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
ENST00000371532 [[53308182, 53308645], [53320136, 53320302], [53326402, 53326543], [53329652, 53329829], [53332174, 53332239], [53333210, 53333310], [53333398, 53333449], [53343353, 53343515], [53343596, 53343641], [53347142, 53347337], [53351504, 53351566], [53352627, 53352725], [53358453, 53360670]] [[53326420, 53326543], [53329652, 53329829], [53332174, 53332239], [53333210, 53333310], [53333398, 53333449], [53343353, 53343515], [53343596, 53343641], [53347142, 53347337], [53351504, 53351566], [53352627, 53352725], [53358453, 53358629]]
ENST00000371528 [[53308407, 53308645], [53320136, 53320302], [53322669, 53323421], [53326402, 53326543], [53329652, 53329829], [53332174, 53332239], [53333210, 53333310], [53333398, 53333449], [53343353, 53343515], [53343596, 53343641], [53347142, 53347337], [53351504, 53351566], [53352627, 53352725], [53358453, 53360670]] [[53308555, 53308645], [53320136, 53320302], [53322669, 53323421], [53326402, 53326543], [53329652, 53329829], [53332174, 53332239], [53333210, 53333310], [53333398, 53333449], [53343353, 53343515], [53343596, 53343641], [53347142, 53347337], [53351504, 53351566], [53352627, 53352725], [53358453, 53358629]]
NM_001307931 [[53308182, 53308645], [53320136, 53320302], [53326402, 53326543], [53329652, 53329829], [53332174, 53332239], [53333210, 53333310], [53333398, 53333449], [53343353, 53343515], [53343596, 53343641], [53347142, 53347337], [53351504, 53351566], [53352627, 53352725], [53358453, 53360247]] [[53326420, 53326543], [53329652, 53329829], [53332174, 53332239], [53333210, 53333310], [53333398, 53333449], [53343353, 53343515], [53343596, 53343641], [53347142, 53347337], [53351504, 53351566], [53352627, 53352725], [53358453, 53358629]]
NM_001004339 [[53308182, 53308645], [53320136, 53320302], [53322669, 53323421], [53326402, 53326543], [53329652, 53329829], [53332174, 53332239], [53333210, 53333310], [53333398, 53333449], [53343353, 53343515], [53343596, 53343641], [53347142, 53347337], [53351504, 53351566], [53352627, 53352725], [53358453, 53360247]] [[53308555, 53308645], [53320136, 53320302], [53322669, 53323421], [53326402, 53326543], [53329652, 53329829], [53332174, 53332239], [53333210, 53333310], [53333398, 53333449], [53343353, 53343515], [53343596, 53343641], [53347142, 53347337], [53351504, 53351566], [53352627, 53352725], [53358453, 53358629]]
Promoter
Chrom Start End Description
chr1 53308398 53308413 CAGE_peak_5_at_ZYG11A_5end
chr1 53308414 53308423 CAGE_peak_6_at_ZYG11A_5end
chr1 53308425 53308442 CAGE_peak_1_at_ZYG11A_5end
chr1 53308505 53308544 CAGE_peak_2_at_ZYG11A_5end
chr1 53308550 53308574 CAGE_peak_3_at_ZYG11A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I052725 52725800 52728001 2.04 [{'connected_gene': 'ZYG11B', 'score': 560.96}, {'connected_gene': 'PRPF38A', 'score': 19.43}, {'connected_gene': 'ORC1', 'score': 17.08}, {'connected_gene': 'MAGOH', 'score': 13.86}, {'connected_gene': 'RPS13P2', 'score': 12.36}, {'connected_gene': 'ECHDC2', 'score': 11.64}, {'connected_gene': 'ENSG00000230953', 'score': 11.38}, {'connected_gene': 'ENSG00000266993', 'score': 10.61}, {'connected_gene': 'ZYG11A', 'score': 4.32}, {'connected_gene': 'GC01P052729', 'score': 0.77}]
chr1 GH01I053393 53393429 53394184 0.7 [{'connected_gene': 'LRP8', 'score': 12.83}, {'connected_gene': 'ENSG00000228838', 'score': 12.77}, {'connected_gene': 'LOC105378728', 'score': 12.74}, {'connected_gene': 'LINC01771', 'score': 11.68}, {'connected_gene': 'ZYG11A', 'score': 11.19}, {'connected_gene': 'ENSG00000230138', 'score': 0.31}, {'connected_gene': 'LOC105378733', 'score': 0.25}]
chr1 GH01I053139 53139351 53141250 1.11 [{'connected_gene': 'SLC1A7', 'score': 15.79}, {'connected_gene': 'PODN', 'score': 11.77}, {'connected_gene': 'ZYG11A', 'score': 5.22}, {'connected_gene': 'GC01P053132', 'score': 0.44}]
chr1 GH01I052867 52867044 52868112 0.66 [{'connected_gene': 'ECHDC2', 'score': 11.32}, {'connected_gene': 'ZYG11B', 'score': 10.01}, {'connected_gene': 'SLC1A7', 'score': 5.86}, {'connected_gene': 'PIR36649', 'score': 0.39}, {'connected_gene': 'ENSG00000242391', 'score': 0.39}, {'connected_gene': 'ZYG11A', 'score': 0.31}]
chr1 GH01I052842 52842149 52845519 2.04 [{'connected_gene': 'ZYG11A', 'score': 550.77}, {'connected_gene': 'ECHDC2', 'score': 13.43}, {'connected_gene': 'PRPF38A', 'score': 12.97}, {'connected_gene': 'MAGOH', 'score': 12.18}, {'connected_gene': 'ENSG00000272100', 'score': 11.99}, {'connected_gene': 'ZFYVE9', 'score': 11.42}, {'connected_gene': 'ZYG11B', 'score': 11.22}, {'connected_gene': 'ZCCHC11', 'score': 10.51}, {'connected_gene': 'KTI12', 'score': 9.81}, {'connected_gene': 'PIR36649', 'score': 0.39}]
chr1 GH01I052833 52833630 52833798 0.8 [{'connected_gene': 'ZYG11A', 'score': 0.44}, {'connected_gene': 'GC01P052823', 'score': 0.39}]