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
ENST00000353317 [[67039130, 67039671], [67040538, 67040711], [67047224, 67047390], [67049329, 67049425], [67061879, 67062113], [67062451, 67062474], [67062576, 67062701], [67064611, 67064862], [67086705, 67087720]] [[67039503, 67039671], [67040538, 67040711], [67047224, 67047390], [67049329, 67049425], [67061879, 67062113], [67062451, 67062474], [67062576, 67062701], [67064611, 67064862], [67086705, 67086828]]
ENST00000315962 [[67039130, 67039671], [67040538, 67040711], [67047224, 67047390], [67049329, 67049425], [67061879, 67062113], [67062451, 67062474], [67062576, 67062701], [67064611, 67064862], [67066281, 67066569], [67086705, 67087720]] [[67039503, 67039671], [67040538, 67040711], [67047224, 67047390], [67049329, 67049425], [67061879, 67062113], [67062451, 67062474], [67062576, 67062701], [67064611, 67064862], [67066281, 67066569], [67086705, 67086828]]
ENST00000276573 [[67039277, 67039671], [67040538, 67040711], [67047224, 67047390], [67049329, 67049425], [67061879, 67062113], [67062451, 67062474], [67062576, 67062701], [67064611, 67064862], [67066281, 67066569], [67067857, 67067945], [67086705, 67086827]] [[67039503, 67039671], [67040538, 67040711], [67047224, 67047390], [67049329, 67049425], [67061879, 67062113], [67062451, 67062474], [67062576, 67062701], [67064611, 67064862], [67066281, 67066569], [67067857, 67067945], [67086705, 67086716]]
ENST00000350034 [[67039277, 67039671], [67040538, 67040711], [67047224, 67047390], [67049329, 67049425], [67086705, 67087053]] [[67039503, 67039671], [67040538, 67040711], [67047224, 67047390], [67049329, 67049425], [67086705, 67086828]]
ENST00000517647 [[67064532, 67064862], [67086705, 67087240]] None
NM_184087 [[67039277, 67039671], [67040538, 67040711], [67047224, 67047390], [67049329, 67049425], [67086705, 67087720]] [[67039503, 67039671], [67040538, 67040711], [67047224, 67047390], [67049329, 67049425], [67086705, 67086828]]
NM_184086 [[67039277, 67039671], [67040538, 67040711], [67047224, 67047390], [67049329, 67049425], [67061879, 67062113], [67062451, 67062474], [67062576, 67062701], [67064611, 67064862], [67086705, 67087720]] [[67039503, 67039671], [67040538, 67040711], [67047224, 67047390], [67049329, 67049425], [67061879, 67062113], [67062451, 67062474], [67062576, 67062701], [67064611, 67064862], [67086705, 67086828]]
NM_184085 [[67039277, 67039671], [67040538, 67040711], [67047224, 67047390], [67049329, 67049425], [67061879, 67062113], [67062451, 67062474], [67062576, 67062701], [67064611, 67064862], [67066281, 67066569], [67086705, 67087720]] [[67039503, 67039671], [67040538, 67040711], [67047224, 67047390], [67049329, 67049425], [67061879, 67062113], [67062451, 67062474], [67062576, 67062701], [67064611, 67064862], [67066281, 67066569], [67086705, 67086828]]
NM_033058 [[67039277, 67039671], [67040538, 67040711], [67047224, 67047390], [67049329, 67049425], [67061879, 67062113], [67062451, 67062474], [67062576, 67062701], [67064611, 67064862], [67066281, 67066569], [67067857, 67067945], [67086705, 67087720]] [[67039503, 67039671], [67040538, 67040711], [67047224, 67047390], [67049329, 67049425], [67061879, 67062113], [67062451, 67062474], [67062576, 67062701], [67064611, 67064862], [67066281, 67066569], [67067857, 67067945], [67086705, 67086716]]
Promoter
Chrom Start End Description
chr8 67039167 67039176 CAGE_peak_7_at_TRIM55_5end
chr8 67039205 67039215 CAGE_peak_5_at_TRIM55_5end
chr8 67039329 67039377 CAGE_peak_1_at_TRIM55_5end
chr8 67039422 67039433 CAGE_peak_4_at_TRIM55_5end
chr8 67039452 67039469 CAGE_peak_2_at_TRIM55_5end
chr8 67039474 67039487 CAGE_peak_3_at_TRIM55_5end
chr8 67064546 67064556 CAGE_peak_9_at_TRIM55_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I066041 66041801 66042815 0.51 [{'connected_gene': 'DNAJC5B', 'score': 11.63}, {'connected_gene': 'CRH', 'score': 10.88}, {'connected_gene': 'TRIM55', 'score': 10.32}, {'connected_gene': 'ENSG00000272010', 'score': 6.39}, {'connected_gene': 'LOC105375883', 'score': 0.37}, {'connected_gene': 'GC08P066013', 'score': 0.31}, {'connected_gene': 'GC08M066089', 'score': 0.22}]
chr8 GH08I066171 66171538 66173935 0.49 [{'connected_gene': 'TRIM55', 'score': 11.53}, {'connected_gene': 'RRS1', 'score': 10.15}, {'connected_gene': 'ADHFE1', 'score': 10.15}, {'connected_gene': 'RRS1-AS1', 'score': 10.15}, {'connected_gene': 'LINC00967', 'score': 6.82}, {'connected_gene': 'GC08P066170', 'score': 0.77}, {'connected_gene': 'CRH', 'score': 0.44}, {'connected_gene': 'GC08P066013', 'score': 0.1}]
chr8 GH08I066118 66118436 66131399 2.22 [{'connected_gene': 'TRIM55', 'score': 550.39}, {'connected_gene': 'CRH', 'score': 11.16}, {'connected_gene': 'PIR59286', 'score': 0.39}, {'connected_gene': 'GC08P066148', 'score': 0.39}, {'connected_gene': 'GC08P066144', 'score': 0.39}, {'connected_gene': 'GC08P066170', 'score': 0.25}, {'connected_gene': 'GC08P066013', 'score': 0.14}]
chr8 GH08I066164 66164043 66164684 0.2 [{'connected_gene': 'TRIM55', 'score': 11.26}, {'connected_gene': 'GC08P066170', 'score': 0.44}, {'connected_gene': 'PIR59286', 'score': 0.23}, {'connected_gene': 'GC08P066148', 'score': 0.23}, {'connected_gene': 'GC08P066144', 'score': 0.23}, {'connected_gene': 'GC08P066013', 'score': 0.1}]
chr8 GH08I066151 66151895 66152977 0.59 [{'connected_gene': 'CSPP1', 'score': 15.71}, {'connected_gene': 'CRH', 'score': 11.59}, {'connected_gene': 'ENSG00000250869', 'score': 11.37}, {'connected_gene': 'TRIM55', 'score': 11.35}, {'connected_gene': 'C8orf44', 'score': 10.24}, {'connected_gene': 'ARMC1', 'score': 10.0}, {'connected_gene': 'LINC00967', 'score': 5.03}, {'connected_gene': 'GC08P066170', 'score': 0.37}, {'connected_gene': 'PIR59286', 'score': 0.28}, {'connected_gene': 'GC08P066144', 'score': 0.28}, {'connected_gene': 'GC08P066148', 'score': 0.28}, {'connected_gene': 'GC08P066013', 'score': 0.12}]
chr8 GH08I066146 66146390 66147883 0.2 [{'connected_gene': 'CRH', 'score': 11.71}, {'connected_gene': 'TRIM55', 'score': 11.67}, {'connected_gene': 'C8orf46', 'score': 4.88}, {'connected_gene': 'LINC00967', 'score': 4.74}, {'connected_gene': 'GC08P066170', 'score': 0.34}, {'connected_gene': 'PIR59286', 'score': 0.29}, {'connected_gene': 'GC08P066144', 'score': 0.29}, {'connected_gene': 'GC08P066148', 'score': 0.29}, {'connected_gene': 'GC08P066013', 'score': 0.12}]
chr8 GH08I066157 66155906 66160152 0.63 [{'connected_gene': 'CRH', 'score': 12.18}, {'connected_gene': 'TRIM55', 'score': 11.44}, {'connected_gene': 'LINC00967', 'score': 5.04}, {'connected_gene': 'GC08P066170', 'score': 0.39}, {'connected_gene': 'PIR59286', 'score': 0.26}, {'connected_gene': 'GC08P066148', 'score': 0.26}, {'connected_gene': 'GC08P066144', 'score': 0.26}, {'connected_gene': 'GC08P066013', 'score': 0.11}]
chr8 GH08I066105 66105766 66105955 1.04 [{'connected_gene': 'CRH', 'score': 10.74}, {'connected_gene': 'GC08M066089', 'score': 0.77}, {'connected_gene': 'TRIM55', 'score': 0.44}, {'connected_gene': 'TRY-GTA5-1', 'score': 0.44}, {'connected_gene': 'GC08P066013', 'score': 0.16}]
chr8 GH08I066156 66155066 66155215 0.2 [{'connected_gene': 'CRH', 'score': 11.62}, {'connected_gene': 'TRIM55', 'score': 11.17}, {'connected_gene': 'GC08P066170', 'score': 0.37}, {'connected_gene': 'PIR59286', 'score': 0.26}, {'connected_gene': 'GC08P066148', 'score': 0.26}, {'connected_gene': 'GC08P066144', 'score': 0.26}, {'connected_gene': 'GC08P066013', 'score': 0.11}]
chr8 GH08I066131 66131957 66134175 1.23 [{'connected_gene': 'CRH', 'score': 11.2}, {'connected_gene': 'PIR59286', 'score': 0.37}, {'connected_gene': 'GC08P066148', 'score': 0.37}, {'connected_gene': 'GC08P066144', 'score': 0.37}, {'connected_gene': 'TRIM55', 'score': 0.34}, {'connected_gene': 'GC08P066170', 'score': 0.28}, {'connected_gene': 'GC08P066013', 'score': 0.13}]
chr8 GH08I066155 66155553 66155675 0.4 [{'connected_gene': 'CRH', 'score': 12.18}, {'connected_gene': 'TRIM55', 'score': 11.17}, {'connected_gene': 'GC08P066170', 'score': 0.39}, {'connected_gene': 'PIR59286', 'score': 0.26}, {'connected_gene': 'GC08P066148', 'score': 0.26}, {'connected_gene': 'GC08P066144', 'score': 0.26}, {'connected_gene': 'GC08P066013', 'score': 0.11}]
chr8 GH08I066103 66103059 66104284 0.43 [{'connected_gene': 'CRH', 'score': 11.08}, {'connected_gene': 'RRS1', 'score': 10.02}, {'connected_gene': 'ADHFE1', 'score': 10.02}, {'connected_gene': 'RRS1-AS1', 'score': 10.02}, {'connected_gene': 'GC08M066089', 'score': 0.77}, {'connected_gene': 'TRIM55', 'score': 0.44}, {'connected_gene': 'TRY-GTA5-1', 'score': 0.44}, {'connected_gene': 'GC08P066013', 'score': 0.16}]
chr8 GH08I066165 66165694 66169362 0.58 [{'connected_gene': 'LINC00967', 'score': 17.02}, {'connected_gene': 'TRIM55', 'score': 11.55}, {'connected_gene': 'ADHFE1', 'score': 10.15}, {'connected_gene': 'RRS1', 'score': 10.15}, {'connected_gene': 'RRS1-AS1', 'score': 10.15}, {'connected_gene': 'GC08P066170', 'score': 0.77}, {'connected_gene': 'PIR59286', 'score': 0.23}, {'connected_gene': 'GC08P066144', 'score': 0.23}, {'connected_gene': 'GC08P066148', 'score': 0.23}, {'connected_gene': 'GC08P066013', 'score': 0.1}]
chr8 GH08I066139 66139126 66139275 0.4 [{'connected_gene': 'TRY-GTA5-1', 'score': 12.3}, {'connected_gene': 'CRH', 'score': 10.93}, {'connected_gene': 'RRS1', 'score': 10.27}, {'connected_gene': 'RRS1-AS1', 'score': 10.27}, {'connected_gene': 'ADHFE1', 'score': 10.27}, {'connected_gene': 'PIR59286', 'score': 0.31}, {'connected_gene': 'GC08P066144', 'score': 0.31}, {'connected_gene': 'GC08P066148', 'score': 0.31}, {'connected_gene': 'TRIM55', 'score': 0.31}, {'connected_gene': 'GC08P066170', 'score': 0.29}, {'connected_gene': 'GC08P066013', 'score': 0.13}]
chr8 GH08I066136 66136874 66138209 0.51 [{'connected_gene': 'TRY-GTA5-1', 'score': 12.32}, {'connected_gene': 'CRH', 'score': 10.92}, {'connected_gene': 'ADHFE1', 'score': 10.27}, {'connected_gene': 'RRS1', 'score': 10.27}, {'connected_gene': 'RRS1-AS1', 'score': 10.27}, {'connected_gene': 'PIR59286', 'score': 0.34}, {'connected_gene': 'GC08P066144', 'score': 0.34}, {'connected_gene': 'GC08P066148', 'score': 0.34}, {'connected_gene': 'TRIM55', 'score': 0.34}, {'connected_gene': 'GC08P066170', 'score': 0.29}, {'connected_gene': 'GC08P066013', 'score': 0.13}]
chr8 GH08I066141 66141401 66143580 1.26 [{'connected_gene': 'TRY-GTA5-1', 'score': 12.3}, {'connected_gene': 'CRH', 'score': 10.97}, {'connected_gene': 'ADHFE1', 'score': 10.27}, {'connected_gene': 'RRS1', 'score': 10.27}, {'connected_gene': 'RRS1-AS1', 'score': 10.27}, {'connected_gene': 'LINC00967', 'score': 5.4}, {'connected_gene': 'GC08P066170', 'score': 0.31}, {'connected_gene': 'PIR59286', 'score': 0.31}, {'connected_gene': 'GC08P066144', 'score': 0.31}, {'connected_gene': 'GC08P066148', 'score': 0.31}, {'connected_gene': 'TRIM55', 'score': 0.31}, {'connected_gene': 'GC08P066013', 'score': 0.13}]
chr8 GH08I066112 66112302 66116057 1.79 [{'connected_gene': 'TRY-GTA5-2', 'score': 550.77}, {'connected_gene': 'PIR37716', 'score': 550.77}, {'connected_gene': 'PIR59286', 'score': 550.77}, {'connected_gene': 'GC08P066144', 'score': 550.77}, {'connected_gene': 'GC08P066148', 'score': 550.77}, {'connected_gene': 'TRIM55', 'score': 550.77}, {'connected_gene': 'TRY-GTA5-1', 'score': 550.77}, {'connected_gene': 'C8orf44', 'score': 21.6}, {'connected_gene': 'CSPP1', 'score': 21.31}, {'connected_gene': 'LOC100288001', 'score': 15.48}, {'connected_gene': 'MCMDC2', 'score': 9.83}, {'connected_gene': 'ADHFE1', 'score': 4.03}, {'connected_gene': 'GC08P066013', 'score': 0.15}]
chr8 GH08I066132 66131591 66131875 0.4 [{'connected_gene': 'PIR59286', 'score': 0.37}, {'connected_gene': 'GC08P066148', 'score': 0.37}, {'connected_gene': 'TRIM55', 'score': 0.37}, {'connected_gene': 'GC08P066144', 'score': 0.37}, {'connected_gene': 'GC08P066170', 'score': 0.28}, {'connected_gene': 'GC08P066013', 'score': 0.13}]