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
ENST00000473240 [[163175349, 163175693], [163175791, 163175905], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213344]] None
ENST00000446271 [[163175393, 163175749], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213323]] [[163175644, 163175749], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213323]]
ENST00000429691 [[163175543, 163175735], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163217255, 163217608]] [[163204117, 163204252], [163208847, 163208917], [163212947, 163212991], [163217255, 163217270]]
ENST00000437150 [[163200597, 163200785], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163217930]] [[163200758, 163200785], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163216753]]
ENST00000481161 [[163200643, 163200785], [163204087, 163204252], [163208847, 163208917], [163212947, 163213175]] None
ENST00000453113 [[163200644, 163200785], [163203091, 163203175], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415]] [[163204117, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415]]
ENST00000487445 [[163200668, 163200785], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163216062], [163216726, 163217481]] None
ENST00000479199 [[163200691, 163200785], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213491]] None
ENST00000233612 [[163200847, 163201035], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163217632]] [[163204117, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163216753]]
ENST00000414723 [[163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163227815, 163228105]] [[163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163227815, 163227890]]
NM_001330265 [[163175272, 163175693], [163175791, 163175905], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163219618]] [[163175833, 163175905], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163216753]]
NM_001330266 [[163175272, 163175735], [163175810, 163175905], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163219618]] [[163175833, 163175905], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163216753]]
NM_001330268 [[163175272, 163175749], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163219618]] [[163175644, 163175749], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163216753]]
NM_001330267 [[163175491, 163175609], [163175791, 163175905], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163219618]] [[163175833, 163175905], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163216753]]
NM_012198 [[163200582, 163200785], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163219618]] [[163200758, 163200785], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163216753]]
NM_001330271 [[163200890, 163201035], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163219618]] [[163204117, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163216753]]
NM_001330270 [[163200890, 163201106], [163204087, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163219618]] [[163204117, 163204252], [163208847, 163208917], [163212947, 163212991], [163213267, 163213415], [163215553, 163215667], [163216003, 163216062], [163216726, 163216753]]
Promoter
Chrom Start End Description
chr2 163175533 163175583 CAGE_peak_4_at_GCA_5end
chr2 163175584 163175606 CAGE_peak_5_at_GCA_5end
chr2 163175609 163175631 CAGE_peak_6_at_GCA_5end
chr2 163200618 163200667 CAGE_peak_1_at_GCA_5end
chr2 163200696 163200710 CAGE_peak_2_at_GCA_5end
chr2 163200864 163200919 CAGE_peak_3_at_GCA_5end
chr2 163200920 163200931 CAGE_peak_11_at_GCA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I162316 162316600 162320840 2.17 [{'connected_gene': 'IFIH1', 'score': 550.77}, {'connected_gene': 'GCA', 'score': 550.77}, {'connected_gene': 'FAP', 'score': 4.91}, {'connected_gene': 'GC02M162307', 'score': 0.39}]
chr2 GH02I162366 162366451 162366567 0.22 [{'connected_gene': 'GCA', 'score': 4.6}, {'connected_gene': 'KCNH7', 'score': 1.52}, {'connected_gene': 'GC02P162329', 'score': 0.28}, {'connected_gene': 'RNA5SP109', 'score': 0.12}]
chr2 GH02I162343 162343342 162345601 1.98 [{'connected_gene': 'GCA', 'score': 562.59}, {'connected_gene': 'IFIH1', 'score': 12.59}, {'connected_gene': 'FAP', 'score': 4.98}, {'connected_gene': 'GC02P162329', 'score': 0.37}, {'connected_gene': 'RNA5SP109', 'score': 0.1}]
chr2 GH02I162478 162478971 162479128 0.33 [{'connected_gene': 'GCA', 'score': 5.85}, {'connected_gene': 'RNA5SP109', 'score': 0.37}, {'connected_gene': 'GC02P162329', 'score': 0.11}, {'connected_gene': 'KCNH7', 'score': 0.05}]
chr2 GH02I162367 162366148 162366172 0.22 [{'connected_gene': 'GCA', 'score': 5.12}, {'connected_gene': 'GC02P162329', 'score': 0.28}, {'connected_gene': 'RNA5SP109', 'score': 0.12}]
chr2 GH02I162321 162321401 162321600 0.51 [{'connected_gene': 'FAP', 'score': 4.38}, {'connected_gene': 'PIR31305', 'score': 0.77}, {'connected_gene': 'GCA', 'score': 0.77}]
chr2 GH02I162347 162347201 162347400 0.2 [{'connected_gene': 'GC02P162329', 'score': 0.37}, {'connected_gene': 'GCA', 'score': 0.31}, {'connected_gene': 'RNA5SP109', 'score': 0.11}]