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
ENST00000376971 [[23583046, 23584371], [23586246, 23586513]] [[23584146, 23584371], [23586246, 23586501]]
NM_001008693 [[23583046, 23584371], [23586246, 23586610]] [[23584146, 23584371], [23586246, 23586501]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I023404 23404304 23404513 0.62 [{'connected_gene': 'NXT1', 'score': 10.88}, {'connected_gene': 'ENSG00000234832', 'score': 10.88}, {'connected_gene': 'CST9', 'score': 9.74}, {'connected_gene': 'NAPB', 'score': 0.37}, {'connected_gene': 'RNA5SP479', 'score': 0.34}, {'connected_gene': 'GC20M023381', 'score': 0.34}]
chr20 GH20I023658 23658363 23662216 1.66 [{'connected_gene': 'NXT1', 'score': 22.53}, {'connected_gene': 'CST9', 'score': 12.52}, {'connected_gene': 'CSTL1', 'score': 11.17}, {'connected_gene': 'CST3', 'score': 6.77}, {'connected_gene': 'ENSG00000225056', 'score': 0.77}, {'connected_gene': 'GC20M023600', 'score': 0.44}, {'connected_gene': 'LOC105372573', 'score': 0.44}]
chr20 GH20I023401 23401019 23401616 0.31 [{'connected_gene': 'NAPB', 'score': 24.03}, {'connected_gene': 'ENSG00000234832', 'score': 10.89}, {'connected_gene': 'NXT1', 'score': 10.88}, {'connected_gene': 'CST9', 'score': 9.74}, {'connected_gene': 'RNA5SP479', 'score': 0.34}, {'connected_gene': 'GC20M023381', 'score': 0.34}]
chr20 GH20I023399 23399374 23400669 0.46 [{'connected_gene': 'NAPB', 'score': 17.65}, {'connected_gene': 'NXT1', 'score': 10.89}, {'connected_gene': 'ENSG00000234832', 'score': 10.89}, {'connected_gene': 'CST9', 'score': 9.74}, {'connected_gene': 'RNA5SP479', 'score': 0.37}, {'connected_gene': 'GC20M023381', 'score': 0.37}]
chr20 GH20I023407 23407713 23409394 0.63 [{'connected_gene': 'NAPB', 'score': 17.72}, {'connected_gene': 'CSTL1', 'score': 17.65}, {'connected_gene': 'NXT1', 'score': 10.95}, {'connected_gene': 'ENSG00000234832', 'score': 10.95}, {'connected_gene': 'CST9', 'score': 9.74}, {'connected_gene': 'RNA5SP479', 'score': 0.31}, {'connected_gene': 'GC20M023381', 'score': 0.31}]
chr20 GH20I023628 23628453 23630726 1.34 [{'connected_gene': 'CST3', 'score': 13.33}, {'connected_gene': 'CST9', 'score': 11.13}, {'connected_gene': 'GZF1', 'score': 4.99}, {'connected_gene': 'ENSG00000270001', 'score': 0.77}, {'connected_gene': 'GC20M023600', 'score': 0.28}]
chr20 GH20I023626 23625620 23626937 0.56 [{'connected_gene': 'CST3', 'score': 16.28}, {'connected_gene': 'ENSG00000270001', 'score': 0.44}, {'connected_gene': 'CST9', 'score': 0.34}, {'connected_gene': 'GC20M023600', 'score': 0.26}]
chr20 GH20I023622 23622038 23624658 1.03 [{'connected_gene': 'CST3', 'score': 16.62}, {'connected_gene': 'ENSG00000270001', 'score': 0.44}, {'connected_gene': 'CST9', 'score': 0.37}, {'connected_gene': 'GC20M023600', 'score': 0.25}]
chr20 GH20I023602 23602218 23602805 0.51 [{'connected_gene': 'CST3', 'score': 23.47}, {'connected_gene': 'CSTL1', 'score': 11.13}, {'connected_gene': 'NAPB', 'score': 10.41}, {'connected_gene': 'CST9', 'score': 0.77}, {'connected_gene': 'CST9LP2', 'score': 0.37}, {'connected_gene': 'GC20M023600', 'score': 0.2}]
chr20 GH20I023692 23692603 23693896 0.66 [{'connected_gene': 'CST9', 'score': 10.03}, {'connected_gene': 'CST1', 'score': 9.24}, {'connected_gene': 'CST3', 'score': 7.32}, {'connected_gene': 'CST4', 'score': 0.77}, {'connected_gene': 'CST2P1', 'score': 0.37}]
chr20 GH20I023533 23533202 23533788 0.43 [{'connected_gene': 'CST9', 'score': 10.44}, {'connected_gene': 'CSTL1', 'score': 10.33}, {'connected_gene': 'NAPB', 'score': 7.71}, {'connected_gene': 'CST13P', 'score': 0.39}, {'connected_gene': 'CST9LP1', 'score': 0.37}]
chr20 GH20I023605 23605907 23605966 0.5 [{'connected_gene': 'CST9', 'score': 550.77}, {'connected_gene': 'CST9LP2', 'score': 0.34}, {'connected_gene': 'GC20M023600', 'score': 0.21}]
chr20 GH20I023704 23704377 23704420 0.22 [{'connected_gene': 'CST9', 'score': 2.02}, {'connected_gene': 'CST2P1', 'score': 0.44}, {'connected_gene': 'CST4', 'score': 0.37}]
chr20 GH20I023606 23606664 23606813 0.8 [{'connected_gene': 'CST9', 'score': 550.77}, {'connected_gene': 'ENSG00000270001', 'score': 0.31}, {'connected_gene': 'GC20M023600', 'score': 0.21}]
chr20 GH20I023291 23291135 23291373 0.53 [{'connected_gene': 'CST9', 'score': 8.36}, {'connected_gene': 'ENSG00000277901', 'score': 0.29}, {'connected_gene': 'ENSG00000230387', 'score': 0.15}]
chr20 GH20I023585 23585791 23586519 0.83 [{'connected_gene': 'CST9LP1', 'score': 11.28}, {'connected_gene': 'CSTL1', 'score': 11.23}, {'connected_gene': 'NAPB', 'score': 7.07}, {'connected_gene': 'CST9LP2', 'score': 0.77}, {'connected_gene': 'CST9', 'score': 0.37}]
chr20 GH20I023416 23416104 23416213 0.52 [{'connected_gene': 'CSTL1', 'score': 11.16}, {'connected_gene': 'ENSG00000234832', 'score': 10.9}, {'connected_gene': 'NXT1', 'score': 10.9}, {'connected_gene': 'CST9', 'score': 9.73}, {'connected_gene': 'NAPB', 'score': 0.44}, {'connected_gene': 'RNA5SP479', 'score': 0.28}, {'connected_gene': 'GC20M023381', 'score': 0.28}]
chr20 GH20I023583 23583664 23583813 0.2 [{'connected_gene': 'CST9LP2', 'score': 550.77}, {'connected_gene': 'CST9', 'score': 11.71}, {'connected_gene': 'CST9LP1', 'score': 11.3}, {'connected_gene': 'CSTL1', 'score': 11.23}]
chr20 GH20I023655 23655401 23656800 0.79 [{'connected_gene': 'ENSG00000225056', 'score': 550.77}, {'connected_gene': 'CST9', 'score': 10.79}, {'connected_gene': 'CSTL1', 'score': 10.72}, {'connected_gene': 'NAPB', 'score': 10.53}, {'connected_gene': 'CST3', 'score': 9.07}, {'connected_gene': 'GC20M023600', 'score': 0.39}]
chr20 GH20I023625 23625324 23625473 0.38 [{'connected_gene': 'ENSG00000270001', 'score': 0.44}, {'connected_gene': 'CST9', 'score': 0.37}, {'connected_gene': 'GC20M023600', 'score': 0.26}]