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
ENST00000226193 [[9799636, 9801521], [9804305, 9804417], [9808116, 9808938]] [[9801411, 9801521], [9804305, 9804417], [9808116, 9808497]]
ENST00000570909 [[9801026, 9801521], [9804305, 9804519]] None
NM_002903 [[9801026, 9801521], [9804305, 9804417], [9808116, 9808684]] [[9801411, 9801521], [9804305, 9804417], [9808116, 9808497]]
Promoter
Chrom Start End Description
chr17 9804379 9804392 CAGE_peak_3_at_RCVRN_5end
chr17 9804491 9804501 CAGE_peak_5_at_RCVRN_5end
chr17 9804798 9804827 CAGE_peak_6_at_RCVRN_5end
chr17 9808183 9808184 CAGE_peak_4_at_RCVRN_5end
chr17 9808496 9808505 CAGE_peak_2_at_RCVRN_5end
chr17 9808565 9808623 CAGE_peak_1_at_RCVRN_5end
chr17 9808887 9808897 CAGE_peak_7_at_RCVRN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I009899 9899581 9902423 0.76 [{'connected_gene': 'MYH13', 'score': 10.25}, {'connected_gene': 'RCVRN', 'score': 8.9}, {'connected_gene': 'GC17P009878', 'score': 0.34}]
chr17 GH17I009900 9899424 9899573 0.43 [{'connected_gene': 'MYH13', 'score': 10.25}, {'connected_gene': 'RCVRN', 'score': 0.44}, {'connected_gene': 'GC17P009878', 'score': 0.34}]
chr17 GH17I009968 9968317 9970354 0.85 [{'connected_gene': 'GAS7', 'score': 11.48}, {'connected_gene': 'RCVRN', 'score': 11.3}, {'connected_gene': 'GC17P009965', 'score': 0.77}, {'connected_gene': 'GC17P010023', 'score': 0.23}]
chr17 GH17I009880 9880664 9881000 0.74 [{'connected_gene': 'RCVRN', 'score': 11.44}, {'connected_gene': 'GC17P009878', 'score': 0.77}, {'connected_gene': 'GLP2R', 'score': 0.22}]
chr17 GH17I009937 9937244 9937393 0.4 [{'connected_gene': 'RCVRN', 'score': 11.44}, {'connected_gene': 'GC17M009941', 'score': 0.44}, {'connected_gene': 'GC17P009918', 'score': 0.37}, {'connected_gene': 'GAS7', 'score': 0.07}]
chr17 GH17I010176 10176866 10179774 0.94 [{'connected_gene': 'RCVRN', 'score': 6.67}, {'connected_gene': 'GC17M010159', 'score': 0.39}, {'connected_gene': 'GAS7', 'score': 0.34}]
chr17 GH17I009928 9928457 9929491 1.02 [{'connected_gene': 'RCVRN', 'score': 11.99}, {'connected_gene': 'GC17M009941', 'score': 0.39}, {'connected_gene': 'GC17P009918', 'score': 0.39}, {'connected_gene': 'GAS7', 'score': 0.06}]
chr17 GH17I009938 9937584 9937723 0.4 [{'connected_gene': 'RCVRN', 'score': 11.44}, {'connected_gene': 'GC17M009941', 'score': 0.77}, {'connected_gene': 'GC17P009918', 'score': 0.37}, {'connected_gene': 'GAS7', 'score': 0.07}]
chr17 GH17I009931 9931564 9931713 0.58 [{'connected_gene': 'RCVRN', 'score': 11.46}, {'connected_gene': 'GC17M009941', 'score': 0.39}, {'connected_gene': 'GC17P009918', 'score': 0.39}, {'connected_gene': 'GAS7', 'score': 0.06}]
chr17 GH17I009797 9797805 9799301 0.43 [{'connected_gene': 'RCVRN', 'score': 4.53}, {'connected_gene': 'ENSG00000283025', 'score': 0.44}, {'connected_gene': 'DHRS7C', 'score': 0.44}, {'connected_gene': 'ENSG00000278944', 'score': 0.39}, {'connected_gene': 'ENSG00000282882', 'score': 0.29}]
chr17 GH17I009905 9905561 9905620 0.5 [{'connected_gene': 'RCVRN', 'score': 558.21}, {'connected_gene': 'PIR50616', 'score': 550.77}, {'connected_gene': 'GC17P009878', 'score': 0.31}]
chr17 GH17I009893 9893228 9895054 0.7 [{'connected_gene': 'RCVRN', 'score': 6.85}, {'connected_gene': 'GC17P009878', 'score': 0.37}]
chr17 GH17I009890 9890204 9890393 0.56 [{'connected_gene': 'DHRS7C', 'score': 10.21}, {'connected_gene': 'GC17P009878', 'score': 0.39}, {'connected_gene': 'RCVRN', 'score': 0.37}, {'connected_gene': 'GLP2R', 'score': 0.2}]
chr17 GH17I009841 9841316 9843453 1.08 [{'connected_gene': 'GC17M009839', 'score': 550.77}, {'connected_gene': 'RCVRN', 'score': 10.79}, {'connected_gene': 'GC17P009848', 'score': 0.44}, {'connected_gene': 'GLP2R', 'score': 0.34}]
chr17 GH17I009918 9918662 9919083 0.58 [{'connected_gene': 'GC17P009918', 'score': 550.77}, {'connected_gene': 'RCVRN', 'score': 16.45}, {'connected_gene': 'MYH13', 'score': 2.56}, {'connected_gene': 'GC17M009941', 'score': 0.34}, {'connected_gene': 'GAS7', 'score': 0.06}]
chr17 GH17I009911 9911128 9913977 0.2 [{'connected_gene': 'PIR60531', 'score': 550.77}, {'connected_gene': 'RCVRN', 'score': 25.91}, {'connected_gene': 'GC17P009918', 'score': 0.44}, {'connected_gene': 'GAS7', 'score': 0.06}]
chr17 GH17I009942 9942840 9944043 0.2 [{'connected_gene': 'GC17M009941', 'score': 550.77}, {'connected_gene': 'RCVRN', 'score': 11.71}, {'connected_gene': 'GC17P009965', 'score': 0.34}, {'connected_gene': 'GAS7', 'score': 0.07}]
chr17 GH17I009906 9905261 9905320 0.5 [{'connected_gene': 'PIR50616', 'score': 550.77}, {'connected_gene': 'RCVRN', 'score': 550.77}, {'connected_gene': 'GC17P009878', 'score': 0.31}]
chr17 GH17I009907 9907729 9909094 0.69 [{'connected_gene': 'PIR50616', 'score': 550.77}, {'connected_gene': 'RCVRN', 'score': 11.85}, {'connected_gene': 'PIR60531', 'score': 0.77}]