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
ENST00000554070 [[75120139, 75120201], [75123581, 75123640], [75123771, 75123865], [75127594, 75127643], [75130214, 75130525], [75130601, 75130768]] [[75130422, 75130525], [75130601, 75130768]]
ENST00000557401 [[75126923, 75127643], [75130601, 75130777], [75131538, 75131628], [75134021, 75134080], [75134167, 75134297], [75136351, 75136477], [75136649, 75136829], [75137464, 75137574], [75138110, 75138186], [75139533, 75139655], [75139779, 75139921], [75140736, 75140814], [75142401, 75142649], [75142843, 75143024], [75143285, 75143455], [75149998, 75150236], [75151156, 75151383], [75152302, 75152363], [75158743, 75159031], [75179635, 75179811]] None
ENST00000356357 [[75127954, 75130525], [75130601, 75130777], [75131538, 75131628], [75134021, 75134080], [75134167, 75134297], [75136351, 75136477], [75136649, 75136829], [75137464, 75137574], [75138110, 75138186], [75139533, 75139655], [75139779, 75139921], [75140736, 75140814], [75142401, 75142649], [75142843, 75143024], [75143285, 75143455], [75149998, 75150236], [75151156, 75151383], [75152302, 75152363], [75158743, 75159031], [75179635, 75179818]] [[75130422, 75130525], [75130601, 75130777], [75131538, 75131628], [75134021, 75134080], [75134167, 75134297], [75136351, 75136477], [75136649, 75136829], [75137464, 75137574], [75138110, 75138186], [75139533, 75139655], [75139779, 75139921], [75140736, 75140814], [75142401, 75142649], [75142843, 75143024], [75143285, 75143455], [75149998, 75150236], [75151156, 75151383], [75152302, 75152318]]
ENST00000555330 [[75127974, 75130525], [75130601, 75130777], [75131538, 75131628], [75134021, 75134080], [75134167, 75134297], [75136351, 75136477], [75136649, 75136829], [75138110, 75138186], [75139533, 75139655], [75139779, 75139921], [75140736, 75140814], [75142401, 75142649], [75142843, 75143024], [75143285, 75143455], [75149998, 75150236], [75151156, 75151383], [75152302, 75152363]] [[75136812, 75136829], [75138110, 75138186], [75139533, 75139655], [75139779, 75139921], [75140736, 75140814], [75142401, 75142649], [75142843, 75143024], [75143285, 75143455], [75149998, 75150236], [75151156, 75151383], [75152302, 75152318]]
ENST00000557688 [[75130373, 75130777], [75131538, 75131657]] None
ENST00000556202 [[75130516, 75130525], [75130601, 75130777], [75131538, 75131628], [75134021, 75134080], [75134167, 75134297], [75136351, 75136477], [75136649, 75136829], [75137464, 75137574], [75138110, 75138186], [75139533, 75139655], [75139779, 75139921], [75140736, 75140814], [75142401, 75142649], [75142843, 75143024], [75143285, 75143455], [75149998, 75150236], [75152302, 75152363], [75158743, 75159031], [75179635, 75179790]] [[75130516, 75130525], [75130601, 75130777], [75131538, 75131628], [75134021, 75134080], [75134167, 75134297], [75136351, 75136477], [75136649, 75136829], [75137464, 75137574], [75138110, 75138186], [75139533, 75139655], [75139779, 75139921], [75140736, 75140814], [75142401, 75142649], [75142843, 75143024], [75143285, 75143453]]
ENST00000481010 [[75136389, 75136477], [75136649, 75136845], [75137464, 75137574], [75138110, 75138186], [75138671, 75138723], [75139533, 75139655], [75139779, 75139921], [75140736, 75140814], [75142401, 75142411]] [[75138717, 75138723], [75139533, 75139655], [75139779, 75139921], [75140736, 75140814], [75142401, 75142411]]
ENST00000556327 [[75136773, 75136829], [75137464, 75137574], [75138110, 75138186], [75139533, 75139655], [75139779, 75139921], [75140736, 75140814], [75142401, 75142727]] None
ENST00000469797 [[75137344, 75137574], [75138110, 75138186], [75139533, 75139655], [75139779, 75139921], [75140736, 75140814], [75142401, 75142649], [75142843, 75143024], [75143285, 75143455], [75149998, 75150236], [75151156, 75151383], [75152302, 75152363], [75158743, 75159031], [75179635, 75179770]] None
ENST00000490805 [[75139886, 75139921], [75140736, 75140814], [75142443, 75142649], [75142843, 75142918]] [[75139886, 75139921], [75140736, 75140814], [75142443, 75142649], [75142843, 75142918]]
ENST00000553411 [[75142490, 75142649], [75142843, 75143024], [75143285, 75143455], [75144881, 75145032], [75149998, 75150098]] [[75144886, 75145032], [75149998, 75150098]]
ENST00000553279 [[75142568, 75142649], [75142843, 75143024], [75143285, 75143455], [75151156, 75151383], [75152302, 75152349]] [[75143398, 75143455], [75151156, 75151383], [75152302, 75152318]]
ENST00000556589 [[75149998, 75150236], [75152302, 75152363], [75158743, 75159031], [75165466, 75165559], [75179635, 75179801]] None
ENST00000555249 [[75150091, 75150236], [75151156, 75151383], [75152302, 75152363], [75179635, 75179783]] [[75150091, 75150236], [75151156, 75151383], [75152302, 75152318]]
ENST00000473934 [[75157761, 75157853], [75158743, 75159031], [75179635, 75179790]] None
ENST00000554525 [[75158718, 75159031], [75179556, 75179646]] None
ENST00000556860 [[75158804, 75159031], [75165466, 75165559], [75168371, 75168477], [75179635, 75179790]] None
NM_001039479 [[75127954, 75130525], [75130601, 75130777], [75131538, 75131628], [75134021, 75134080], [75134167, 75134297], [75136351, 75136477], [75136649, 75136829], [75137464, 75137574], [75138110, 75138186], [75139533, 75139655], [75139779, 75139921], [75140736, 75140814], [75142401, 75142649], [75142843, 75143024], [75143285, 75143455], [75149998, 75150236], [75151156, 75151383], [75152302, 75152363], [75158743, 75159031], [75179635, 75179807]] [[75130422, 75130525], [75130601, 75130777], [75131538, 75131628], [75134021, 75134080], [75134167, 75134297], [75136351, 75136477], [75136649, 75136829], [75137464, 75137574], [75138110, 75138186], [75139533, 75139655], [75139779, 75139921], [75140736, 75140814], [75142401, 75142649], [75142843, 75143024], [75143285, 75143455], [75149998, 75150236], [75151156, 75151383], [75152302, 75152318]]
Promoter
Chrom Start End Description
chr14 75179774 75179816 CAGE_peak_1_at_KIAA0317_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I074670 74670591 74672708 0.51 [{'connected_gene': 'AREL1', 'score': 21.21}, {'connected_gene': 'FCF1', 'score': 11.68}, {'connected_gene': 'LTBP2', 'score': 11.52}, {'connected_gene': 'ENSG00000222604', 'score': 11.12}, {'connected_gene': 'YLPM1', 'score': 11.11}, {'connected_gene': 'SYNDIG1L', 'score': 9.13}, {'connected_gene': 'DLST', 'score': 4.37}, {'connected_gene': 'GC14M074665', 'score': 0.77}]
chr14 GH14I074630 74630748 74631771 0.51 [{'connected_gene': 'AREL1', 'score': 6.1}, {'connected_gene': 'LTBP2', 'score': 0.39}, {'connected_gene': 'LOC105370567', 'score': 0.31}]
chr14 GH14I074634 74634269 74635499 0.51 [{'connected_gene': 'AREL1', 'score': 6.4}, {'connected_gene': 'LTBP2', 'score': 0.37}, {'connected_gene': 'LOC105370567', 'score': 0.34}]
chr14 GH14I074697 74697145 74700116 0.58 [{'connected_gene': 'AREL1', 'score': 8.61}, {'connected_gene': 'DLST', 'score': 6.3}, {'connected_gene': 'ENSG00000222604', 'score': 0.39}, {'connected_gene': 'GC14M074665', 'score': 0.29}]
chr14 GH14I074601 74601382 74603307 0.52 [{'connected_gene': 'AREL1', 'score': 5.59}, {'connected_gene': 'LOC101928352', 'score': 0.39}, {'connected_gene': 'LTBP2', 'score': 0.37}, {'connected_gene': 'ENSG00000258425', 'score': 0.23}]
chr14 GH14I074603 74603728 74606548 0.66 [{'connected_gene': 'AREL1', 'score': 6.14}, {'connected_gene': 'LOC101928352', 'score': 0.44}, {'connected_gene': 'LTBP2', 'score': 0.39}, {'connected_gene': 'ENSG00000258425', 'score': 0.23}]
chr14 GH14I074591 74591488 74600971 1.39 [{'connected_gene': 'PNMA1', 'score': 16.56}, {'connected_gene': 'ELMSAN1', 'score': 16.36}, {'connected_gene': 'DNAL1', 'score': 15.16}, {'connected_gene': 'LIN52', 'score': 13.7}, {'connected_gene': 'ENSG00000258559', 'score': 12.25}, {'connected_gene': 'ZNF410', 'score': 11.99}, {'connected_gene': 'ABCD4', 'score': 11.68}, {'connected_gene': 'MLH3', 'score': 10.71}, {'connected_gene': 'NEK9', 'score': 10.44}, {'connected_gene': 'AREL1', 'score': 6.83}, {'connected_gene': 'NPC2', 'score': 3.21}, {'connected_gene': 'LTBP2', 'score': 2.67}, {'connected_gene': 'LOC101928352', 'score': 0.37}, {'connected_gene': 'ENSG00000258425', 'score': 0.26}]
chr14 GH14I074647 74647086 74650162 1.15 [{'connected_gene': 'FCF1', 'score': 21.4}, {'connected_gene': 'ELMSAN1', 'score': 21.12}, {'connected_gene': 'NEK9', 'score': 14.32}, {'connected_gene': 'LTBP2', 'score': 11.84}, {'connected_gene': 'ENSG00000258559', 'score': 11.48}, {'connected_gene': 'MLH3', 'score': 11.45}, {'connected_gene': 'ZNF410', 'score': 11.29}, {'connected_gene': 'AREL1', 'score': 11.13}, {'connected_gene': 'ABCD4', 'score': 10.59}, {'connected_gene': 'ENSG00000222604', 'score': 10.38}, {'connected_gene': 'DLST', 'score': 5.88}, {'connected_gene': 'LOC105370567', 'score': 0.44}]
chr14 GH14I074642 74642058 74642207 0.4 [{'connected_gene': 'LTBP2', 'score': 11.82}, {'connected_gene': 'AREL1', 'score': 10.8}, {'connected_gene': 'FCF1', 'score': 10.8}, {'connected_gene': 'ENSG00000222604', 'score': 10.69}, {'connected_gene': 'RPS6KL1', 'score': 5.89}, {'connected_gene': 'LOC105370567', 'score': 0.37}]
chr14 GH14I074610 74610684 74622483 2.71 [{'connected_gene': 'LTBP2', 'score': 552.2}, {'connected_gene': 'ENSG00000258976', 'score': 550.77}, {'connected_gene': 'YLPM1', 'score': 13.51}, {'connected_gene': 'ELMSAN1', 'score': 13.41}, {'connected_gene': 'ZNF410', 'score': 12.31}, {'connected_gene': 'FCF1', 'score': 10.34}, {'connected_gene': 'ENSG00000222604', 'score': 10.06}, {'connected_gene': 'MLH3', 'score': 10.03}, {'connected_gene': 'SYNDIG1L', 'score': 9.64}, {'connected_gene': 'FOS', 'score': 6.63}, {'connected_gene': 'AREL1', 'score': 6.14}, {'connected_gene': 'PGF', 'score': 5.21}, {'connected_gene': 'RPS6KL1', 'score': 5.08}, {'connected_gene': 'ENSG00000259005', 'score': 4.62}, {'connected_gene': 'EIF2B2', 'score': 4.11}, {'connected_gene': 'LOC101928352', 'score': 0.77}]
chr14 GH14I074653 74653275 74657503 0.96 [{'connected_gene': 'LTBP2', 'score': 11.53}, {'connected_gene': 'ENSG00000222604', 'score': 10.79}, {'connected_gene': 'FCF1', 'score': 10.79}, {'connected_gene': 'AREL1', 'score': 9.34}, {'connected_gene': 'DLST', 'score': 5.94}, {'connected_gene': 'LOC105370567', 'score': 0.77}]
chr14 GH14I074684 74684295 74685200 0.79 [{'connected_gene': 'DLST', 'score': 18.68}, {'connected_gene': 'ENSG00000222604', 'score': 12.25}, {'connected_gene': 'FCF1', 'score': 12.25}, {'connected_gene': 'AREL1', 'score': 11.79}, {'connected_gene': 'LTBP2', 'score': 11.68}, {'connected_gene': 'SYNDIG1L', 'score': 9.24}, {'connected_gene': 'GC14M074665', 'score': 0.37}]
chr14 GH14I074658 74658242 74659507 0.57 [{'connected_gene': 'LOC100419503', 'score': 550.77}, {'connected_gene': 'LOC105370567', 'score': 550.77}, {'connected_gene': 'ENSG00000222604', 'score': 10.8}, {'connected_gene': 'FCF1', 'score': 10.8}, {'connected_gene': 'AREL1', 'score': 9.8}, {'connected_gene': 'GC14M074665', 'score': 0.44}]
chr14 GH14I074712 74712000 74714305 2.01 [{'connected_gene': 'ENSG00000222604', 'score': 550.77}, {'connected_gene': 'GC14P074712', 'score': 550.77}, {'connected_gene': 'AREL1', 'score': 550.77}, {'connected_gene': 'FCF1', 'score': 550.77}, {'connected_gene': 'RPS6KL1', 'score': 8.33}, {'connected_gene': 'DLST', 'score': 6.3}, {'connected_gene': 'PIR37391', 'score': 0.34}]
chr14 GH14I074667 74667271 74668507 0.52 [{'connected_gene': 'GC14M074665', 'score': 550.77}, {'connected_gene': 'AREL1', 'score': 12.04}, {'connected_gene': 'FCF1', 'score': 12.04}, {'connected_gene': 'LTBP2', 'score': 11.53}, {'connected_gene': 'ENSG00000222604', 'score': 11.1}, {'connected_gene': 'DLST', 'score': 6.35}]
chr14 GH14I074711 74711758 74711907 0.31 [{'connected_gene': 'ENSG00000222604', 'score': 550.77}, {'connected_gene': 'GC14P074712', 'score': 550.77}, {'connected_gene': 'AREL1', 'score': 550.77}, {'connected_gene': 'FCF1', 'score': 550.77}, {'connected_gene': 'GC14M074665', 'score': 0.26}]
chr14 GH14I074710 74710598 74710747 0.72 [{'connected_gene': 'ENSG00000222604', 'score': 550.77}, {'connected_gene': 'GC14P074712', 'score': 550.77}, {'connected_gene': 'AREL1', 'score': 0.77}, {'connected_gene': 'GC14M074665', 'score': 0.26}]
chr14 GH14I074686 74686358 74686527 0.62 [{'connected_gene': 'ENSG00000222604', 'score': 12.25}, {'connected_gene': 'FCF1', 'score': 12.25}, {'connected_gene': 'AREL1', 'score': 11.79}, {'connected_gene': 'LTBP2', 'score': 11.68}, {'connected_gene': 'SYNDIG1L', 'score': 9.24}, {'connected_gene': 'GC14M074665', 'score': 0.37}]
chr14 GH14I074691 74691558 74691707 0.2 [{'connected_gene': 'ENSG00000222604', 'score': 12.28}, {'connected_gene': 'FCF1', 'score': 12.28}, {'connected_gene': 'AREL1', 'score': 11.82}, {'connected_gene': 'LTBP2', 'score': 11.67}, {'connected_gene': 'SYNDIG1L', 'score': 9.24}, {'connected_gene': 'GC14M074665', 'score': 0.34}]
chr14 GH14I074690 74690638 74690787 0.2 [{'connected_gene': 'ENSG00000222604', 'score': 12.28}, {'connected_gene': 'FCF1', 'score': 12.28}, {'connected_gene': 'AREL1', 'score': 11.82}, {'connected_gene': 'LTBP2', 'score': 11.67}, {'connected_gene': 'SYNDIG1L', 'score': 9.24}, {'connected_gene': 'GC14M074665', 'score': 0.34}]
chr14 GH14I074682 74682658 74682807 0.46 [{'connected_gene': 'ENSG00000222604', 'score': 11.45}, {'connected_gene': 'FCF1', 'score': 11.43}, {'connected_gene': 'GC14M074665', 'score': 0.37}, {'connected_gene': 'AREL1', 'score': 0.29}]
chr14 GH14I074660 74660318 74660467 0.82 [{'connected_gene': 'ENSG00000222604', 'score': 10.8}, {'connected_gene': 'FCF1', 'score': 10.8}, {'connected_gene': 'LOC100419503', 'score': 0.77}, {'connected_gene': 'GC14M074665', 'score': 0.44}, {'connected_gene': 'AREL1', 'score': 0.23}]

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