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
ENST00000403437 [[10293638, 10293920], [10295198, 10295294], [10295858, 10295963], [10296147, 10296318], [10296401, 10296527], [10297565, 10297769], [10298449, 10298758], [10299646, 10299771], [10299869, 10300035], [10300119, 10300303], [10301760, 10301957], [10302084, 10302203], [10302859, 10302986], [10303706, 10304096], [10304185, 10304276], [10304362, 10304508], [10304591, 10304768], [10304859, 10305102], [10307646, 10307902], [10309357, 10309494], [10309590, 10309714], [10310006, 10310124], [10310208, 10310296], [10312413, 10312481], [10312595, 10312905], [10314093, 10314264], [10315686, 10315836], [10315926, 10316045], [10317218, 10317357], [10317508, 10317612], [10317702, 10317801], [10318432, 10318496], [10318608, 10318701], [10318788, 10318897], [10318997, 10319025], [10321961, 10322118], [10322203, 10322347], [10323334, 10323574], [10324979, 10325023], [10325246, 10325267]] [[10293770, 10293920], [10295198, 10295294], [10295858, 10295963], [10296147, 10296318], [10296401, 10296527], [10297565, 10297769], [10298449, 10298758], [10299646, 10299771], [10299869, 10300035], [10300119, 10300303], [10301760, 10301957], [10302084, 10302203], [10302859, 10302986], [10303706, 10304096], [10304185, 10304276], [10304362, 10304508], [10304591, 10304768], [10304859, 10305102], [10307646, 10307902], [10309357, 10309494], [10309590, 10309714], [10310006, 10310124], [10310208, 10310296], [10312413, 10312481], [10312595, 10312905], [10314093, 10314264], [10315686, 10315836], [10315926, 10316045], [10317218, 10317357], [10317508, 10317612], [10317702, 10317801], [10318432, 10318496], [10318608, 10318701], [10318788, 10318897], [10318997, 10319025], [10321961, 10322118], [10322203, 10322347], [10323334, 10323544]]
NM_002472 [[10293641, 10293920], [10295198, 10295294], [10295858, 10295963], [10296147, 10296318], [10296401, 10296527], [10297565, 10297769], [10298449, 10298758], [10299646, 10299771], [10299869, 10300035], [10300119, 10300303], [10301760, 10301957], [10302084, 10302203], [10302859, 10302986], [10303706, 10304096], [10304185, 10304276], [10304362, 10304508], [10304591, 10304768], [10304859, 10305102], [10307646, 10307902], [10309357, 10309494], [10309590, 10309714], [10310006, 10310124], [10310208, 10310296], [10312413, 10312481], [10312595, 10312905], [10314093, 10314264], [10315686, 10315836], [10315926, 10316045], [10317218, 10317357], [10317508, 10317612], [10317702, 10317801], [10318432, 10318496], [10318608, 10318701], [10318788, 10318897], [10318997, 10319025], [10321961, 10322118], [10322203, 10322347], [10323334, 10323574], [10324979, 10325023], [10325246, 10325267]] [[10293770, 10293920], [10295198, 10295294], [10295858, 10295963], [10296147, 10296318], [10296401, 10296527], [10297565, 10297769], [10298449, 10298758], [10299646, 10299771], [10299869, 10300035], [10300119, 10300303], [10301760, 10301957], [10302084, 10302203], [10302859, 10302986], [10303706, 10304096], [10304185, 10304276], [10304362, 10304508], [10304591, 10304768], [10304859, 10305102], [10307646, 10307902], [10309357, 10309494], [10309590, 10309714], [10310006, 10310124], [10310208, 10310296], [10312413, 10312481], [10312595, 10312905], [10314093, 10314264], [10315686, 10315836], [10315926, 10316045], [10317218, 10317357], [10317508, 10317612], [10317702, 10317801], [10318432, 10318496], [10318608, 10318701], [10318788, 10318897], [10318997, 10319025], [10321961, 10322118], [10322203, 10322347], [10323334, 10323544]]
Promoter
Chrom Start End Description
chr17 10323363 10323366 CAGE_peak_3_at_MYH8_5end
chr17 10325261 10325267 CAGE_peak_1_at_MYH8_5end
chr17 10325303 10325311 CAGE_peak_2_at_MYH8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I010338 10338104 10338253 0.2 [{'connected_gene': 'MYH13', 'score': 12.31}, {'connected_gene': 'MYH8', 'score': 10.47}, {'connected_gene': 'GC17P010345', 'score': 0.44}, {'connected_gene': 'ENSG00000264067', 'score': 0.37}, {'connected_gene': 'GC17P010287', 'score': 0.23}]
chr17 GH17I010417 10417336 10418599 0.2 [{'connected_gene': 'MYH13', 'score': 11.36}, {'connected_gene': 'MYH4', 'score': 11.08}, {'connected_gene': 'MYH8', 'score': 0.77}, {'connected_gene': 'GC17P010421', 'score': 0.77}, {'connected_gene': 'MYHAS', 'score': 0.29}, {'connected_gene': 'ENSG00000272736', 'score': 0.29}]
chr17 GH17I010420 10420041 10422133 0.7 [{'connected_gene': 'MYH8', 'score': 550.77}, {'connected_gene': 'GC17P010421', 'score': 550.77}, {'connected_gene': 'MYH13', 'score': 11.34}, {'connected_gene': 'MYH4', 'score': 11.09}, {'connected_gene': 'MYHAS', 'score': 0.28}, {'connected_gene': 'ENSG00000272736', 'score': 0.28}]
chr17 GH17I010379 10379864 10381716 0.31 [{'connected_gene': 'MYH8', 'score': 11.59}, {'connected_gene': 'MYH4', 'score': 10.88}, {'connected_gene': 'MYHAS', 'score': 0.77}, {'connected_gene': 'ENSG00000272736', 'score': 0.77}, {'connected_gene': 'MYH13', 'score': 0.44}]
chr17 GH17I010446 10446874 10448513 0.79 [{'connected_gene': 'MYH4', 'score': 11.88}, {'connected_gene': 'MYH8', 'score': 11.41}, {'connected_gene': 'GC17P010459', 'score': 0.39}, {'connected_gene': 'MYHAS', 'score': 0.21}, {'connected_gene': 'ENSG00000272736', 'score': 0.21}]
chr17 GH17I010382 10382525 10386442 0.49 [{'connected_gene': 'MYHAS', 'score': 550.77}, {'connected_gene': 'ENSG00000272736', 'score': 550.77}, {'connected_gene': 'MYH8', 'score': 11.6}, {'connected_gene': 'MYH4', 'score': 10.88}, {'connected_gene': 'GC17P010421', 'score': 0.28}]

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