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
ENST00000285419 [[92006023, 92008048], [92008881, 92008972], [92020970, 92021023], [92030617, 92030741], [92032384, 92032491], [92033483, 92033632], [92052871, 92053292]] [[92007904, 92008048], [92008881, 92008972], [92020970, 92021023], [92030617, 92030741], [92032384, 92032491], [92033483, 92033632], [92052871, 92052977]]
ENST00000520709 [[92007751, 92008048], [92008881, 92008972], [92020970, 92021023], [92052871, 92053079]] [[92008957, 92008972], [92020970, 92021023], [92052871, 92052977]]
ENST00000518359 [[92007820, 92008048], [92008881, 92008972], [92030617, 92030741], [92032384, 92032491], [92033483, 92033632], [92052871, 92053039]] [[92008957, 92008972], [92030617, 92030741], [92032384, 92032491], [92033483, 92033632], [92052871, 92052977]]
ENST00000520014 [[92007944, 92008048], [92008881, 92008972], [92020970, 92021023], [92030617, 92030741], [92032384, 92032491], [92033483, 92033650], [92052871, 92053063]] [[92007944, 92008048], [92008881, 92008972], [92020970, 92021023], [92030617, 92030741], [92032384, 92032491], [92033483, 92033650], [92052871, 92052977]]
ENST00000518869 [[92008038, 92008048], [92008881, 92008972], [92020970, 92021023], [92030617, 92030741], [92032384, 92032491], [92033483, 92033632], [92036516, 92036594], [92052871, 92053100]] [[92036529, 92036594], [92052871, 92052977]]
Promoter
Chrom Start End Description
chr8 92052987 92052996 CAGE_peak_5_at_TMEM55A_5end
chr8 92053029 92053040 CAGE_peak_4_at_TMEM55A_5end
chr8 92053042 92053126 CAGE_peak_1_at_TMEM55A_5end
chr8 92053191 92053206 CAGE_peak_3_at_TMEM55A_5end
chr8 92053212 92053231 CAGE_peak_2_at_TMEM55A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I091038 91037994 91042295 2 [{'connected_gene': 'PIP4P2', 'score': 550.77}, {'connected_gene': 'OTUD6B-AS1', 'score': 12.18}, {'connected_gene': 'SLC26A7', 'score': 7.8}, {'connected_gene': 'LRRC69', 'score': 7.54}, {'connected_gene': 'LOC105375634', 'score': 4.96}, {'connected_gene': 'ENSG00000253358', 'score': 0.34}]
chr8 GH08I091027 91027293 91027422 0.38 [{'connected_gene': 'PIP4P2', 'score': 0.39}, {'connected_gene': 'ENSG00000253358', 'score': 0.39}]
chr8 GH08I091033 91033681 91033699 0.22 [{'connected_gene': 'PIP4P2', 'score': 4.57}, {'connected_gene': 'ENSG00000253358', 'score': 0.37}]
chr8 GH08I091039 91033401 91033600 0.2 [{'connected_gene': 'SLC26A7', 'score': 7.79}, {'connected_gene': 'PIP4P2', 'score': 0.44}, {'connected_gene': 'ENSG00000253358', 'score': 0.37}]
chr8 GH08I091037 91037493 91037622 0.38 [{'connected_gene': 'SLC26A7', 'score': 7.79}, {'connected_gene': 'PIP4P2', 'score': 0.77}, {'connected_gene': 'ENSG00000253358', 'score': 0.34}]
chr8 GH08I091036 91036293 91036964 0.31 [{'connected_gene': 'OTUD6B-AS1', 'score': 4.21}, {'connected_gene': 'PIP4P2', 'score': 0.77}, {'connected_gene': 'ENSG00000253358', 'score': 0.34}]
chr8 GH08I091032 91032001 91032800 0.83 [{'connected_gene': 'OTUD6B-AS1', 'score': 6.58}, {'connected_gene': 'PIP4P2', 'score': 0.44}, {'connected_gene': 'ENSG00000253358', 'score': 0.37}]
chr8 GH08I091034 91033801 91034872 0.51 [{'connected_gene': 'OTUD6B-AS1', 'score': 12.17}, {'connected_gene': 'LRRC69', 'score': 5.55}, {'connected_gene': 'PIP4P2', 'score': 0.44}, {'connected_gene': 'ENSG00000253358', 'score': 0.37}]
chr8 GH08I091035 91035601 91036000 0.2 [{'connected_gene': 'LRRC69', 'score': 4.97}, {'connected_gene': 'PIP4P2', 'score': 0.44}, {'connected_gene': 'ENSG00000253358', 'score': 0.37}]