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
ENST00000274456 [[118604386, 118604602], [118728510, 118729089]] [[118604601, 118604602], [118728510, 118729076]]
ENST00000388882 [[118604448, 118604602], [118651879, 118651997], [118728510, 118728779]] [[118728575, 118728779]]
ENST00000513374 [[118668869, 118669326], [118728510, 118729438]] [[118669259, 118669326], [118728510, 118729076]]
ENST00000504771 [[118690008, 118691816], [118728510, 118735383]] [[118691785, 118691816], [118728510, 118729076]]
ENST00000503646 [[118690467, 118691087], [118691717, 118691816], [118728510, 118730293]] [[118691785, 118691816], [118728510, 118729076]]
ENST00000504642 [[118691007, 118691087], [118728510, 118729141]] [[118691050, 118691087], [118728510, 118729076]]
ENST00000415806 [[118691729, 118691816], [118727059, 118727178], [118728510, 118730294]] [[118691785, 118691816], [118727059, 118727148]]
NM_001077654 [[118604386, 118604602], [118728510, 118730299]] [[118604601, 118604602], [118728510, 118729076]]
NM_001286815 [[118604386, 118604602], [118651879, 118651997], [118728510, 118730299]] [[118728575, 118729076]]
NM_001286817 [[118604386, 118604602], [118651875, 118651997], [118728510, 118730299]] [[118728575, 118729076]]
NM_001286814 [[118668869, 118669326], [118728510, 118730299]] [[118669259, 118669326], [118728510, 118729076]]
NM_001286813 [[118690467, 118691087], [118691717, 118691816], [118728510, 118730299]] [[118691785, 118691816], [118728510, 118729076]]
NM_014350 [[118691514, 118691816], [118728510, 118730299]] [[118691785, 118691816], [118728510, 118729076]]
Promoter
Chrom Start End Description
chr5 118604385 118604394 CAGE_peak_12_at_TNFAIP8_5end
chr5 118604403 118604434 CAGE_peak_4_at_TNFAIP8_5end
chr5 118604439 118604502 CAGE_peak_1_at_TNFAIP8_5end
chr5 118604518 118604529 CAGE_peak_11_at_TNFAIP8_5end
chr5 118668846 118668885 CAGE_peak_8_at_TNFAIP8_5end
chr5 118668891 118668933 CAGE_peak_5_at_TNFAIP8_5end
chr5 118668955 118668964 CAGE_peak_19_at_TNFAIP8_5end
chr5 118669079 118669097 CAGE_peak_13_at_TNFAIP8_5end
chr5 118669265 118669294 CAGE_peak_10_at_TNFAIP8_5end
chr5 118689607 118689632 CAGE_peak_32_at_TNFAIP8_5end
chr5 118690466 118690505 CAGE_peak_29_at_TNFAIP8_5end
chr5 118691143 118691149 CAGE_peak_36_at_TNFAIP8_5end
chr5 118691590 118691601 CAGE_peak_14_at_TNFAIP8_5end
chr5 118691623 118691640 CAGE_peak_6_at_TNFAIP8_5end
chr5 118691642 118691653 CAGE_peak_9_at_TNFAIP8_5end
chr5 118691664 118691675 CAGE_peak_7_at_TNFAIP8_5end
chr5 118691687 118691700 CAGE_peak_3_at_TNFAIP8_5end
chr5 118691706 118691722 CAGE_peak_2_at_TNFAIP8_5end
chr5 118728649 118728666 CAGE_peak_17_at_TNFAIP8_5end
chr5 118728830 118728846 CAGE_peak_15_at_TNFAIP8_5end
chr5 118728908 118728920 CAGE_peak_23_at_TNFAIP8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I119283 119283501 119291389 1.59 [{'connected_gene': 'FAM170A', 'score': 4.39}, {'connected_gene': 'TNFAIP8', 'score': 2.12}, {'connected_gene': 'DMXL1', 'score': 1.26}, {'connected_gene': 'GC05P119298', 'score': 0.39}]
chr5 GH05I119425 119425609 119428043 0.69 [{'connected_gene': 'HSD17B4', 'score': 20.22}, {'connected_gene': 'LOC105379143', 'score': 10.15}, {'connected_gene': 'DMXL1', 'score': 10.15}, {'connected_gene': 'TNFAIP8', 'score': 7.93}, {'connected_gene': 'GC05P119446', 'score': 0.37}, {'connected_gene': 'LOC102723444', 'score': 0.19}]
chr5 GH05I119396 119396401 119396600 0.58 [{'connected_gene': 'DTWD2', 'score': 10.81}, {'connected_gene': 'DMXL1', 'score': 9.93}, {'connected_gene': 'LOC105379143', 'score': 9.93}, {'connected_gene': 'TNFAIP8', 'score': 6.56}, {'connected_gene': 'LOC102723444', 'score': 0.26}, {'connected_gene': 'GC05P119446', 'score': 0.25}]
chr5 GH05I119394 119394796 119395942 0.85 [{'connected_gene': 'DTWD2', 'score': 10.81}, {'connected_gene': 'LOC105379143', 'score': 9.93}, {'connected_gene': 'DMXL1', 'score': 9.93}, {'connected_gene': 'TNFAIP8', 'score': 9.77}, {'connected_gene': 'HSD17B4', 'score': 5.8}, {'connected_gene': 'LOC102723444', 'score': 0.28}, {'connected_gene': 'GC05P119446', 'score': 0.23}]
chr5 GH05I119393 119393198 119394451 0.63 [{'connected_gene': 'DTWD2', 'score': 10.81}, {'connected_gene': 'LOC105379143', 'score': 10.37}, {'connected_gene': 'DMXL1', 'score': 10.37}, {'connected_gene': 'TNFAIP8', 'score': 7.12}, {'connected_gene': 'LOC102723444', 'score': 0.28}, {'connected_gene': 'GC05P119446', 'score': 0.23}]
chr5 GH05I119267 119267486 119279781 2.79 [{'connected_gene': 'TNFAIP8', 'score': 574.73}, {'connected_gene': 'DTWD2', 'score': 10.66}, {'connected_gene': 'DMXL1', 'score': 7.01}, {'connected_gene': 'GC05P119298', 'score': 0.34}]
chr5 GH05I119410 119410720 119412815 1.57 [{'connected_gene': 'TNFAIP8', 'score': 44.7}, {'connected_gene': 'DTWD2', 'score': 11.44}, {'connected_gene': 'RNU6-373P', 'score': 11.28}, {'connected_gene': 'ENSG00000250678', 'score': 11.28}, {'connected_gene': 'HSD17B4', 'score': 11.21}, {'connected_gene': 'FAM170A', 'score': 9.74}, {'connected_gene': 'DMXL1', 'score': 1.27}, {'connected_gene': 'GC05P119446', 'score': 0.29}, {'connected_gene': 'LOC102723444', 'score': 0.22}]
chr5 GH05I119406 119406676 119407005 0.23 [{'connected_gene': 'TNFAIP8', 'score': 22.38}, {'connected_gene': 'DTWD2', 'score': 10.96}, {'connected_gene': 'LOC105379143', 'score': 9.87}, {'connected_gene': 'DMXL1', 'score': 9.87}, {'connected_gene': 'GC05P119446', 'score': 0.28}, {'connected_gene': 'LOC102723444', 'score': 0.23}]
chr5 GH05I119397 119397002 119399999 1.59 [{'connected_gene': 'TNFAIP8', 'score': 45.22}, {'connected_gene': 'DMXL1', 'score': 11.49}, {'connected_gene': 'DTWD2', 'score': 10.81}, {'connected_gene': 'LOC105379143', 'score': 9.93}, {'connected_gene': 'LOC102723444', 'score': 0.26}, {'connected_gene': 'GC05P119446', 'score': 0.25}]
chr5 GH05I119388 119388754 119390424 1.25 [{'connected_gene': 'TNFAIP8', 'score': 50.56}, {'connected_gene': 'DMXL1', 'score': 12.25}, {'connected_gene': 'LOC105379143', 'score': 10.37}, {'connected_gene': 'LOC102723444', 'score': 0.29}, {'connected_gene': 'GC05P119446', 'score': 0.22}]
chr5 GH05I119317 119317976 119345116 2.3 [{'connected_gene': 'TNFAIP8', 'score': 608.15}, {'connected_gene': 'DMXL1', 'score': 39.18}, {'connected_gene': 'LAMTOR3P2', 'score': 10.9}, {'connected_gene': 'LOC105379143', 'score': 10.27}, {'connected_gene': 'FAM170A', 'score': 5.79}, {'connected_gene': 'HSD17B4', 'score': 5.11}, {'connected_gene': 'ENSG00000249426', 'score': 4.41}, {'connected_gene': 'GC05P119341', 'score': 0.39}, {'connected_gene': 'GC05M119307', 'score': 0.34}, {'connected_gene': 'RN7SL174P', 'score': 0.34}]
chr5 GH05I119030 119030316 119033663 1.31 [{'connected_gene': 'TNFAIP8', 'score': 21.8}, {'connected_gene': 'LOC105379143', 'score': 19.89}, {'connected_gene': 'DTWD2', 'score': 18.83}, {'connected_gene': 'DMXL1', 'score': 6.96}, {'connected_gene': 'ENSG00000250928', 'score': 0.34}]
chr5 GH05I119365 119365107 119371869 1.19 [{'connected_gene': 'TNFAIP8', 'score': 13.33}, {'connected_gene': 'LOC105379143', 'score': 10.54}, {'connected_gene': 'DMXL1', 'score': 10.54}, {'connected_gene': 'HSD17B4', 'score': 6.27}, {'connected_gene': 'LOC102723444', 'score': 0.39}, {'connected_gene': 'GC05P119446', 'score': 0.18}]
chr5 GH05I119363 119363031 119364747 0.82 [{'connected_gene': 'TNFAIP8', 'score': 12.88}, {'connected_gene': 'LOC105379143', 'score': 10.26}, {'connected_gene': 'DMXL1', 'score': 10.25}, {'connected_gene': 'HSD17B4', 'score': 6.2}, {'connected_gene': 'LOC102723444', 'score': 0.44}, {'connected_gene': 'GC05P119446', 'score': 0.18}]
chr5 GH05I119352 119352070 119362634 2.33 [{'connected_gene': 'TNFAIP8', 'score': 563.01}, {'connected_gene': 'LOC102723444', 'score': 550.77}, {'connected_gene': 'LOC105379143', 'score': 10.26}, {'connected_gene': 'DMXL1', 'score': 10.26}, {'connected_gene': 'HSD17B4', 'score': 5.9}, {'connected_gene': 'GC05P119446', 'score': 0.17}]
chr5 GH05I119377 119377880 119379344 0.4 [{'connected_gene': 'TNFAIP8', 'score': 11.12}, {'connected_gene': 'LOC102723444', 'score': 0.34}, {'connected_gene': 'GC05P119446', 'score': 0.2}]
chr5 GH05I119255 119255658 119256491 0.8 [{'connected_gene': 'TNFAIP8', 'score': 0.39}, {'connected_gene': 'PIR33377', 'score': 0.21}]
chr5 GH05I119280 119280096 119281125 0.38 [{'connected_gene': 'TNFAIP8', 'score': 0.39}, {'connected_gene': 'GC05P119298', 'score': 0.37}]
chr5 GH05I119257 119257177 119257508 0.22 [{'connected_gene': 'TNFAIP8', 'score': 0.39}, {'connected_gene': 'PIR33377', 'score': 0.21}]
chr5 GH05I119261 119261433 119261720 0.23 [{'connected_gene': 'TNFAIP8', 'score': 0.44}, {'connected_gene': 'PIR33377', 'score': 0.2}]
chr5 GH05I119281 119281566 119283076 0.31 [{'connected_gene': 'TNFAIP8', 'score': 0.39}, {'connected_gene': 'GC05P119298', 'score': 0.37}]
chr5 GH05I119299 119299146 119311358 1.47 [{'connected_gene': 'RN7SL174P', 'score': 550.77}, {'connected_gene': 'GC05M119307', 'score': 550.77}, {'connected_gene': 'TNFAIP8', 'score': 5.26}, {'connected_gene': 'GC05P119298', 'score': 0.44}]
chr5 GH05I119311 119311768 119317259 1.18 [{'connected_gene': 'LOC105379143', 'score': 10.2}, {'connected_gene': 'DMXL1', 'score': 10.2}, {'connected_gene': 'FAM170A', 'score': 5.56}, {'connected_gene': 'TNFAIP8', 'score': 5.5}, {'connected_gene': 'HSD17B4', 'score': 4.34}, {'connected_gene': 'GC05M119307', 'score': 0.44}, {'connected_gene': 'RN7SL174P', 'score': 0.44}, {'connected_gene': 'GC05P119341', 'score': 0.31}]
chr5 GH05I119386 119386601 119387200 0.89 [{'connected_gene': 'LOC105379143', 'score': 10.37}, {'connected_gene': 'DMXL1', 'score': 10.36}, {'connected_gene': 'FAM170A', 'score': 7.4}, {'connected_gene': 'LOC102723444', 'score': 0.29}, {'connected_gene': 'GC05P119446', 'score': 0.22}, {'connected_gene': 'TNFAIP8', 'score': 0.13}]
chr5 GH05I119387 119387671 119388600 0.97 [{'connected_gene': 'LOC105379143', 'score': 10.37}, {'connected_gene': 'DMXL1', 'score': 10.37}, {'connected_gene': 'TNFAIP8', 'score': 6.33}, {'connected_gene': 'FAM170A', 'score': 4.93}, {'connected_gene': 'LOC102723444', 'score': 0.29}, {'connected_gene': 'GC05P119446', 'score': 0.22}]
chr5 GH05I119347 119347523 119348750 0.46 [{'connected_gene': 'LOC105379143', 'score': 10.56}, {'connected_gene': 'DMXL1', 'score': 10.56}, {'connected_gene': 'TNFAIP8', 'score': 5.75}, {'connected_gene': 'HSD17B4', 'score': 5.09}, {'connected_gene': 'GC05P119341', 'score': 0.44}, {'connected_gene': 'LOC102723444', 'score': 0.44}]
chr5 GH05I119372 119372800 119375650 0.62 [{'connected_gene': 'LOC105379143', 'score': 10.3}, {'connected_gene': 'DMXL1', 'score': 10.3}, {'connected_gene': 'TNFAIP8', 'score': 6.17}, {'connected_gene': 'LOC102723444', 'score': 0.37}, {'connected_gene': 'GC05P119446', 'score': 0.19}]
chr5 GH05I119384 119384201 119384400 0.4 [{'connected_gene': 'LOC105379143', 'score': 10.37}, {'connected_gene': 'DMXL1', 'score': 10.36}, {'connected_gene': 'LOC102723444', 'score': 0.31}, {'connected_gene': 'GC05P119446', 'score': 0.21}, {'connected_gene': 'TNFAIP8', 'score': 0.13}]
chr5 GH05I119390 119390601 119390800 0.58 [{'connected_gene': 'LOC105379143', 'score': 10.37}, {'connected_gene': 'DMXL1', 'score': 10.37}, {'connected_gene': 'LOC102723444', 'score': 0.29}, {'connected_gene': 'GC05P119446', 'score': 0.22}, {'connected_gene': 'TNFAIP8', 'score': 0.13}]
chr5 GH05I119385 119385201 119385400 0.69 [{'connected_gene': 'LOC105379143', 'score': 10.37}, {'connected_gene': 'DMXL1', 'score': 10.36}, {'connected_gene': 'LOC102723444', 'score': 0.31}, {'connected_gene': 'GC05P119446', 'score': 0.21}, {'connected_gene': 'TNFAIP8', 'score': 0.13}]
chr5 GH05I119346 119346001 119346755 0.69 [{'connected_gene': 'LOC105379143', 'score': 10.56}, {'connected_gene': 'DMXL1', 'score': 10.56}, {'connected_gene': 'GC05P119341', 'score': 0.77}, {'connected_gene': 'LOC102723444', 'score': 0.44}, {'connected_gene': 'TNFAIP8', 'score': 0.18}]
chr5 GH05I119379 119379888 119381722 0.65 [{'connected_gene': 'LOC102723444', 'score': 0.31}, {'connected_gene': 'GC05P119446', 'score': 0.21}, {'connected_gene': 'TNFAIP8', 'score': 0.14}]
chr5 GH05I119382 119382306 119382495 0.51 [{'connected_gene': 'LOC102723444', 'score': 0.31}, {'connected_gene': 'GC05P119446', 'score': 0.21}, {'connected_gene': 'TNFAIP8', 'score': 0.14}]
chr5 GH05I119291 119291601 119291800 0.4 [{'connected_gene': 'GC05P119298', 'score': 0.44}, {'connected_gene': 'TNFAIP8', 'score': 0.34}]
chr5 GH05I119293 119292801 119293000 0.51 [{'connected_gene': 'GC05P119298', 'score': 0.44}, {'connected_gene': 'TNFAIP8', 'score': 0.34}]
chr5 GH05I119292 119292001 119292200 0.4 [{'connected_gene': 'GC05P119298', 'score': 0.44}, {'connected_gene': 'TNFAIP8', 'score': 0.34}]
chr5 GH05I119345 119345601 119345800 0.51 [{'connected_gene': 'GC05P119341', 'score': 0.77}, {'connected_gene': 'LOC102723444', 'score': 0.39}, {'connected_gene': 'TNFAIP8', 'score': 0.18}]