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
ENST00000367294 [[151773421, 151773721], [151775682, 151775788], [151779462, 151779707], [151785587, 151785753], [151789477, 151791236]] [[151773680, 151773721], [151775682, 151775788], [151779462, 151779707], [151785587, 151785753], [151789477, 151790245]]
ENST00000545879 [[151773605, 151773721], [151779462, 151779707], [151785587, 151785753], [151789477, 151790389]] [[151779672, 151779707], [151785587, 151785753], [151789477, 151790245]]
ENST00000494826 [[151773620, 151773721], [151779462, 151779707], [151785587, 151785753], [151789477, 151789677]] [[151773680, 151773721], [151779462, 151779592]]
ENST00000483931 [[151773658, 151773935], [151775682, 151775788], [151779462, 151779707], [151785587, 151785701]] None
NM_001286562 [[151773392, 151773721], [151779462, 151779707], [151785587, 151785753], [151789477, 151791236]] [[151779672, 151779707], [151785587, 151785753], [151789477, 151790245]]
NM_024573 [[151773392, 151773721], [151775682, 151775788], [151779462, 151779707], [151785587, 151785753], [151789477, 151791236]] [[151773680, 151773721], [151775682, 151775788], [151779462, 151779707], [151785587, 151785753], [151789477, 151790245]]
Promoter
Chrom Start End Description
chr6 151773583 151773677 CAGE_peak_1_at_C6orf211_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I151492 151492912 151495295 2.11 [{'connected_gene': 'CCDC170', 'score': 568.54}, {'connected_gene': 'RMND1', 'score': 23.17}, {'connected_gene': 'HSPA8P15', 'score': 16.1}, {'connected_gene': 'ZBTB2', 'score': 12.96}, {'connected_gene': 'ARMT1', 'score': 11.32}, {'connected_gene': 'ESR1', 'score': 4.4}, {'connected_gene': 'GC06M151579', 'score': 0.17}]
chr6 GH06I151455 151455846 151455995 0.31 [{'connected_gene': 'ARMT1', 'score': 0.77}, {'connected_gene': 'CCDC170', 'score': 0.28}]
chr6 GH06I151485 151485683 151485913 0.27 [{'connected_gene': 'ZBTB2', 'score': 2.1}, {'connected_gene': 'CCDC170', 'score': 0.44}, {'connected_gene': 'ARMT1', 'score': 0.29}]
chr6 GH06I151329 151329498 151331162 0.69 [{'connected_gene': 'ZBTB2', 'score': 10.64}, {'connected_gene': 'ENSG00000232290', 'score': 10.17}, {'connected_gene': 'ARMT1', 'score': 4.71}, {'connected_gene': 'AKAP12', 'score': 4.57}, {'connected_gene': 'RN7SKP268', 'score': 0.39}, {'connected_gene': 'PIR45449', 'score': 0.34}, {'connected_gene': 'GC06P151355', 'score': 0.34}]
chr6 GH06I151475 151475601 151476355 1 [{'connected_gene': 'RMND1', 'score': 13.94}, {'connected_gene': 'CCDC170', 'score': 0.37}, {'connected_gene': 'ARMT1', 'score': 0.34}]
chr6 GH06I151481 151481401 151483399 0.87 [{'connected_gene': 'RMND1', 'score': 10.29}, {'connected_gene': 'CCDC170', 'score': 8.41}, {'connected_gene': 'ZBTB2', 'score': 2.26}, {'connected_gene': 'ARMT1', 'score': 0.29}]
chr6 GH06I151394 151394722 151395575 0.31 [{'connected_gene': 'RMND1', 'score': 20.82}, {'connected_gene': 'ARMT1', 'score': 11.79}, {'connected_gene': 'AKAP12', 'score': 10.54}, {'connected_gene': 'ZBTB2', 'score': 0.77}, {'connected_gene': 'HSPA8P15', 'score': 0.37}]
chr6 GH06I151399 151399356 151400625 0.65 [{'connected_gene': 'RMND1', 'score': 21.76}, {'connected_gene': 'ARMT1', 'score': 11.38}, {'connected_gene': 'AKAP12', 'score': 10.54}, {'connected_gene': 'ZBTB2', 'score': 0.44}, {'connected_gene': 'HSPA8P15', 'score': 0.39}]
chr6 GH06I151487 151487540 151487717 0.22 [{'connected_gene': 'RMND1', 'score': 11.51}, {'connected_gene': 'ARMT1', 'score': 11.51}, {'connected_gene': 'CCDC170', 'score': 0.44}]
chr6 GH06I151501 151501268 151503066 0.84 [{'connected_gene': 'RMND1', 'score': 10.6}, {'connected_gene': 'ARMT1', 'score': 10.6}, {'connected_gene': 'CCDC170', 'score': 9.19}, {'connected_gene': 'GC06M151579', 'score': 0.18}]
chr6 GH06I151505 151505686 151505835 0.31 [{'connected_gene': 'RMND1', 'score': 10.59}, {'connected_gene': 'ARMT1', 'score': 10.59}, {'connected_gene': 'CCDC170', 'score': 0.39}, {'connected_gene': 'GC06M151579', 'score': 0.18}]
chr6 GH06I151425 151425166 151426114 0.38 [{'connected_gene': 'RMND1', 'score': 26.91}, {'connected_gene': 'ARMT1', 'score': 11.8}, {'connected_gene': 'ZBTB2', 'score': 11.49}, {'connected_gene': 'AKAP12', 'score': 9.5}, {'connected_gene': 'HSPA8P15', 'score': 0.39}]
chr6 GH06I151497 151497202 151500400 1.25 [{'connected_gene': 'RMND1', 'score': 23.58}, {'connected_gene': 'ARMT1', 'score': 11.16}, {'connected_gene': 'RNU6-813P', 'score': 10.8}, {'connected_gene': 'CCDC170', 'score': 10.58}, {'connected_gene': 'ZBTB2', 'score': 1.23}, {'connected_gene': 'GC06M151579', 'score': 0.18}]
chr6 GH06I151450 151450801 151453801 2.12 [{'connected_gene': 'RMND1', 'score': 566.61}, {'connected_gene': 'ARMT1', 'score': 550.77}, {'connected_gene': 'HSPA8P15', 'score': 25.76}, {'connected_gene': 'ZBTB2', 'score': 23.69}, {'connected_gene': 'CCDC170', 'score': 0.26}]
chr6 GH06I151806 151806958 151809799 1.42 [{'connected_gene': 'ESR1', 'score': 550.1}, {'connected_gene': 'ARMT1', 'score': 5.77}, {'connected_gene': 'GC06P151812', 'score': 0.77}, {'connected_gene': 'GC06P151669', 'score': 0.11}]
chr6 GH06I151413 151413643 151414495 0.43 [{'connected_gene': 'HSPA8P15', 'score': 562.64}, {'connected_gene': 'RMND1', 'score': 27.03}, {'connected_gene': 'ZBTB2', 'score': 12.34}, {'connected_gene': 'ARMT1', 'score': 11.61}]