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
ENST00000335754 [[53901092, 53902889], [53904008, 53904172], [53905258, 53905523], [53906410, 53906551], [53907058, 53907154], [53908237, 53908391], [53909974, 53910107], [53910646, 53910740], [53911240, 53911414], [53911673, 53911778], [53912383, 53912494], [53913965, 53914136], [53916005, 53916229]] [[53902745, 53902889], [53904008, 53904172], [53905258, 53905523], [53906410, 53906551], [53907058, 53907154], [53908237, 53908391], [53909974, 53910107], [53910646, 53910740], [53911240, 53911414], [53911673, 53911778], [53912383, 53912494], [53913965, 53914136], [53916005, 53916128]]
ENST00000488802 [[53902522, 53902889], [53904008, 53904324]] None
ENST00000482349 [[53902528, 53902889], [53904008, 53904172], [53905258, 53905523], [53906410, 53906551], [53907058, 53907154], [53908237, 53908391], [53909974, 53910107], [53910646, 53910740], [53911240, 53911414], [53911673, 53911778], [53912383, 53912494], [53913965, 53914099], [53915692, 53915851]] [[53902745, 53902889], [53904008, 53904172], [53905258, 53905523], [53906410, 53906551], [53907058, 53907154], [53908237, 53908391], [53909974, 53910107], [53910646, 53910740], [53911240, 53911414], [53911673, 53911778], [53912383, 53912455]]
ENST00000486794 [[53902679, 53902889], [53904008, 53904172], [53905258, 53905523], [53906410, 53906551], [53907058, 53907173], [53909974, 53910107], [53910646, 53910740], [53911240, 53911320]] [[53902745, 53902889], [53904008, 53904172], [53905258, 53905523], [53906410, 53906551], [53907058, 53907173], [53909974, 53910107], [53910646, 53910740], [53911240, 53911320]]
ENST00000231909 [[53902683, 53902889], [53904008, 53904172], [53905258, 53905523], [53906410, 53906551], [53907058, 53907173], [53909974, 53910107], [53910646, 53910740], [53911240, 53911320]] [[53902745, 53902889], [53904008, 53904172], [53905258, 53905523], [53906410, 53906551], [53907058, 53907173], [53909974, 53910107], [53910646, 53910674]]
ENST00000495993 [[53905184, 53905523], [53906410, 53906551], [53907058, 53907095]] None
ENST00000498740 [[53911285, 53911414], [53911673, 53911778], [53912383, 53912494], [53913965, 53914136], [53915692, 53915884]] [[53911285, 53911414], [53911673, 53911778], [53912383, 53912455]]
NM_022899 [[53901092, 53902889], [53904008, 53904172], [53905258, 53905523], [53906410, 53906551], [53907058, 53907154], [53908237, 53908391], [53909974, 53910107], [53910646, 53910740], [53911240, 53911414], [53911673, 53911778], [53912383, 53912494], [53913965, 53914136], [53916005, 53916229]] [[53902745, 53902889], [53904008, 53904172], [53905258, 53905523], [53906410, 53906551], [53907058, 53907154], [53908237, 53908391], [53909974, 53910107], [53910646, 53910740], [53911240, 53911414], [53911673, 53911778], [53912383, 53912494], [53913965, 53914136], [53916005, 53916128]]
Promoter
Chrom Start End Description
chr3 53915859 53915869 CAGE_peak_3_at_ACTR8_5end
chr3 53916169 53916187 CAGE_peak_1_at_ACTR8_5end
chr3 53916202 53916211 CAGE_peak_2_at_ACTR8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I054355 54355894 54357200 1.02 [{'connected_gene': 'ACTR8', 'score': 4.55}, {'connected_gene': 'PIR51414', 'score': 0.13}, {'connected_gene': 'CACNA2D3', 'score': 0.07}]
chr3 GH03I053833 53833092 53834037 0.31 [{'connected_gene': 'ACTR8', 'score': 10.51}, {'connected_gene': 'CHDH', 'score': 0.39}, {'connected_gene': 'ENSG00000271916', 'score': 0.28}]
chr3 GH03I053830 53830810 53831596 0.2 [{'connected_gene': 'ACTR8', 'score': 10.49}, {'connected_gene': 'CHDH', 'score': 0.37}, {'connected_gene': 'ENSG00000271916', 'score': 0.29}]
chr3 GH03I053880 53880349 53882800 2.01 [{'connected_gene': 'ACTR8', 'score': 587.65}, {'connected_gene': 'ENSG00000271976', 'score': 5.27}]
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 GH03I053890 53890436 53893203 2.03 [{'connected_gene': 'SELENOK', 'score': 556.65}, {'connected_gene': 'ACTR8', 'score': 37.25}, {'connected_gene': 'ENSG00000271976', 'score': 5.2}]
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 GH03I053725 53725631 53725928 0.39 [{'connected_gene': 'IL17RB', 'score': 10.9}, {'connected_gene': 'ACTR8', 'score': 10.77}, {'connected_gene': 'PIR47826', 'score': 0.26}, {'connected_gene': 'GC03P053782', 'score': 0.22}, {'connected_gene': 'CACNA1D', 'score': 0.05}]
chr3 GH03I053765 53765823 53766882 0.52 [{'connected_gene': 'IL17RB', 'score': 8.92}, {'connected_gene': 'ACTR8', 'score': 4.48}, {'connected_gene': 'GC03P053782', 'score': 0.37}, {'connected_gene': 'PIR47826', 'score': 0.17}, {'connected_gene': 'CACNA1D', 'score': 0.05}]