, 24297064], [24299069, 24299099]]
Promoter
Chrom Start End Description
chr2 24299099 24299102 CAGE_peak_6_at_SF3B14_5end
chr2 24299109 24299127 CAGE_peak_3_at_SF3B14_5end
chr2 24299128 24299144 CAGE_peak_4_at_SF3B14_5end
chr2 24299153 24299252 CAGE_peak_1_at_SF3B14_5end
chr2 24299259 24299265 CAGE_peak_5_at_SF3B14_5end
chr2 24299294 24299299 CAGE_peak_7_at_SF3B14_5end
chr2 24299308 24299354 CAGE_peak_2_at_SF3B14_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I024101 24101459 24101651 0.24 [{'connected_gene': 'SF3B6', 'score': 11.17}, {'connected_gene': 'FAM228B', 'score': 11.17}, {'connected_gene': 'MFSD2B', 'score': 10.31}, {'connected_gene': 'GC02M024111', 'score': 0.44}, {'connected_gene': 'PIR36243', 'score': 0.44}, {'connected_gene': 'TP53I3', 'score': 0.37}, {'connected_gene': 'GC02P023754', 'score': 0.05}]
chr2 GH02I024025 24025088 24027068 0.31 [{'connected_gene': 'SF3B6', 'score': 10.93}, {'connected_gene': 'FAM228B', 'score': 10.93}, {'connected_gene': 'UBXN2A', 'score': 4.44}, {'connected_gene': 'RNU6-370P', 'score': 0.37}, {'connected_gene': 'MFSD2B', 'score': 0.37}, {'connected_gene': 'GC02P023754', 'score': 0.06}]
chr2 GH02I023548 23548257 23551204 1.1 [{'connected_gene': 'SF3B6', 'score': 4.79}, {'connected_gene': 'GC02M023539', 'score': 0.44}, {'connected_gene': 'GC02M023617', 'score': 0.2}, {'connected_gene': 'KLHL29', 'score': 0.1}]
chr2 GH02I024075 24075204 24078746 2.32 [{'connected_gene': 'FAM228B', 'score': 587.3}, {'connected_gene': 'GC02M024079', 'score': 550.77}, {'connected_gene': 'PIR43014', 'score': 550.77}, {'connected_gene': 'SF3B6', 'score': 550.77}, {'connected_gene': 'TP53I3', 'score': 34.48}, {'connected_gene': 'ATAD2B', 'score': 16.14}, {'connected_gene': 'PFN4', 'score': 13.19}, {'connected_gene': 'WDCP', 'score': 10.6}, {'connected_gene': 'ENSG00000271936', 'score': 10.05}, {'connected_gene': 'GC02P023754', 'score': 0.05}]
chr2 GH02I024048 24048981 24050800 1.89 [{'connected_gene': 'FKBP1B', 'score': 550.77}, {'connected_gene': 'WDCP', 'score': 550.77}, {'connected_gene': 'FAM228B', 'score': 46.56}, {'connected_gene': 'SF3B6', 'score': 12.16}, {'connected_gene': 'MFSD2B', 'score': 11.81}, {'connected_gene': 'TP53I3', 'score': 11.13}, {'connected_gene': 'UBXN2A', 'score': 10.72}, {'connected_gene': 'ATAD2B', 'score': 10.72}, {'connected_gene': 'PFN4', 'score': 10.09}, {'connected_gene': 'GC02M024079', 'score': 0.31}, {'connected_gene': 'PIR43014', 'score': 0.31}, {'connected_gene': 'GC02P023754', 'score': 0.06}]
chr2 GH02I023824 23824811 23824960 0.64 [{'connected_gene': 'UBXN2A', 'score': 11.09}, {'connected_gene': 'ATAD2B', 'score': 11.09}, {'connected_gene': 'SF3B6', 'score': 10.12}, {'connected_gene': 'FAM228B', 'score': 10.12}, {'connected_gene': 'MFSD2B', 'score': 9.77}, {'connected_gene': 'PFN4', 'score': 7.77}, {'connected_gene': 'PGAM1P6', 'score': 0.25}, {'connected_gene': 'GC02P023754', 'score': 0.19}]
chr2 GH02I023990 23990825 23991077 0.22 [{'connected_gene': 'UBXN2A', 'score': 11.23}, {'connected_gene': 'ATAD2B', 'score': 11.23}, {'connected_gene': 'FAM228B', 'score': 10.62}, {'connected_gene': 'SF3B6', 'score': 10.62}, {'connected_gene': 'PFN4', 'score': 7.9}, {'connected_gene': 'RN7SL610P', 'score': 0.44}, {'connected_gene': 'GC02P023944', 'score': 0.25}, {'connected_gene': 'GC02P023754', 'score': 0.07}]
chr2 GH02I023924 23924738 23928391 2.1 [{'connected_gene': 'UBXN2A', 'score': 563.65}, {'connected_gene': 'ATAD2B', 'score': 550.77}, {'connected_gene': 'FAM228B', 'score': 28.07}, {'connected_gene': 'MFSD2B', 'score': 11.29}, {'connected_gene': 'SF3B6', 'score': 10.6}, {'connected_gene': 'FKBP1B', 'score': 8.93}, {'connected_gene': 'PFN4', 'score': 8.22}, {'connected_gene': 'RPS13P4', 'score': 0.31}, {'connected_gene': 'GC02P023754', 'score': 0.09}]
chr2 GH02I023563 23563312 23565556 0.92 [{'connected_gene': 'KLHL29', 'score': 5.57}, {'connected_gene': 'SF3B6', 'score': 4.79}, {'connected_gene': 'GC02M023539', 'score': 0.34}, {'connected_gene': 'GC02M023617', 'score': 0.23}]
chr2 GH02I023900 23900111 23902861 0.99 [{'connected_gene': 'RPS13P4', 'score': 550.77}, {'connected_gene': 'UBXN2A', 'score': 22.9}, {'connected_gene': 'ATAD2B', 'score': 17.67}, {'connected_gene': 'FAM228B', 'score': 11.3}, {'connected_gene': 'SF3B6', 'score': 9.21}, {'connected_gene': 'PFN4', 'score': 7.72}, {'connected_gene': 'GC02P023754', 'score': 0.11}]
chr2 GH02I024110 24110565 24111906 0.62 [{'connected_gene': 'GC02M024111', 'score': 550.77}, {'connected_gene': 'PIR36243', 'score': 550.77}, {'connected_gene': 'FAM228B', 'score': 50.8}, {'connected_gene': 'PFN4', 'score': 14.38}, {'connected_gene': 'TP53I3', 'score': 11.72}, {'connected_gene': 'SF3B6', 'score': 11.14}, {'connected_gene': 'MFSD2B', 'score': 10.43}, {'connected_gene': 'UBXN2A', 'score': 9.64}, {'connected_gene': 'ATAD2B', 'score': 9.64}, {'connected_gene': 'FAM228A', 'score': 5.9}, {'connected_gene': 'GC02P023754', 'score': 0.05}]