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
ENST00000483039 [[7461608, 7461692], [7463162, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464609]] [[7463388, 7463484], [7463666, 7463805], [7464040, 7464150]]
ENST00000396542 [[7461609, 7461692], [7462384, 7462614], [7463167, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464152]] [[7462407, 7462614], [7463167, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464150]]
ENST00000438470 [[7461616, 7461692], [7462384, 7462614], [7462940, 7463019], [7463365, 7463484], [7463666, 7463711]] [[7462407, 7462614], [7462940, 7463019], [7463365, 7463484], [7463666, 7463711]]
ENST00000436057 [[7461618, 7461692], [7462384, 7462614], [7462940, 7463019], [7463162, 7463210], [7463365, 7463484], [7463666, 7463689]] [[7462407, 7462614], [7462940, 7463019], [7463162, 7463210], [7463365, 7463484], [7463666, 7463689]]
ENST00000349228 [[7461792, 7462614], [7462940, 7463019], [7463365, 7463484], [7463666, 7463805], [7464040, 7464917]] [[7462356, 7462614], [7462940, 7463019], [7463365, 7463484], [7463666, 7463805], [7464040, 7464150]]
ENST00000338784 [[7461913, 7462614], [7462940, 7463019], [7463162, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464925]] [[7462356, 7462614], [7462940, 7463019], [7463162, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464150]]
ENST00000380535 [[7462075, 7462614], [7463167, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464384]] [[7462356, 7462614], [7463167, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464150]]
ENST00000396545 [[7462103, 7462614], [7462940, 7463019], [7463162, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464134], [7464315, 7464918]] [[7462356, 7462614], [7462940, 7463019], [7463162, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464134], [7464315, 7464322]]
NM_001198624 [[7461608, 7461692], [7462384, 7462614], [7463167, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464925]] [[7462407, 7462614], [7463167, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464150]]
NR_073490 [[7461608, 7462614], [7463365, 7463484], [7463666, 7463805], [7464040, 7464925]] None
NM_001198623 [[7461608, 7462614], [7463167, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464925]] [[7462356, 7462614], [7463167, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464150]]
NM_001198622 [[7461608, 7462614], [7463164, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464925]] [[7462356, 7462614], [7463164, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464150]]
NM_172087 [[7461608, 7462614], [7462940, 7463019], [7463365, 7463484], [7463666, 7463805], [7464040, 7464925]] [[7462356, 7462614], [7462940, 7463019], [7463365, 7463484], [7463666, 7463805], [7464040, 7464150]]
NM_172088 [[7461608, 7462614], [7462940, 7463019], [7463162, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464134], [7464315, 7464925]] [[7462356, 7462614], [7462940, 7463019], [7463162, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464134], [7464315, 7464322]]
NM_003808 [[7461608, 7462614], [7462940, 7463019], [7463162, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464925]] [[7462356, 7462614], [7462940, 7463019], [7463162, 7463210], [7463365, 7463484], [7463666, 7463805], [7464040, 7464150]]
Promoter
Chrom Start End Description
chr17 7461486 7461505 CAGE_peak_5_at_TNFSF13_5end
chr17 7461580 7461606 CAGE_peak_3_at_TNFSF13_5end
chr17 7461613 7461645 CAGE_peak_6_at_TNFSF13_5end
chr17 7461732 7461744 CAGE_peak_16_at_TNFSF13_5end
chr17 7461753 7461777 CAGE_peak_4_at_TNFSF13_5end
chr17 7461781 7461820 CAGE_peak_8_at_TNFSF13_5end
chr17 7461849 7461873 CAGE_peak_11_at_TNFSF13_5end
chr17 7462009 7462021 CAGE_peak_12_at_TNFSF13_5end
chr17 7462031 7462086 CAGE_peak_2_at_TNFSF13_5end
chr17 7462091 7462102 CAGE_peak_9_at_TNFSF13_5end
chr17 7462103 7462110 CAGE_peak_14_at_TNFSF13_5end
chr17 7462261 7462266 CAGE_peak_13_at_TNFSF13_5end
chr17 7462268 7462279 CAGE_peak_7_at_TNFSF13_5end
chr17 7462297 7462342 CAGE_peak_1_at_TNFSF13_5end
chr17 7462347 7462356 CAGE_peak_10_at_TNFSF13_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I007556 7556244 7563337 2.24 [{'connected_gene': 'TNFSF13', 'score': 555.97}, {'connected_gene': 'GC17P007747', 'score': 550.77}, {'connected_gene': 'SENP3', 'score': 550.77}, {'connected_gene': 'ENSG00000276384', 'score': 550.77}, {'connected_gene': 'SAT2', 'score': 23.08}, {'connected_gene': 'CHRNB1', 'score': 20.68}, {'connected_gene': 'TNFSF12', 'score': 11.66}, {'connected_gene': 'SNORA48', 'score': 5.15}, {'connected_gene': 'SENP3-EIF4A1', 'score': 0.77}, {'connected_gene': 'TNFSF12-TNFSF13', 'score': 0.39}]
chr17 GH17I007571 7571056 7585261 2.56 [{'connected_gene': 'SNORD10', 'score': 599.71}, {'connected_gene': 'EIF4A1', 'score': 584.56}, {'connected_gene': 'SNORA67', 'score': 550.77}, {'connected_gene': 'PIR46508', 'score': 550.77}, {'connected_gene': 'CD68', 'score': 550.77}, {'connected_gene': 'GC17P007742', 'score': 550.77}, {'connected_gene': 'GC17P007737', 'score': 550.77}, {'connected_gene': 'GC17P007739', 'score': 550.77}, {'connected_gene': 'GC17P007735', 'score': 550.77}, {'connected_gene': 'MPDU1', 'score': 550.44}, {'connected_gene': 'DVL2', 'score': 90.08}, {'connected_gene': 'PFAS', 'score': 62.14}, {'connected_gene': 'CTC1', 'score': 55.51}, {'connected_gene': 'SNORA48', 'score': 45.17}, {'connected_gene': 'CNTROB', 'score': 41.8}, {'connected_gene': 'POLR2A', 'score': 40.65}, {'connected_gene': 'ENSG00000262089', 'score': 34.89}, {'connected_gene': 'PLSCR3', 'score': 32.41}, {'connected_gene': 'PER1', 'score': 31.89}, {'connected_gene': 'ENSG00000265749', 'score': 30.9}, {'connected_gene': 'KDM6B', 'score': 26.87}, {'connected_gene': 'SAT2', 'score': 25.39}, {'connected_gene': 'GPS2', 'score': 24.16}, {'connected_gene': 'WRAP53', 'score': 24.12}, {'connected_gene': 'KCTD11', 'score': 21.1}, {'connected_gene': 'TP53', 'score': 20.21}, {'connected_gene': 'SENP3', 'score': 19.8}, {'connected_gene': 'MIR324', 'score': 19.24}, {'connected_gene': 'LOC100996842', 'score': 18.62}, {'connected_gene': 'RPL26', 'score': 13.87}, {'connected_gene': 'SHBG', 'score': 10.33}, {'connected_gene': 'CHD3', 'score': 9.91}, {'connected_gene': 'ALOX12-AS1', 'score': 9.8}, {'connected_gene': 'NEURL4', 'score': 9.7}, {'connected_gene': 'CHRNB1', 'score': 9.4}, {'connected_gene': 'TNFSF12', 'score': 9.29}, {'connected_gene': 'ATP1B2', 'score': 7.18}, {'connected_gene': 'TMEM102', 'score': 6.07}, {'connected_gene': 'TNFSF13', 'score': 5.72}, {'connected_gene': 'TMEM107', 'score': 4.84}, {'connected_gene': 'PIR59849', 'score': 0.77}, {'connected_gene': 'GC17P007729', 'score': 0.77}, {'connected_gene': 'PIR46619', 'score': 0.44}, {'connected_gene': 'GC17P007743', 'score': 0.44}, {'connected_gene': 'ENSG00000264772', 'score': 0.44}, {'connected_gene': 'SENP3-EIF4A1', 'score': 0.37}]
chr17 GH17I007347 7347306 7356331 2.26 [{'connected_gene': 'TMEM95', 'score': 550.77}, {'connected_gene': 'GC17P007353', 'score': 550.77}, {'connected_gene': 'KCTD11', 'score': 550.77}, {'connected_gene': 'DVL2', 'score': 25.06}, {'connected_gene': 'ELP5', 'score': 15.45}, {'connected_gene': 'WRAP53', 'score': 11.59}, {'connected_gene': 'LOC100996842', 'score': 11.55}, {'connected_gene': 'PFAS', 'score': 10.74}, {'connected_gene': 'CNTROB', 'score': 9.72}, {'connected_gene': 'CD68', 'score': 6.42}, {'connected_gene': 'TNFSF13', 'score': 5.97}, {'connected_gene': 'NLGN2', 'score': 5.74}, {'connected_gene': 'CHRNB1', 'score': 5.16}, {'connected_gene': 'ACAP1', 'score': 4.91}, {'connected_gene': 'ENSG00000263171', 'score': 0.77}, {'connected_gene': 'GC17P007352', 'score': 0.44}]