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
ENST00000482155 [[52870234, 52870651], [52874515, 52874623]] [[52870639, 52870651], [52874515, 52874623]]
ENST00000355083 [[52870771, 52874626], [52876826, 52876976], [52877736, 52877814], [52878844, 52878957], [52883807, 52883929], [52886618, 52886714], [52889411, 52889460], [52931306, 52931612]] [[52874509, 52874626], [52876826, 52876976], [52877736, 52877814], [52878844, 52878957], [52883807, 52883929], [52886618, 52886714], [52889411, 52889460], [52931306, 52931466]]
ENST00000477591 [[52874233, 52874626], [52875705, 52875800]] None
ENST00000464769 [[52874309, 52874626], [52876826, 52876976], [52877110, 52877185]] None
ENST00000485356 [[52881272, 52881567], [52883807, 52883929], [52886618, 52886715]] [[52881517, 52881567], [52883807, 52883929], [52886618, 52886715]]
ENST00000467979 [[52886636, 52886714], [52889411, 52889460], [52929893, 52929971], [52931306, 52931559]] [[52929933, 52929971], [52931306, 52931466]]
Promoter
Chrom Start End Description
chr3 52875783 52875812 CAGE_peak_7_at_TMEM110_5end
chr3 52877178 52877189 CAGE_peak_4_at_TMEM110_5end
chr3 52931541 52931550 CAGE_peak_2_at_TMEM110_5end
chr3 52931557 52931623 CAGE_peak_1_at_TMEM110-MUSTN1_5end,CAGE_peak_1_at_TMEM110_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I053191 53191446 53192556 0.31 [{'connected_gene': 'RFT1', 'score': 12.1}, {'connected_gene': 'PRKCD', 'score': 11.83}, {'connected_gene': 'SNORD38C', 'score': 9.88}, {'connected_gene': 'STIMATE', 'score': 9.81}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 9.81}, {'connected_gene': 'ENSG00000243696', 'score': 9.68}, {'connected_gene': 'MUSTN1', 'score': 9.68}, {'connected_gene': 'TKT', 'score': 0.21}]
chr3 GH03I053071 53071868 53074132 1.33 [{'connected_gene': 'RFT1', 'score': 44.58}, {'connected_gene': 'ITIH4', 'score': 22.54}, {'connected_gene': 'STIMATE', 'score': 12.17}, {'connected_gene': 'ITIH1', 'score': 11.22}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 10.41}, {'connected_gene': 'ENSG00000243696', 'score': 10.39}, {'connected_gene': 'MUSTN1', 'score': 10.39}, {'connected_gene': 'SFMBT1', 'score': 2.81}, {'connected_gene': 'DCP1A', 'score': 1.94}, {'connected_gene': 'GC03M053066', 'score': 0.77}, {'connected_gene': 'SERBP1P3', 'score': 0.44}, {'connected_gene': 'ENSG00000272305', 'score': 0.31}]
chr3 GH03I053090 53090028 53095581 0.81 [{'connected_gene': 'RFT1', 'score': 55.27}, {'connected_gene': 'ITIH4', 'score': 26.05}, {'connected_gene': 'STIMATE', 'score': 9.82}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 9.82}, {'connected_gene': 'ENSG00000243696', 'score': 9.81}, {'connected_gene': 'MUSTN1', 'score': 9.81}, {'connected_gene': 'ENSG00000272305', 'score': 0.44}, {'connected_gene': 'GC03M053066', 'score': 0.37}]
chr3 GH03I053264 53264546 53265753 0.43 [{'connected_gene': 'TKT', 'score': 5.84}, {'connected_gene': 'STIMATE', 'score': 4.46}, {'connected_gene': 'PIR47365', 'score': 0.37}, {'connected_gene': 'GC03M053284', 'score': 0.37}]
chr3 GH03I052769 52769836 52771938 2.02 [{'connected_gene': 'NEK4', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 60.08}, {'connected_gene': 'RRP9', 'score': 21.46}, {'connected_gene': 'RFT1', 'score': 13.2}, {'connected_gene': 'ITIH3', 'score': 12.78}, {'connected_gene': 'ITIH4-AS1', 'score': 11.29}, {'connected_gene': 'ITIH4', 'score': 11.27}, {'connected_gene': 'ENSG00000243696', 'score': 11.27}, {'connected_gene': 'SNORD69', 'score': 10.51}, {'connected_gene': 'GNL3', 'score': 10.5}, {'connected_gene': 'MUSTN1', 'score': 10.49}, {'connected_gene': 'ENSG00000222345', 'score': 10.45}, {'connected_gene': 'SNORD19B', 'score': 10.44}, {'connected_gene': 'SNORD19', 'score': 10.44}, {'connected_gene': 'ENSG00000252787', 'score': 10.44}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 10.41}, {'connected_gene': 'STIMATE', 'score': 10.41}, {'connected_gene': 'LOC101059924', 'score': 0.37}]
chr3 GH03I053140 53140402 53141800 1.43 [{'connected_gene': 'GLT8D1', 'score': 24.09}, {'connected_gene': 'RFT1', 'score': 22.26}, {'connected_gene': 'NISCH', 'score': 19.52}, {'connected_gene': 'PRKCD', 'score': 14.47}, {'connected_gene': 'ACTR8', 'score': 11.38}, {'connected_gene': 'NEK4', 'score': 11.24}, {'connected_gene': 'STIMATE', 'score': 8.07}, {'connected_gene': 'ITIH4', 'score': 7.34}, {'connected_gene': 'DCP1A', 'score': 6.17}, {'connected_gene': 'ITIH3', 'score': 4.87}, {'connected_gene': 'PBRM1', 'score': 1.98}, {'connected_gene': 'TKT', 'score': 1.23}, {'connected_gene': 'PIR59540', 'score': 0.77}]
chr3 GH03I053345 53345960 53348690 2.35 [{'connected_gene': 'DCP1A', 'score': 561.19}, {'connected_gene': 'NISCH', 'score': 37.22}, {'connected_gene': 'PBRM1', 'score': 23.95}, {'connected_gene': 'ENSG00000271976', 'score': 20.08}, {'connected_gene': 'RFT1', 'score': 13.15}, {'connected_gene': 'PHF7', 'score': 11.26}, {'connected_gene': 'ENSG00000212608', 'score': 11.08}, {'connected_gene': 'PRKCD', 'score': 10.97}, {'connected_gene': 'NEK4', 'score': 10.4}, {'connected_gene': 'ACTR8', 'score': 10.35}, {'connected_gene': 'GNL3', 'score': 10.14}, {'connected_gene': 'NT5DC2', 'score': 9.91}, {'connected_gene': 'TKT', 'score': 5.96}, {'connected_gene': 'STIMATE', 'score': 2.31}, {'connected_gene': 'SNORD38C', 'score': 0.39}, {'connected_gene': 'CACNA1D', 'score': 0.37}, {'connected_gene': 'GC03P053298', 'score': 0.25}]
chr3 GH03I053190 53190428 53190988 0.43 [{'connected_gene': 'PRKCD', 'score': 11.85}, {'connected_gene': 'RFT1', 'score': 11.78}, {'connected_gene': 'STIMATE', 'score': 9.01}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 9.01}, {'connected_gene': 'MUSTN1', 'score': 9.0}, {'connected_gene': 'ENSG00000243696', 'score': 9.0}, {'connected_gene': 'TKT', 'score': 0.2}]
chr3 GH03I053187 53187669 53190095 0.66 [{'connected_gene': 'PRKCD', 'score': 19.27}, {'connected_gene': 'RFT1', 'score': 11.79}, {'connected_gene': 'STIMATE', 'score': 9.01}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 9.01}, {'connected_gene': 'ENSG00000243696', 'score': 9.0}, {'connected_gene': 'MUSTN1', 'score': 9.0}, {'connected_gene': 'TKT', 'score': 0.2}]
chr3 GH03I053102 53102581 53103137 1.14 [{'connected_gene': 'PRKCD', 'score': 16.77}, {'connected_gene': 'STIMATE', 'score': 12.59}, {'connected_gene': 'RFT1', 'score': 11.9}, {'connected_gene': 'ENSG00000243696', 'score': 10.61}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 9.9}, {'connected_gene': 'MUSTN1', 'score': 9.89}, {'connected_gene': 'DCP1A', 'score': 4.25}, {'connected_gene': 'PBRM1', 'score': 2.72}, {'connected_gene': 'ENSG00000272305', 'score': 0.77}]
chr3 GH03I053165 53165269 53172654 1.36 [{'connected_gene': 'PRKCD', 'score': 21.13}, {'connected_gene': 'STIMATE', 'score': 5.73}, {'connected_gene': 'GLT8D1', 'score': 4.48}, {'connected_gene': 'TKT', 'score': 4.29}, {'connected_gene': 'GNL3', 'score': 4.13}, {'connected_gene': 'DCP1A', 'score': 3.57}, {'connected_gene': 'PBRM1', 'score': 2.75}]
chr3 GH03I053233 53233941 53244847 1.64 [{'connected_gene': 'PRKCD', 'score': 23.47}, {'connected_gene': 'SNORD38C', 'score': 11.33}, {'connected_gene': 'TKT', 'score': 8.84}, {'connected_gene': 'DCP1A', 'score': 7.03}, {'connected_gene': 'ITIH4', 'score': 5.89}, {'connected_gene': 'GNL3', 'score': 4.76}, {'connected_gene': 'STIMATE', 'score': 1.37}]
chr3 GH03I052668 52668832 52672482 1.43 [{'connected_gene': 'PBRM1', 'score': 29.04}, {'connected_gene': 'SNORD69', 'score': 11.61}, {'connected_gene': 'NT5DC2', 'score': 10.63}, {'connected_gene': 'ITIH4', 'score': 5.49}, {'connected_gene': 'ITIH1', 'score': 5.35}, {'connected_gene': 'GLYCTK', 'score': 3.16}, {'connected_gene': 'PRKCD', 'score': 2.78}, {'connected_gene': 'STIMATE', 'score': 1.53}, {'connected_gene': 'WDR82', 'score': 1.37}, {'connected_gene': 'GNL3', 'score': 0.39}, {'connected_gene': 'RNU6ATAC16P', 'score': 0.14}]
chr3 GH03I052739 52739072 52740909 0.31 [{'connected_gene': 'PBRM1', 'score': 38.37}, {'connected_gene': 'GNL3', 'score': 21.8}, {'connected_gene': 'ITIH4', 'score': 19.08}, {'connected_gene': 'RFT1', 'score': 12.13}, {'connected_gene': 'RRP9', 'score': 12.0}, {'connected_gene': 'GLT8D1', 'score': 11.83}, {'connected_gene': 'SNORD69', 'score': 11.15}, {'connected_gene': 'ITIH4-AS1', 'score': 11.0}, {'connected_gene': 'ENSG00000243696', 'score': 10.97}, {'connected_gene': 'MUSTN1', 'score': 10.66}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 10.61}, {'connected_gene': 'STIMATE', 'score': 10.61}, {'connected_gene': 'NT5DC2', 'score': 10.01}, {'connected_gene': 'SMIM4', 'score': 10.01}, {'connected_gene': 'STAB1', 'score': 10.0}, {'connected_gene': 'LOC100499399', 'score': 0.77}, {'connected_gene': 'LOC101059924', 'score': 0.39}, {'connected_gene': 'NEK4', 'score': 0.29}]
chr3 GH03I053043 53043333 53047245 1.93 [{'connected_gene': 'SFMBT1', 'score': 566.92}, {'connected_gene': 'GC03P053048', 'score': 550.77}, {'connected_gene': 'ITIH4', 'score': 32.22}, {'connected_gene': 'RFT1', 'score': 26.35}, {'connected_gene': 'PBRM1', 'score': 17.35}, {'connected_gene': 'STIMATE', 'score': 10.55}, {'connected_gene': 'SNORD19B', 'score': 10.07}, {'connected_gene': 'PRKCD', 'score': 10.05}, {'connected_gene': 'ITIH3', 'score': 4.2}, {'connected_gene': 'LOC105377135', 'score': 0.25}, {'connected_gene': 'ENSG00000272305', 'score': 0.23}]
chr3 GH03I052934 52934745 52934894 0.57 [{'connected_gene': 'STIMATE', 'score': 0.28}, {'connected_gene': 'LOC105377135', 'score': 0.21}, {'connected_gene': 'SFMBT1', 'score': 0.14}]
chr3 GH03I053030 53030873 53031489 0.49 [{'connected_gene': 'STIMATE', 'score': 10.02}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 10.02}, {'connected_gene': 'ENSG00000243696', 'score': 9.98}, {'connected_gene': 'MUSTN1', 'score': 9.98}, {'connected_gene': 'GC03P053048', 'score': 0.39}, {'connected_gene': 'SFMBT1', 'score': 0.37}, {'connected_gene': 'LOC105377135', 'score': 0.29}, {'connected_gene': 'ENSG00000272305', 'score': 0.2}]
chr3 GH03I052896 52896337 52898241 1.85 [{'connected_gene': 'STIMATE', 'score': 550.77}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 550.77}, {'connected_gene': 'ITIH4', 'score': 34.9}, {'connected_gene': 'ITIH3', 'score': 4.3}, {'connected_gene': 'ENSG00000279144', 'score': 0.25}]
chr3 GH03I053103 53103903 53105173 0.2 [{'connected_gene': 'ITIH4', 'score': 13.78}, {'connected_gene': 'RFT1', 'score': 11.9}, {'connected_gene': 'PRKCD', 'score': 10.88}, {'connected_gene': 'ENSG00000243696', 'score': 10.61}, {'connected_gene': 'STIMATE', 'score': 9.9}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 9.9}, {'connected_gene': 'MUSTN1', 'score': 9.89}, {'connected_gene': 'ENSG00000272305', 'score': 0.44}]
chr3 GH03I052840 52840099 52843739 1 [{'connected_gene': 'ITIH4', 'score': 45.13}, {'connected_gene': 'RFT1', 'score': 15.81}, {'connected_gene': 'ITIH1', 'score': 4.82}, {'connected_gene': 'GLYCTK', 'score': 4.58}, {'connected_gene': 'RPL29', 'score': 3.68}, {'connected_gene': 'PIR43341', 'score': 0.77}, {'connected_gene': 'MIR8064', 'score': 0.77}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 0.22}, {'connected_gene': 'STIMATE', 'score': 0.22}]
chr3 GH03I052915 52915001 52915800 0.8 [{'connected_gene': 'ITIH4', 'score': 22.35}, {'connected_gene': 'ENSG00000243696', 'score': 10.6}, {'connected_gene': 'MUSTN1', 'score': 10.12}, {'connected_gene': 'PRKCD', 'score': 3.06}, {'connected_gene': 'DCP1A', 'score': 1.7}, {'connected_gene': 'STIMATE', 'score': 0.37}, {'connected_gene': 'LOC105377135', 'score': 0.18}, {'connected_gene': 'SFMBT1', 'score': 0.12}]
chr3 GH03I052890 52890491 52894757 1.36 [{'connected_gene': 'ITIH4', 'score': 44.87}, {'connected_gene': 'ENSG00000243696', 'score': 11.17}, {'connected_gene': 'ITIH4-AS1', 'score': 11.15}, {'connected_gene': 'PBRM1', 'score': 10.72}, {'connected_gene': 'MUSTN1', 'score': 10.68}, {'connected_gene': 'SNORD69', 'score': 9.64}, {'connected_gene': 'ENSG00000222345', 'score': 9.64}, {'connected_gene': 'SNORD19B', 'score': 9.64}, {'connected_gene': 'SNORD19', 'score': 9.64}, {'connected_gene': 'ENSG00000252787', 'score': 9.64}, {'connected_gene': 'GNL3', 'score': 9.64}, {'connected_gene': 'STIMATE', 'score': 5.64}, {'connected_gene': 'DCP1A', 'score': 5.23}, {'connected_gene': 'PRKCD', 'score': 4.12}, {'connected_gene': 'SFMBT1', 'score': 1.71}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 0.77}, {'connected_gene': 'ENSG00000279144', 'score': 0.26}]
chr3 GH03I052982 52982833 52984600 1.01 [{'connected_gene': 'ITIH4', 'score': 19.11}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 9.86}, {'connected_gene': 'STIMATE', 'score': 9.86}, {'connected_gene': 'ENSG00000243696', 'score': 9.55}, {'connected_gene': 'MUSTN1', 'score': 9.55}, {'connected_gene': 'LOC105377135', 'score': 0.37}, {'connected_gene': 'SFMBT1', 'score': 0.21}, {'connected_gene': 'ENSG00000272305', 'score': 0.13}]
chr3 GH03I052774 52774585 52776817 1.11 [{'connected_gene': 'ITIH1', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 26.83}, {'connected_gene': 'ITIH4-AS1', 'score': 11.3}, {'connected_gene': 'ITIH4', 'score': 11.27}, {'connected_gene': 'ENSG00000243696', 'score': 11.26}, {'connected_gene': 'MUSTN1', 'score': 10.24}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 10.14}, {'connected_gene': 'STIMATE', 'score': 10.14}, {'connected_gene': 'ITIH3', 'score': 5.74}, {'connected_gene': 'NEK4', 'score': 0.77}]
chr3 GH03I052782 52782137 52782196 0.5 [{'connected_gene': 'ITIH1', 'score': 550.77}, {'connected_gene': 'ENSG00000243696', 'score': 11.03}, {'connected_gene': 'MUSTN1', 'score': 11.03}, {'connected_gene': 'STIMATE', 'score': 10.92}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 10.92}, {'connected_gene': 'ITIH3', 'score': 0.39}]
chr3 GH03I052778 52778575 52780916 1.39 [{'connected_gene': 'ITIH1', 'score': 550.77}, {'connected_gene': 'ITIH4', 'score': 15.66}, {'connected_gene': 'PBRM1', 'score': 13.5}, {'connected_gene': 'ENSG00000243696', 'score': 11.02}, {'connected_gene': 'MUSTN1', 'score': 11.02}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 10.92}, {'connected_gene': 'STIMATE', 'score': 10.92}, {'connected_gene': 'WDR82', 'score': 5.94}, {'connected_gene': 'ITIH3', 'score': 5.6}]
chr3 GH03I053144 53144751 53148000 1.11 [{'connected_gene': 'SNORD38C', 'score': 9.58}, {'connected_gene': 'STIMATE', 'score': 9.24}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 9.24}, {'connected_gene': 'ENSG00000243696', 'score': 9.23}, {'connected_gene': 'MUSTN1', 'score': 9.23}, {'connected_gene': 'PRKCD', 'score': 9.18}, {'connected_gene': 'PIR59540', 'score': 0.77}]
chr3 GH03I052844 52844306 52846598 1.2 [{'connected_gene': 'MIR8064', 'score': 550.77}, {'connected_gene': 'ITIH4', 'score': 45.12}, {'connected_gene': 'ITIH1', 'score': 15.59}, {'connected_gene': 'ITIH3', 'score': 10.8}, {'connected_gene': 'PIR43341', 'score': 0.44}, {'connected_gene': 'STIMATE', 'score': 0.23}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 0.23}]
chr3 GH03I052833 52833944 52837560 1.47 [{'connected_gene': 'ENSG00000243696', 'score': 550.77}, {'connected_gene': 'MUSTN1', 'score': 550.77}, {'connected_gene': 'ITIH4', 'score': 48.09}, {'connected_gene': 'RFT1', 'score': 9.12}, {'connected_gene': 'ITIH1', 'score': 4.83}, {'connected_gene': 'PIR43341', 'score': 0.77}, {'connected_gene': 'STIMATE', 'score': 0.21}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 0.21}]
chr3 GH03I052847 52847656 52849561 0.63 [{'connected_gene': 'ENSG00000279144', 'score': 550.77}, {'connected_gene': 'ITIH4', 'score': 29.27}, {'connected_gene': 'ITIH1', 'score': 15.02}, {'connected_gene': 'ITIH4-AS1', 'score': 11.86}, {'connected_gene': 'ITIH3', 'score': 10.8}, {'connected_gene': 'STIMATE', 'score': 0.25}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 0.25}]

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