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
ENST00000420864 [[177134122, 177134397], [177134943, 177135147], [177161587, 177161635], [177162576, 177162623], [177188119, 177188192], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194028, 177194154], [177195311, 177195388], [177202220, 177202753]] [[177134357, 177134397], [177134943, 177135017]]
ENST00000249442 [[177134146, 177134397], [177161587, 177161635], [177162576, 177162623], [177188119, 177188192], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194028, 177194154], [177195311, 177195388], [177202220, 177202753]] [[177134357, 177134397], [177161587, 177161635], [177162576, 177162623], [177188119, 177188192], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194028, 177194154], [177195311, 177195388], [177202220, 177202392]]
ENST00000423461 [[177134179, 177134397], [177161587, 177161635], [177162576, 177162623], [177168968, 177169093], [177188119, 177188192], [177191552, 177191629], [177193020, 177193050]] [[177134357, 177134397], [177161587, 177161635], [177162576, 177162623], [177168968, 177168971]]
ENST00000392529 [[177134186, 177134397], [177134943, 177135147], [177161587, 177161635], [177162576, 177162623], [177188119, 177188192], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194028, 177194154], [177195311, 177195388], [177202220, 177202746]] [[177135137, 177135147], [177161587, 177161635], [177162576, 177162623], [177188119, 177188192], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194028, 177194154], [177195311, 177195388], [177202220, 177202392]]
ENST00000443241 [[177134197, 177134397], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194028, 177194154], [177195311, 177195388], [177202220, 177202407]] [[177134357, 177134397], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194028, 177194154], [177195311, 177195388], [177202220, 177202392]]
ENST00000452865 [[177134229, 177134397], [177161587, 177161635], [177162576, 177162623], [177188119, 177188192], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194097, 177194154], [177195311, 177195388], [177202220, 177202358]] [[177134357, 177134397], [177161587, 177161635], [177162576, 177162623], [177188119, 177188192], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194097, 177194154], [177195311, 177195388], [177202220, 177202358]]
NM_001319097 [[177134122, 177134397], [177161587, 177161635], [177162576, 177162623], [177188119, 177188192], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194097, 177194154], [177195311, 177195388], [177202220, 177202753]] [[177134357, 177134397], [177161587, 177161635], [177162576, 177162623], [177188119, 177188192], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194097, 177194154], [177195311, 177195388], [177202220, 177202392]]
NM_001319098 [[177134122, 177134397], [177161587, 177161635], [177162576, 177162623], [177188119, 177188192], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194028, 177194154], [177202220, 177202753]] [[177134357, 177134397], [177161587, 177161635], [177162576, 177162623], [177188119, 177188192], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194028, 177194154], [177202220, 177202229]]
NM_006554 [[177134122, 177134397], [177161587, 177161635], [177162576, 177162623], [177188119, 177188192], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194028, 177194154], [177195311, 177195388], [177202220, 177202753]] [[177134357, 177134397], [177161587, 177161635], [177162576, 177162623], [177188119, 177188192], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194028, 177194154], [177195311, 177195388], [177202220, 177202392]]
NM_001006635 [[177134122, 177134397], [177134943, 177135147], [177161587, 177161635], [177162576, 177162623], [177188119, 177188192], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194028, 177194154], [177195311, 177195388], [177202220, 177202753]] [[177135137, 177135147], [177161587, 177161635], [177162576, 177162623], [177188119, 177188192], [177191552, 177191629], [177193020, 177193113], [177193601, 177193640], [177194028, 177194154], [177195311, 177195388], [177202220, 177202392]]
Promoter
Chrom Start End Description
chr2 177134134 177134197 CAGE_peak_1_at_MTX2_5end
chr2 177134201 177134212 CAGE_peak_2_at_MTX2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I176297 176297070 176297458 0.95 [{'connected_gene': 'HAGLR', 'score': 10.05}, {'connected_gene': 'HOXD1', 'score': 10.05}, {'connected_gene': 'GC02P176303', 'score': 0.44}, {'connected_gene': 'GC02P176273', 'score': 0.34}, {'connected_gene': 'MTX2', 'score': 0.31}]
chr2 GH02I176268 176268801 176270656 2.07 [{'connected_gene': 'MTX2', 'score': 550.77}, {'connected_gene': 'HNRNPA3', 'score': 12.82}, {'connected_gene': 'DNAJC19P5', 'score': 10.02}, {'connected_gene': 'GC02P176273', 'score': 0.77}]