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
ENST00000293845 [[8633251, 8633525], [8638413, 8638572], [8638707, 8638929], [8644791, 8644989], [8646943, 8647048], [8647396, 8647502], [8647844, 8648154]] [[8633447, 8633525], [8638413, 8638572], [8638707, 8638929], [8644791, 8644989], [8646943, 8647048], [8647396, 8647502], [8647844, 8647927]]
ENST00000539522 [[8633267, 8633525], [8638413, 8638572], [8644791, 8644989], [8646943, 8647048], [8647396, 8647502], [8647844, 8648105]] [[8633447, 8633525], [8638413, 8638572], [8644791, 8644989], [8646943, 8647048], [8647396, 8647502], [8647844, 8647927]]
ENST00000581598 [[8647891, 8648038], [8648146, 8648537]] [[8647891, 8647927]]
NM_144681 [[8633245, 8633525], [8638413, 8638572], [8638707, 8638929], [8644791, 8644989], [8646943, 8647048], [8647396, 8647502], [8647844, 8648154]] [[8633447, 8633525], [8638413, 8638572], [8638707, 8638929], [8644791, 8644989], [8646943, 8647048], [8647396, 8647502], [8647844, 8647927]]
NM_001158261 [[8633245, 8633525], [8638413, 8638572], [8644791, 8644989], [8646943, 8647048], [8647396, 8647502], [8647844, 8648154]] [[8633447, 8633525], [8638413, 8638572], [8644791, 8644989], [8646943, 8647048], [8647396, 8647502], [8647844, 8647927]]
Promoter
Chrom Start End Description
chr17 8648114 8648159 CAGE_peak_1_at_CCDC42_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I008726 8726583 8727713 0.2 [{'connected_gene': 'MYH10', 'score': 11.79}, {'connected_gene': 'SPDYE4', 'score': 11.14}, {'connected_gene': 'CCDC42', 'score': 10.78}, {'connected_gene': 'BORCS6', 'score': 4.96}, {'connected_gene': 'PIR61588', 'score': 0.39}, {'connected_gene': 'LOC105371529', 'score': 0.37}]
chr17 GH17I008578 8578873 8579246 0.31 [{'connected_gene': 'MYH10', 'score': 11.42}, {'connected_gene': 'CCDC42', 'score': 11.05}, {'connected_gene': 'RNF222', 'score': 10.01}, {'connected_gene': 'SPDYE4', 'score': 9.91}, {'connected_gene': 'GC17P008563', 'score': 0.37}]
chr17 GH17I008600 8600443 8600977 0.2 [{'connected_gene': 'MYH10', 'score': 12.1}, {'connected_gene': 'CCDC42', 'score': 10.48}, {'connected_gene': 'SPDYE4', 'score': 10.44}, {'connected_gene': 'RNF222', 'score': 10.04}, {'connected_gene': 'GC17P008563', 'score': 0.28}]
chr17 GH17I008599 8599750 8600295 0.31 [{'connected_gene': 'MYH10', 'score': 11.81}, {'connected_gene': 'CCDC42', 'score': 10.49}, {'connected_gene': 'SPDYE4', 'score': 10.44}, {'connected_gene': 'RNF222', 'score': 9.74}, {'connected_gene': 'GC17P008563', 'score': 0.28}]
chr17 GH17I008695 8695883 8699486 1.37 [{'connected_gene': 'MYH10', 'score': 14.8}, {'connected_gene': 'CCDC42', 'score': 11.36}, {'connected_gene': 'SPDYE4', 'score': 10.7}, {'connected_gene': 'LOC105371526', 'score': 0.37}, {'connected_gene': 'LOC105371525', 'score': 0.31}]
chr17 GH17I008580 8580455 8582240 0.76 [{'connected_gene': 'MYH10', 'score': 16.07}, {'connected_gene': 'CCDC42', 'score': 10.73}, {'connected_gene': 'SPDYE4', 'score': 10.72}, {'connected_gene': 'GC17P008563', 'score': 0.34}]
chr17 GH17I008574 8574754 8575301 0.43 [{'connected_gene': 'MYH10', 'score': 11.88}, {'connected_gene': 'CCDC42', 'score': 11.76}, {'connected_gene': 'RNU7-43P', 'score': 11.01}, {'connected_gene': 'SPDYE4', 'score': 10.18}, {'connected_gene': 'NDEL1', 'score': 4.45}, {'connected_gene': 'GC17P008563', 'score': 0.39}]
chr17 GH17I008573 8573175 8573807 0.31 [{'connected_gene': 'MYH10', 'score': 11.88}, {'connected_gene': 'CCDC42', 'score': 11.76}, {'connected_gene': 'RNU7-43P', 'score': 11.01}, {'connected_gene': 'SPDYE4', 'score': 10.18}, {'connected_gene': 'GC17P008563', 'score': 0.39}]
chr17 GH17I008570 8570727 8571268 0.2 [{'connected_gene': 'MYH10', 'score': 11.87}, {'connected_gene': 'CCDC42', 'score': 11.76}, {'connected_gene': 'RNU7-43P', 'score': 11.02}, {'connected_gene': 'SPDYE4', 'score': 10.18}, {'connected_gene': 'GC17P008563', 'score': 0.44}]
chr17 GH17I008738 8738703 8739456 0.2 [{'connected_gene': 'SPDYE4', 'score': 11.03}, {'connected_gene': 'MYH10', 'score': 10.95}, {'connected_gene': 'CCDC42', 'score': 0.44}, {'connected_gene': 'LOC105371529', 'score': 0.44}, {'connected_gene': 'PIR61588', 'score': 0.34}]
chr17 GH17I008706 8706874 8709464 1.04 [{'connected_gene': 'SPDYE4', 'score': 10.51}, {'connected_gene': 'CCDC42', 'score': 10.02}, {'connected_gene': 'LOC105371526', 'score': 0.44}, {'connected_gene': 'LOC105371525', 'score': 0.28}]
chr17 GH17I008758 8758464 8758523 0.61 [{'connected_gene': 'SPDYE4', 'score': 550.77}, {'connected_gene': 'CCDC42', 'score': 0.39}]
chr17 GH17I008782 8782006 8782802 0.2 [{'connected_gene': 'MFSD6L', 'score': 12.5}, {'connected_gene': 'CCDC42', 'score': 11.81}, {'connected_gene': 'SPDYE4', 'score': 11.5}, {'connected_gene': 'RNF222', 'score': 9.69}, {'connected_gene': 'LOC105371530', 'score': 0.39}, {'connected_gene': 'GC17P008796', 'score': 0.39}]
chr17 GH17I008785 8785622 8786276 0.84 [{'connected_gene': 'MFSD6L', 'score': 12.23}, {'connected_gene': 'CCDC42', 'score': 11.88}, {'connected_gene': 'SPDYE4', 'score': 11.54}, {'connected_gene': 'GC17P008796', 'score': 0.39}, {'connected_gene': 'LOC105371530', 'score': 0.37}]
chr17 GH17I008791 8791463 8792534 0.65 [{'connected_gene': 'MFSD6L', 'score': 16.9}, {'connected_gene': 'CCDC42', 'score': 11.34}, {'connected_gene': 'SPDYE4', 'score': 11.11}, {'connected_gene': 'GC17P008796', 'score': 0.77}, {'connected_gene': 'LOC105371530', 'score': 0.34}]
chr17 GH17I008699 8699996 8701638 0.38 [{'connected_gene': 'CCDC42', 'score': 5.64}, {'connected_gene': 'BORCS6', 'score': 5.0}, {'connected_gene': 'LOC105371526', 'score': 0.39}, {'connected_gene': 'LOC105371525', 'score': 0.29}]
chr17 GH17I008723 8723608 8725769 0.49 [{'connected_gene': 'CCDC42', 'score': 24.34}, {'connected_gene': 'MYH10', 'score': 12.15}, {'connected_gene': 'SPDYE4', 'score': 10.9}, {'connected_gene': 'RNF222', 'score': 10.51}, {'connected_gene': 'BORCS6', 'score': 5.85}, {'connected_gene': 'PIR61588', 'score': 0.44}, {'connected_gene': 'LOC105371529', 'score': 0.34}]
chr17 GH17I008721 8721419 8722259 0.31 [{'connected_gene': 'CCDC42', 'score': 11.96}, {'connected_gene': 'MYH10', 'score': 10.97}, {'connected_gene': 'SPDYE4', 'score': 10.55}, {'connected_gene': 'RNF222', 'score': 10.08}, {'connected_gene': 'PIR61588', 'score': 0.77}, {'connected_gene': 'LOC105371529', 'score': 0.34}]
chr17 GH17I008719 8719918 8720871 0.38 [{'connected_gene': 'CCDC42', 'score': 21.48}, {'connected_gene': 'MYH10', 'score': 10.98}, {'connected_gene': 'SPDYE4', 'score': 10.55}, {'connected_gene': 'RNF222', 'score': 10.08}, {'connected_gene': 'PIR61588', 'score': 0.77}, {'connected_gene': 'LOC105371529', 'score': 0.34}]
chr17 GH17I008577 8577468 8578318 0.38 [{'connected_gene': 'CCDC42', 'score': 12.12}, {'connected_gene': 'MYH10', 'score': 11.56}, {'connected_gene': 'SPDYE4', 'score': 10.44}, {'connected_gene': 'RNF222', 'score': 10.01}, {'connected_gene': 'GC17P008563', 'score': 0.37}]
chr17 GH17I008567 8567834 8569450 0.2 [{'connected_gene': 'CCDC42', 'score': 11.97}, {'connected_gene': 'MYH10', 'score': 11.46}, {'connected_gene': 'SPDYE4', 'score': 10.15}, {'connected_gene': 'RNF222', 'score': 9.99}, {'connected_gene': 'GC17P008563', 'score': 0.44}]
chr17 GH17I008895 8895509 8897162 0.46 [{'connected_gene': 'CCDC42', 'score': 11.67}, {'connected_gene': 'ENSG00000271851', 'score': 11.06}, {'connected_gene': 'SPDYE4', 'score': 10.38}, {'connected_gene': 'RANGRF', 'score': 9.91}, {'connected_gene': 'PIK3R5', 'score': 7.64}, {'connected_gene': 'GC17M008877', 'score': 0.44}]
chr17 GH17I008744 8744668 8746522 2.2 [{'connected_gene': 'CCDC42', 'score': 584.24}, {'connected_gene': 'LOC105371529', 'score': 550.77}, {'connected_gene': 'SPDYE4', 'score': 18.79}, {'connected_gene': 'ODF4', 'score': 15.5}, {'connected_gene': 'MFSD6L', 'score': 10.33}]
chr17 GH17I008740 8740201 8741055 0.72 [{'connected_gene': 'CCDC42', 'score': 12.79}, {'connected_gene': 'LOC105371529', 'score': 0.77}, {'connected_gene': 'PIR61588', 'score': 0.34}]
chr17 GH17I008696 8694260 8694618 0.2 [{'connected_gene': 'CCDC42', 'score': 4.86}, {'connected_gene': 'LOC105371525', 'score': 0.34}, {'connected_gene': 'LOC105371526', 'score': 0.34}]
chr17 GH17I008769 8769202 8769376 0.24 [{'connected_gene': 'LOC105371530', 'score': 550.77}, {'connected_gene': 'CCDC42', 'score': 20.86}, {'connected_gene': 'RNF222', 'score': 10.28}, {'connected_gene': 'SPDYE4', 'score': 9.16}, {'connected_gene': 'ODF4', 'score': 8.77}, {'connected_gene': 'MFSD6L', 'score': 3.29}, {'connected_gene': 'GC17P008796', 'score': 0.31}]
chr17 GH17I008739 8739903 8740052 0.2 [{'connected_gene': 'LOC105371529', 'score': 0.77}, {'connected_gene': 'CCDC42', 'score': 0.44}, {'connected_gene': 'PIR61588', 'score': 0.34}]
chr17 GH17I008670 8670185 8670924 0.4 [{'connected_gene': 'LOC105371525', 'score': 550.77}, {'connected_gene': 'MYH10', 'score': 11.51}, {'connected_gene': 'CCDC42', 'score': 11.15}, {'connected_gene': 'SPDYE4', 'score': 9.69}]
chr17 GH17I008668 8668343 8669980 0.79 [{'connected_gene': 'LOC105371525', 'score': 550.77}, {'connected_gene': 'MYH10', 'score': 11.47}, {'connected_gene': 'CCDC42', 'score': 11.14}, {'connected_gene': 'RNU7-43P', 'score': 10.99}, {'connected_gene': 'SPDYE4', 'score': 10.31}]
chr17 GH17I008364 8364763 8367189 0.93 [{'connected_gene': 'ENSG00000265749', 'score': 571.06}, {'connected_gene': 'ODF4', 'score': 57.41}, {'connected_gene': 'CCDC42', 'score': 53.56}, {'connected_gene': 'SPDYE4', 'score': 46.52}, {'connected_gene': 'ENSG00000212206', 'score': 11.33}, {'connected_gene': 'ENSG00000226871', 'score': 11.31}, {'connected_gene': 'RNF222', 'score': 10.57}, {'connected_gene': 'NDEL1', 'score': 9.8}, {'connected_gene': 'MFSD6L', 'score': 8.88}, {'connected_gene': 'CNTROB', 'score': 2.77}, {'connected_gene': 'PIR59981', 'score': 0.39}]
chr17 GH17I008548 8547909 8548368 0.2 [{'connected_gene': 'GC17M008546', 'score': 550.77}, {'connected_gene': 'RNU7-43P', 'score': 11.94}, {'connected_gene': 'MYH10', 'score': 11.84}, {'connected_gene': 'CCDC42', 'score': 11.18}, {'connected_gene': 'NDEL1', 'score': 10.33}, {'connected_gene': 'SPDYE4', 'score': 10.05}, {'connected_gene': 'RNF222', 'score': 10.04}, {'connected_gene': 'PPIAP52', 'score': 0.39}]