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
ENST00000557222 [[97319224, 97319276], [97319410, 97319503], [97321560, 97321693], [97322466, 97322587], [97322864, 97322923], [97326893, 97327072], [97397667, 97398059]] [[97319224, 97319276], [97319410, 97319503], [97321560, 97321693], [97322466, 97322587], [97322864, 97322923], [97326893, 97327072], [97397667, 97397727]]
ENST00000216639 [[97263640, 97263784], [97299803, 97299968], [97304098, 97304154], [97312431, 97312501], [97313593, 97313681], [97319167, 97319276], [97319410, 97319503], [97321560, 97321693], [97322466, 97322587], [97322864, 97322923], [97326893, 97327072], [97342366, 97342457], [97347513, 97347950]] [[97299808, 97299968], [97304098, 97304154], [97312431, 97312501], [97313593, 97313681], [97319167, 97319276], [97319410, 97319503], [97321560, 97321693], [97322466, 97322587], [97322864, 97322923], [97326893, 97327072], [97342366, 97342457], [97347513, 97347545]]
ENST00000555351 [[97263721, 97263784], [97299803, 97299968], [97304098, 97304154], [97312431, 97312501], [97313593, 97313681], [97319167, 97319392]] None
ENST00000557352 [[97321640, 97321693], [97322466, 97322587], [97322864, 97322923], [97326893, 97327259]] [[97321640, 97321693], [97322466, 97322587], [97322864, 97322923], [97326893, 97327189]]
ENST00000555067 [[97325245, 97325364], [97326893, 97327072], [97342366, 97342457], [97347513, 97347728]] None
ENST00000553683 [[97342365, 97342457], [97343838, 97343910], [97347513, 97347596]] [[97342365, 97342457], [97343838, 97343910], [97347513, 97347545]]
ENST00000555402 [[97343726, 97343910], [97347513, 97347744]] None
NM_003384 [[97263683, 97263784], [97299803, 97299968], [97304098, 97304154], [97312431, 97312501], [97313593, 97313681], [97319167, 97319276], [97319410, 97319503], [97321560, 97321693], [97322466, 97322587], [97322864, 97322923], [97326893, 97327072], [97342366, 97342457], [97347513, 97347951]] [[97299808, 97299968], [97304098, 97304154], [97312431, 97312501], [97313593, 97313681], [97319167, 97319276], [97319410, 97319503], [97321560, 97321693], [97322466, 97322587], [97322864, 97322923], [97326893, 97327072], [97342366, 97342457], [97347513, 97347545]]
Promoter
Chrom Start End Description
chr14 97263676 97263764 CAGE_peak_1_at_VRK1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I096889 96889317 96889618 0.66 [{'connected_gene': 'VRK1', 'score': 11.19}, {'connected_gene': 'GC14P096860', 'score': 0.31}, {'connected_gene': 'LINC00618', 'score': 0.26}]
chr14 GH14I096796 96796724 96798807 2.01 [{'connected_gene': 'VRK1', 'score': 558.36}, {'connected_gene': 'PAPOLA', 'score': 13.8}, {'connected_gene': 'ATG2B', 'score': 10.13}, {'connected_gene': 'GC14P096860', 'score': 0.21}]
chr14 GH14I096782 96782768 96784535 0.58 [{'connected_gene': 'VRK1', 'score': 0.39}, {'connected_gene': 'LINC02299', 'score': 0.26}]
chr14 GH14I097500 97500224 97500373 0.64 [{'connected_gene': 'VRK1', 'score': 4.91}, {'connected_gene': 'GC14M097529', 'score': 0.31}, {'connected_gene': 'LINC02325', 'score': 0.26}]
chr14 GH14I096986 96986319 96986536 0.4 [{'connected_gene': 'VRK1', 'score': 6.07}, {'connected_gene': 'ENSG00000280070', 'score': 0.44}, {'connected_gene': 'GC14M096938', 'score': 0.39}]
chr14 GH14I096824 96824192 96825033 0.38 [{'connected_gene': 'VRK1', 'score': 8.67}, {'connected_gene': 'GC14P096860', 'score': 0.28}]
chr14 GH14I096849 96849416 96850017 0.2 [{'connected_gene': 'VRK1', 'score': 22.16}, {'connected_gene': 'GC14P096860', 'score': 0.39}]
chr14 GH14I096815 96815885 96816026 0.22 [{'connected_gene': 'VRK1', 'score': 0.37}, {'connected_gene': 'GC14P096860', 'score': 0.26}]
chr14 GH14I096799 96799601 96799800 0.46 [{'connected_gene': 'VRK1', 'score': 0.77}, {'connected_gene': 'GC14P096860', 'score': 0.21}]
chr14 GH14I096806 96806863 96807216 1.02 [{'connected_gene': 'VRK1', 'score': 0.44}, {'connected_gene': 'GC14P096860', 'score': 0.23}]
chr14 GH14I096821 96821185 96822091 0.31 [{'connected_gene': 'VRK1', 'score': 18.86}, {'connected_gene': 'GC14P096860', 'score': 0.28}]
chr14 GH14I096888 96888589 96888866 1.09 [{'connected_gene': 'PAPOLA', 'score': 16.26}, {'connected_gene': 'ATG2B', 'score': 9.83}, {'connected_gene': 'GC14P096860', 'score': 0.31}, {'connected_gene': 'LINC00618', 'score': 0.26}, {'connected_gene': 'VRK1', 'score': 0.16}]
chr14 GH14I096741 96741400 96741801 1.08 [{'connected_gene': 'LINC02299', 'score': 550.77}, {'connected_gene': 'VRK1', 'score': 0.22}]
chr14 GH14I096762 96762601 96763079 0.99 [{'connected_gene': 'LINC02299', 'score': 0.34}, {'connected_gene': 'VRK1', 'score': 0.29}]
chr14 GH14I096755 96755161 96755490 0.57 [{'connected_gene': 'LINC02299', 'score': 0.39}, {'connected_gene': 'VRK1', 'score': 0.26}]
chr14 GH14I096756 96755564 96755713 0.2 [{'connected_gene': 'LINC02299', 'score': 0.39}, {'connected_gene': 'VRK1', 'score': 0.26}]
chr14 GH14I096754 96754924 96755073 0.59 [{'connected_gene': 'LINC02299', 'score': 0.39}, {'connected_gene': 'VRK1', 'score': 0.26}]
chr14 GH14I096863 96863364 96863987 0.38 [{'connected_gene': 'GC14P096860', 'score': 0.77}, {'connected_gene': 'VRK1', 'score': 0.2}, {'connected_gene': 'LINC00618', 'score': 0.2}]
chr14 GH14I096961 96961954 96964719 0.72 [{'connected_gene': 'GC14P096964', 'score': 550.77}, {'connected_gene': 'GC14P096965', 'score': 550.77}, {'connected_gene': 'VRK1', 'score': 8.15}, {'connected_gene': 'GC14M096938', 'score': 0.44}, {'connected_gene': 'LINC00618', 'score': 0.29}]
chr14 GH14I096861 96861831 96862736 0.38 [{'connected_gene': 'GC14P096860', 'score': 550.77}, {'connected_gene': 'VRK1', 'score': 0.21}, {'connected_gene': 'LINC00618', 'score': 0.2}]
chr14 GH14I096964 96964826 96965429 0.4 [{'connected_gene': 'GC14P096964', 'score': 550.77}, {'connected_gene': 'GC14P096965', 'score': 550.77}, {'connected_gene': 'VRK1', 'score': 5.66}, {'connected_gene': 'GC14M096938', 'score': 0.44}]
chr14 GH14I096874 96874203 96874499 0.4 [{'connected_gene': 'GC14P096860', 'score': 0.39}, {'connected_gene': 'LINC00618', 'score': 0.22}, {'connected_gene': 'VRK1', 'score': 0.18}]