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
ENST00000280605 [[164392256, 164395047]] [[164393005, 164394886]]
NM_032136 [[164392246, 164395047]] [[164393005, 164394886]]
Promoter
Chrom Start End Description
chr4 164394549 164394561 CAGE_peak_6_at_TKTL2_5end
chr4 164394882 164394937 CAGE_peak_1_at_TKTL2_5end
chr4 164394940 164394953 CAGE_peak_2_at_TKTL2_5end
chr4 164394959 164394967 CAGE_peak_4_at_TKTL2_5end
chr4 164395014 164395047 CAGE_peak_3_at_TKTL2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I163481 163481769 163483079 0.4 [{'connected_gene': 'TKTL2', 'score': 0.44}, {'connected_gene': 'TMA16', 'score': 0.39}]
chr4 GH04I163571 163571051 163571276 0.22 [{'connected_gene': 'TKTL2', 'score': 10.35}, {'connected_gene': 'MARCH1', 'score': 6.15}, {'connected_gene': 'NAF1', 'score': 4.08}, {'connected_gene': 'ENSG00000273449', 'score': 0.26}, {'connected_gene': 'PIR37872', 'score': 0.07}]
chr4 GH04I163568 163568552 163569698 0.31 [{'connected_gene': 'TKTL2', 'score': 10.35}, {'connected_gene': 'ENSG00000273449', 'score': 0.28}, {'connected_gene': 'PIR37872', 'score': 0.07}, {'connected_gene': 'MARCH1', 'score': 0.03}]
chr4 GH04I163473 163473744 163473803 0.76 [{'connected_gene': 'TKTL2', 'score': 550.77}, {'connected_gene': 'RPL35AP12', 'score': 0.16}]
chr4 GH04I163543 163543051 163543198 0.26 [{'connected_gene': 'TMA16', 'score': 12.32}, {'connected_gene': 'TKTL2', 'score': 10.7}, {'connected_gene': 'MARCH1', 'score': 2.36}, {'connected_gene': 'NPY5R', 'score': 2.31}, {'connected_gene': 'NPY1R', 'score': 1.94}, {'connected_gene': 'ENSG00000273449', 'score': 0.39}, {'connected_gene': 'PIR37872', 'score': 0.06}]
chr4 GH04I163484 163484949 163485098 0.65 [{'connected_gene': 'TMA16', 'score': 0.44}, {'connected_gene': 'TKTL2', 'score': 0.39}]
chr4 GH04I163493 163493060 163496419 2.35 [{'connected_gene': 'TMA16', 'score': 553.1}, {'connected_gene': 'MARCH1', 'score': 47.28}, {'connected_gene': 'ENSG00000273449', 'score': 8.92}, {'connected_gene': 'TKTL2', 'score': 1.55}]
chr4 GH04I163550 163550001 163550800 1.39 [{'connected_gene': 'MARCH1', 'score': 19.86}, {'connected_gene': 'TMA16', 'score': 12.37}, {'connected_gene': 'TKTL2', 'score': 10.59}, {'connected_gene': 'ENSG00000273449', 'score': 0.34}, {'connected_gene': 'PIR37872', 'score': 0.07}]
chr4 GH04I163540 163540565 163542395 0.43 [{'connected_gene': 'MARCH1', 'score': 53.23}, {'connected_gene': 'TMA16', 'score': 12.32}, {'connected_gene': 'TKTL2', 'score': 10.7}, {'connected_gene': 'ENSG00000273449', 'score': 0.39}, {'connected_gene': 'PIR37872', 'score': 0.06}]
chr4 GH04I163535 163535774 163536756 0.51 [{'connected_gene': 'MARCH1', 'score': 47.68}, {'connected_gene': 'TMA16', 'score': 12.28}, {'connected_gene': 'TKTL2', 'score': 10.68}, {'connected_gene': 'ENSG00000273449', 'score': 0.44}, {'connected_gene': 'PIR37872', 'score': 0.06}]
chr4 GH04I163544 163544201 163545639 1.08 [{'connected_gene': 'MARCH1', 'score': 48.75}, {'connected_gene': 'TMA16', 'score': 12.31}, {'connected_gene': 'TKTL2', 'score': 10.57}, {'connected_gene': 'ENSG00000273449', 'score': 0.37}, {'connected_gene': 'PIR37872', 'score': 0.06}]
chr4 GH04I163415 163415420 163416667 0.43 [{'connected_gene': 'RPL35AP12', 'score': 0.29}, {'connected_gene': 'TKTL2', 'score': 0.22}]
chr4 GH04I163528 163528033 163529942 0.2 [{'connected_gene': 'ENSG00000273449', 'score': 550.77}, {'connected_gene': 'MARCH1', 'score': 48.78}, {'connected_gene': 'TKTL2', 'score': 10.87}, {'connected_gene': 'TMA16', 'score': 5.6}]