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
ENST00000550433 [[75433856, 75434986], [75441932, 75442097], [75444169, 75445097], [75601076, 75601784]] [[75434876, 75434986], [75441932, 75442097], [75444169, 75445097], [75601076, 75601763]]
ENST00000548513 [[75433856, 75434986], [75436059, 75436154], [75441932, 75442097], [75444169, 75445097], [75601076, 75601784]] [[75436092, 75436154], [75441932, 75442097], [75444169, 75445097], [75601076, 75601763]]
ENST00000549446 [[75433857, 75437021], [75441932, 75442097], [75444169, 75445097], [75601076, 75601782], [75602986, 75603648]] [[75436884, 75437021], [75441932, 75442097], [75444169, 75445097], [75601076, 75601763]]
ENST00000298972 [[75433895, 75434986], [75436059, 75436154], [75441932, 75442097], [75444169, 75445097], [75601076, 75601782], [75602986, 75603511]] [[75436092, 75436154], [75441932, 75442097], [75444169, 75445097], [75601076, 75601763]]
ENST00000341669 [[75433895, 75434986], [75441932, 75442097], [75444169, 75445097], [75601076, 75601782], [75602986, 75603511]] [[75434876, 75434986], [75441932, 75442097], [75444169, 75445097], [75601076, 75601763]]
ENST00000350228 [[75433896, 75434986], [75436059, 75436154], [75444169, 75445097], [75601076, 75601782], [75602986, 75603511]] [[75436092, 75436154], [75444169, 75445097], [75601076, 75601763]]
ENST00000540018 [[75436740, 75437021], [75444169, 75445097], [75601076, 75601782], [75602986, 75603239]] [[75436884, 75437021], [75444169, 75445097], [75601076, 75601763]]
ENST00000393288 [[75437136, 75437593], [75441932, 75442097], [75444169, 75445097], [75601076, 75601782], [75602986, 75603215]] [[75437516, 75437593], [75441932, 75442097], [75444169, 75445097], [75601076, 75601763]]
ENST00000546456 [[75444846, 75445097], [75517789, 75517892], [75518585, 75518718], [75533929, 75533976]] None
ENST00000548243 [[75442008, 75442042], [75444169, 75444707]] None
NM_001260497 [[75433857, 75437593], [75441932, 75442097], [75444169, 75445097], [75601076, 75601782], [75602986, 75603528]] [[75437516, 75437593], [75441932, 75442097], [75444169, 75445097], [75601076, 75601763]]
NM_139137 [[75433857, 75437021], [75441932, 75442097], [75444169, 75445097], [75601076, 75601782], [75602986, 75603528]] [[75436884, 75437021], [75441932, 75442097], [75444169, 75445097], [75601076, 75601763]]
NM_139136 [[75433857, 75434986], [75436059, 75436154], [75441932, 75442097], [75444169, 75445097], [75601076, 75601782], [75602986, 75603528]] [[75436092, 75436154], [75441932, 75442097], [75444169, 75445097], [75601076, 75601763]]
NM_001260498 [[75433857, 75434986], [75441932, 75442097], [75444169, 75445097], [75601076, 75601782], [75602986, 75603528]] [[75434876, 75434986], [75441932, 75442097], [75444169, 75445097], [75601076, 75601763]]
NM_001260499 [[75433857, 75437021], [75444169, 75445097], [75601076, 75601782], [75602986, 75603528]] [[75436884, 75437021], [75444169, 75445097], [75601076, 75601763]]
NM_153748 [[75433857, 75434986], [75436059, 75436154], [75444169, 75445097], [75601076, 75601782], [75602986, 75603528]] [[75436092, 75436154], [75444169, 75445097], [75601076, 75601763]]
Promoter
Chrom Start End Description
chr12 75601501 75601517 CAGE_peak_11_at_KCNC2_5end
chr12 75601778 75601789 CAGE_peak_7_at_KCNC2_5end
chr12 75603154 75603174 CAGE_peak_6_at_KCNC2_5end
chr12 75603202 75603233 CAGE_peak_2_at_KCNC2_5end
chr12 75603236 75603283 CAGE_peak_3_at_KCNC2_5end
chr12 75603416 75603425 CAGE_peak_14_at_KCNC2_5end
chr12 75603482 75603534 CAGE_peak_1_at_KCNC2_5end
chr12 75603536 75603547 CAGE_peak_9_at_KCNC2_5end
chr12 75603594 75603611 CAGE_peak_5_at_KCNC2_5end
chr12 75603612 75603628 CAGE_peak_4_at_KCNC2_5end
chr12 75603643 75603652 CAGE_peak_19_at_KCNC2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I074963 74963412 74964330 0.73 [{'connected_gene': 'KCNC2', 'score': 5.63}, {'connected_gene': 'ENSG00000257434', 'score': 0.22}, {'connected_gene': 'LOC105369842', 'score': 0.13}]
chr12 GH12I074945 74945861 74946090 0.57 [{'connected_gene': 'KCNC2', 'score': 6.43}, {'connected_gene': 'ENSG00000257434', 'score': 0.19}, {'connected_gene': 'LOC105369842', 'score': 0.15}]
chr12 GH12I074889 74889164 74890910 0.95 [{'connected_gene': 'KCNC2', 'score': 5.62}, {'connected_gene': 'LOC105369842', 'score': 0.26}, {'connected_gene': 'ENSG00000257434', 'score': 0.12}]
chr12 GH12I075130 75130941 75131150 0.67 [{'connected_gene': 'KCNC2', 'score': 10.12}, {'connected_gene': 'GC12M075050', 'score': 0.18}]
chr12 GH12I075209 75209738 75209797 0.76 [{'connected_gene': 'KCNC2', 'score': 550.77}, {'connected_gene': 'GC12M075050', 'score': 0.1}]
chr12 GH12I075210 75209427 75209486 0.68 [{'connected_gene': 'KCNC2', 'score': 550.77}, {'connected_gene': 'GC12M075050', 'score': 0.1}]
chr12 GH12I075207 75207994 75208053 0.61 [{'connected_gene': 'KCNC2', 'score': 550.77}, {'connected_gene': 'GC12M075050', 'score': 0.1}]
chr12 GH12I075177 75177316 75178750 1.12 [{'connected_gene': 'KCNC2', 'score': 11.81}, {'connected_gene': 'GC12M075050', 'score': 0.13}]
chr12 GH12I075270 75270241 75270390 0.2 [{'connected_gene': 'GLIPR1L2', 'score': 23.42}, {'connected_gene': 'KCNC2', 'score': 11.04}, {'connected_gene': 'CCNG2P1', 'score': 0.39}, {'connected_gene': 'LOC100130268', 'score': 0.28}, {'connected_gene': 'LOC100419702', 'score': 0.28}, {'connected_gene': 'CAPS2', 'score': 0.13}]
chr12 GH12I075505 75505619 75506510 0.74 [{'connected_gene': 'GLIPR1L2', 'score': 63.56}, {'connected_gene': 'GLIPR1L1', 'score': 11.89}, {'connected_gene': 'GLIPR1', 'score': 11.23}, {'connected_gene': 'CAPS2', 'score': 10.96}, {'connected_gene': 'PHLDA1', 'score': 10.28}, {'connected_gene': 'KCNC2', 'score': 8.78}, {'connected_gene': 'KRR1', 'score': 0.44}, {'connected_gene': 'ENSG00000257497', 'score': 0.37}]
chr12 GH12I075507 75507127 75507635 0.66 [{'connected_gene': 'KRR1', 'score': 37.88}, {'connected_gene': 'GLIPR1L1', 'score': 11.89}, {'connected_gene': 'GLIPR1', 'score': 11.23}, {'connected_gene': 'CAPS2', 'score': 10.96}, {'connected_gene': 'GLIPR1L2', 'score': 10.96}, {'connected_gene': 'PHLDA1', 'score': 10.28}, {'connected_gene': 'KCNC2', 'score': 8.78}, {'connected_gene': 'ENSG00000257497', 'score': 0.37}]
chr12 GH12I075508 75508283 75513161 2.54 [{'connected_gene': 'KRR1', 'score': 622.93}, {'connected_gene': 'ENSG00000257497', 'score': 23.36}, {'connected_gene': 'GLIPR1L2', 'score': 16.04}, {'connected_gene': 'GLIPR1L1', 'score': 11.89}, {'connected_gene': 'GLIPR1', 'score': 11.21}, {'connected_gene': 'CAPS2', 'score': 10.96}, {'connected_gene': 'PHLDA1', 'score': 10.28}, {'connected_gene': 'KCNC2', 'score': 8.78}]