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
ENST00000391878 [[223967600, 223968596], [223971816, 223972016], [223976709, 223976876], [223980090, 223980224], [223981004, 223981142], [223983516, 223984292], [223985916, 223986379], [223987600, 223987749], [223988401, 223988512], [223989817, 223990046], [223990432, 223990597], [223990972, 223991154], [223991875, 223992050], [223994547, 223994649], [223998132, 223998215], [224001941, 224002055], [224005907, 224006039], [224008921, 224009069], [224033355, 224033632]] [[223968554, 223968596], [223971816, 223972016], [223976709, 223976876], [223980090, 223980224], [223981004, 223981142], [223983516, 223984292], [223985916, 223986379], [223987600, 223987749], [223988401, 223988512], [223989817, 223990046], [223990432, 223990597], [223990972, 223991154], [223991875, 223992050], [223994547, 223994634]]
ENST00000343537 [[223967600, 223968596], [223971816, 223972016], [223976709, 223976876], [223980090, 223980224], [223981004, 223981142], [223983516, 223984292], [223985916, 223986379], [223987600, 223987749], [223988401, 223988512], [223989817, 223990046], [223990432, 223990597], [223990972, 223991154], [223991875, 223992050], [223994547, 223994649], [223998132, 223998215], [224001941, 224002055], [224008921, 224009069], [224033355, 224033674]] [[223968554, 223968596], [223971816, 223972016], [223976709, 223976876], [223980090, 223980224], [223981004, 223981142], [223983516, 223984292], [223985916, 223986379], [223987600, 223987749], [223988401, 223988512], [223989817, 223990046], [223990432, 223990597], [223990972, 223991154], [223991875, 223992050], [223994547, 223994649], [223998132, 223998215], [224001941, 224002055], [224008921, 224009069], [224033355, 224033382]]
ENST00000496282 [[223991936, 223992050], [223994547, 223994649], [223998132, 223998215], [224001941, 224002055], [224008770, 224008838]] None
ENST00000473135 [[223994612, 223994649], [223998132, 223998215], [224001941, 224002055], [224008921, 224009069], [224013586, 224013771]] None
ENST00000465119 [[223998165, 223998215], [224001941, 224002055], [224033355, 224033656]] [[223998212, 223998215], [224001941, 224002055], [224033355, 224033382]]
ENST00000472180 [[224001877, 224002055], [224008921, 224009069], [224033355, 224033496]] None
ENST00000483398 [[223968346, 223968596], [223971816, 223972016], [223976709, 223976876], [223980090, 223980224], [223981004, 223981142], [223983516, 223984292], [223987600, 223987749], [223988401, 223988428]] [[223984274, 223984292], [223987600, 223987749], [223988401, 223988428]]
ENST00000391879 [[223968346, 223968596], [223971816, 223972016], [223976709, 223976876], [223980090, 223980224], [223981004, 223981142], [223983516, 223984292], [223987600, 223987749], [223988401, 223988428]] [[223968554, 223968596], [223971816, 223972016], [223976709, 223976876], [223980090, 223980224], [223981004, 223981142], [223983516, 223983939]]
ENST00000498843 [[223968490, 223968596], [223971816, 223972016], [223976709, 223976876], [223980090, 223980224], [223981004, 223981142], [223983516, 223984292], [223985916, 223986379], [223987600, 223987749], [223988401, 223988512], [223989817, 223990046], [223990130, 223990438]] None
ENST00000494100 [[223983539, 223983825], [223991909, 223992050], [223994547, 223994649], [223998132, 223998215], [224001941, 224002030]] [[223983539, 223983825], [223991909, 223992050], [223994547, 223994649], [223998132, 223998215], [224001941, 224002030]]
ENST00000464656 [[223983875, 223984292], [223987600, 223987749], [223988401, 223988428]] [[223984274, 223984292], [223987600, 223987749], [223988401, 223988428]]
ENST00000489310 [[223987618, 223987749], [223988401, 223988512], [223989817, 223990046], [223990371, 223990433]] None
ENST00000490896 [[223988477, 223988512], [223989817, 223990359]] None
ENST00000481128 [[223989640, 223990046], [223990432, 223990597], [223990972, 223991032]] None
ENST00000464172 [[223990002, 223990046], [223990432, 223990925]] None
NM_005426 [[223967594, 223968596], [223971816, 223972016], [223976709, 223976876], [223980090, 223980224], [223981004, 223981142], [223983516, 223984292], [223985916, 223986379], [223987600, 223987749], [223988401, 223988512], [223989817, 223990046], [223990432, 223990597], [223990972, 223991154], [223991875, 223992050], [223994547, 223994649], [223998132, 223998215], [224001941, 224002055], [224005907, 224006039], [224008921, 224009069], [224033355, 224033674]] [[223968554, 223968596], [223971816, 223972016], [223976709, 223976876], [223980090, 223980224], [223981004, 223981142], [223983516, 223984292], [223985916, 223986379], [223987600, 223987749], [223988401, 223988512], [223989817, 223990046], [223990432, 223990597], [223990972, 223991154], [223991875, 223992050], [223994547, 223994634]]
NM_001031685 [[223967594, 223968596], [223971816, 223972016], [223976709, 223976876], [223980090, 223980224], [223981004, 223981142], [223983516, 223984292], [223985916, 223986379], [223987600, 223987749], [223988401, 223988512], [223989817, 223990046], [223990432, 223990597], [223990972, 223991154], [223991875, 223992050], [223994547, 223994649], [223998132, 223998215], [224001941, 224002055], [224008921, 224009069], [224033355, 224033674]] [[223968554, 223968596], [223971816, 223972016], [223976709, 223976876], [223980090, 223980224], [223981004, 223981142], [223983516, 223984292], [223985916, 223986379], [223987600, 223987749], [223988401, 223988512], [223989817, 223990046], [223990432, 223990597], [223990972, 223991154], [223991875, 223992050], [223994547, 223994649], [223998132, 223998215], [224001941, 224002055], [224008921, 224009069], [224033355, 224033382]]
Promoter
Chrom Start End Description
chr1 223984197 223984211 CAGE_peak_22_at_TP53BP2_5end
chr1 223986356 223986361 CAGE_peak_15_at_TP53BP2_5end
chr1 223988426 223988448 CAGE_peak_20_at_TP53BP2_5end
chr1 223990320 223990329 CAGE_peak_14_at_TP53BP2_5end
chr1 223990330 223990373 CAGE_peak_2_at_TP53BP2_5end
chr1 223990460 223990534 CAGE_peak_3_at_TP53BP2_5end
chr1 223991054 223991065 CAGE_peak_17_at_TP53BP2_5end
chr1 223991082 223991096 CAGE_peak_7_at_TP53BP2_5end
chr1 224033490 224033510 CAGE_peak_6_at_TP53BP2_5end
chr1 224033515 224033533 CAGE_peak_5_at_TP53BP2_5end
chr1 224033536 224033567 CAGE_peak_4_at_TP53BP2_5end
chr1 224033596 224033697 CAGE_peak_1_at_TP53BP2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I223787 223787206 223790611 0.99 [{'connected_gene': 'CAPN2', 'score': 17.13}, {'connected_gene': 'WDR26', 'score': 11.16}, {'connected_gene': 'NVL', 'score': 10.13}, {'connected_gene': 'TP53BP2', 'score': 8.83}, {'connected_gene': 'GTF2IP20', 'score': 5.17}, {'connected_gene': 'GC01P223795', 'score': 0.44}, {'connected_gene': 'GC01M223774', 'score': 0.39}]
chr1 GH01I223710 223710431 223722216 2.82 [{'connected_gene': 'CAPN2', 'score': 579.21}, {'connected_gene': 'CICP5', 'score': 85.99}, {'connected_gene': 'NVL', 'score': 84.61}, {'connected_gene': 'LOC100287497', 'score': 47.33}, {'connected_gene': 'TP53BP2', 'score': 27.69}, {'connected_gene': 'WDR26', 'score': 27.45}, {'connected_gene': 'CAPN8', 'score': 14.59}, {'connected_gene': 'GTF2IP20', 'score': 12.95}, {'connected_gene': 'FBXO28', 'score': 11.41}, {'connected_gene': 'RNU6-1248P', 'score': 11.06}, {'connected_gene': 'LOC105373281', 'score': 0.44}, {'connected_gene': 'GC01P223725', 'score': 0.44}]
chr1 GH01I223759 223759741 223761433 0.56 [{'connected_gene': 'CAPN2', 'score': 9.14}, {'connected_gene': 'TP53BP2', 'score': 5.62}, {'connected_gene': 'LOC105373041', 'score': 0.39}, {'connected_gene': 'LOC105373046', 'score': 0.34}]
chr1 GH01I223812 223812989 223814341 0.38 [{'connected_gene': 'CAPN2', 'score': 16.61}, {'connected_gene': 'TP53BP2', 'score': 12.51}, {'connected_gene': 'GC01M223821', 'score': 0.37}, {'connected_gene': 'GC01P223795', 'score': 0.37}]
chr1 GH01I223799 223799212 223805027 0.49 [{'connected_gene': 'CAPN2', 'score': 18.91}, {'connected_gene': 'TP53BP2', 'score': 7.39}, {'connected_gene': 'GC01P223795', 'score': 0.44}, {'connected_gene': 'GC01M223821', 'score': 0.31}]
chr1 GH01I223780 223780682 223781702 0.4 [{'connected_gene': 'CAPN2', 'score': 11.47}, {'connected_gene': 'GC01M223774', 'score': 0.77}, {'connected_gene': 'GC01P223795', 'score': 0.39}, {'connected_gene': 'TP53BP2', 'score': 0.21}]
chr1 GH01I223791 223791772 223793170 0.4 [{'connected_gene': 'CAPN2', 'score': 17.72}, {'connected_gene': 'NVL', 'score': 10.13}, {'connected_gene': 'TP53BP2', 'score': 8.31}, {'connected_gene': 'GC01P223795', 'score': 0.77}, {'connected_gene': 'GC01M223774', 'score': 0.39}]
chr1 GH01I223782 223782260 223784444 0.57 [{'connected_gene': 'CAPN2', 'score': 18.67}, {'connected_gene': 'GTF2IP20', 'score': 6.16}, {'connected_gene': 'TP53BP2', 'score': 5.8}, {'connected_gene': 'GC01M223774', 'score': 0.44}, {'connected_gene': 'GC01P223795', 'score': 0.39}]
chr1 GH01I223769 223769475 223773465 1.45 [{'connected_gene': 'WDR26', 'score': 30.32}, {'connected_gene': 'CICP5', 'score': 24.37}, {'connected_gene': 'CAPN2', 'score': 19.46}, {'connected_gene': 'NVL', 'score': 12.69}, {'connected_gene': 'LOC100287497', 'score': 11.78}, {'connected_gene': 'CAPN8', 'score': 10.85}, {'connected_gene': 'GTF2IP20', 'score': 10.5}, {'connected_gene': 'TP53BP2', 'score': 7.14}, {'connected_gene': 'LOC105373041', 'score': 0.77}, {'connected_gene': 'LOC105373046', 'score': 0.29}]
chr1 GH01I223819 223819299 223820894 1.11 [{'connected_gene': 'CICP5', 'score': 17.0}, {'connected_gene': 'NVL', 'score': 13.19}, {'connected_gene': 'TP53BP2', 'score': 12.78}, {'connected_gene': 'LOC100287497', 'score': 11.18}, {'connected_gene': 'WDR26', 'score': 10.4}, {'connected_gene': 'GTF2IP20', 'score': 10.16}, {'connected_gene': 'CAPN2', 'score': 7.6}, {'connected_gene': 'GC01M223821', 'score': 0.44}, {'connected_gene': 'GC01P223795', 'score': 0.34}]
chr1 GH01I223825 223825002 223827799 1.52 [{'connected_gene': 'TP53BP2', 'score': 33.13}, {'connected_gene': 'CAPN2', 'score': 17.42}, {'connected_gene': 'FBXO28', 'score': 2.01}, {'connected_gene': 'GC01M223821', 'score': 0.77}, {'connected_gene': 'GC01P223795', 'score': 0.29}]
chr1 GH01I223810 223810759 223810848 0.2 [{'connected_gene': 'TP53BP2', 'score': 11.99}, {'connected_gene': 'CAPN2', 'score': 10.37}, {'connected_gene': 'GC01M223821', 'score': 0.37}, {'connected_gene': 'GC01P223795', 'score': 0.37}]
chr1 GH01I223823 223823201 223823400 0.51 [{'connected_gene': 'TP53BP2', 'score': 12.85}, {'connected_gene': 'CAPN2', 'score': 10.31}, {'connected_gene': 'GC01M223821', 'score': 0.44}, {'connected_gene': 'GC01P223795', 'score': 0.31}]
chr1 GH01I223811 223811719 223811868 0.69 [{'connected_gene': 'TP53BP2', 'score': 12.01}, {'connected_gene': 'WDR26', 'score': 11.16}, {'connected_gene': 'CAPN2', 'score': 10.36}, {'connected_gene': 'GC01M223821', 'score': 0.37}, {'connected_gene': 'GC01P223795', 'score': 0.37}]
chr1 GH01I223844 223844059 223847446 2.56 [{'connected_gene': 'TP53BP2', 'score': 571.23}, {'connected_gene': 'GC01P223846', 'score': 550.77}, {'connected_gene': 'GC01P223847', 'score': 550.77}, {'connected_gene': 'CICP5', 'score': 75.44}, {'connected_gene': 'NVL', 'score': 51.64}, {'connected_gene': 'LOC100287497', 'score': 45.82}, {'connected_gene': 'CAPN2', 'score': 25.6}, {'connected_gene': 'FBXO28', 'score': 21.65}, {'connected_gene': 'WDR26', 'score': 20.96}, {'connected_gene': 'CNIH4', 'score': 9.89}, {'connected_gene': 'GTF2IP20', 'score': 8.01}, {'connected_gene': 'GC01M223821', 'score': 0.37}]
chr1 GH01I223831 223831002 223837799 1.6 [{'connected_gene': 'TP53BP2', 'score': 29.85}, {'connected_gene': 'NVL', 'score': 26.99}, {'connected_gene': 'CICP5', 'score': 18.33}, {'connected_gene': 'CAPN2', 'score': 18.22}, {'connected_gene': 'GTF2IP20', 'score': 10.17}, {'connected_gene': 'LOC100287497', 'score': 10.1}, {'connected_gene': 'CAPN8', 'score': 8.73}, {'connected_gene': 'FBXO28', 'score': 2.04}, {'connected_gene': 'GC01M223821', 'score': 0.44}]
chr1 GH01I223864 223864402 223864799 0.2 [{'connected_gene': 'ACTBP11', 'score': 550.77}, {'connected_gene': 'CAPN2', 'score': 10.43}, {'connected_gene': 'TP53BP2', 'score': 8.31}, {'connected_gene': 'PHBP11', 'score': 0.44}]
chr1 GH01I223784 223784955 223786852 0.82 [{'connected_gene': 'NVL', 'score': 26.32}, {'connected_gene': 'CICP5', 'score': 19.04}, {'connected_gene': 'LOC100287497', 'score': 11.54}, {'connected_gene': 'CAPN2', 'score': 11.0}, {'connected_gene': 'DISP1', 'score': 10.07}, {'connected_gene': 'GTF2IP20', 'score': 6.88}, {'connected_gene': 'TP53BP2', 'score': 6.79}, {'connected_gene': 'GC01M223774', 'score': 0.44}, {'connected_gene': 'GC01P223795', 'score': 0.44}]
chr1 GH01I223841 223841001 223841200 0.78 [{'connected_gene': 'GTF2IP20', 'score': 9.98}, {'connected_gene': 'CAPN2', 'score': 9.8}, {'connected_gene': 'TP53BP2', 'score': 0.77}, {'connected_gene': 'GC01M223821', 'score': 0.39}]
chr1 GH01I223886 223886749 223886988 0.91 [{'connected_gene': 'GTF2IP20', 'score': 7.02}, {'connected_gene': 'TP53BP2', 'score': 5.39}, {'connected_gene': 'GC01M223898', 'score': 0.39}, {'connected_gene': 'GC01M223868', 'score': 0.37}]
chr1 GH01I223838 223838201 223838600 0.73 [{'connected_gene': 'GTF2IP20', 'score': 8.76}, {'connected_gene': 'GC01M223821', 'score': 0.44}, {'connected_gene': 'TP53BP2', 'score': 0.44}]
chr1 GH01I223774 223774178 223777724 1.47 [{'connected_gene': 'LOC105373041', 'score': 550.77}, {'connected_gene': 'GC01M223774', 'score': 550.77}, {'connected_gene': 'TP53BP2', 'score': 28.13}, {'connected_gene': 'CAPN2', 'score': 18.3}, {'connected_gene': 'GTF2IP20', 'score': 10.64}, {'connected_gene': 'FBXO28', 'score': 2.42}]
chr1 GH01I224052 224052419 224054213 0.71 [{'connected_gene': 'LOC101927143', 'score': 5.56}, {'connected_gene': 'DEGS1', 'score': 5.25}, {'connected_gene': 'TP53BP2', 'score': 4.28}, {'connected_gene': 'LOC105373061', 'score': 0.44}, {'connected_gene': 'ENSG00000229930', 'score': 0.37}]
chr1 GH01I224168 224168402 224171316 1.31 [{'connected_gene': 'LOC101927143', 'score': 38.7}, {'connected_gene': 'LOC101927164', 'score': 12.0}, {'connected_gene': 'NVL', 'score': 10.8}, {'connected_gene': 'CNIH4', 'score': 10.58}, {'connected_gene': 'TP53BP2', 'score': 8.67}, {'connected_gene': 'DEGS1', 'score': 6.07}, {'connected_gene': 'FBXO28', 'score': 1.43}, {'connected_gene': 'WDR26', 'score': 1.38}, {'connected_gene': 'GC01M224176', 'score': 0.44}]
chr1 GH01I223795 223795694 223796663 0.46 [{'connected_gene': 'GC01P223795', 'score': 550.77}, {'connected_gene': 'CAPN2', 'score': 11.0}, {'connected_gene': 'GC01M223821', 'score': 0.29}, {'connected_gene': 'TP53BP2', 'score': 0.25}]
chr1 GH01I223829 223829393 223830829 0.49 [{'connected_gene': 'GC01M223821', 'score': 550.77}, {'connected_gene': 'CAPN2', 'score': 15.92}, {'connected_gene': 'GTF2IP20', 'score': 10.22}, {'connected_gene': 'TP53BP2', 'score': 0.37}]
chr1 GH01I223793 223793259 223795089 0.92 [{'connected_gene': 'GC01P223795', 'score': 550.77}, {'connected_gene': 'CAPN2', 'score': 10.71}, {'connected_gene': 'GTF2IP20', 'score': 5.63}, {'connected_gene': 'GC01M223774', 'score': 0.37}, {'connected_gene': 'TP53BP2', 'score': 0.23}]
chr1 GH01I223870 223870155 223871637 1.03 [{'connected_gene': 'GC01M223868', 'score': 550.77}, {'connected_gene': 'TP53BP2', 'score': 11.96}, {'connected_gene': 'CAPN2', 'score': 10.4}, {'connected_gene': 'GTF2IP20', 'score': 6.18}, {'connected_gene': 'ACTBP11', 'score': 0.44}]
chr1 GH01I223722 223722418 223728531 1.77 [{'connected_gene': 'GC01P223725', 'score': 550.77}, {'connected_gene': 'TP53BP2', 'score': 37.83}, {'connected_gene': 'NVL', 'score': 33.81}, {'connected_gene': 'CAPN2', 'score': 29.98}, {'connected_gene': 'CICP5', 'score': 12.56}, {'connected_gene': 'RNU6-1248P', 'score': 11.17}, {'connected_gene': 'CAPN8', 'score': 5.57}, {'connected_gene': 'FBXO28', 'score': 1.76}, {'connected_gene': 'GC01M223727', 'score': 0.77}, {'connected_gene': 'LOC105373281', 'score': 0.37}]
chr1 GH01I223873 223873219 223873368 0.83 [{'connected_gene': 'GC01M223868', 'score': 550.77}, {'connected_gene': 'TP53BP2', 'score': 11.94}, {'connected_gene': 'GC01M223898', 'score': 0.31}]

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