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
ENST00000494280 [[15792403, 15792639], [15793880, 15794033], [15802951, 15803040], [15807592, 15807690], [15808759, 15808888], [15809758, 15809863]] None
ENST00000375910 [[15802595, 15802660], [15802951, 15803040], [15807592, 15807690], [15808759, 15808888], [15809758, 15809895], [15812395, 15812541], [15813779, 15813932], [15817789, 15817895]] [[15802620, 15802660], [15802951, 15803040], [15807592, 15807690], [15808759, 15808888], [15809758, 15809895], [15812395, 15812541], [15813779, 15813932], [15817789, 15817807]]
ENST00000422901 [[15802959, 15803040], [15807592, 15807690], [15808139, 15808244], [15808759, 15808852]] [[15802959, 15803040], [15807592, 15807690], [15808139, 15808244], [15808759, 15808852]]
ENST00000488764 [[15812355, 15812541], [15813779, 15813932], [15817789, 15817890]] None
NM_015849 [[15802595, 15802660], [15802951, 15803040], [15807592, 15807690], [15808759, 15808888], [15809758, 15809895], [15812395, 15812541], [15813779, 15813932], [15817789, 15817895]] [[15802620, 15802660], [15802951, 15803040], [15807592, 15807690], [15808759, 15808888], [15809758, 15809895], [15812395, 15812541], [15813779, 15813932], [15817789, 15817807]]
Promoter
Chrom Start End Description
chr1 15792497 15792510 CAGE_peak_2_at_CELA2B_5end
chr1 15792576 15792580 CAGE_peak_5_at_CELA2B_5end
chr1 15792586 15792590 CAGE_peak_4_at_CELA2B_5end
chr1 15792609 15792616 CAGE_peak_3_at_CELA2B_5end
chr1 15802594 15802601 CAGE_peak_1_at_CELA2B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I015475 15474606 15475405 0.31 [{'connected_gene': 'CASP9', 'score': 11.25}, {'connected_gene': 'GC01P015468', 'score': 0.44}, {'connected_gene': 'CELA2B', 'score': 0.44}]
chr1 GH01I015458 15458846 15461161 1.1 [{'connected_gene': 'AGMAT', 'score': 4.73}, {'connected_gene': 'SLC25A34', 'score': 4.25}, {'connected_gene': 'CELA2A', 'score': 3.45}, {'connected_gene': 'CELA2B', 'score': 3.11}, {'connected_gene': 'CTRC', 'score': 2.56}, {'connected_gene': 'PLEKHM2', 'score': 1.97}, {'connected_gene': 'LOC105376767', 'score': 0.77}]
chr1 GH01I015469 15469519 15470487 0.38 [{'connected_gene': 'AGMAT', 'score': 9.19}, {'connected_gene': 'SLC25A34', 'score': 7.93}, {'connected_gene': 'GC01P015468', 'score': 0.77}, {'connected_gene': 'CELA2B', 'score': 0.77}, {'connected_gene': 'CELA2A', 'score': 0.39}, {'connected_gene': 'CASP9', 'score': 0.22}]
chr1 GH01I015488 15488369 15489835 0.38 [{'connected_gene': 'AGMAT', 'score': 21.78}, {'connected_gene': 'CTRC', 'score': 11.96}, {'connected_gene': 'LOC101927417', 'score': 10.99}, {'connected_gene': 'FHAD1', 'score': 10.95}, {'connected_gene': 'GC01P015468', 'score': 0.34}, {'connected_gene': 'CELA2B', 'score': 0.34}, {'connected_gene': 'CASP9', 'score': 0.28}]
chr1 GH01I015476 15475906 15476114 1.14 [{'connected_gene': 'CELA2B', 'score': 550.39}, {'connected_gene': 'GC01P015468', 'score': 0.44}, {'connected_gene': 'CASP9', 'score': 0.23}]
chr1 GH01I015462 15462640 15465551 1.04 [{'connected_gene': 'CELA2B', 'score': 550.77}, {'connected_gene': 'LOC105376767', 'score': 550.77}, {'connected_gene': 'CELA2A', 'score': 8.24}, {'connected_gene': 'SLC25A34', 'score': 5.7}]
chr1 GH01I015474 15474370 15474385 0.2 [{'connected_gene': 'GC01P015468', 'score': 0.44}, {'connected_gene': 'CELA2B', 'score': 0.44}, {'connected_gene': 'CASP9', 'score': 0.23}]