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
ENST00000361820 [[104331634, 104335795], [104340049, 104340126], [104341477, 104341642], [104375657, 104375809], [104385599, 104385715], [104390537, 104390683], [104432341, 104433389], [104448877, 104449482], [104499562, 104500862]] [[104335455, 104335795], [104340049, 104340126], [104341477, 104341642], [104375657, 104375809], [104385599, 104385715], [104390537, 104390683], [104432341, 104433389], [104448877, 104449482], [104499562, 104500261]]
ENST00000479772 [[104363130, 104363398], [104365233, 104365316], [104375657, 104375804]] None
NM_133445 [[104331633, 104335795], [104340049, 104340126], [104341477, 104341642], [104375657, 104375809], [104385599, 104385715], [104390537, 104390683], [104432341, 104433389], [104448877, 104449482], [104499562, 104500862]] [[104335455, 104335795], [104340049, 104340126], [104341477, 104341642], [104375657, 104375809], [104385599, 104385715], [104390537, 104390683], [104432341, 104433389], [104448877, 104449482], [104499562, 104500261]]
Promoter
Chrom Start End Description
chr9 104500922 104500940 CAGE_peak_1_at_GRIN3A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I101569 101569397 101570711 0.52 [{'connected_gene': 'TMEM246', 'score': 10.92}, {'connected_gene': 'RNF20', 'score': 10.92}, {'connected_gene': 'PPP3R2', 'score': 10.92}, {'connected_gene': 'PIR43226', 'score': 0.34}, {'connected_gene': 'GRIN3A', 'score': 0.1}]
chr9 GH09I101594 101594959 101595018 0.5 [{'connected_gene': 'PPP3R2', 'score': 550.77}, {'connected_gene': 'PIR59715', 'score': 550.77}, {'connected_gene': 'PIR43226', 'score': 550.77}, {'connected_gene': 'LOC105376186', 'score': 550.77}, {'connected_gene': 'GC09P101598', 'score': 550.77}, {'connected_gene': 'PIR31501', 'score': 550.77}, {'connected_gene': 'GRIN3A', 'score': 0.11}]
chr9 GH09I101673 101673199 101674550 0.31 [{'connected_gene': 'GRIN3A', 'score': 10.49}, {'connected_gene': 'PPP3R2', 'score': 10.4}, {'connected_gene': 'TMEM246-AS1', 'score': 5.05}, {'connected_gene': 'GC09P101627', 'score': 0.25}]
chr9 GH09I101716 101716258 101717541 0.31 [{'connected_gene': 'GRIN3A', 'score': 12.68}, {'connected_gene': 'TMEM246-AS1', 'score': 5.99}, {'connected_gene': 'GC09P101627', 'score': 0.17}]
chr9 GH09I101738 101738637 101738696 0.79 [{'connected_gene': 'GRIN3A', 'score': 550.77}, {'connected_gene': 'MTND3P4', 'score': 0.22}]
chr9 GH09I101704 101704897 101705801 0.58 [{'connected_gene': 'GRIN3A', 'score': 11.29}, {'connected_gene': 'GC09P101627', 'score': 0.18}]
chr9 GH09I101739 101738153 101738212 0.84 [{'connected_gene': 'GRIN3A', 'score': 550.77}, {'connected_gene': 'GC09P101627', 'score': 0.14}]
chr9 GH09I101585 101585401 101586400 0.2 [{'connected_gene': 'PIR43226', 'score': 0.44}, {'connected_gene': 'RNF20', 'score': 0.23}, {'connected_gene': 'GRIN3A', 'score': 0.1}]
chr9 GH09I101582 101582699 101582848 0.38 [{'connected_gene': 'PIR43226', 'score': 0.39}, {'connected_gene': 'RNF20', 'score': 0.25}, {'connected_gene': 'GRIN3A', 'score': 0.1}]