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
ENST00000437504 [[9966773, 9967167], [10023769, 10023864]] None
ENST00000378392 [[10015688, 10015981], [10016226, 10016290], [10018905, 10019295], [10023769, 10023969], [10025041, 10025191], [10026221, 10026345], [10030037, 10030860], [10032310, 10032537], [10033759, 10033923], [10035109, 10035247], [10036149, 10036470]] [[10018949, 10019295], [10023769, 10023969], [10025041, 10025191], [10026221, 10026345], [10030037, 10030860], [10032310, 10032537], [10033759, 10033923], [10035109, 10035247], [10036149, 10036308]]
ENST00000378380 [[10015696, 10015981], [10018905, 10019295], [10023769, 10023969], [10025041, 10025191], [10026221, 10026345], [10030037, 10030860], [10032310, 10032537], [10033759, 10033923], [10035109, 10035247], [10036149, 10037410]] [[10018949, 10019295], [10023769, 10023969], [10025041, 10025191], [10026221, 10026345], [10030037, 10030860], [10032310, 10032537], [10033759, 10033923], [10035109, 10035247], [10036149, 10036308]]
ENST00000488991 [[10015764, 10015981], [10018905, 10019295], [10021272, 10021318], [10023769, 10023969], [10025041, 10025191], [10026221, 10026345], [10030037, 10030860], [10032310, 10032537], [10033759, 10033923], [10035109, 10035247], [10036149, 10036475]] None
NM_198798 [[10015646, 10015981], [10018905, 10019295], [10023769, 10023969], [10025041, 10025191], [10026221, 10026345], [10030037, 10030860], [10032310, 10032537], [10033759, 10033923], [10035109, 10035247], [10036149, 10037410]] [[10018949, 10019295], [10023769, 10023969], [10025041, 10025191], [10026221, 10026345], [10030037, 10030860], [10032310, 10032537], [10033759, 10033923], [10035109, 10035247], [10036149, 10036308]]
NM_001303472 [[10015646, 10015981], [10018905, 10019295], [10021272, 10021318], [10023769, 10023969], [10025041, 10025191], [10026221, 10026345], [10030037, 10030860], [10032310, 10032537], [10033759, 10033923], [10035109, 10035247], [10036149, 10037410]] [[10025062, 10025191], [10026221, 10026345], [10030037, 10030860], [10032310, 10032537], [10033759, 10033923], [10035109, 10035247], [10036149, 10036308]]
NM_022096 [[10015646, 10015981], [10016226, 10016290], [10018905, 10019295], [10023769, 10023969], [10025041, 10025191], [10026221, 10026345], [10030037, 10030860], [10032310, 10032537], [10033759, 10033923], [10035109, 10035247], [10036149, 10037410]] [[10018949, 10019295], [10023769, 10023969], [10025041, 10025191], [10026221, 10026345], [10030037, 10030860], [10032310, 10032537], [10033759, 10033923], [10035109, 10035247], [10036149, 10036308]]
Promoter
Chrom Start End Description
chr20 10015612 10015675 CAGE_peak_2_at_ANKRD5_5end
chr20 10015678 10015766 CAGE_peak_1_at_ANKRD5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I010074 10074226 10079034 1.14 [{'connected_gene': 'ANKEF1', 'score': 19.5}, {'connected_gene': 'SNAP25-AS1', 'score': 10.84}, {'connected_gene': 'GC20M010116', 'score': 0.26}, {'connected_gene': 'ENSG00000276525', 'score': 0.23}]
chr20 GH20I010090 10090673 10090822 0.76 [{'connected_gene': 'ANKEF1', 'score': 8.81}, {'connected_gene': 'GC20M010116', 'score': 0.31}, {'connected_gene': 'ENSG00000276525', 'score': 0.21}, {'connected_gene': 'SNAP25-AS1', 'score': 0.06}]
chr20 GH20I010034 10034433 10035985 1.98 [{'connected_gene': 'ANKEF1', 'score': 563.22}, {'connected_gene': 'ENSG00000276525', 'score': 0.44}, {'connected_gene': 'GC20M010116', 'score': 0.18}, {'connected_gene': 'SNAP25-AS1', 'score': 0.06}]
chr20 GH20I010080 10080053 10080382 0.72 [{'connected_gene': 'ANKEF1', 'score': 23.04}, {'connected_gene': 'GC20M010116', 'score': 0.28}, {'connected_gene': 'ENSG00000276525', 'score': 0.23}, {'connected_gene': 'SNAP25-AS1', 'score': 0.06}]
chr20 GH20I010093 10093093 10093982 0.79 [{'connected_gene': 'ANKEF1', 'score': 7.28}, {'connected_gene': 'GC20M010116', 'score': 0.34}, {'connected_gene': 'ENSG00000276525', 'score': 0.2}, {'connected_gene': 'SNAP25-AS1', 'score': 0.06}]
chr20 GH20I009977 9977818 9978870 1.04 [{'connected_gene': 'ANKEF1', 'score': 0.44}, {'connected_gene': 'GC20M009874', 'score': 0.15}]
chr20 GH20I009919 9919201 9919400 0.38 [{'connected_gene': 'PAK5', 'score': 9.46}, {'connected_gene': 'GC20M009874', 'score': 0.26}, {'connected_gene': 'ANKEF1', 'score': 0.2}]
chr20 GH20I010084 10084174 10086501 0.31 [{'connected_gene': 'SNAP25-AS1', 'score': 8.39}, {'connected_gene': 'ANKEF1', 'score': 7.37}, {'connected_gene': 'GC20M010116', 'score': 0.29}, {'connected_gene': 'ENSG00000276525', 'score': 0.22}]
chr20 GH20I009989 9989000 9989401 0.4 [{'connected_gene': 'SNAP25-AS1', 'score': 11.44}, {'connected_gene': 'PARAL1', 'score': 0.77}, {'connected_gene': 'ANKEF1', 'score': 0.77}, {'connected_gene': 'GC20P010021', 'score': 0.29}]
chr20 GH20I010040 10040253 10040402 0.66 [{'connected_gene': 'ENSG00000276525', 'score': 0.39}, {'connected_gene': 'ANKEF1', 'score': 0.23}, {'connected_gene': 'GC20M010116', 'score': 0.18}, {'connected_gene': 'SNAP25-AS1', 'score': 0.05}]