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
ENST00000531293 [[107578103, 107578731], [107582688, 107582888], [107590341, 107590419]] [[107578560, 107578656]]
ENST00000305991 [[107578108, 107578731], [107582688, 107582787]] [[107578560, 107578656]]
ENST00000525934 [[107578337, 107578731], [107590341, 107590383]] [[107578560, 107578656]]
NM_003063 [[107578100, 107578731], [107582688, 107582787]] [[107578560, 107578656]]
Promoter
Chrom Start End Description
chr11 107578567 107578581 CAGE_peak_4_at_SLN_5end
chr11 107578623 107578640 CAGE_peak_3_at_SLN_5end
chr11 107578695 107578715 CAGE_peak_5_at_SLN_5end
chr11 107582775 107582788 CAGE_peak_1_at_SLN_5end
chr11 107590405 107590429 CAGE_peak_2_at_SLN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I107689 107689558 107690000 0.87 [{'connected_gene': 'ALKBH8', 'score': 12.18}, {'connected_gene': 'ELMOD1', 'score': 11.19}, {'connected_gene': 'SLN', 'score': 0.31}, {'connected_gene': 'ENSG00000254758', 'score': 0.25}]
chr11 GH11I107691 107691095 107691244 0.85 [{'connected_gene': 'ALKBH8', 'score': 12.18}, {'connected_gene': 'ELMOD1', 'score': 10.95}, {'connected_gene': 'SLN', 'score': 0.31}, {'connected_gene': 'ENSG00000254758', 'score': 0.25}]
chr11 GH11I107692 107692438 107693926 0.31 [{'connected_gene': 'SLN', 'score': 12.28}, {'connected_gene': 'ALKBH8', 'score': 12.18}, {'connected_gene': 'ELMOD1', 'score': 10.95}, {'connected_gene': 'SLC35F2', 'score': 6.32}, {'connected_gene': 'ENSG00000254758', 'score': 0.25}]
chr11 GH11I107695 107695323 107697405 1.06 [{'connected_gene': 'SLN', 'score': 12.31}, {'connected_gene': 'ALKBH8', 'score': 11.21}, {'connected_gene': 'ELMOD1', 'score': 10.76}, {'connected_gene': 'SLC35F2', 'score': 5.45}, {'connected_gene': 'ENSG00000254758', 'score': 0.23}]
chr11 GH11I107957 107957032 107957800 0.9 [{'connected_gene': 'SLN', 'score': 4.36}, {'connected_gene': 'ELMOD1', 'score': 4.15}, {'connected_gene': 'RAB39A', 'score': 0.31}, {'connected_gene': 'CUL5', 'score': 0.23}]
chr11 GH11I107741 107741210 107741224 0.9 [{'connected_gene': 'SLN', 'score': 11.83}, {'connected_gene': 'ELMOD1', 'score': 10.47}, {'connected_gene': 'LOC203930', 'score': 0.77}, {'connected_gene': 'RPLP2P3', 'score': 0.1}]
chr11 GH11I107758 107758975 107759124 0.6 [{'connected_gene': 'SLN', 'score': 11.3}, {'connected_gene': 'ELMOD1', 'score': 9.82}, {'connected_gene': 'LOC203930', 'score': 0.34}, {'connected_gene': 'RPLP2P3', 'score': 0.11}]
chr11 GH11I107742 107742435 107745176 0.58 [{'connected_gene': 'SLN', 'score': 18.14}, {'connected_gene': 'ELMOD1', 'score': 10.47}, {'connected_gene': 'LOC203930', 'score': 0.44}, {'connected_gene': 'RPLP2P3', 'score': 0.1}]
chr11 GH11I107708 107708915 107713418 1.36 [{'connected_gene': 'SLN', 'score': 559.11}, {'connected_gene': 'ELMOD1', 'score': 10.33}, {'connected_gene': 'ENSG00000254758', 'score': 0.2}]
chr11 GH11I107746 107746871 107748555 0.4 [{'connected_gene': 'SLN', 'score': 11.48}, {'connected_gene': 'SLC35F2', 'score': 5.81}, {'connected_gene': 'LOC203930', 'score': 0.44}, {'connected_gene': 'RPLP2P3', 'score': 0.1}]
chr11 GH11I107718 107718934 107723495 0.66 [{'connected_gene': 'SLN', 'score': 559.71}, {'connected_gene': 'DDX10', 'score': 12.95}, {'connected_gene': 'NPAT', 'score': 9.94}, {'connected_gene': 'SLC35F2', 'score': 5.79}, {'connected_gene': 'LOC203930', 'score': 0.37}]
chr11 GH11I107707 107707092 107708573 0.4 [{'connected_gene': 'SLN', 'score': 9.07}, {'connected_gene': 'ENSG00000254758', 'score': 0.21}]
chr11 GH11I107704 107704064 107705971 0.9 [{'connected_gene': 'ELMOD1', 'score': 10.56}, {'connected_gene': 'SLN', 'score': 9.07}, {'connected_gene': 'ENSG00000254758', 'score': 0.21}]
chr11 GH11I107682 107682801 107683200 0.31 [{'connected_gene': 'ELMOD1', 'score': 11.36}, {'connected_gene': 'SLN', 'score': 0.28}, {'connected_gene': 'ENSG00000254758', 'score': 0.28}]
chr11 GH11I107664 107664306 107665654 0.31 [{'connected_gene': 'ELMOD1', 'score': 11.21}, {'connected_gene': 'SLC35F2', 'score': 4.6}, {'connected_gene': 'ENSG00000254758', 'score': 0.34}, {'connected_gene': 'SLN', 'score': 0.23}]
chr11 GH11I107882 107882175 107882324 0.46 [{'connected_gene': 'RAB39A', 'score': 11.29}, {'connected_gene': 'SLC35F2', 'score': 11.29}, {'connected_gene': 'SLN', 'score': 10.12}, {'connected_gene': 'RPLP2P3', 'score': 0.31}, {'connected_gene': 'LOC203930', 'score': 0.11}]
chr11 GH11I107752 107752493 107753800 0.63 [{'connected_gene': 'SLC35F2', 'score': 4.74}, {'connected_gene': 'SLN', 'score': 4.7}, {'connected_gene': 'LOC203930', 'score': 0.39}, {'connected_gene': 'RPLP2P3', 'score': 0.1}]
chr11 GH11I107667 107667075 107667124 0.38 [{'connected_gene': 'SLC35F2', 'score': 4.59}, {'connected_gene': 'ENSG00000254758', 'score': 0.34}, {'connected_gene': 'SLN', 'score': 0.23}]
chr11 GH11I107731 107731995 107732144 0.4 [{'connected_gene': 'LOC203930', 'score': 0.44}, {'connected_gene': 'SLN', 'score': 0.39}]

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