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
ENST00000359660 [[107194735, 107197561], [107216737, 107216880], [107356625, 107356702], [107521817, 107521948], [107559821, 107559929], [107684099, 107684231], [107700438, 107700696], [107703531, 107703654], [107716399, 107717111]] [[107197420, 107197561], [107216737, 107216880], [107356625, 107356702], [107521817, 107521948], [107559821, 107559929], [107684099, 107684231], [107700438, 107700618]]
ENST00000542267 [[107194745, 107197561], [107216737, 107216880], [107356625, 107356702], [107521817, 107521948], [107559821, 107559929], [107684099, 107684231], [107700438, 107700696], [107703531, 107703654], [107716399, 107717799]] [[107197420, 107197561], [107216737, 107216880], [107356625, 107356702], [107521817, 107521948], [107559821, 107559929], [107684099, 107684231], [107700438, 107700696], [107703531, 107703654], [107716399, 107717392]]
ENST00000496714 [[107213937, 107216880], [107356625, 107356702], [107521817, 107521948], [107559821, 107559929], [107684099, 107684231], [107700438, 107700696], [107703531, 107703655]] [[107216563, 107216880], [107356625, 107356702], [107521817, 107521948], [107559821, 107559929], [107684099, 107684231], [107700438, 107700618]]
ENST00000481160 [[107356499, 107356702], [107521817, 107521948], [107559821, 107559929], [107684099, 107684231], [107700438, 107700468]] None
ENST00000518486 [[107700523, 107700696], [107703531, 107703654], [107716399, 107716664]] None
NM_001163315 [[107194733, 107197561], [107216737, 107216880], [107356625, 107356702], [107521817, 107521948], [107559821, 107559929], [107684099, 107684231], [107700438, 107700696], [107703531, 107703654], [107716399, 107717799]] [[107197420, 107197561], [107216737, 107216880], [107356625, 107356702], [107521817, 107521948], [107559821, 107559929], [107684099, 107684231], [107700438, 107700696], [107703531, 107703654], [107716399, 107717392]]
Promoter
Chrom Start End Description
chr5 107703556 107703571 CAGE_peak_24_at_FBXL17_5end
chr5 107716423 107716466 CAGE_peak_9_at_FBXL17_5end
chr5 107716512 107716549 CAGE_peak_13_at_FBXL17_5end
chr5 107716825 107716836 CAGE_peak_18_at_FBXL17_5end
chr5 107717058 107717155 CAGE_peak_1_at_FBXL17_5end
chr5 107717158 107717170 CAGE_peak_10_at_FBXL17_5end
chr5 107717357 107717451 CAGE_peak_3_at_FBXL17_5end
chr5 107717465 107717513 CAGE_peak_5_at_FBXL17_5end
chr5 107717725 107717742 CAGE_peak_7_at_FBXL17_5end
chr5 107717758 107717778 CAGE_peak_4_at_FBXL17_5end
chr5 107717782 107717805 CAGE_peak_2_at_FBXL17_5end
chr5 107717811 107717830 CAGE_peak_11_at_FBXL17_5end
chr5 107717914 107717949 CAGE_peak_14_at_FBXL17_5end
chr5 107718031 107718064 CAGE_peak_6_at_FBXL17_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I108560 108560147 108562509 0.85 [{'connected_gene': 'FBXL17', 'score': 5.31}, {'connected_gene': 'GC05P108543', 'score': 0.37}, {'connected_gene': 'RPS20P3', 'score': 0.29}]
chr5 GH05I108554 108554801 108555000 0.2 [{'connected_gene': 'FBXL17', 'score': 5.7}, {'connected_gene': 'GC05P108543', 'score': 0.39}, {'connected_gene': 'RPS20P3', 'score': 0.28}]
chr5 GH05I108379 108379734 108384001 2.3 [{'connected_gene': 'FBXL17', 'score': 555.02}, {'connected_gene': 'FER', 'score': 9.82}, {'connected_gene': 'GC05P108054', 'score': 0.05}]
chr5 GH05I107964 107964162 107967275 0.89 [{'connected_gene': 'FBXL17', 'score': 9.45}, {'connected_gene': 'GC05P107897', 'score': 0.2}, {'connected_gene': 'GC05P108054', 'score': 0.17}]
chr5 GH05I108219 108219402 108219740 0.22 [{'connected_gene': 'FBXL17', 'score': 0.1}, {'connected_gene': 'GC05P108054', 'score': 0.1}]
chr5 GH05I108260 108260401 108261329 0.92 [{'connected_gene': 'FBXL17', 'score': 0.13}, {'connected_gene': 'GC05P108054', 'score': 0.08}]
chr5 GH05I108378 108378601 108378800 0.63 [{'connected_gene': 'FBXL17', 'score': 0.77}, {'connected_gene': 'GC05P108054', 'score': 0.05}]
chr5 GH05I108077 108077362 108081521 0.51 [{'connected_gene': 'FBXL17', 'score': 10.28}, {'connected_gene': 'GC05P108054', 'score': 0.34}]
chr5 GH05I108295 108295547 108296336 0.31 [{'connected_gene': 'FBXL17', 'score': 0.17}, {'connected_gene': 'GC05P108054', 'score': 0.07}]
chr5 GH05I108074 108074497 108075008 0.2 [{'connected_gene': 'FBXL17', 'score': 7.38}, {'connected_gene': 'GC05P108054', 'score': 0.37}]
chr5 GH05I108459 108459818 108460042 0.44 [{'connected_gene': 'LOC105379114', 'score': 0.44}, {'connected_gene': 'FBXL17', 'score': 0.18}]
chr5 GH05I108193 108193102 108194018 0.38 [{'connected_gene': 'GC05P108054', 'score': 0.12}, {'connected_gene': 'FBXL17', 'score': 0.09}]
chr5 GH05I108002 108002740 108003828 0.88 [{'connected_gene': 'GC05P108054', 'score': 0.23}, {'connected_gene': 'GC05P107897', 'score': 0.14}, {'connected_gene': 'FBXL17', 'score': 0.05}]
chr5 GH05I108212 108212920 108213189 0.7 [{'connected_gene': 'GC05P108054', 'score': 0.1}, {'connected_gene': 'FBXL17', 'score': 0.1}]
chr5 GH05I107997 107997720 107997869 0.31 [{'connected_gene': 'GC05P108054', 'score': 0.22}, {'connected_gene': 'GC05P107897', 'score': 0.15}, {'connected_gene': 'FBXL17', 'score': 0.05}]
chr5 GH05I107937 107937634 107938133 0.49 [{'connected_gene': 'GC05P107897', 'score': 0.26}, {'connected_gene': 'GC05P108054', 'score': 0.13}, {'connected_gene': 'FBXL17', 'score': 0.04}]
chr5 GH05I108084 108084201 108084400 0.43 [{'connected_gene': 'GC05P108054', 'score': 0.31}, {'connected_gene': 'FBXL17', 'score': 0.06}]
chr5 GH05I107938 107937300 107937449 0.38 [{'connected_gene': 'GC05P107897', 'score': 0.28}, {'connected_gene': 'GC05P108054', 'score': 0.13}, {'connected_gene': 'FBXL17', 'score': 0.04}]
chr5 GH05I107968 107968913 107969769 0.31 [{'connected_gene': 'GC05P107897', 'score': 0.19}, {'connected_gene': 'GC05P108054', 'score': 0.17}, {'connected_gene': 'FBXL17', 'score': 0.05}]
chr5 GH05I107668 107668177 107674001 2.22 [{'connected_gene': 'GC05P107669', 'score': 550.77}, {'connected_gene': 'EFNA5', 'score': 550.77}, {'connected_gene': 'FBXL17', 'score': 4.34}, {'connected_gene': 'GC05P107680', 'score': 0.44}]
chr5 GH05I107893 107893639 107894400 0.38 [{'connected_gene': 'GC05P107897', 'score': 0.77}, {'connected_gene': 'RN7SKP122', 'score': 0.18}, {'connected_gene': 'FBXL17', 'score': 0.04}]
chr5 GH05I107886 107886896 107889976 0.63 [{'connected_gene': 'GC05P107897', 'score': 0.44}, {'connected_gene': 'RN7SKP122', 'score': 0.18}, {'connected_gene': 'FBXL17', 'score': 0.04}]
chr5 GH05I107868 107868922 107870577 0.8 [{'connected_gene': 'GC05P107897', 'score': 0.31}, {'connected_gene': 'RN7SKP122', 'score': 0.22}, {'connected_gene': 'FBXL17', 'score': 0.03}]
chr5 GH05I107874 107874590 107875477 0.31 [{'connected_gene': 'GC05P107897', 'score': 0.34}, {'connected_gene': 'RN7SKP122', 'score': 0.21}, {'connected_gene': 'FBXL17', 'score': 0.03}]
chr5 GH05I107875 107875480 107876302 0.2 [{'connected_gene': 'GC05P107897', 'score': 0.34}, {'connected_gene': 'RN7SKP122', 'score': 0.2}, {'connected_gene': 'FBXL17', 'score': 0.03}]