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
ENST00000307201 [[27887564, 27890104], [27893103, 27894155]] [[27889578, 27890104], [27893103, 27893984]]
NM_198147 [[27887678, 27890104], [27893103, 27894042]] [[27889578, 27890104], [27893103, 27893984]]
Promoter
Chrom Start End Description
chr17 27893990 27894060 CAGE_peak_1_at_ABHD15_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I029565 29565091 29569916 2 [{'connected_gene': 'TP53I13', 'score': 596.0}, {'connected_gene': 'ABHD15', 'score': 556.03}, {'connected_gene': 'CORO6', 'score': 15.93}, {'connected_gene': 'ANKRD13B', 'score': 4.87}, {'connected_gene': 'ENSG00000264290', 'score': 0.77}, {'connected_gene': 'ABHD15-AS1', 'score': 0.44}]
chr17 GH17I029497 29497920 29497927 0.22 [{'connected_gene': 'TP53I13', 'score': 11.67}, {'connected_gene': 'ABHD15', 'score': 11.67}, {'connected_gene': 'TAOK1', 'score': 2.15}, {'connected_gene': 'EFCAB5', 'score': 1.94}, {'connected_gene': 'MYO18A', 'score': 1.5}, {'connected_gene': 'ANKRD13B', 'score': 1.28}, {'connected_gene': 'TIAF1', 'score': 1.27}, {'connected_gene': 'GC17P029533', 'score': 0.28}, {'connected_gene': 'RNU6-1034P', 'score': 0.23}]
chr17 GH17I029563 29563802 29564216 0.54 [{'connected_gene': 'ABHD15', 'score': 5.88}, {'connected_gene': 'SSH2', 'score': 1.3}, {'connected_gene': 'TP53I13', 'score': 0.77}, {'connected_gene': 'ABHD15-AS1', 'score': 0.77}]
chr17 GH17I029561 29561603 29562610 0.63 [{'connected_gene': 'ABHD15-AS1', 'score': 550.77}, {'connected_gene': 'TP53I13', 'score': 9.3}, {'connected_gene': 'ABHD15', 'score': 0.44}]
chr17 GH17I029560 29560201 29561000 0.8 [{'connected_gene': 'ABHD15-AS1', 'score': 550.77}, {'connected_gene': 'TP53I13', 'score': 0.44}, {'connected_gene': 'ABHD15', 'score': 0.44}]
chr17 GH17I030404 30404729 30405801 0.76 [{'connected_gene': 'ENSG00000264456', 'score': 17.05}, {'connected_gene': 'SH3GL1P2', 'score': 14.75}, {'connected_gene': 'RNF135', 'score': 14.14}, {'connected_gene': 'ENSG00000264290', 'score': 14.12}, {'connected_gene': 'DPRXP4', 'score': 11.24}, {'connected_gene': 'ABHD15', 'score': 5.0}, {'connected_gene': 'GC17P030389', 'score': 0.37}, {'connected_gene': 'CPD', 'score': 0.31}, {'connected_gene': 'GC17P030463', 'score': 0.22}]