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
ENST00000383083 [[145910125, 145912242], [145912910, 145913069], [145914418, 145914580], [145924312, 145924548], [145938601, 145938712], [145939851, 145939879], [145968746, 145968966]] [[145912197, 145912242], [145912910, 145913069], [145914418, 145914580], [145924312, 145924548], [145938601, 145938712], [145939851, 145939858]]
ENST00000354952 [[145910125, 145912242], [145912910, 145913069], [145914418, 145914580], [145917599, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939879], [145968746, 145968966]] [[145912197, 145912242], [145912910, 145913069], [145914418, 145914580], [145917599, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939858]]
ENST00000433593 [[145910191, 145912242], [145912910, 145913069], [145914418, 145914580], [145924312, 145924548], [145938601, 145938712], [145968746, 145968866]] [[145912197, 145912242], [145912910, 145913069], [145914418, 145914580], [145924312, 145924548], [145938601, 145938674]]
ENST00000446574 [[145912077, 145912242], [145912910, 145913069], [145914418, 145914580], [145917599, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939879], [145968343, 145968654]] [[145912197, 145912242], [145912910, 145913069], [145914418, 145914580], [145917599, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939858]]
ENST00000493382 [[145912143, 145912242], [145912910, 145913069], [145914418, 145914580], [145917599, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939879], [145941519, 145941564], [145968343, 145968424], [145968746, 145968930]] [[145912197, 145912242], [145912910, 145913069], [145914418, 145914580], [145917599, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939858]]
ENST00000475019 [[145914191, 145914580], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939879]] None
ENST00000460350 [[145914418, 145914580], [145917599, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939879], [145968343, 145968424], [145968746, 145968912]] [[145914418, 145914580], [145917599, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939858]]
ENST00000460885 [[145914492, 145914580], [145924312, 145924548], [145938601, 145938712], [145939851, 145939879], [145968746, 145968892]] [[145914492, 145914580], [145924312, 145924548], [145938601, 145938712], [145939851, 145939858]]
ENST00000476202 [[145917599, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939879], [145941519, 145941564], [145968746, 145968870]] [[145917599, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939858]]
ENST00000481701 [[145917795, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939879], [145939986, 145940220]] [[145917795, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939858]]
ENST00000498625 [[145924373, 145924548], [145938601, 145938712], [145939851, 145940158]] [[145924373, 145924548], [145938601, 145938712], [145939851, 145939858]]
NM_001128305 [[145910121, 145912242], [145912910, 145913069], [145914418, 145914580], [145917599, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939879], [145968343, 145968651]] [[145912197, 145912242], [145912910, 145913069], [145914418, 145914580], [145917599, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939858]]
NM_001128304 [[145910121, 145912242], [145912910, 145913069], [145914418, 145914580], [145917599, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939879], [145941519, 145941564], [145968343, 145968424], [145968746, 145968966]] [[145912197, 145912242], [145912910, 145913069], [145914418, 145914580], [145917599, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939858]]
NM_020353 [[145910121, 145912242], [145912910, 145913069], [145914418, 145914580], [145917599, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939879], [145968746, 145968966]] [[145912197, 145912242], [145912910, 145913069], [145914418, 145914580], [145917599, 145917826], [145918821, 145918864], [145924312, 145924548], [145938601, 145938712], [145939851, 145939858]]
NM_001128306 [[145910121, 145912242], [145912910, 145913069], [145914418, 145914580], [145924312, 145924548], [145938601, 145938712], [145939851, 145939879], [145968746, 145968966]] [[145912197, 145912242], [145912910, 145913069], [145914418, 145914580], [145924312, 145924548], [145938601, 145938712], [145939851, 145939858]]
NM_001177304 [[145910121, 145912242], [145912910, 145913069], [145914418, 145914580], [145924312, 145924548], [145938601, 145938712], [145968746, 145968966]] [[145912197, 145912242], [145912910, 145913069], [145914418, 145914580], [145924312, 145924548], [145938601, 145938674]]
Promoter
Chrom Start End Description
chr3 145940083 145940098 CAGE_peak_6_at_PLSCR4_5end
chr3 145940102 145940109 CAGE_peak_19_at_PLSCR4_5end
chr3 145940126 145940135 CAGE_peak_15_at_PLSCR4_5end
chr3 145940194 145940211 CAGE_peak_12_at_PLSCR4_5end
chr3 145940214 145940228 CAGE_peak_14_at_PLSCR4_5end
chr3 145940240 145940264 CAGE_peak_11_at_PLSCR4_5end
chr3 145968380 145968408 CAGE_peak_8_at_PLSCR4_5end
chr3 145968441 145968451 CAGE_peak_17_at_PLSCR4_5end
chr3 145968814 145968846 CAGE_peak_2_at_PLSCR4_5end
chr3 145968857 145968899 CAGE_peak_1_at_PLSCR4_5end
chr3 145968900 145968915 CAGE_peak_3_at_PLSCR4_5end
chr3 145968923 145968935 CAGE_peak_4_at_PLSCR4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I146249 146249401 146252292 1.77 [{'connected_gene': 'PLSCR4', 'score': 558.9}, {'connected_gene': 'PLSCR2', 'score': 6.07}, {'connected_gene': 'LOC105374145', 'score': 0.21}]
chr3 GH03I146241 146241619 146242645 0.7 [{'connected_gene': 'PLSCR4', 'score': 8.17}, {'connected_gene': 'PLSCR2', 'score': 4.96}, {'connected_gene': 'LOC105374145', 'score': 0.23}]
chr3 GH03I146273 146273824 146276247 0.63 [{'connected_gene': 'PLSCR4', 'score': 11.49}, {'connected_gene': 'PLSCR2', 'score': 4.32}, {'connected_gene': 'LOC100419967', 'score': 0.19}]
chr3 GH03I146256 146256576 146257696 0.38 [{'connected_gene': 'PLSCR4', 'score': 9.69}, {'connected_gene': 'PLSCR2', 'score': 5.27}, {'connected_gene': 'LOC100419967', 'score': 0.16}]
chr3 GH03I146313 146313055 146315297 1.05 [{'connected_gene': 'PLSCR4', 'score': 16.71}, {'connected_gene': 'PLSCR1', 'score': 11.02}, {'connected_gene': 'PLSCR2', 'score': 6.73}, {'connected_gene': 'LOC100419967', 'score': 0.29}]
chr3 GH03I146307 146307286 146310100 0.86 [{'connected_gene': 'PLSCR4', 'score': 16.12}, {'connected_gene': 'PLSCR1', 'score': 11.01}, {'connected_gene': 'LOC100419967', 'score': 0.28}]
chr3 GH03I146327 146327254 146327403 0.56 [{'connected_gene': 'PLSCR4', 'score': 11.35}, {'connected_gene': 'PLOD2', 'score': 10.97}, {'connected_gene': 'PLSCR2', 'score': 4.22}, {'connected_gene': 'LOC100419967', 'score': 0.34}]
chr3 GH03I146221 146221107 146223801 1.63 [{'connected_gene': 'PLSCR4', 'score': 575.6}, {'connected_gene': 'PLOD2', 'score': 10.53}, {'connected_gene': 'ENSG00000243415', 'score': 10.33}, {'connected_gene': 'LOC105374145', 'score': 0.29}]
chr3 GH03I146247 146247601 146247800 0.2 [{'connected_gene': 'PLSCR4', 'score': 0.77}, {'connected_gene': 'LOC105374145', 'score': 0.22}]
chr3 GH03I146277 146277600 146278743 0.79 [{'connected_gene': 'PLSCR4', 'score': 11.11}, {'connected_gene': 'LOC100419967', 'score': 0.19}]
chr3 GH03I146284 146284030 146284612 0.31 [{'connected_gene': 'PLSCR4', 'score': 10.85}, {'connected_gene': 'LOC100419967', 'score': 0.21}]
chr3 GH03I146390 146390598 146391723 0.38 [{'connected_gene': 'PLSCR2', 'score': 23.5}, {'connected_gene': 'PLSCR4', 'score': 5.71}, {'connected_gene': 'PLSCR1', 'score': 5.26}, {'connected_gene': 'GC03P146374', 'score': 0.37}, {'connected_gene': 'ENSG00000241358', 'score': 0.31}]
chr3 GH03I146550 146550721 146551863 1.11 [{'connected_gene': 'PLSCR1', 'score': 17.9}, {'connected_gene': 'PLSCR4', 'score': 9.84}, {'connected_gene': 'PLSCR2', 'score': 9.62}, {'connected_gene': 'GC03P146572', 'score': 0.34}]
chr3 GH03I146194 146194119 146197753 0.46 [{'connected_gene': 'PLOD2', 'score': 10.99}, {'connected_gene': 'PLSCR4', 'score': 10.87}, {'connected_gene': 'LNCSRLR', 'score': 10.36}, {'connected_gene': 'ENSG00000243415', 'score': 10.35}, {'connected_gene': 'LOC105374145', 'score': 0.44}]
chr3 GH03I146139 146139055 146141225 0.2 [{'connected_gene': 'PLOD2', 'score': 32.56}, {'connected_gene': 'ENSG00000243415', 'score': 10.81}, {'connected_gene': 'PLSCR4', 'score': 10.3}, {'connected_gene': 'LNCSRLR', 'score': 10.27}, {'connected_gene': 'GC03P146077', 'score': 0.21}]
chr3 GH03I146184 146184716 146184952 0.59 [{'connected_gene': 'PLOD2', 'score': 11.51}, {'connected_gene': 'ENSG00000243415', 'score': 11.36}, {'connected_gene': 'LNCSRLR', 'score': 11.3}, {'connected_gene': 'PLSCR4', 'score': 9.89}, {'connected_gene': 'LOC105374145', 'score': 0.44}, {'connected_gene': 'GC03M146166', 'score': 0.37}]
chr3 GH03I146180 146180608 146182141 0.2 [{'connected_gene': 'PLOD2', 'score': 14.01}, {'connected_gene': 'LNCSRLR', 'score': 10.95}, {'connected_gene': 'ENSG00000243415', 'score': 10.94}, {'connected_gene': 'PLSCR4', 'score': 9.5}, {'connected_gene': 'LOC105374145', 'score': 0.44}, {'connected_gene': 'GC03M146166', 'score': 0.39}]
chr3 GH03I146151 146151660 146167535 2.72 [{'connected_gene': 'PLOD2', 'score': 574.66}, {'connected_gene': 'LNCSRLR', 'score': 32.55}, {'connected_gene': 'PLSCR4', 'score': 11.68}, {'connected_gene': 'ENSG00000243415', 'score': 10.58}, {'connected_gene': 'ENSG00000261051', 'score': 8.43}, {'connected_gene': 'GC03M146166', 'score': 0.44}, {'connected_gene': 'LOC105374145', 'score': 0.29}, {'connected_gene': 'GC03P146077', 'score': 0.18}]
chr3 GH03I146144 146144731 146149700 0.59 [{'connected_gene': 'PLOD2', 'score': 21.84}, {'connected_gene': 'LNCSRLR', 'score': 11.0}, {'connected_gene': 'ENSG00000243415', 'score': 10.99}, {'connected_gene': 'PLSCR4', 'score': 10.33}, {'connected_gene': 'ENSG00000261051', 'score': 8.81}, {'connected_gene': 'GC03P146077', 'score': 0.2}]
chr3 GH03I146142 146142387 146144047 0.72 [{'connected_gene': 'PLOD2', 'score': 31.73}, {'connected_gene': 'LNCSRLR', 'score': 29.23}, {'connected_gene': 'ENSG00000243415', 'score': 10.28}, {'connected_gene': 'PLSCR4', 'score': 9.6}, {'connected_gene': 'GC03P146077', 'score': 0.2}]
chr3 GH03I146106 146106948 146107284 0.2 [{'connected_gene': 'PLOD2', 'score': 28.58}, {'connected_gene': 'LNCSRLR', 'score': 10.82}, {'connected_gene': 'ENSG00000243415', 'score': 10.81}, {'connected_gene': 'PLSCR4', 'score': 9.71}, {'connected_gene': 'GC03P146077', 'score': 0.31}]
chr3 GH03I146213 146213313 146213354 0.22 [{'connected_gene': 'PLSCR5', 'score': 4.12}, {'connected_gene': 'PLSCR4', 'score': 2.34}, {'connected_gene': 'LOC105374145', 'score': 0.34}]
chr3 GH03I146117 146117120 146119227 0.51 [{'connected_gene': 'LNCSRLR', 'score': 32.39}, {'connected_gene': 'PLOD2', 'score': 11.19}, {'connected_gene': 'ENSG00000243415', 'score': 10.97}, {'connected_gene': 'PLSCR4', 'score': 9.86}, {'connected_gene': 'ENSG00000261051', 'score': 8.85}, {'connected_gene': 'GC03P146077', 'score': 0.26}]
chr3 GH03I146115 146115155 146116323 1.11 [{'connected_gene': 'LNCSRLR', 'score': 31.31}, {'connected_gene': 'PLOD2', 'score': 31.2}, {'connected_gene': 'ENSG00000243415', 'score': 10.97}, {'connected_gene': 'PLSCR4', 'score': 9.86}, {'connected_gene': 'GC03P146077', 'score': 0.28}]

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