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
ENST00000455990 [[60280457, 60280482], [60280707, 60280852], [60287529, 60287615], [60294451, 60294524], [60297834, 60297885], [60299076, 60299209], [60301016, 60301022]] [[60280789, 60280852], [60287529, 60287615], [60294451, 60294524], [60297834, 60297885], [60299076, 60299209], [60301016, 60301022]]
ENST00000371208 [[60280532, 60280852], [60287529, 60287615], [60294451, 60294524], [60297834, 60297885], [60299076, 60299209], [60301016, 60301084], [60302544, 60302607], [60305979, 60306063], [60309103, 60309270], [60312716, 60312857], [60313986, 60314188], [60314744, 60314855], [60324099, 60324187], [60324656, 60324717], [60325859, 60326000], [60328455, 60328549], [60330303, 60330338], [60330834, 60330917], [60331543, 60331644], [60333921, 60334023], [60336713, 60336782], [60338466, 60342050]] [[60280789, 60280852], [60287529, 60287615], [60294451, 60294524], [60297834, 60297885], [60299076, 60299209], [60301016, 60301084], [60302544, 60302607], [60305979, 60306063], [60309103, 60309270], [60312716, 60312857], [60313986, 60314188], [60314744, 60314855], [60324099, 60324187], [60324656, 60324717], [60325859, 60326000], [60328455, 60328549], [60330303, 60330338], [60330834, 60330917], [60331543, 60331644], [60333921, 60334023], [60336713, 60336782], [60338466, 60338637]]
ENST00000465876 [[60280843, 60281023], [60287529, 60287615], [60294451, 60294524], [60297834, 60297885], [60299076, 60299209], [60301016, 60301084], [60302544, 60302607], [60305979, 60306063], [60309103, 60309270], [60312716, 60312857], [60313986, 60314188], [60314744, 60314855], [60324099, 60324187], [60324656, 60324717], [60325859, 60326000], [60328455, 60328549], [60331543, 60331644], [60333921, 60334023], [60336713, 60336782], [60338466, 60338679]] None
ENST00000395561 [[60282303, 60282390], [60287529, 60287615], [60294451, 60294524], [60297834, 60297885], [60299076, 60299209], [60301016, 60301084], [60302544, 60302607], [60305979, 60306063], [60309103, 60309270], [60312716, 60312857], [60313986, 60314188], [60314744, 60314855], [60324099, 60324187], [60324656, 60324717], [60325859, 60326000], [60328455, 60328549], [60330303, 60330338], [60330834, 60330917], [60331543, 60331644], [60333921, 60334023], [60336713, 60336782], [60338466, 60338642]] [[60287592, 60287615], [60294451, 60294524], [60297834, 60297885], [60299076, 60299209], [60301016, 60301084], [60302544, 60302607], [60305979, 60306063], [60309103, 60309270], [60312716, 60312857], [60313986, 60314188], [60314744, 60314855], [60324099, 60324187], [60324656, 60324717], [60325859, 60326000], [60328455, 60328549], [60330303, 60330338], [60330834, 60330917], [60331543, 60331644], [60333921, 60334023], [60336713, 60336782], [60338466, 60338637]]
ENST00000474695 [[60325954, 60326000], [60328455, 60328549], [60329496, 60329540]] None
ENST00000466803 [[60330310, 60330917], [60331543, 60331644], [60333921, 60334023], [60336713, 60336782], [60338466, 60338650]] None
ENST00000491135 [[60336548, 60336782], [60338466, 60338654]] None
NM_015888 [[60280532, 60280852], [60287529, 60287615], [60294451, 60294524], [60297834, 60297885], [60299076, 60299209], [60301016, 60301084], [60302544, 60302607], [60305979, 60306063], [60309103, 60309270], [60312716, 60312857], [60313986, 60314188], [60314744, 60314855], [60324099, 60324187], [60324656, 60324717], [60325859, 60326000], [60328455, 60328549], [60330303, 60330338], [60330834, 60330917], [60331543, 60331644], [60333921, 60334023], [60336713, 60336782], [60338466, 60342050]] [[60280789, 60280852], [60287529, 60287615], [60294451, 60294524], [60297834, 60297885], [60299076, 60299209], [60301016, 60301084], [60302544, 60302607], [60305979, 60306063], [60309103, 60309270], [60312716, 60312857], [60313986, 60314188], [60314744, 60314855], [60324099, 60324187], [60324656, 60324717], [60325859, 60326000], [60328455, 60328549], [60330303, 60330338], [60330834, 60330917], [60331543, 60331644], [60333921, 60334023], [60336713, 60336782], [60338466, 60338637]]
Promoter
Chrom Start End Description
chr1 60280532 60280546 CAGE_peak_6_at_HOOK1_5end
chr1 60280571 60280590 CAGE_peak_3_at_HOOK1_5end
chr1 60280611 60280663 CAGE_peak_1_at_HOOK1_5end
chr1 60280668 60280699 CAGE_peak_2_at_HOOK1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I059906 59906767 59907951 0.38 [{'connected_gene': 'HOOK1', 'score': 14.45}, {'connected_gene': 'GC01P059903', 'score': 0.77}, {'connected_gene': 'CYP2J2', 'score': 0.37}]
chr1 GH01I059814 59814207 59815961 2.01 [{'connected_gene': 'HOOK1', 'score': 558.38}, {'connected_gene': 'LOC105378758', 'score': 550.77}]
chr1 GH01I059832 59832871 59834837 0.2 [{'connected_gene': 'HOOK1', 'score': 7.38}, {'connected_gene': 'GC01P059852', 'score': 0.37}, {'connected_gene': 'LOC105378758', 'score': 0.37}]
chr1 GH01I059777 59777349 59777800 0.51 [{'connected_gene': 'HOOK1', 'score': 5.3}, {'connected_gene': 'LOC101926944', 'score': 0.77}, {'connected_gene': 'ENSG00000226883', 'score': 0.39}, {'connected_gene': 'FGGY', 'score': 0.04}]
chr1 GH01I059768 59768836 59769551 0.52 [{'connected_gene': 'HOOK1', 'score': 5.48}, {'connected_gene': 'LOC101926944', 'score': 0.77}, {'connected_gene': 'ENSG00000226883', 'score': 0.37}, {'connected_gene': 'MIR4711', 'score': 0.28}, {'connected_gene': 'FGGY', 'score': 0.04}]
chr1 GH01I059761 59761174 59762065 0.2 [{'connected_gene': 'HOOK1', 'score': 10.68}, {'connected_gene': 'LOC101926944', 'score': 0.39}, {'connected_gene': 'MIR4711', 'score': 0.31}, {'connected_gene': 'ENSG00000226883', 'score': 0.31}, {'connected_gene': 'FGGY', 'score': 0.04}]
chr1 GH01I059758 59758883 59760178 1.05 [{'connected_gene': 'HOOK1', 'score': 10.67}, {'connected_gene': 'LOC101926944', 'score': 0.39}, {'connected_gene': 'MIR4711', 'score': 0.31}, {'connected_gene': 'ENSG00000226883', 'score': 0.31}, {'connected_gene': 'FGGY', 'score': 0.04}]
chr1 GH01I059750 59750249 59751398 1.05 [{'connected_gene': 'HOOK1', 'score': 9.87}, {'connected_gene': 'MIR4711', 'score': 0.37}, {'connected_gene': 'LOC101926944', 'score': 0.34}, {'connected_gene': 'FGGY', 'score': 0.05}]
chr1 GH01I059752 59752601 59752801 0.43 [{'connected_gene': 'HOOK1', 'score': 9.87}, {'connected_gene': 'MIR4711', 'score': 0.37}, {'connected_gene': 'LOC101926944', 'score': 0.34}, {'connected_gene': 'FGGY', 'score': 0.05}]
chr1 GH01I059856 59856094 59858312 0.87 [{'connected_gene': 'HOOK1', 'score': 17.66}, {'connected_gene': 'GC01P059852', 'score': 0.77}, {'connected_gene': 'GC01M059897', 'score': 0.26}]
chr1 GH01I059879 59879669 59880836 0.63 [{'connected_gene': 'HOOK1', 'score': 15.27}, {'connected_gene': 'GC01M059897', 'score': 0.37}, {'connected_gene': 'GC01P059852', 'score': 0.31}]
chr1 GH01I059966 59966786 59967838 0.99 [{'connected_gene': 'C1orf87', 'score': 10.18}, {'connected_gene': 'CYP2J2', 'score': 5.27}, {'connected_gene': 'HOOK1', 'score': 4.53}, {'connected_gene': 'RN7SL475P', 'score': 0.44}, {'connected_gene': 'GC01M059975', 'score': 0.44}]
chr1 GH01I059816 59816001 59816200 0.54 [{'connected_gene': 'LOC105378758', 'score': 550.77}, {'connected_gene': 'HOOK1', 'score': 550.77}, {'connected_gene': 'GC01P059852', 'score': 0.28}]