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
ENST00000418265 [[128806417, 128810189], [128813828, 128814012], [128848930, 128849031], [128849392, 128849479], [128852916, 128853038], [128853674, 128853797], [128859210, 128859328], [128864603, 128864716], [128875475, 128875518], [128875697, 128875763], [128877350, 128877402], [128877996, 128878019], [128879815, 128879879]] [[128813867, 128814012], [128848930, 128849031], [128849392, 128849479], [128852916, 128853038], [128853674, 128853797], [128859210, 128859328], [128864603, 128864716], [128875475, 128875518], [128875697, 128875763], [128877350, 128877402], [128877996, 128878019], [128879815, 128879818]]
NM_001204890 [[128806411, 128810189], [128813828, 128814012], [128848930, 128849031], [128849392, 128849479], [128852916, 128853038], [128853674, 128853797], [128859210, 128859328], [128864603, 128864716], [128875475, 128875518], [128875697, 128875763], [128877350, 128877402], [128877996, 128878019], [128879815, 128880073]] [[128813867, 128814012], [128848930, 128849031], [128849392, 128849479], [128852916, 128853038], [128853674, 128853797], [128859210, 128859328], [128864603, 128864716], [128875475, 128875518], [128875697, 128875763], [128877350, 128877402], [128877996, 128878019], [128879815, 128879818]]
Promoter
Chrom Start End Description
chr3 128879875 128879937 CAGE_peak_1_at_ISY1-RAB43_5end,CAGE_peak_1_at_ISY1_5end
chr3 128879938 128879950 CAGE_peak_2_at_ISY1-RAB43_5end,CAGE_peak_2_at_ISY1_5end
chr3 128880125 128880155 CAGE_peak_3_at_ISY1-RAB43_5end,CAGE_peak_3_at_ISY1_5end
chr3 128880162 128880179 CAGE_peak_4_at_ISY1-RAB43_5end,CAGE_peak_4_at_ISY1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I129095 129095391 129098748 0.2 [{'connected_gene': 'RAB7A', 'score': 5.76}, {'connected_gene': 'RPL32P3', 'score': 5.04}, {'connected_gene': 'PIR33900', 'score': 0.37}, {'connected_gene': 'PIR45850', 'score': 0.31}, {'connected_gene': 'RAB43', 'score': 0.31}, {'connected_gene': 'GC03M129069', 'score': 0.31}, {'connected_gene': 'ISY1-RAB43', 'score': 0.21}]
chr3 GH03I129159 129159376 129163731 2.29 [{'connected_gene': 'ISY1', 'score': 562.13}, {'connected_gene': 'ISY1-RAB43', 'score': 550.77}, {'connected_gene': 'RPL32P3', 'score': 22.43}, {'connected_gene': 'ENSG00000244932', 'score': 17.31}, {'connected_gene': 'H1FX-AS1', 'score': 12.57}, {'connected_gene': 'CNBP', 'score': 10.4}, {'connected_gene': 'H1FX', 'score': 9.88}, {'connected_gene': 'ENSG00000273437', 'score': 0.77}, {'connected_gene': 'GC03M129158', 'score': 0.44}, {'connected_gene': 'GC03P129797', 'score': 0.37}]
chr3 GH03I129116 129116131 129124027 2.68 [{'connected_gene': 'RAB43', 'score': 562.97}, {'connected_gene': 'KIAA1257', 'score': 33.4}, {'connected_gene': 'ISY1', 'score': 14.01}, {'connected_gene': 'GP9', 'score': 13.55}, {'connected_gene': 'EFCC1', 'score': 10.74}, {'connected_gene': 'MBD4', 'score': 6.86}, {'connected_gene': 'ACAD9', 'score': 5.66}, {'connected_gene': 'RPL32P3', 'score': 4.89}, {'connected_gene': 'HMCES', 'score': 4.3}, {'connected_gene': 'CNBP', 'score': 2.8}, {'connected_gene': 'H1FX', 'score': 2.69}, {'connected_gene': 'RAB7A', 'score': 1.38}, {'connected_gene': 'ENSG00000273174', 'score': 0.77}, {'connected_gene': 'PIR33900', 'score': 0.77}, {'connected_gene': 'ISY1-RAB43', 'score': 0.26}]
chr3 GH03I129086 129086755 129088692 0.86 [{'connected_gene': 'GP9', 'score': 12.57}, {'connected_gene': 'ENSG00000187695', 'score': 12.09}, {'connected_gene': 'RAB43', 'score': 11.23}, {'connected_gene': 'RPL32P3', 'score': 4.7}, {'connected_gene': 'PIR45850', 'score': 0.34}, {'connected_gene': 'GC03M129069', 'score': 0.34}, {'connected_gene': 'PIR33900', 'score': 0.31}, {'connected_gene': 'ISY1-RAB43', 'score': 0.19}]
chr3 GH03I129103 129103300 129103531 0.42 [{'connected_gene': 'H1FOO', 'score': 15.02}, {'connected_gene': 'PIR33900', 'score': 0.39}, {'connected_gene': 'RAB43', 'score': 0.37}, {'connected_gene': 'PIR45850', 'score': 0.28}, {'connected_gene': 'GC03M129069', 'score': 0.28}, {'connected_gene': 'ISY1-RAB43', 'score': 0.22}]
chr3 GH03I129105 129105589 129107587 0.43 [{'connected_gene': 'RPL32P3', 'score': 4.67}, {'connected_gene': 'PIR33900', 'score': 0.39}, {'connected_gene': 'RAB43', 'score': 0.37}, {'connected_gene': 'PIR45850', 'score': 0.28}, {'connected_gene': 'GC03M129069', 'score': 0.28}, {'connected_gene': 'ISY1-RAB43', 'score': 0.23}]
chr3 GH03I129127 129127435 129128350 0.31 [{'connected_gene': 'PIR52955', 'score': 550.77}, {'connected_gene': 'PIR40814', 'score': 550.77}, {'connected_gene': 'ISY1', 'score': 12.35}, {'connected_gene': 'GP9', 'score': 10.96}, {'connected_gene': 'ENSG00000273174', 'score': 0.77}, {'connected_gene': 'ISY1-RAB43', 'score': 0.29}]
chr3 GH03I129112 129112400 129112601 0.92 [{'connected_gene': 'PIR33900', 'score': 0.77}, {'connected_gene': 'RAB43', 'score': 0.39}, {'connected_gene': 'PIR45850', 'score': 0.25}, {'connected_gene': 'GC03M129069', 'score': 0.25}, {'connected_gene': 'ISY1-RAB43', 'score': 0.25}]
chr3 GH03I129107 129107819 129108825 0.31 [{'connected_gene': 'PIR33900', 'score': 0.44}, {'connected_gene': 'RAB43', 'score': 0.39}, {'connected_gene': 'PIR45850', 'score': 0.26}, {'connected_gene': 'GC03M129069', 'score': 0.26}, {'connected_gene': 'ISY1-RAB43', 'score': 0.23}]