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
ENST00000352536 [[117586720, 117587007], [117589344, 117589654], [117593616, 117594728]] [[117586926, 117587007], [117589344, 117589654], [117593616, 117593657]]
ENST00000326274 [[117586736, 117587007], [117589344, 117589654], [117591705, 117592227], [117593616, 117594725]] [[117586926, 117587007], [117589344, 117589654], [117591705, 117592227], [117593616, 117593657]]
NM_153453 [[117586720, 117587007], [117589344, 117589654], [117593616, 117594728]] [[117586926, 117587007], [117589344, 117589654], [117593616, 117593657]]
NM_182645 [[117586720, 117587007], [117589344, 117589654], [117591705, 117592227], [117593616, 117594728]] [[117586926, 117587007], [117589344, 117589654], [117591705, 117592227], [117593616, 117593657]]
Promoter
Chrom Start End Description
chr6 117586713 117586727 CAGE_peak_1_at_VGLL2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I117165 117165681 117170537 1.07 [{'connected_gene': 'VGLL2', 'score': 7.85}, {'connected_gene': 'NEPNP', 'score': 4.63}, {'connected_gene': 'GC06M117235', 'score': 0.2}, {'connected_gene': 'RNA5SP214', 'score': 0.14}]
chr6 GH06I117264 117264518 117271136 1.96 [{'connected_gene': 'VGLL2', 'score': 563.91}, {'connected_gene': 'KPNA5', 'score': 4.82}, {'connected_gene': 'LOC105377964', 'score': 0.77}, {'connected_gene': 'RN7SKP18', 'score': 0.29}]
chr6 GH06I117287 117287443 117292134 0.56 [{'connected_gene': 'VGLL2', 'score': 11.79}, {'connected_gene': 'RN7SKP18', 'score': 0.44}, {'connected_gene': 'ROS1', 'score': 0.12}]
chr6 GH06I117272 117271906 117273580 0.97 [{'connected_gene': 'VGLL2', 'score': 13.39}, {'connected_gene': 'RN7SKP18', 'score': 0.31}]
chr6 GH06I117271 117271411 117271481 0.58 [{'connected_gene': 'VGLL2', 'score': 0.44}, {'connected_gene': 'RN7SKP18', 'score': 0.31}]
chr6 GH06I117155 117155895 117158483 0.31 [{'connected_gene': 'VGLL2', 'score': 7.78}, {'connected_gene': 'ENSG00000237021', 'score': 4.48}, {'connected_gene': 'GC06M117235', 'score': 0.18}, {'connected_gene': 'RNA5SP214', 'score': 0.15}]
chr6 GH06I117231 117231269 117233817 0.31 [{'connected_gene': 'VGLL2', 'score': 16.36}, {'connected_gene': 'GC06M117235', 'score': 0.77}, {'connected_gene': 'RNA5SP214', 'score': 0.09}]
chr6 GH06I117298 117298537 117299814 0.2 [{'connected_gene': 'RN7SKP18', 'score': 550.77}, {'connected_gene': 'VGLL2', 'score': 11.18}, {'connected_gene': 'ROS1', 'score': 0.13}]
chr6 GH06I117283 117283751 117284971 0.2 [{'connected_gene': 'RN7SKP18', 'score': 0.37}, {'connected_gene': 'VGLL2', 'score': 0.37}]
chr6 GH06I117300 117300118 117301317 0.43 [{'connected_gene': 'RN7SKP18', 'score': 550.77}, {'connected_gene': 'RN7SKP51', 'score': 550.77}, {'connected_gene': 'GOPC', 'score': 16.85}, {'connected_gene': 'KPNA5', 'score': 12.96}, {'connected_gene': 'VGLL2', 'score': 11.16}, {'connected_gene': 'DCBLD1', 'score': 4.65}, {'connected_gene': 'ROS1', 'score': 0.13}]
chr6 GH06I117302 117302008 117304752 0.2 [{'connected_gene': 'RN7SKP51', 'score': 550.77}, {'connected_gene': 'VGLL2', 'score': 11.16}, {'connected_gene': 'PIR51228', 'score': 0.34}, {'connected_gene': 'ROS1', 'score': 0.13}]