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
ENST00000316981 [[57073462, 57080062], [57080586, 57080945], [57083649, 57083748], [57091967, 57092072], [57123679, 57123838]] [[57078801, 57080062], [57080586, 57080828]]
ENST00000522009 [[57078592, 57080062], [57080586, 57080945], [57083649, 57083983]] None
ENST00000423799 [[57078657, 57080062], [57083649, 57083748], [57123679, 57123859]] [[57078801, 57080058]]
ENST00000429357 [[57078801, 57080062], [57080586, 57080945], [57083649, 57083748], [57123679, 57123859]] [[57078801, 57080062], [57080586, 57080828]]
ENST00000519027 [[57121811, 57122042], [57123679, 57123883]] None
NM_002655 [[57073467, 57080062], [57080586, 57080945], [57083649, 57083748], [57091967, 57092072], [57123679, 57123859]] [[57078801, 57080062], [57080586, 57080828]]
NM_001114634 [[57073467, 57080062], [57080586, 57080945], [57083649, 57083748], [57123679, 57123859]] [[57078801, 57080062], [57080586, 57080828]]
NM_001114635 [[57073467, 57080062], [57083649, 57083748], [57123679, 57123859]] [[57078801, 57080058]]
Promoter
Chrom Start End Description
chr8 57123815 57123867 CAGE_peak_1_at_PLAG1_5end
chr8 57123873 57123894 CAGE_peak_2_at_PLAG1_5end
chr8 57123898 57123909 CAGE_peak_3_at_PLAG1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I056242 56242042 56242191 0.7 [{'connected_gene': 'CHCHD7', 'score': 11.6}, {'connected_gene': 'PLAG1', 'score': 11.6}, {'connected_gene': 'RPS20', 'score': 4.52}, {'connected_gene': 'PIR62677', 'score': 0.39}, {'connected_gene': 'ENSG00000254216', 'score': 0.39}]
chr8 GH08I056173 56173257 56174502 0.49 [{'connected_gene': 'CHCHD7', 'score': 11.6}, {'connected_gene': 'PLAG1', 'score': 11.6}, {'connected_gene': 'MOS', 'score': 11.24}, {'connected_gene': 'GC08M056160', 'score': 0.44}, {'connected_gene': 'GC08M056122', 'score': 0.23}, {'connected_gene': 'ENSG00000221093', 'score': 0.23}]
chr8 GH08I056168 56167992 56168433 0.4 [{'connected_gene': 'CHCHD7', 'score': 10.84}, {'connected_gene': 'PLAG1', 'score': 10.84}, {'connected_gene': 'MOS', 'score': 10.78}, {'connected_gene': 'GC08M056160', 'score': 0.39}, {'connected_gene': 'GC08M056122', 'score': 0.25}, {'connected_gene': 'ENSG00000221093', 'score': 0.25}]
chr8 GH08I056209 56209273 56213001 2.03 [{'connected_gene': 'CHCHD7', 'score': 556.05}, {'connected_gene': 'PLAG1', 'score': 550.77}, {'connected_gene': 'TGS1', 'score': 13.22}, {'connected_gene': 'RPS20', 'score': 7.04}, {'connected_gene': 'GC08M056160', 'score': 0.31}]
chr8 GH08I056167 56167222 56167371 0.31 [{'connected_gene': 'MOS', 'score': 10.88}, {'connected_gene': 'CHCHD7', 'score': 10.84}, {'connected_gene': 'PLAG1', 'score': 10.84}, {'connected_gene': 'GC08M056160', 'score': 0.37}, {'connected_gene': 'GC08M056122', 'score': 0.25}, {'connected_gene': 'ENSG00000221093', 'score': 0.25}]
chr8 GH08I056189 56189282 56189431 0.43 [{'connected_gene': 'GC08M056160', 'score': 0.44}, {'connected_gene': 'PLAG1', 'score': 0.34}]