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
ENST00000341223 [[35179592, 35182183], [35182265, 35182342], [35182459, 35182767], [35182879, 35183034]] [[35182070, 35182183], [35182265, 35182342], [35182459, 35182767], [35182879, 35182882]]
ENST00000298159 [[35179592, 35182183], [35182265, 35182342], [35182459, 35182767], [35183743, 35183896]] [[35182070, 35182183], [35182265, 35182342], [35182459, 35182767], [35183743, 35183746]]
ENST00000554470 [[35181213, 35182183], [35182265, 35182342], [35182713, 35182767], [35183743, 35184029]] [[35182333, 35182342], [35182713, 35182767], [35183743, 35183746]]
ENST00000422678 [[35181242, 35182183], [35182265, 35182342], [35182602, 35182767], [35183743, 35183783]] [[35182333, 35182342], [35182602, 35182767], [35183743, 35183746]]
ENST00000555765 [[35182057, 35182183], [35182265, 35182342], [35182459, 35182767], [35183640, 35183761]] [[35182070, 35182183], [35182265, 35182342], [35182459, 35182719]]
ENST00000556161 [[35182063, 35182183], [35182265, 35182342], [35182459, 35182767], [35183401, 35183442]] [[35182070, 35182183], [35182265, 35182342], [35182459, 35182719]]
NM_021914 [[35179587, 35182183], [35182265, 35182342], [35182459, 35182767], [35182879, 35183023]] [[35182070, 35182183], [35182265, 35182342], [35182459, 35182767], [35182879, 35182882]]
NM_001243645 [[35179587, 35182183], [35182265, 35182342], [35182459, 35182767], [35183640, 35183761]] [[35182070, 35182183], [35182265, 35182342], [35182459, 35182719]]
NM_138638 [[35179587, 35182183], [35182265, 35182342], [35182459, 35182767], [35183743, 35184029]] [[35182070, 35182183], [35182265, 35182342], [35182459, 35182767], [35183743, 35183746]]
NR_028130 [[35179587, 35182183], [35182265, 35182342], [35182602, 35182767], [35183743, 35184029]] None
NR_028131 [[35179587, 35182183], [35182265, 35182342], [35182713, 35182767], [35183743, 35184029]] None
Promoter
Chrom Start End Description
chr14 35181965 35181988 CAGE_peak_15_at_CFL2_5end
chr14 35182939 35182950 CAGE_peak_17_at_CFL2_5end
chr14 35182965 35182987 CAGE_peak_10_at_CFL2_5end
chr14 35182994 35183013 CAGE_peak_13_at_CFL2_5end
chr14 35183743 35183754 CAGE_peak_9_at_CFL2_5end
chr14 35183755 35183770 CAGE_peak_7_at_CFL2_5end
chr14 35183771 35183784 CAGE_peak_4_at_CFL2_5end
chr14 35183785 35183826 CAGE_peak_1_at_CFL2_5end
chr14 35183837 35183867 CAGE_peak_2_at_CFL2_5end
chr14 35183868 35183883 CAGE_peak_3_at_CFL2_5end
chr14 35183886 35183895 CAGE_peak_6_at_CFL2_5end
chr14 35183899 35183910 CAGE_peak_5_at_CFL2_5end
chr14 35184097 35184152 CAGE_peak_8_at_CFL2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I034692 34692355 34694040 1.26 [{'connected_gene': 'RPL23AP8', 'score': 550.77}, {'connected_gene': 'GC14P034695', 'score': 550.77}, {'connected_gene': 'CFL2', 'score': 6.69}, {'connected_gene': 'RNU6-1261P', 'score': 0.37}]
chr14 GH14I034604 34604801 34606000 1.08 [{'connected_gene': 'SNX6', 'score': 571.75}, {'connected_gene': 'RNU1-27P', 'score': 11.26}, {'connected_gene': 'EAPP', 'score': 11.24}, {'connected_gene': 'CFL2', 'score': 10.65}, {'connected_gene': 'RPS19P3', 'score': 0.28}]
chr14 GH14I034677 34677423 34678904 1.25 [{'connected_gene': 'SNX6', 'score': 5.17}, {'connected_gene': 'CFL2', 'score': 4.83}, {'connected_gene': 'EAPP', 'score': 4.63}, {'connected_gene': 'RNU6-1261P', 'score': 0.77}, {'connected_gene': 'RPL23AP8', 'score': 0.37}]
chr14 GH14I035410 35410740 35411612 0.31 [{'connected_gene': 'PSMA6', 'score': 11.75}, {'connected_gene': 'CFL2', 'score': 10.31}, {'connected_gene': 'EAPP', 'score': 9.85}, {'connected_gene': 'RNU1-27P', 'score': 9.85}, {'connected_gene': 'NFKBIA', 'score': 0.44}, {'connected_gene': 'DNAJC8P1', 'score': 0.37}]
chr14 GH14I035412 35412851 35413800 1.28 [{'connected_gene': 'EAPP', 'score': 20.49}, {'connected_gene': 'RPS19P3', 'score': 14.69}, {'connected_gene': 'CFL2', 'score': 10.31}, {'connected_gene': 'RNU1-27P', 'score': 9.85}, {'connected_gene': 'NFKBIA', 'score': 0.44}, {'connected_gene': 'DNAJC8P1', 'score': 0.37}]
chr14 GH14I034929 34929963 34931984 1.03 [{'connected_gene': 'FAM177A1', 'score': 10.91}, {'connected_gene': 'CFL2', 'score': 10.39}, {'connected_gene': 'RPS19P3', 'score': 10.06}, {'connected_gene': 'PPP2R3C', 'score': 8.06}, {'connected_gene': 'BAZ1A', 'score': 4.64}, {'connected_gene': 'EAPP', 'score': 4.25}, {'connected_gene': 'KIAA0391', 'score': 2.87}, {'connected_gene': 'NFKBIA', 'score': 1.75}, {'connected_gene': 'GC14M034933', 'score': 0.77}, {'connected_gene': 'ENSG00000258493', 'score': 0.39}, {'connected_gene': 'SRP54-AS1', 'score': 0.23}]
chr14 GH14I034722 34722600 34723704 1.2 [{'connected_gene': 'FAM177A1', 'score': 4.5}, {'connected_gene': 'CFL2', 'score': 0.44}, {'connected_gene': 'GC14M034741', 'score': 0.37}]
chr14 GH14I034699 34699061 34701333 1.38 [{'connected_gene': 'CFL2', 'score': 5.4}, {'connected_gene': 'KIAA0391', 'score': 4.3}, {'connected_gene': 'GC14P034695', 'score': 0.44}]
chr14 GH14I034805 34805413 34805795 0.39 [{'connected_gene': 'CFL2', 'score': 11.26}, {'connected_gene': 'PSMA6', 'score': 5.44}, {'connected_gene': 'BAZ1A', 'score': 3.03}, {'connected_gene': 'PPP2R3C', 'score': 1.76}, {'connected_gene': 'GC14M034846', 'score': 0.28}, {'connected_gene': 'RPL12P6', 'score': 0.21}]
chr14 GH14I034709 34709075 34715545 2.43 [{'connected_gene': 'CFL2', 'score': 558.86}, {'connected_gene': 'EAPP', 'score': 22.12}, {'connected_gene': 'RPS19P3', 'score': 12.65}, {'connected_gene': 'SRP54-AS1', 'score': 9.91}, {'connected_gene': 'PSMA6', 'score': 8.38}, {'connected_gene': 'FAM177A1', 'score': 4.57}, {'connected_gene': 'GC14P034695', 'score': 0.37}]
chr14 GH14I034648 34648042 34652332 1.23 [{'connected_gene': 'CFL2', 'score': 10.77}, {'connected_gene': 'RNU1-27P', 'score': 10.32}, {'connected_gene': 'EAPP', 'score': 10.31}, {'connected_gene': 'SNX6', 'score': 4.74}, {'connected_gene': 'ENSG00000275978', 'score': 0.44}]
chr14 GH14I035420 35420175 35420344 0.38 [{'connected_gene': 'CFL2', 'score': 10.31}, {'connected_gene': 'RNU1-27P', 'score': 9.85}, {'connected_gene': 'EAPP', 'score': 9.84}, {'connected_gene': 'DNAJC8P1', 'score': 0.44}, {'connected_gene': 'NFKBIA', 'score': 0.37}]
chr14 GH14I035415 35414994 35418895 1.49 [{'connected_gene': 'CFL2', 'score': 10.31}, {'connected_gene': 'RNU1-27P', 'score': 9.85}, {'connected_gene': 'EAPP', 'score': 9.84}, {'connected_gene': 'SRP54-AS1', 'score': 4.83}, {'connected_gene': 'INSM2', 'score': 4.22}, {'connected_gene': 'RALGAPA1', 'score': 4.19}, {'connected_gene': 'NFKBIA', 'score': 2.88}, {'connected_gene': 'FAM177A1', 'score': 1.76}, {'connected_gene': 'BRMS1L', 'score': 1.21}, {'connected_gene': 'PPP2R3C', 'score': 1.17}, {'connected_gene': 'DNAJC8P1', 'score': 0.39}]
chr14 GH14I035414 35414600 35414801 0.77 [{'connected_gene': 'CFL2', 'score': 10.31}, {'connected_gene': 'RNU1-27P', 'score': 9.85}, {'connected_gene': 'EAPP', 'score': 9.85}, {'connected_gene': 'SRP54-AS1', 'score': 4.18}, {'connected_gene': 'NFKBIA', 'score': 0.44}, {'connected_gene': 'DNAJC8P1', 'score': 0.37}]
chr14 GH14I034827 34827923 34830267 0.2 [{'connected_gene': 'CFL2', 'score': 10.35}, {'connected_gene': 'BAZ1A', 'score': 8.23}, {'connected_gene': 'FAM177A1', 'score': 7.33}, {'connected_gene': 'PPP2R3C', 'score': 6.46}, {'connected_gene': 'PSMA6', 'score': 4.67}, {'connected_gene': 'GC14M034846', 'score': 0.37}, {'connected_gene': 'RPL12P6', 'score': 0.17}]
chr14 GH14I034884 34884185 34884419 0.78 [{'connected_gene': 'CFL2', 'score': 10.15}, {'connected_gene': 'BAZ1A', 'score': 9.21}, {'connected_gene': 'IGBP1P1', 'score': 6.53}, {'connected_gene': 'KIAA0391', 'score': 5.27}, {'connected_gene': 'ENSG00000258493', 'score': 0.28}]
chr14 GH14I034708 34708855 34709004 0.83 [{'connected_gene': 'CFL2', 'score': 0.44}, {'connected_gene': 'GC14P034695', 'score': 0.39}]
chr14 GH14I034706 34706427 34708643 0.64 [{'connected_gene': 'CFL2', 'score': 7.01}, {'connected_gene': 'GC14P034695', 'score': 0.39}]
chr14 GH14I034696 34696026 34697024 0.43 [{'connected_gene': 'GC14P034695', 'score': 0.77}, {'connected_gene': 'CFL2', 'score': 0.37}]
chr14 GH14I034733 34733375 34733504 0.49 [{'connected_gene': 'GC14M034741', 'score': 0.44}, {'connected_gene': 'CFL2', 'score': 0.37}]

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