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
ENST00000515683 [[100257648, 100257933], [100260733, 100260872], [100261731, 100261867], [100263951, 100264212], [100266018, 100266238], [100266335, 100266423], [100268162, 100268301], [100268901, 100269003], [100273814, 100274184]] [[100257908, 100257933], [100260733, 100260872], [100261731, 100261867], [100263951, 100264212], [100266018, 100266238], [100266335, 100266423], [100268162, 100268301], [100268901, 100269003], [100273814, 100273832]]
ENST00000510055 [[100264082, 100264212], [100266018, 100266238], [100266335, 100266423], [100268162, 100268301], [100268901, 100269003], [100272169, 100272289], [100273814, 100273887]] None
ENST00000511397 [[100264167, 100264212], [100266018, 100266238], [100266335, 100266423], [100268162, 100268301], [100273814, 100273903]] None
ENST00000505942 [[100266044, 100266238], [100266335, 100266377], [100268162, 100268301], [100268901, 100269003], [100273814, 100273901]] None
NM_000669 [[100257648, 100257933], [100260733, 100260872], [100261731, 100261867], [100263951, 100264212], [100266018, 100266238], [100266335, 100266423], [100268162, 100268301], [100268901, 100269003], [100273814, 100274202]] [[100257908, 100257933], [100260733, 100260872], [100261731, 100261867], [100263951, 100264212], [100266018, 100266238], [100266335, 100266423], [100268162, 100268301], [100268901, 100269003], [100273814, 100273832]]
NR_133005 [[100257648, 100257933], [100260733, 100260872], [100261731, 100261867], [100263995, 100264212], [100266018, 100266238], [100266335, 100266423], [100268162, 100268301], [100268901, 100269003], [100273814, 100274202]] None
Promoter
Chrom Start End Description
chr4 100273894 100273908 CAGE_peak_1_at_ADH1C_5end
chr4 100273911 100273922 CAGE_peak_2_at_ADH1C_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I099351 99351357 99351741 0.34 [{'connected_gene': 'ADH1C', 'score': 566.77}, {'connected_gene': 'ADH1B', 'score': 560.95}, {'connected_gene': 'ADH6', 'score': 24.38}, {'connected_gene': 'ADH1A', 'score': 18.68}, {'connected_gene': 'ADH4', 'score': 16.45}, {'connected_gene': 'PIR40463', 'score': 0.28}]
chr4 GH04I099352 99352617 99353811 0.96 [{'connected_gene': 'ADH1C', 'score': 559.98}, {'connected_gene': 'ADH1B', 'score': 550.77}, {'connected_gene': 'ADH1A', 'score': 12.29}, {'connected_gene': 'ADH5', 'score': 5.73}, {'connected_gene': 'LOC102723576', 'score': 0.23}]
chr4 GH04I099382 99382532 99385657 1.39 [{'connected_gene': 'ADH1C', 'score': 11.45}, {'connected_gene': 'ADH1A', 'score': 8.97}, {'connected_gene': 'MTTP', 'score': 5.12}, {'connected_gene': 'ADH5', 'score': 2.38}, {'connected_gene': 'LOC102723576', 'score': 0.34}]
chr4 GH04I099389 99389539 99391242 0.51 [{'connected_gene': 'ADH1C', 'score': 11.43}, {'connected_gene': 'LOC100507053', 'score': 10.38}, {'connected_gene': 'ADH1A', 'score': 10.2}, {'connected_gene': 'ADH5', 'score': 4.92}, {'connected_gene': 'LOC102723576', 'score': 0.39}]
chr4 GH04I099394 99394544 99396473 0.97 [{'connected_gene': 'ADH1C', 'score': 11.58}, {'connected_gene': 'LOC100507053', 'score': 10.38}, {'connected_gene': 'ADH1A', 'score': 10.19}, {'connected_gene': 'RNU7-149P', 'score': 10.16}, {'connected_gene': 'MTTP', 'score': 4.86}, {'connected_gene': 'LOC102723576', 'score': 0.44}]
chr4 GH04I099381 99381054 99381238 0.39 [{'connected_gene': 'ADH1A', 'score': 36.62}, {'connected_gene': 'ADH4', 'score': 34.81}, {'connected_gene': 'ADH1C', 'score': 27.4}, {'connected_gene': 'ADH1B', 'score': 22.22}, {'connected_gene': 'ADH6', 'score': 14.39}, {'connected_gene': 'LOC100507053', 'score': 10.46}, {'connected_gene': 'LOC102723576', 'score': 0.34}]
chr4 GH04I099387 99387731 99389429 0.2 [{'connected_gene': 'ADH1A', 'score': 8.53}, {'connected_gene': 'LOC102723576', 'score': 0.37}, {'connected_gene': 'ADH1C', 'score': 0.28}]
chr4 GH04I099321 99321642 99325813 0.88 [{'connected_gene': 'ADH1A', 'score': 22.28}, {'connected_gene': 'LOC100507053', 'score': 11.22}, {'connected_gene': 'ADH1C', 'score': 8.81}, {'connected_gene': 'ENSG00000272777', 'score': 4.65}, {'connected_gene': 'PIR40463', 'score': 0.44}, {'connected_gene': 'ADH1B', 'score': 0.31}]
chr4 GH04I099402 99402671 99406253 1.64 [{'connected_gene': 'LOC102723576', 'score': 550.77}, {'connected_gene': 'ADH4', 'score': 14.36}, {'connected_gene': 'ADH6', 'score': 11.33}, {'connected_gene': 'LOC100507053', 'score': 10.93}, {'connected_gene': 'PCNAP1', 'score': 9.94}, {'connected_gene': 'ADH5', 'score': 8.86}, {'connected_gene': 'ADH1A', 'score': 6.13}, {'connected_gene': 'ADH1B', 'score': 2.8}, {'connected_gene': 'ADH1C', 'score': 2.28}]