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
NM_001290205 [[53317442, 53321678], [53322082, 53322301], [53324814, 53324886], [53326098, 53326857], [53338206, 53338320], [53346270, 53346409], [53353433, 53353500], [53372117, 53372172], [53376170, 53376298], [53378928, 53378969], [53381409, 53381654]] [[53321597, 53321678], [53322082, 53322301], [53324814, 53324886], [53326098, 53326857], [53338206, 53338320], [53346270, 53346409], [53353433, 53353500], [53372117, 53372172], [53376170, 53376203]]
NM_018403 [[53317442, 53321678], [53322082, 53322301], [53324814, 53324886], [53326098, 53326857], [53338206, 53338320], [53346270, 53346409], [53353433, 53353500], [53376170, 53376298], [53378928, 53378969], [53381409, 53381654]] [[53321597, 53321678], [53322082, 53322301], [53324814, 53324886], [53326098, 53326857], [53338206, 53338320], [53346270, 53346409], [53353433, 53353500], [53376170, 53376298], [53378928, 53378969], [53381409, 53381544]]
NM_001290204 [[53317442, 53321678], [53322082, 53322301], [53324814, 53324886], [53326098, 53326857], [53346270, 53346409], [53353433, 53353500], [53376170, 53376298], [53378928, 53378969], [53381409, 53381654]] [[53321597, 53321678], [53322082, 53322301], [53324814, 53324886], [53326098, 53326857], [53346270, 53346409], [53353433, 53353500], [53376170, 53376298], [53378928, 53378969], [53381409, 53381544]]
NM_001290206 [[53317442, 53321678], [53322082, 53322301], [53324814, 53324886], [53326098, 53326857], [53338206, 53338320], [53346270, 53346409], [53353433, 53353500], [53378928, 53378969], [53381409, 53381654]] [[53321597, 53321678], [53322082, 53322301], [53324814, 53324886], [53326098, 53326857], [53338206, 53338320], [53346270, 53346409], [53353433, 53353441]]
NM_001290207 [[53317442, 53321678], [53322082, 53322301], [53324814, 53324886], [53326098, 53326857], [53346270, 53346409], [53353433, 53353500], [53378928, 53378969], [53381409, 53381654]] [[53321597, 53321678], [53322082, 53322301], [53324814, 53324886], [53326098, 53326857], [53346270, 53346409], [53353433, 53353441]]
Promoter
Chrom Start End Description
chr3 53324763 53324768 CAGE_peak_2_at_DCP1A_5end
chr3 53381527 53381538 CAGE_peak_3_at_DCP1A_5end
chr3 53381539 53381577 CAGE_peak_1_at_DCP1A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I053195 53195653 53197472 1.37 [{'connected_gene': 'RFT1', 'score': 24.68}, {'connected_gene': 'PRKCD', 'score': 20.67}, {'connected_gene': 'PBRM1', 'score': 9.81}, {'connected_gene': 'SNORD38C', 'score': 9.76}, {'connected_gene': 'TKT', 'score': 5.88}, {'connected_gene': 'DCP1A', 'score': 4.27}, {'connected_gene': 'ITIH4', 'score': 4.07}]
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 GH03I053227 53227362 53233773 0.46 [{'connected_gene': 'RFT1', 'score': 11.43}, {'connected_gene': 'SNORD38C', 'score': 10.13}, {'connected_gene': 'TKT', 'score': 7.13}, {'connected_gene': 'PRKCD', 'score': 5.36}, {'connected_gene': 'DCP1A', 'score': 5.1}, {'connected_gene': 'ITIH4', 'score': 4.14}]
chr3 GH03I053492 53492724 53495000 1.89 [{'connected_gene': 'CACNA1D', 'score': 550.1}, {'connected_gene': 'ACTR8', 'score': 5.11}, {'connected_gene': 'DCP1A', 'score': 4.35}, {'connected_gene': 'TKT', 'score': 4.31}, {'connected_gene': 'RFT1', 'score': 3.97}, {'connected_gene': 'RPS25P4', 'score': 0.37}, {'connected_gene': 'GC03P053524', 'score': 0.29}]
chr3 GH03I053327 53327952 53329543 0.57 [{'connected_gene': 'CACNA1D', 'score': 550.77}, {'connected_gene': 'TKT', 'score': 5.99}, {'connected_gene': 'SFMBT1', 'score': 4.7}, {'connected_gene': 'DCP1A', 'score': 0.37}, {'connected_gene': 'GC03P053298', 'score': 0.29}]
chr3 GH03I053320 53320514 53321534 0.46 [{'connected_gene': 'CACNA1D', 'score': 0.44}, {'connected_gene': 'GC03P053298', 'score': 0.34}, {'connected_gene': 'DCP1A', 'score': 0.31}]
chr3 GH03I053217 53217453 53218895 0.38 [{'connected_gene': 'TKT', 'score': 7.07}, {'connected_gene': 'DCP1A', 'score': 5.23}, {'connected_gene': 'PRKCD', 'score': 0.21}]
chr3 GH03I053248 53248930 53256572 2.49 [{'connected_gene': 'TKT', 'score': 560.47}, {'connected_gene': 'PRKCD', 'score': 13.4}, {'connected_gene': 'DCP1A', 'score': 3.73}]
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 GH03I053221 53221972 53222831 0.8 [{'connected_gene': 'DCP1A', 'score': 4.98}, {'connected_gene': 'TKT', 'score': 0.29}, {'connected_gene': 'PRKCD', 'score': 0.2}]
chr3 GH03I053477 53477526 53480835 1.11 [{'connected_gene': 'DCP1A', 'score': 5.08}, {'connected_gene': 'PRKCD', 'score': 4.63}, {'connected_gene': 'RPS25P4', 'score': 0.77}, {'connected_gene': 'GC03P053524', 'score': 0.25}, {'connected_gene': 'CACNA1D', 'score': 0.1}]
chr3 GH03I053497 53497703 53500205 0.71 [{'connected_gene': 'DCP1A', 'score': 5.84}, {'connected_gene': 'RPS25P4', 'score': 0.34}, {'connected_gene': 'GC03P053524', 'score': 0.31}, {'connected_gene': 'CACNA1D', 'score': 0.1}]
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 GH03I053247 53247490 53248751 0.52 [{'connected_gene': 'PRKCD', 'score': 5.29}, {'connected_gene': 'DCP1A', 'score': 4.78}, {'connected_gene': 'TKT', 'score': 4.77}, {'connected_gene': 'GNL3', 'score': 4.03}]
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 GH03I053268 53268602 53272151 1.75 [{'connected_gene': 'PRKCD', 'score': 12.82}, {'connected_gene': 'SNORD38C', 'score': 11.24}, {'connected_gene': 'TKT', 'score': 8.66}, {'connected_gene': 'SFMBT1', 'score': 4.75}, {'connected_gene': 'DCP1A', 'score': 3.4}, {'connected_gene': 'PIR47365', 'score': 0.39}, {'connected_gene': 'GC03M053284', 'score': 0.39}]
chr3 GH03I053747 53747975 53750825 1.15 [{'connected_gene': 'IL17RB', 'score': 9.12}, {'connected_gene': 'SELENOK', 'score': 2.88}, {'connected_gene': 'DCP1A', 'score': 2.03}, {'connected_gene': 'GC03P053782', 'score': 0.29}, {'connected_gene': 'PIR47826', 'score': 0.2}, {'connected_gene': 'CACNA1D', 'score': 0.05}]
chr3 GH03I053354 53354779 53355851 1.09 [{'connected_gene': 'PBRM1', 'score': 17.32}, {'connected_gene': 'SNORD38C', 'score': 11.61}, {'connected_gene': 'ENSG00000212608', 'score': 11.11}, {'connected_gene': 'GLT8D1', 'score': 10.4}, {'connected_gene': 'GNL3', 'score': 10.07}, {'connected_gene': 'DCP1A', 'score': 10.05}, {'connected_gene': 'RFT1', 'score': 9.9}, {'connected_gene': 'TKT', 'score': 5.96}, {'connected_gene': 'LOC105377094', 'score': 0.37}, {'connected_gene': 'CACNA1D', 'score': 0.31}, {'connected_gene': 'GC03P053298', '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 GH03I053371 53371001 53371200 0.2 [{'connected_gene': 'LOC105377094', 'score': 550.77}, {'connected_gene': 'DCP1A', 'score': 0.34}, {'connected_gene': 'CACNA1D', 'score': 0.26}, {'connected_gene': 'GC03P053298', 'score': 0.19}]
chr3 GH03I053350 53350600 53351200 1.08 [{'connected_gene': 'ENSG00000212608', 'score': 11.1}, {'connected_gene': 'DCP1A', 'score': 0.77}, {'connected_gene': 'CACNA1D', 'score': 0.34}, {'connected_gene': 'LOC105377094', 'score': 0.34}, {'connected_gene': 'GC03P053298', 'score': 0.23}]
chr3 GH03I053423 53423098 53423783 0.54 [{'connected_gene': 'ENSG00000212608', 'score': 11.79}, {'connected_gene': 'PRKCD', 'score': 4.69}, {'connected_gene': 'DCP1A', 'score': 4.45}, {'connected_gene': 'GC03M053387', 'score': 0.28}, {'connected_gene': 'GC03P053472', 'score': 0.25}, {'connected_gene': 'CACNA1D', 'score': 0.16}]
chr3 GH03I053286 53286455 53288598 0.43 [{'connected_gene': 'GC03P053288', 'score': 550.77}, {'connected_gene': 'SNORD38C', 'score': 11.24}, {'connected_gene': 'RFT1', 'score': 9.75}, {'connected_gene': 'TKT', 'score': 8.48}, {'connected_gene': 'GC03M053283', 'score': 0.77}, {'connected_gene': 'GC03M053287', 'score': 0.77}, {'connected_gene': 'DCP1A', 'score': 0.21}]