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
ENST00000401094 [[2567414, 2568003], [2571538, 2571599], [2572772, 2573334], [2575702, 2575917], [2576731, 2577002], [2700153, 2700320], [2702383, 2702497], [2717335, 2717433], [2718141, 2718286]] [[2572806, 2573334], [2575702, 2575917], [2576731, 2577002], [2700153, 2700249]]
ENST00000401095 [[2572806, 2573334], [2575702, 2575917], [2576731, 2577002], [2700153, 2700320], [2702383, 2702588], [2704045, 2704271], [2706067, 2706236]] [[2572806, 2573334], [2575702, 2575917], [2576731, 2577002], [2700153, 2700320], [2702383, 2702588], [2704045, 2704271], [2706067, 2706156]]
ENST00000579787 [[2567414, 2571151]] None
ENST00000574621 [[2700270, 2700320], [2702383, 2702588], [2704045, 2704271], [2706067, 2706280]] [[2700270, 2700320], [2702383, 2702588], [2704045, 2704271], [2706067, 2706156]]
NM_001242672 [[2572806, 2573334], [2575702, 2575917], [2576731, 2577002], [2700153, 2700320], [2702383, 2702588], [2704045, 2704271], [2706067, 2706230]] [[2572806, 2573334], [2575702, 2575917], [2576731, 2577002], [2700153, 2700320], [2702383, 2702588], [2704045, 2704271], [2706067, 2706156]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I002640 2640940 2644129 1.49 [{'connected_gene': 'MMEL1', 'score': 41.7}, {'connected_gene': 'ACTRT2', 'score': 14.69}, {'connected_gene': 'FAM213B', 'score': 7.94}, {'connected_gene': 'MORN1', 'score': 1.4}, {'connected_gene': 'PANK4', 'score': 1.26}, {'connected_gene': 'GC01M002636', 'score': 0.77}, {'connected_gene': 'GC01P002648', 'score': 0.44}, {'connected_gene': 'TTC34', 'score': 0.1}]
chr1 GH01I003618 3618629 3619785 1.02 [{'connected_gene': 'TPRG1L', 'score': 15.47}, {'connected_gene': 'WRAP73', 'score': 5.81}, {'connected_gene': 'LRRC47', 'score': 5.44}, {'connected_gene': 'TTC34', 'score': 4.57}, {'connected_gene': 'ENSG00000238260', 'score': 0.44}, {'connected_gene': 'MEGF6', 'score': 0.44}, {'connected_gene': 'LOC105378607', 'score': 0.37}, {'connected_gene': 'GC01M003596', 'score': 0.26}]
chr1 GH01I002697 2697742 2697891 0.2 [{'connected_gene': 'LOC105378602', 'score': 0.77}, {'connected_gene': 'PIR46785', 'score': 0.39}, {'connected_gene': 'TTC34', 'score': 0.15}]
chr1 GH01I002789 2789768 2789827 0.61 [{'connected_gene': 'TTC34', 'score': 550.39}, {'connected_gene': 'GC01P002794', 'score': 0.77}, {'connected_gene': 'PIR50151', 'score': 0.44}, {'connected_gene': 'GC01P002783', 'score': 0.44}]
chr1 GH01I002654 2654242 2654271 0.2 [{'connected_gene': 'GC01P002650', 'score': 0.77}, {'connected_gene': 'PIR46785', 'score': 0.29}, {'connected_gene': 'TTC34', 'score': 0.11}]