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
ENST00000359315 [[507298, 507844], [518888, 519654]] [[507506, 507844], [518888, 519423]]
ENST00000588278 [[507499, 510372]] None
NM_033513 [[507496, 507844], [518888, 519654]] [[507506, 507844], [518888, 519423]]
Promoter
Chrom Start End Description
chr19 507487 507508 CAGE_peak_1_at_TPGS1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I000502 502921 503050 0.76 [{'connected_gene': 'TPGS1', 'score': 0.77}, {'connected_gene': 'LOC105372232', 'score': 0.77}, {'connected_gene': 'MADCAM1', 'score': 0.39}]
chr19 GH19I000506 506251 508939 2.28 [{'connected_gene': 'TPGS1', 'score': 550.77}, {'connected_gene': 'LOC105372232', 'score': 550.77}, {'connected_gene': 'DAZAP1', 'score': 12.17}, {'connected_gene': 'MIER2', 'score': 10.03}, {'connected_gene': 'MADCAM1', 'score': 6.43}, {'connected_gene': 'C2CD4C', 'score': 4.8}]
chr19 GH19I000493 493027 496630 1.63 [{'connected_gene': 'MADCAM1', 'score': 554.98}, {'connected_gene': 'TMEM259', 'score': 26.36}, {'connected_gene': 'PTBP1', 'score': 24.57}, {'connected_gene': 'DAZAP1', 'score': 24.32}, {'connected_gene': 'CIRBP', 'score': 21.68}, {'connected_gene': 'MED16', 'score': 18.75}, {'connected_gene': 'LOC105372232', 'score': 13.87}, {'connected_gene': 'ENSG00000267317', 'score': 13.85}, {'connected_gene': 'SHC2', 'score': 13.25}, {'connected_gene': 'MIER2', 'score': 12.14}, {'connected_gene': 'RPS15', 'score': 11.52}, {'connected_gene': 'GRIN3B', 'score': 10.88}, {'connected_gene': 'POLRMT', 'score': 9.95}, {'connected_gene': 'TPGS1', 'score': 0.39}]
chr19 GH19I000491 491400 492401 0.96 [{'connected_gene': 'MADCAM1', 'score': 13.04}, {'connected_gene': 'C19orf25', 'score': 5.27}, {'connected_gene': 'TPGS1', 'score': 0.37}, {'connected_gene': 'LOC105372232', 'score': 0.37}]
chr19 GH19I000514 514041 515170 0.62 [{'connected_gene': 'BSG', 'score': 11.77}, {'connected_gene': 'TPGS1', 'score': 0.44}, {'connected_gene': 'LOC105372232', 'score': 0.44}, {'connected_gene': 'CDC34', 'score': 0.37}]
chr19 GH19I000510 510241 513382 1.72 [{'connected_gene': 'GZMM', 'score': 20.59}, {'connected_gene': 'TPGS1', 'score': 6.48}, {'connected_gene': 'MADCAM1', 'score': 5.61}, {'connected_gene': 'RNF126', 'score': 4.39}, {'connected_gene': 'LOC105372232', 'score': 0.77}, {'connected_gene': 'CDC34', 'score': 0.37}]
chr19 GH19I000516 516541 519840 1.34 [{'connected_gene': 'DAZAP1', 'score': 16.4}, {'connected_gene': 'TMEM259', 'score': 15.98}, {'connected_gene': 'CFD', 'score': 14.79}, {'connected_gene': 'MIER2', 'score': 12.5}, {'connected_gene': 'PTBP1', 'score': 11.95}, {'connected_gene': 'BSG', 'score': 11.78}, {'connected_gene': 'MED16', 'score': 11.44}, {'connected_gene': 'ENSG00000267317', 'score': 11.29}, {'connected_gene': 'RNF126', 'score': 10.62}, {'connected_gene': 'GRIN3B', 'score': 10.53}, {'connected_gene': 'MIDN', 'score': 10.38}, {'connected_gene': 'CNN2', 'score': 9.81}, {'connected_gene': 'TPGS1', 'score': 6.52}, {'connected_gene': 'LOC105372232', 'score': 0.39}, {'connected_gene': 'CDC34', 'score': 0.39}]
chr19 GH19I000867 867005 867400 0.69 [{'connected_gene': 'CFD', 'score': 22.93}, {'connected_gene': 'MED16', 'score': 8.78}, {'connected_gene': 'ODF3L2', 'score': 4.95}, {'connected_gene': 'ATP5F1D', 'score': 4.34}, {'connected_gene': 'GPX4', 'score': 4.21}, {'connected_gene': 'TPGS1', 'score': 3.69}, {'connected_gene': 'CNN2', 'score': 2.75}, {'connected_gene': 'POLRMT', 'score': 2.16}, {'connected_gene': 'BSG', 'score': 1.73}, {'connected_gene': 'C19orf24', 'score': 1.17}, {'connected_gene': 'PIR33777', 'score': 0.44}]
chr19 GH19I000747 747240 756590 2.13 [{'connected_gene': 'MISP', 'score': 572.73}, {'connected_gene': 'PRTN3', 'score': 13.31}, {'connected_gene': 'ELANE', 'score': 13.29}, {'connected_gene': 'CFD', 'score': 13.28}, {'connected_gene': 'FSTL3', 'score': 5.59}, {'connected_gene': 'PLPP2', 'score': 3.12}, {'connected_gene': 'TPGS1', 'score': 1.39}, {'connected_gene': 'GC19P000749', 'score': 0.77}, {'connected_gene': 'GC19P000763', 'score': 0.39}, {'connected_gene': 'PALM', 'score': 0.26}]