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
ENST00000366997 [[211916798, 211923392], [211924302, 211924409], [211952259, 211952386], [211956570, 211956844], [211960973, 211961069], [211966413, 211966532], [212002400, 212002665], [212003914, 212004114]] [[211923240, 211923392], [211924302, 211924409], [211952259, 211952386], [211956570, 211956844], [211960973, 211961069], [211966413, 211966532], [212002400, 212002638]]
ENST00000366996 [[211923134, 211923392], [211924302, 211924409], [211952259, 211952386], [211956570, 211956844], [211960973, 211961069], [211966413, 211966532], [212002400, 212002665], [212002791, 212003580]] [[211923240, 211923392], [211924302, 211924409], [211952259, 211952386], [211956570, 211956844], [211960973, 211961069], [211966413, 211966532], [212002400, 212002638]]
ENST00000498690 [[211952341, 211952386], [211966413, 211966668]] None
ENST00000488600 [[212002520, 212002661], [212003524, 212003672], [212003914, 212004064]] None
NM_001320808 [[211916798, 211923392], [211924302, 211924409], [211952259, 211952386], [211956570, 211956844], [211960973, 211961069], [211966413, 211966532], [212002400, 212002665], [212002791, 212003580]] [[211923240, 211923392], [211924302, 211924409], [211952259, 211952386], [211956570, 211956844], [211960973, 211961069], [211966413, 211966532], [212002400, 212002638]]
NM_014873 [[211916798, 211923392], [211924302, 211924409], [211952259, 211952386], [211956570, 211956844], [211960973, 211961069], [211966413, 211966532], [212002400, 212002665], [212003914, 212004114]] [[211923240, 211923392], [211924302, 211924409], [211952259, 211952386], [211956570, 211956844], [211960973, 211961069], [211966413, 211966532], [212002400, 212002638]]
Promoter
Chrom Start End Description
chr1 212002822 212002856 CAGE_peak_14_at_LPGAT1_5end
chr1 212002863 212002877 CAGE_peak_17_at_LPGAT1_5end
chr1 212003470 212003501 CAGE_peak_13_at_LPGAT1_5end
chr1 212003556 212003578 CAGE_peak_10_at_LPGAT1_5end
chr1 212003673 212003722 CAGE_peak_2_at_LPGAT1_5end
chr1 212003823 212003839 CAGE_peak_6_at_LPGAT1_5end
chr1 212003963 212003976 CAGE_peak_7_at_LPGAT1_5end
chr1 212003990 212004010 CAGE_peak_4_at_LPGAT1_5end
chr1 212004045 212004087 CAGE_peak_3_at_LPGAT1_5end
chr1 212004090 212004168 CAGE_peak_1_at_LPGAT1_5end
chr1 212004169 212004183 CAGE_peak_5_at_LPGAT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I211741 211741747 211743370 0.43 [{'connected_gene': 'LPGAT1', 'score': 8.75}, {'connected_gene': 'TMEM206', 'score': 5.05}, {'connected_gene': 'INTS7', 'score': 4.56}, {'connected_gene': 'PIR57135', 'score': 0.39}, {'connected_gene': 'PIR47428', 'score': 0.37}]
chr1 GH01I211895 211895010 211896039 1.01 [{'connected_gene': 'LPGAT1', 'score': 15.55}, {'connected_gene': 'TMEM206', 'score': 13.79}, {'connected_gene': 'LOC102723727', 'score': 10.97}, {'connected_gene': 'PIR53279', 'score': 0.34}, {'connected_gene': 'ENSG00000233626', 'score': 0.26}]
chr1 GH01I211815 211815000 211816008 0.76 [{'connected_gene': 'LPGAT1', 'score': 18.21}, {'connected_gene': 'NEK2', 'score': 10.64}, {'connected_gene': 'LOC91548', 'score': 10.64}, {'connected_gene': 'ENSG00000212187', 'score': 10.37}, {'connected_gene': 'INTS7', 'score': 4.68}, {'connected_gene': 'PPP2R5A', 'score': 4.46}, {'connected_gene': 'ENSG00000212205', 'score': 0.39}, {'connected_gene': 'LOC102723727', 'score': 0.39}]
chr1 GH01I211797 211797051 211799727 0.31 [{'connected_gene': 'LPGAT1', 'score': 10.02}, {'connected_gene': 'INTS7', 'score': 4.68}, {'connected_gene': 'ENSG00000212205', 'score': 0.77}, {'connected_gene': 'RN7SL344P', 'score': 0.44}]
chr1 GH01I211914 211914910 211921650 1.35 [{'connected_gene': 'LPGAT1', 'score': 20.39}, {'connected_gene': 'LOC102723727', 'score': 19.38}, {'connected_gene': 'SNORA16B', 'score': 15.95}, {'connected_gene': 'TRAF5', 'score': 11.08}, {'connected_gene': 'ENSG00000212187', 'score': 10.39}, {'connected_gene': 'ENSG00000229832', 'score': 9.68}, {'connected_gene': 'INTS7', 'score': 4.2}, {'connected_gene': 'ENSG00000233626', 'score': 0.37}, {'connected_gene': 'PIR53279', 'score': 0.25}]
chr1 GH01I211755 211755451 211758605 0.38 [{'connected_gene': 'LPGAT1', 'score': 10.19}, {'connected_gene': 'ENSG00000212187', 'score': 10.01}, {'connected_gene': 'LOC102723727', 'score': 8.31}, {'connected_gene': 'TMEM206', 'score': 5.36}, {'connected_gene': 'INTS7', 'score': 4.67}, {'connected_gene': 'PIR57135', 'score': 0.77}, {'connected_gene': 'RN7SL344P', 'score': 0.28}]
chr1 GH01I211788 211788209 211791070 0.62 [{'connected_gene': 'LPGAT1', 'score': 10.58}, {'connected_gene': 'LOC102723727', 'score': 8.38}, {'connected_gene': 'TMEM206', 'score': 5.04}, {'connected_gene': 'INTS7', 'score': 4.55}, {'connected_gene': 'RN7SL344P', 'score': 0.77}, {'connected_gene': 'PIR57135', 'score': 0.28}]
chr1 GH01I211785 211785494 211786721 0.62 [{'connected_gene': 'LPGAT1', 'score': 20.52}, {'connected_gene': 'LOC102723727', 'score': 10.79}, {'connected_gene': 'TMEM206', 'score': 5.18}, {'connected_gene': 'RN7SL344P', 'score': 0.44}, {'connected_gene': 'PIR57135', 'score': 0.29}]
chr1 GH01I211901 211901913 211905234 0.93 [{'connected_gene': 'LPGAT1', 'score': 21.92}, {'connected_gene': 'LOC102723727', 'score': 11.12}, {'connected_gene': 'NEK2', 'score': 10.5}, {'connected_gene': 'LOC91548', 'score': 10.5}, {'connected_gene': 'PIR53279', 'score': 0.29}, {'connected_gene': 'ENSG00000233626', 'score': 0.29}]
chr1 GH01I211907 211907469 211913407 1.1 [{'connected_gene': 'LPGAT1', 'score': 22.28}, {'connected_gene': 'LOC102723727', 'score': 19.58}, {'connected_gene': 'NEK2', 'score': 10.5}, {'connected_gene': 'LOC91548', 'score': 10.5}, {'connected_gene': 'ENSG00000212187', 'score': 10.37}, {'connected_gene': 'ENSG00000233626', 'score': 0.31}, {'connected_gene': 'PIR53279', 'score': 0.28}]
chr1 GH01I211746 211746714 211748211 0.2 [{'connected_gene': 'LPGAT1', 'score': 20.7}, {'connected_gene': 'LOC102723727', 'score': 10.97}, {'connected_gene': 'ENSG00000212187', 'score': 10.43}, {'connected_gene': 'INTS7', 'score': 4.56}, {'connected_gene': 'PIR57135', 'score': 0.44}, {'connected_gene': 'PIR47428', 'score': 0.34}]
chr1 GH01I211745 211745249 211746636 0.2 [{'connected_gene': 'LPGAT1', 'score': 17.17}, {'connected_gene': 'LOC102723727', 'score': 10.49}, {'connected_gene': 'INTS7', 'score': 4.54}, {'connected_gene': 'PIR57135', 'score': 0.44}, {'connected_gene': 'PIR47428', 'score': 0.37}]
chr1 GH01I211760 211760713 211763368 0.43 [{'connected_gene': 'LPGAT1', 'score': 20.17}, {'connected_gene': 'LOC102723727', 'score': 10.44}, {'connected_gene': 'PIR57135', 'score': 0.44}, {'connected_gene': 'RN7SL344P', 'score': 0.29}]
chr1 GH01I211783 211783320 211784765 0.85 [{'connected_gene': 'LPGAT1', 'score': 20.94}, {'connected_gene': 'LOC102723727', 'score': 10.42}, {'connected_gene': 'RN7SL344P', 'score': 0.44}, {'connected_gene': 'PIR57135', 'score': 0.29}]
chr1 GH01I211748 211748934 211749677 0.2 [{'connected_gene': 'LPGAT1', 'score': 18.19}, {'connected_gene': 'LOC102723727', 'score': 10.97}, {'connected_gene': 'ENSG00000212187', 'score': 9.9}, {'connected_gene': 'PIR57135', 'score': 0.77}, {'connected_gene': 'PIR47428', 'score': 0.34}]
chr1 GH01I211827 211827601 211831828 2.18 [{'connected_gene': 'LPGAT1', 'score': 560.5}, {'connected_gene': 'LOC102723727', 'score': 550.77}, {'connected_gene': 'ENSG00000212205', 'score': 0.31}]
chr1 GH01I211890 211890917 211892078 0.38 [{'connected_gene': 'LPGAT1', 'score': 9.52}, {'connected_gene': 'PIR53279', 'score': 0.37}, {'connected_gene': 'ENSG00000233626', 'score': 0.26}]
chr1 GH01I211889 211889206 211890268 0.72 [{'connected_gene': 'RCOR3', 'score': 9.84}, {'connected_gene': 'LPGAT1', 'score': 8.81}, {'connected_gene': 'INTS7', 'score': 7.84}, {'connected_gene': 'PIR53279', 'score': 0.37}, {'connected_gene': 'ENSG00000233626', 'score': 0.25}]
chr1 GH01I211843 211843001 211843400 0.52 [{'connected_gene': 'RCOR3', 'score': 10.27}, {'connected_gene': 'LOC102723727', 'score': 0.39}, {'connected_gene': 'LPGAT1', 'score': 0.39}, {'connected_gene': 'GC01M211858', 'score': 0.31}]
chr1 GH01I211731 211731324 211732934 0.71 [{'connected_gene': 'DTL', 'score': 10.32}, {'connected_gene': 'INTS7', 'score': 10.32}, {'connected_gene': 'ENSG00000212187', 'score': 9.94}, {'connected_gene': 'LPGAT1', 'score': 4.82}, {'connected_gene': 'PIR47428', 'score': 0.77}, {'connected_gene': 'PIR57135', 'score': 0.34}]
chr1 GH01I211922 211922239 211925582 0.76 [{'connected_gene': 'NEK2', 'score': 10.82}, {'connected_gene': 'LOC91548', 'score': 10.82}, {'connected_gene': 'ENSG00000212187', 'score': 10.56}, {'connected_gene': 'LPGAT1', 'score': 8.49}, {'connected_gene': 'ENSG00000233626', 'score': 0.39}, {'connected_gene': 'PIR53279', 'score': 0.23}]
chr1 GH01I212033 212033933 212038524 2.32 [{'connected_gene': 'INTS7', 'score': 559.2}, {'connected_gene': 'DTL', 'score': 550.77}, {'connected_gene': 'RCOR3', 'score': 57.06}, {'connected_gene': 'RPL21P28', 'score': 10.84}, {'connected_gene': 'ANGEL2', 'score': 10.47}, {'connected_gene': 'NEK2', 'score': 10.36}, {'connected_gene': 'LOC91548', 'score': 10.36}, {'connected_gene': 'LPGAT1', 'score': 4.52}]
chr1 GH01I211774 211774313 211775608 0.43 [{'connected_gene': 'RN7SL344P', 'score': 0.37}, {'connected_gene': 'PIR57135', 'score': 0.34}, {'connected_gene': 'LPGAT1', 'score': 0.22}]
chr1 GH01I211696 211695411 211695854 0.84 [{'connected_gene': 'LOC102723727', 'score': 11.64}, {'connected_gene': 'LPGAT1', 'score': 11.28}, {'connected_gene': 'ENSG00000212187', 'score': 11.05}, {'connected_gene': 'PIR53316', 'score': 0.44}, {'connected_gene': 'LOC91548', 'score': 0.37}, {'connected_gene': 'LOC105372904', 'score': 0.31}]
chr1 GH01I211695 211695259 211695408 0.75 [{'connected_gene': 'LOC102723727', 'score': 11.64}, {'connected_gene': 'LPGAT1', 'score': 11.28}, {'connected_gene': 'ENSG00000212187', 'score': 11.05}, {'connected_gene': 'PIR53316', 'score': 0.44}, {'connected_gene': 'LOC91548', 'score': 0.37}, {'connected_gene': 'LOC105372904', 'score': 0.29}]
chr1 GH01I211698 211698201 211699400 1.2 [{'connected_gene': 'LOC102723727', 'score': 11.75}, {'connected_gene': 'LPGAT1', 'score': 11.47}, {'connected_gene': 'ENSG00000212187', 'score': 10.41}, {'connected_gene': 'TMEM206', 'score': 10.28}, {'connected_gene': 'PIR53316', 'score': 0.39}, {'connected_gene': 'LOC91548', 'score': 0.34}, {'connected_gene': 'LOC105372904', 'score': 0.31}]
chr1 GH01I211697 211697295 211698148 0.72 [{'connected_gene': 'LOC102723727', 'score': 11.75}, {'connected_gene': 'LPGAT1', 'score': 11.47}, {'connected_gene': 'ENSG00000212187', 'score': 11.05}, {'connected_gene': 'TMEM206', 'score': 10.28}, {'connected_gene': 'PIR53316', 'score': 0.39}, {'connected_gene': 'LOC91548', 'score': 0.34}, {'connected_gene': 'LOC105372904', 'score': 0.31}]
chr1 GH01I211749 211749783 211750541 0.31 [{'connected_gene': 'LOC102723727', 'score': 10.98}, {'connected_gene': 'LPGAT1', 'score': 10.97}, {'connected_gene': 'ENSG00000212187', 'score': 9.9}, {'connected_gene': 'TMEM206', 'score': 5.05}, {'connected_gene': 'PIR57135', 'score': 0.77}, {'connected_gene': 'PIR47428', 'score': 0.34}]
chr1 GH01I211680 211680359 211682140 1.05 [{'connected_gene': 'LOC102723727', 'score': 10.83}, {'connected_gene': 'LPGAT1', 'score': 10.83}, {'connected_gene': 'ENSG00000212187', 'score': 10.4}, {'connected_gene': 'DTL', 'score': 10.08}, {'connected_gene': 'INTS7', 'score': 10.08}, {'connected_gene': 'PIR53316', 'score': 0.44}, {'connected_gene': 'LOC91548', 'score': 0.44}]
chr1 GH01I211780 211780856 211782419 0.49 [{'connected_gene': 'LOC102723727', 'score': 11.61}, {'connected_gene': 'LPGAT1', 'score': 9.45}, {'connected_gene': 'INTS7', 'score': 4.57}, {'connected_gene': 'RN7SL344P', 'score': 0.39}, {'connected_gene': 'PIR57135', 'score': 0.31}]
chr1 GH01I211938 211938291 211939325 1.18 [{'connected_gene': 'LOC102723727', 'score': 16.66}, {'connected_gene': 'ENSG00000212187', 'score': 10.89}, {'connected_gene': 'LPGAT1', 'score': 10.78}, {'connected_gene': 'INTS7', 'score': 8.84}, {'connected_gene': 'ENSG00000233626', 'score': 0.77}, {'connected_gene': 'GC01P212026', 'score': 0.17}]
chr1 GH01I211750 211750739 211750888 0.58 [{'connected_gene': 'LOC102723727', 'score': 10.98}, {'connected_gene': 'LPGAT1', 'score': 10.97}, {'connected_gene': 'ENSG00000212187', 'score': 9.9}, {'connected_gene': 'PIR57135', 'score': 0.77}, {'connected_gene': 'PIR47428', 'score': 0.34}]
chr1 GH01I211932 211932401 211933399 0.54 [{'connected_gene': 'LOC102723727', 'score': 19.67}, {'connected_gene': 'LPGAT1', 'score': 11.49}, {'connected_gene': 'ENSG00000212187', 'score': 10.29}, {'connected_gene': 'ENSG00000233626', 'score': 0.77}, {'connected_gene': 'PIR53279', 'score': 0.21}]
chr1 GH01I211822 211822801 211823600 0.43 [{'connected_gene': 'LOC102723727', 'score': 0.44}, {'connected_gene': 'LPGAT1', 'score': 0.44}, {'connected_gene': 'ENSG00000212205', 'score': 0.34}]
chr1 GH01I211927 211927600 211931314 1.43 [{'connected_gene': 'LOC102723727', 'score': 19.68}, {'connected_gene': 'RCOR3', 'score': 12.15}, {'connected_gene': 'LPGAT1', 'score': 11.49}, {'connected_gene': 'NEK2', 'score': 10.96}, {'connected_gene': 'LOC91548', 'score': 10.96}, {'connected_gene': 'SNX25P1', 'score': 10.76}, {'connected_gene': 'ENSG00000212187', 'score': 10.57}, {'connected_gene': 'RPL21P28', 'score': 10.18}, {'connected_gene': 'INTS7', 'score': 9.98}, {'connected_gene': 'ENSG00000233626', 'score': 0.44}, {'connected_gene': 'PIR53279', 'score': 0.22}]
chr1 GH01I212254 212254013 212257599 1.58 [{'connected_gene': 'LOC101929541', 'score': 40.28}, {'connected_gene': 'PPP2R5A', 'score': 27.28}, {'connected_gene': 'TMEM206', 'score': 5.19}, {'connected_gene': 'LPGAT1', 'score': 4.08}, {'connected_gene': 'ATF3', 'score': 1.15}, {'connected_gene': 'GC01P212241', 'score': 0.39}]
chr1 GH01I211752 211752058 211753447 0.52 [{'connected_gene': 'PIR57135', 'score': 550.77}, {'connected_gene': 'LPGAT1', 'score': 20.71}, {'connected_gene': 'LOC102723727', 'score': 11.79}, {'connected_gene': 'ENSG00000212187', 'score': 10.01}, {'connected_gene': 'PIR47428', 'score': 0.31}]
chr1 GH01I211934 211934956 211936023 0.78 [{'connected_gene': 'ENSG00000233626', 'score': 550.77}, {'connected_gene': 'ENSG00000212187', 'score': 10.88}, {'connected_gene': 'LPGAT1', 'score': 10.79}, {'connected_gene': 'LOC102723727', 'score': 10.78}, {'connected_gene': 'PIR53279', 'score': 0.21}]
chr1 GH01I211738 211738164 211740836 1.26 [{'connected_gene': 'ENSG00000212187', 'score': 10.92}, {'connected_gene': 'NEK2', 'score': 10.53}, {'connected_gene': 'LOC91548', 'score': 10.53}, {'connected_gene': 'LPGAT1', 'score': 9.91}, {'connected_gene': 'PIR57135', 'score': 0.39}, {'connected_gene': 'PIR47428', 'score': 0.39}]
chr1 GH01I211753 211753687 211754524 0.76 [{'connected_gene': 'PIR57135', 'score': 550.77}, {'connected_gene': 'ENSG00000212187', 'score': 10.01}, {'connected_gene': 'RN7SL344P', 'score': 0.28}, {'connected_gene': 'LPGAT1', 'score': 0.18}]
chr1 GH01I211734 211734251 211736864 1.34 [{'connected_gene': 'ENSG00000212187', 'score': 11.04}, {'connected_gene': 'LOC102723727', 'score': 5.99}, {'connected_gene': 'LPGAT1', 'score': 4.57}, {'connected_gene': 'PIR47428', 'score': 0.44}, {'connected_gene': 'PIR57135', 'score': 0.37}]

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