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
ENST00000444948 [[149754226, 149754330], [149759921, 149760173], [149761609, 149761894], [149762792, 149762946]] [[149754299, 149754330], [149759921, 149760173], [149761609, 149761894], [149762792, 149762946]]
ENST00000369168 [[149754245, 149754330], [149754725, 149754746], [149755558, 149755813], [149759921, 149760173], [149761609, 149761894], [149762792, 149764074]] [[149754299, 149754330], [149754725, 149754746], [149755558, 149755813], [149759921, 149760173], [149761609, 149761894], [149762792, 149763073]]
ENST00000489479 [[149754283, 149754330], [149754725, 149755507]] None
ENST00000489704 [[149761923, 149761961], [149762792, 149763231]] None
NM_000566 [[149754249, 149754330], [149754725, 149754746], [149755558, 149755813], [149759921, 149760173], [149761609, 149761894], [149762792, 149764074]] [[149754299, 149754330], [149754725, 149754746], [149755558, 149755813], [149759921, 149760173], [149761609, 149761894], [149762792, 149763073]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I149785 149785201 149786000 0.2 [{'connected_gene': 'SV2A', 'score': 5.79}, {'connected_gene': 'FCGR1A', 'score': 0.77}, {'connected_gene': 'ENSG00000233030', 'score': 0.44}, {'connected_gene': 'HIST2H2BF', 'score': 0.31}]
chr1 GH01I149775 149775401 149776443 0.75 [{'connected_gene': 'SV2A', 'score': 13.54}, {'connected_gene': 'FCGR1A', 'score': 0.44}, {'connected_gene': 'TRR-CCT8-1', 'score': 0.37}, {'connected_gene': 'HIST2H2BF', 'score': 0.28}]
chr1 GH01I149771 149771401 149771800 0.2 [{'connected_gene': 'SV2A', 'score': 13.39}, {'connected_gene': 'FCGR1A', 'score': 0.44}, {'connected_gene': 'TRR-CCT8-1', 'score': 0.39}, {'connected_gene': 'HIST2H2BF', 'score': 0.26}]
chr1 GH01I149781 149781601 149781800 0.2 [{'connected_gene': 'FCGR1A', 'score': 550.77}, {'connected_gene': 'ENSG00000233030', 'score': 0.39}, {'connected_gene': 'HIST2H2BF', 'score': 0.29}]
chr1 GH01I149782 149782201 149784600 0.7 [{'connected_gene': 'FCGR1A', 'score': 550.77}, {'connected_gene': 'ENSG00000233030', 'score': 0.44}, {'connected_gene': 'HIST2H2BF', 'score': 0.31}]
chr1 GH01I149772 149772200 149772600 0.2 [{'connected_gene': 'FCGR1A', 'score': 0.44}, {'connected_gene': 'TRR-CCT8-1', 'score': 0.37}, {'connected_gene': 'HIST2H2BF', 'score': 0.26}]
chr1 GH01I149746 149746601 149747266 0.58 [{'connected_gene': 'LOC102723955', 'score': 12.44}, {'connected_gene': 'FCGR1A', 'score': 7.98}, {'connected_gene': 'GC01M149741', 'score': 0.44}, {'connected_gene': 'TRN-GTT8-1', 'score': 0.44}]
chr1 GH01I149768 149768801 149770000 0.2 [{'connected_gene': 'TRR-CCT8-1', 'score': 0.39}, {'connected_gene': 'FCGR1A', 'score': 0.39}, {'connected_gene': 'HIST2H2BF', 'score': 0.26}]
chr1 GH01I149792 149792065 149793401 1.31 [{'connected_gene': 'ENSG00000233030', 'score': 550.77}, {'connected_gene': 'SV2A', 'score': 15.42}, {'connected_gene': 'SF3B4', 'score': 10.34}, {'connected_gene': 'FCGR1A', 'score': 0.39}, {'connected_gene': 'HIST2H2BF', 'score': 0.34}]
chr1 GH01I149787 149787401 149789000 0.66 [{'connected_gene': 'ENSG00000233030', 'score': 0.77}, {'connected_gene': 'FCGR1A', 'score': 0.44}, {'connected_gene': 'HIST2H2BF', 'score': 0.34}]