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
ENST00000381571 [[47452884, 47453682], [47455075, 47455231], [47458593, 47458746], [47462160, 47462316], [47465602, 47465736]] [[47453661, 47453682], [47455075, 47455231], [47458593, 47458746], [47462160, 47462316], [47465602, 47465668]]
ENST00000509220 [[47461863, 47462316], [47465602, 47465682]] None
NM_017845 [[47452803, 47453682], [47455075, 47455231], [47458593, 47458746], [47462160, 47462316], [47465602, 47465747]] [[47453661, 47453682], [47455075, 47455231], [47458593, 47458746], [47462160, 47462316], [47465602, 47465668]]
NM_001329668 [[47452803, 47453682], [47455075, 47455231], [47458599, 47458746], [47462160, 47462316], [47465602, 47465747]] [[47453661, 47453682], [47455075, 47455231], [47458599, 47458746], [47462160, 47462316], [47465602, 47465668]]
Promoter
Chrom Start End Description
chr4 47465666 47465726 CAGE_peak_1_at_COMMD8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I047498 47498275 47501036 0.96 [{'connected_gene': 'COMMD8', 'score': 11.79}, {'connected_gene': 'ATP10D', 'score': 4.98}, {'connected_gene': 'RPL21P52', 'score': 0.44}, {'connected_gene': 'GC04P047550', 'score': 0.23}]
chr4 GH04I047471 47471128 47472774 0.55 [{'connected_gene': 'COMMD8', 'score': 8.33}, {'connected_gene': 'LOC107986277', 'score': 0.44}, {'connected_gene': 'ATP10D', 'score': 0.39}]
chr4 GH04I047468 47468438 47469666 0.31 [{'connected_gene': 'COMMD8', 'score': 5.81}, {'connected_gene': 'LOC107986277', 'score': 0.44}, {'connected_gene': 'ATP10D', 'score': 0.37}]
chr4 GH04I047465 47465046 47465320 0.63 [{'connected_gene': 'COMMD8', 'score': 556.15}, {'connected_gene': 'LOC107986277', 'score': 550.77}, {'connected_gene': 'CNGA1', 'score': 5.76}, {'connected_gene': 'ATP10D', 'score': 0.34}]
chr4 GH04I047462 47462418 47464942 2 [{'connected_gene': 'COMMD8', 'score': 558.6}, {'connected_gene': 'LOC107986277', 'score': 550.77}, {'connected_gene': 'CNGA1', 'score': 5.76}, {'connected_gene': 'ATP10D', 'score': 5.6}, {'connected_gene': 'GC04M047447', 'score': 0.44}]
chr4 GH04I047493 47493526 47493868 0.81 [{'connected_gene': 'COMMD8', 'score': 13.78}, {'connected_gene': 'RPL21P52', 'score': 0.77}, {'connected_gene': 'ATP10D', 'score': 0.44}, {'connected_gene': 'GC04P047550', 'score': 0.22}]
chr4 GH04I048359 48359661 48361843 0.69 [{'connected_gene': 'SLC10A4', 'score': 8.84}, {'connected_gene': 'SLAIN2', 'score': 7.78}, {'connected_gene': 'COMMD8', 'score': 4.6}, {'connected_gene': 'GC04M048339', 'score': 0.37}]