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
ENST00000245323 [[107142078, 107145776], [107147228, 107147342], [107148095, 107148188], [107164876, 107165160], [107187190, 107187462]] [[107145387, 107145776], [107147228, 107147342], [107148095, 107148188], [107164876, 107165160], [107187190, 107187312]]
NM_004093 [[107142078, 107145776], [107147228, 107147342], [107148095, 107148188], [107164876, 107165160], [107187190, 107187388]] [[107145387, 107145776], [107147228, 107147342], [107148095, 107148188], [107164876, 107165160], [107187190, 107187312]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I106563 106563401 106563600 0.2 [{'connected_gene': 'ARGLU1', 'score': 0.77}, {'connected_gene': 'EFNB2', 'score': 0.31}]
chr13 GH13I106565 106563853 106564102 0.2 [{'connected_gene': 'ARGLU1', 'score': 0.77}, {'connected_gene': 'EFNB2', 'score': 0.31}]
chr13 GH13I106561 106561013 106562800 0.88 [{'connected_gene': 'ARGLU1', 'score': 12.21}, {'connected_gene': 'EFNB2', 'score': 0.31}]
chr13 GH13I106557 106557476 106557846 0.4 [{'connected_gene': 'ARGLU1', 'score': 0.39}, {'connected_gene': 'EFNB2', 'score': 0.34}]
chr13 GH13I106564 106564949 106571082 2.44 [{'connected_gene': 'ARGLU1', 'score': 572.42}, {'connected_gene': 'LOC105370348', 'score': 550.77}, {'connected_gene': 'LINC00443', 'score': 18.66}, {'connected_gene': 'EFNB2', 'score': 0.29}]
chr13 GH13I106537 106537369 106538201 0.2 [{'connected_gene': 'EFNB2', 'score': 0.77}, {'connected_gene': 'ARGLU1', 'score': 0.29}]
chr13 GH13I106529 106529050 106537182 2.85 [{'connected_gene': 'EFNB2', 'score': 553.53}, {'connected_gene': 'LINC00443', 'score': 9.28}, {'connected_gene': 'GC13P106529', 'score': 0.77}]
chr13 GH13I106521 106521273 106524402 1.12 [{'connected_gene': 'LINC00443', 'score': 7.25}, {'connected_gene': 'GC13P106529', 'score': 0.44}, {'connected_gene': 'EFNB2', 'score': 0.39}, {'connected_gene': 'ENSG00000274204', 'score': 0.37}]
chr13 GH13I106527 106527334 106528318 0.49 [{'connected_gene': 'LINC00443', 'score': 7.45}, {'connected_gene': 'GC13P106529', 'score': 0.77}, {'connected_gene': 'EFNB2', 'score': 0.44}, {'connected_gene': 'ENSG00000274204', 'score': 0.34}]
chr13 GH13I106506 106506540 106509527 1.23 [{'connected_gene': 'ENSG00000274204', 'score': 550.77}, {'connected_gene': 'GC13P106529', 'score': 0.34}, {'connected_gene': 'EFNB2', 'score': 0.31}]
chr13 GH13I106526 106526853 106527002 0.2 [{'connected_gene': 'GC13P106529', 'score': 0.77}, {'connected_gene': 'EFNB2', 'score': 0.44}, {'connected_gene': 'ENSG00000274204', 'score': 0.34}]
chr13 GH13I106520 106520273 106520600 0.83 [{'connected_gene': 'GC13P106529', 'score': 0.44}, {'connected_gene': 'ENSG00000274204', 'score': 0.39}, {'connected_gene': 'EFNB2', 'score': 0.39}]
chr13 GH13I106512 106512560 106515175 1.12 [{'connected_gene': 'ENSG00000274204', 'score': 0.44}, {'connected_gene': 'GC13P106529', 'score': 0.37}, {'connected_gene': 'EFNB2', 'score': 0.34}]
chr13 GH13I106498 106498166 106499326 0.83 [{'connected_gene': 'ENSG00000274204', 'score': 0.44}, {'connected_gene': 'LOC105370346', 'score': 0.34}, {'connected_gene': 'EFNB2', 'score': 0.28}]
chr13 GH13I106499 106499453 106500179 0.76 [{'connected_gene': 'ENSG00000274204', 'score': 0.44}, {'connected_gene': 'LOC105370346', 'score': 0.31}, {'connected_gene': 'EFNB2', 'score': 0.28}]
chr13 GH13I106490 106490453 106495117 1.08 [{'connected_gene': 'ENSG00000274204', 'score': 0.39}, {'connected_gene': 'LOC105370346', 'score': 0.37}, {'connected_gene': 'EFNB2', 'score': 0.26}]
chr13 GH13I106495 106495536 106497509 0.78 [{'connected_gene': 'ENSG00000274204', 'score': 0.39}, {'connected_gene': 'LOC105370346', 'score': 0.34}, {'connected_gene': 'EFNB2', 'score': 0.28}]