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
ENST00000328313 [[77704680, 77705154], [77707305, 77707451], [77708841, 77709468], [77710839, 77711059], [77711714, 77711861], [77715592, 77716021]] [[77704901, 77705154], [77707305, 77707451], [77708841, 77709468], [77710839, 77711059], [77711714, 77711845]]
ENST00000576512 [[77709339, 77709468], [77710839, 77711059], [77711714, 77713367]] [[77709339, 77709468], [77710839, 77711059], [77711714, 77711845]]
NM_178543 [[77704864, 77705154], [77707305, 77707451], [77708841, 77709468], [77710839, 77711059], [77711714, 77711861], [77715592, 77716021]] [[77704901, 77705154], [77707305, 77707451], [77708841, 77709468], [77710839, 77711059], [77711714, 77711845]]
Promoter
Chrom Start End Description
chr17 77704696 77704710 CAGE_peak_2_at_ENPP7_5end
chr17 77704749 77704760 CAGE_peak_3_at_ENPP7_5end
chr17 77704836 77704841 CAGE_peak_5_at_ENPP7_5end
chr17 77704870 77704893 CAGE_peak_1_at_ENPP7_5end
chr17 77704898 77704905 CAGE_peak_4_at_ENPP7_5end
chr17 77704921 77704929 CAGE_peak_6_at_ENPP7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I079745 79745859 79748878 1.31 [{'connected_gene': 'CBX2', 'score': 12.35}, {'connected_gene': 'CBX4', 'score': 11.24}, {'connected_gene': 'ENPP7', 'score': 0.37}]
chr17 GH17I079757 79757042 79757408 0.39 [{'connected_gene': 'CBX8', 'score': 13.4}, {'connected_gene': 'CBX2', 'score': 2.06}, {'connected_gene': 'ENPP7', 'score': 0.31}]
chr17 GH17I079746 79745702 79745851 0.76 [{'connected_gene': 'ENPP7', 'score': 0.39}, {'connected_gene': 'CBX2', 'score': 0.29}]
chr17 GH17I079739 79739068 79745031 1.38 [{'connected_gene': 'ENPP7', 'score': 8.33}, {'connected_gene': 'CBX2', 'score': 0.28}]
chr17 GH17I079730 79730134 79734006 1.8 [{'connected_gene': 'ENPP7', 'score': 565.79}, {'connected_gene': 'GC17P079727', 'score': 0.77}, {'connected_gene': 'CBX2', 'score': 0.25}]
chr17 GH17I079737 79737294 79738479 0.57 [{'connected_gene': 'ENPP7', 'score': 0.44}, {'connected_gene': 'CBX2', 'score': 0.28}]
chr17 GH17I079728 79728149 79729377 1.27 [{'connected_gene': 'GC17P079727', 'score': 550.77}, {'connected_gene': 'ENPP7', 'score': 9.45}]

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