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
ENST00000262345 [[67773046, 67773650], [67786015, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67838118, 67838217], [67838307, 67838466], [67845668, 67845806], [67852261, 67852352], [67855711, 67855811], [67861229, 67862583]] [[67786051, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67838118, 67838217], [67838307, 67838466], [67845668, 67845806], [67852261, 67852352], [67855711, 67855811], [67861229, 67861772]]
ENST00000371000 [[67773046, 67773650], [67786015, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67838118, 67838217], [67838307, 67838466], [67845668, 67845806], [67852261, 67852352], [67861229, 67862583]] [[67786051, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67838118, 67838217], [67838307, 67838466], [67845668, 67845806], [67852261, 67852352], [67861229, 67861263]]
ENST00000541374 [[67773555, 67773650], [67779595, 67779683], [67786015, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67838118, 67838217], [67838307, 67838466], [67845668, 67845806], [67852261, 67852352], [67861229, 67861518]] [[67786051, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67838118, 67838217], [67838307, 67838466], [67845668, 67845806], [67852261, 67852352], [67861229, 67861263]]
ENST00000544434 [[67773636, 67773650], [67786015, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67845668, 67845806], [67852261, 67852352], [67855711, 67855811], [67861229, 67861830]] [[67786051, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67845668, 67845806], [67852261, 67852352], [67855711, 67855811], [67861229, 67861772]]
ENST00000441640 [[67792451, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804433]] [[67792451, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804433]]
ENST00000465396 [[67845610, 67845806], [67852261, 67852352], [67855711, 67855811], [67861229, 67861446]] None
NM_001258215 [[67773046, 67773650], [67786015, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67845668, 67845806], [67852261, 67852352], [67855711, 67855811], [67861229, 67862583]] [[67786051, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67845668, 67845806], [67852261, 67852352], [67855711, 67855811], [67861229, 67861772]]
NR_047583 [[67773046, 67773650], [67786015, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67838118, 67838217], [67845668, 67845806], [67855711, 67855811], [67861229, 67862583]] None
NM_001258216 [[67773046, 67773650], [67786015, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67838118, 67838217], [67838307, 67838466], [67845668, 67845806], [67861229, 67862583]] [[67786051, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67838118, 67838217], [67838307, 67838466], [67845668, 67845806], [67861229, 67861282]]
NM_001559 [[67773046, 67773650], [67786015, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67838118, 67838217], [67838307, 67838466], [67845668, 67845806], [67852261, 67852352], [67855711, 67855811], [67861229, 67862583]] [[67786051, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67838118, 67838217], [67838307, 67838466], [67845668, 67845806], [67852261, 67852352], [67855711, 67855811], [67861229, 67861772]]
NR_047584 [[67773046, 67773650], [67786015, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67838118, 67838217], [67838307, 67838466], [67845668, 67845806], [67852261, 67852352], [67852797, 67852890], [67855711, 67855811], [67861229, 67862583]] None
NM_001319233 [[67773046, 67773650], [67779595, 67779683], [67786019, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67838118, 67838217], [67838307, 67838466], [67845668, 67845806], [67852261, 67852352], [67861229, 67862583]] [[67786051, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67838118, 67838217], [67838307, 67838466], [67845668, 67845806], [67852261, 67852352], [67861229, 67861263]]
NM_001258214 [[67773046, 67773650], [67779595, 67779683], [67786015, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67838118, 67838217], [67838307, 67838466], [67845668, 67845806], [67852261, 67852352], [67861229, 67862583]] [[67786051, 67786127], [67787284, 67787572], [67792417, 67792532], [67793882, 67794067], [67795269, 67795412], [67796342, 67796493], [67804306, 67804386], [67816552, 67816772], [67833507, 67833708], [67838118, 67838217], [67838307, 67838466], [67845668, 67845806], [67852261, 67852352], [67861229, 67861263]]
Promoter
Chrom Start End Description
chr1 67773032 67773039 CAGE_peak_5_at_IL12RB2_5end
chr1 67773044 67773057 CAGE_peak_3_at_IL12RB2_5end
chr1 67773527 67773577 CAGE_peak_1_at_IL12RB2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I068172 68172634 68180246 1.5 [{'connected_gene': 'WLS', 'score': 9.2}, {'connected_gene': 'RPE65', 'score': 8.96}, {'connected_gene': 'IL12RB2', 'score': 5.17}, {'connected_gene': 'MIR1262', 'score': 0.44}, {'connected_gene': 'CTBP2P8', 'score': 0.39}, {'connected_gene': 'GNG12-AS1', 'score': 0.05}]
chr1 GH01I067338 67338278 67339106 0.72 [{'connected_gene': 'IL12RB2', 'score': 11.65}, {'connected_gene': 'SERBP1', 'score': 10.85}, {'connected_gene': 'RNU6-387P', 'score': 10.74}, {'connected_gene': 'RNU4ATAC4P', 'score': 10.35}, {'connected_gene': 'LOC105378779', 'score': 0.21}]
chr1 GH01I067339 67339451 67341220 0.95 [{'connected_gene': 'IL12RB2', 'score': 18.17}, {'connected_gene': 'SERBP1', 'score': 11.19}, {'connected_gene': 'RNU6-387P', 'score': 10.25}, {'connected_gene': 'LOC105378779', 'score': 0.22}]
chr1 GH01I067306 67306863 67308623 1.6 [{'connected_gene': 'IL12RB2', 'score': 555.69}, {'connected_gene': 'SERBP1', 'score': 5.15}, {'connected_gene': 'LOC105378779', 'score': 0.16}]
chr1 GH01I067617 67617515 67620099 1.19 [{'connected_gene': 'IL12RB2', 'score': 5.53}, {'connected_gene': 'RN7SL392P', 'score': 0.28}, {'connected_gene': 'LOC105378780', 'score': 0.22}]
chr1 GH01I067332 67332215 67334145 0.8 [{'connected_gene': 'IL12RB2', 'score': 23.88}, {'connected_gene': 'RNU4ATAC4P', 'score': 10.92}, {'connected_gene': 'LOC105378779', 'score': 0.2}]
chr1 GH01I067407 67407160 67408247 0.49 [{'connected_gene': 'IL12RB2', 'score': 5.95}, {'connected_gene': 'GC01P067418', 'score': 0.44}, {'connected_gene': 'LOC105378779', 'score': 0.44}, {'connected_gene': 'SERBP1', 'score': 0.34}]
chr1 GH01I067347 67347500 67348882 0.85 [{'connected_gene': 'IL12RB2', 'score': 17.32}, {'connected_gene': 'LOC105378779', 'score': 0.23}]
chr1 GH01I067274 67274658 67274807 0.65 [{'connected_gene': 'IL12RB2', 'score': 11.7}, {'connected_gene': 'LOC100130497', 'score': 0.77}, {'connected_gene': 'GC01M067268', 'score': 0.44}]
chr1 GH01I067336 67336483 67337487 0.31 [{'connected_gene': 'SERBP1', 'score': 10.82}, {'connected_gene': 'IL12RB2', 'score': 10.65}, {'connected_gene': 'RNU4ATAC4P', 'score': 10.36}, {'connected_gene': 'LOC105378779', 'score': 0.21}]
chr1 GH01I067355 67355277 67357014 0.77 [{'connected_gene': 'SERBP1', 'score': 7.14}, {'connected_gene': 'IL12RB2', 'score': 7.11}, {'connected_gene': 'LOC105378779', 'score': 0.26}]
chr1 GH01I067392 67392935 67393809 0.59 [{'connected_gene': 'SERBP1', 'score': 12.38}, {'connected_gene': 'RNU6-387P', 'score': 12.15}, {'connected_gene': 'LOC105378779', 'score': 0.44}, {'connected_gene': 'IL12RB2', 'score': 0.17}]
chr1 GH01I067382 67382090 67382335 0.23 [{'connected_gene': 'SERBP1', 'score': 11.75}, {'connected_gene': 'LOC105378779', 'score': 0.37}, {'connected_gene': 'IL12RB2', 'score': 0.19}]
chr1 GH01I067500 67500397 67501000 1.13 [{'connected_gene': 'RNU6-387P', 'score': 11.27}, {'connected_gene': 'IL12RB2', 'score': 10.78}, {'connected_gene': 'RNU4ATAC4P', 'score': 10.69}, {'connected_gene': 'GC01P067513', 'score': 0.39}, {'connected_gene': 'PIR38616', 'score': 0.29}]
chr1 GH01I067341 67341669 67342657 0.75 [{'connected_gene': 'RNU6-387P', 'score': 10.71}, {'connected_gene': 'IL12RB2', 'score': 7.08}, {'connected_gene': 'LOC105378779', 'score': 0.22}]
chr1 GH01I067194 67194148 67195646 0.97 [{'connected_gene': 'RNU6-586P', 'score': 550.77}, {'connected_gene': 'C1orf141', 'score': 6.18}, {'connected_gene': 'IL23R', 'score': 5.89}, {'connected_gene': 'SLC35D1', 'score': 3.12}, {'connected_gene': 'WDR78', 'score': 2.66}, {'connected_gene': 'IL12RB2', 'score': 2.32}, {'connected_gene': 'MIER1', 'score': 2.0}, {'connected_gene': 'INSL5', 'score': 1.31}, {'connected_gene': 'GC01M067171', 'score': 0.34}]
chr1 GH01I067337 67336319 67336433 0.22 [{'connected_gene': 'RNU4ATAC4P', 'score': 10.36}, {'connected_gene': 'SERBP1', 'score': 10.33}, {'connected_gene': 'IL12RB2', 'score': 3.2}, {'connected_gene': 'MIER1', 'score': 2.67}, {'connected_gene': 'SLC35D1', 'score': 2.0}, {'connected_gene': 'IL23R', 'score': 1.39}, {'connected_gene': 'LOC105378779', 'score': 0.21}]
chr1 GH01I067314 67314058 67314207 0.31 [{'connected_gene': 'RNU4ATAC4P', 'score': 11.2}, {'connected_gene': 'RNU6-387P', 'score': 10.29}, {'connected_gene': 'IL12RB2', 'score': 7.71}, {'connected_gene': 'LOC105378779', 'score': 0.17}]
chr1 GH01I067400 67399278 67399427 0.2 [{'connected_gene': 'LOC105378779', 'score': 550.77}, {'connected_gene': 'IL12RB2', 'score': 0.16}]
chr1 GH01I067264 67264473 67265573 0.51 [{'connected_gene': 'GC01M067200', 'score': 550.77}, {'connected_gene': 'IL12RB2', 'score': 12.54}, {'connected_gene': 'RNU4ATAC4P', 'score': 0.77}]

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