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
ENST00000335288 [[114303118, 114303850], [114304720, 114304822], [114305985, 114306042], [114307187, 114307387], [114307635, 114307749], [114309128, 114309257], [114312347, 114312501]] [[114303688, 114303850], [114304720, 114304822], [114305985, 114306042], [114307187, 114307387], [114307635, 114307749], [114309128, 114309257], [114312347, 114312459]]
NM_000705 [[114303118, 114303850], [114304720, 114304822], [114305985, 114306042], [114307187, 114307387], [114307635, 114307749], [114309128, 114309257], [114312347, 114312513]] [[114303688, 114303850], [114304720, 114304822], [114305985, 114306042], [114307187, 114307387], [114307635, 114307749], [114309128, 114309257], [114312347, 114312459]]
Promoter
Chrom Start End Description
chr13 114312512 114312513 CAGE_peak_1_at_ATP4B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I113652 113651297 113651828 0.2 [{'connected_gene': 'GRK1', 'score': 17.72}, {'connected_gene': 'DCUN1D2', 'score': 9.16}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.15}, {'connected_gene': 'PIR44469', 'score': 0.77}, {'connected_gene': 'GC13P113655', 'score': 0.77}, {'connected_gene': 'ATP4B', 'score': 0.44}, {'connected_gene': 'PIR60549', 'score': 0.22}]
chr13 GH13I113650 113650302 113651009 0.38 [{'connected_gene': 'GRK1', 'score': 15.25}, {'connected_gene': 'DCUN1D2', 'score': 9.16}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.15}, {'connected_gene': 'PIR44469', 'score': 0.77}, {'connected_gene': 'GC13P113655', 'score': 0.77}, {'connected_gene': 'ATP4B', 'score': 0.44}, {'connected_gene': 'PIR60549', 'score': 0.22}]
chr13 GH13I113664 113664846 113664995 0.31 [{'connected_gene': 'GRK1', 'score': 0.77}, {'connected_gene': 'ATP4B', 'score': 0.44}]
chr13 GH13I113656 113656983 113658953 0.93 [{'connected_gene': 'ATP4B', 'score': 550.77}, {'connected_gene': 'GRK1', 'score': 8.77}, {'connected_gene': 'TMEM255B', 'score': 5.05}, {'connected_gene': 'TMCO3', 'score': 4.81}, {'connected_gene': 'LINC00552', 'score': 4.71}, {'connected_gene': 'PIR44469', 'score': 0.77}, {'connected_gene': 'GC13P113655', 'score': 0.77}]
chr13 GH13I113651 113651903 113652631 0.2 [{'connected_gene': 'TMEM255B', 'score': 18.35}, {'connected_gene': 'PIR44469', 'score': 0.77}, {'connected_gene': 'GC13P113655', 'score': 0.77}, {'connected_gene': 'ATP4B', 'score': 0.44}, {'connected_gene': 'PIR60549', 'score': 0.22}]
chr13 GH13I113653 113653426 113654001 0.46 [{'connected_gene': 'PIR44469', 'score': 550.77}, {'connected_gene': 'GC13P113655', 'score': 550.77}, {'connected_gene': 'TMCO3', 'score': 4.84}, {'connected_gene': 'ATP4B', 'score': 0.77}, {'connected_gene': 'PIR60549', 'score': 0.21}]