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
ENST00000254488 [[10857884, 10858206], [10861149, 10861284], [10861396, 10861537], [10864986, 10865077], [10885898, 10886031], [10916645, 10916780], [10953774, 10953878], [10960013, 10960138], [10967689, 10967802], [10970887, 10971025], [10974836, 10974939], [10975751, 10975852], [10976714, 10976885], [10979935, 10982419]] [[10857950, 10858206], [10861149, 10861284], [10861396, 10861537], [10864986, 10865077], [10885898, 10886031], [10916645, 10916780], [10953774, 10953878], [10960013, 10960138], [10967689, 10967802], [10970887, 10971025], [10974836, 10974939], [10975751, 10975852], [10976714, 10976885], [10979935, 10980088]]
ENST00000454147 [[10857885, 10858206], [10861149, 10861284], [10861396, 10861537], [10864986, 10867183]] [[10857950, 10858206], [10861149, 10861284], [10861396, 10861537], [10864986, 10865081]]
ENST00000464828 [[10975651, 10975852], [10976714, 10977083]] None
NM_014229 [[10857884, 10858206], [10861149, 10861284], [10861396, 10861537], [10864986, 10865077], [10885898, 10886031], [10916645, 10916780], [10953774, 10953878], [10960013, 10960138], [10967689, 10967802], [10970887, 10971025], [10974836, 10974939], [10975751, 10975852], [10976714, 10976885], [10979935, 10982419]] [[10857950, 10858206], [10861149, 10861284], [10861396, 10861537], [10864986, 10865077], [10885898, 10886031], [10916645, 10916780], [10953774, 10953878], [10960013, 10960138], [10967689, 10967802], [10970887, 10971025], [10974836, 10974939], [10975751, 10975852], [10976714, 10976885], [10979935, 10980088]]
NM_001317406 [[10857884, 10858206], [10861149, 10861284], [10861396, 10861537], [10864986, 10875477]] [[10857950, 10858206], [10861149, 10861284], [10861396, 10861537], [10864986, 10865081]]
Promoter
Chrom Start End Description
chr3 10857905 10857920 CAGE_peak_1_at_SLC6A11_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I011154 11154067 11156094 2.22 [{'connected_gene': 'HRH1', 'score': 553.37}, {'connected_gene': 'LOC105376951', 'score': 550.77}, {'connected_gene': 'SLC6A1', 'score': 5.38}, {'connected_gene': 'SLC6A11', 'score': 2.07}, {'connected_gene': 'VGLL4', 'score': 1.43}, {'connected_gene': 'LOC102723663', 'score': 0.23}]
chr3 GH03I010815 10815801 10816924 1.1 [{'connected_gene': 'SLC6A11', 'score': 550.77}, {'connected_gene': 'LOC105376950', 'score': 0.14}]
chr3 GH03I010994 10994433 10994602 0.53 [{'connected_gene': 'SLC6A1', 'score': 571.75}, {'connected_gene': 'ATP2B2', 'score': 6.4}, {'connected_gene': 'SLC6A11', 'score': 3.84}, {'connected_gene': 'SLC6A1-AS1', 'score': 0.34}]
chr3 GH03I010955 10955136 10957679 0.63 [{'connected_gene': 'SLC6A1', 'score': 11.47}, {'connected_gene': 'SLC6A1-AS1', 'score': 11.21}, {'connected_gene': 'SLC6A11', 'score': 10.29}, {'connected_gene': 'LOC105376950', 'score': 0.31}]
chr3 GH03I010803 10803321 10805537 0.56 [{'connected_gene': 'SLC6A1', 'score': 10.11}, {'connected_gene': 'SLC6A1-AS1', 'score': 10.1}, {'connected_gene': 'SLC6A11', 'score': 0.39}, {'connected_gene': 'ENSG00000230599', 'score': 0.28}]
chr3 GH03I010925 10925202 10929199 0.38 [{'connected_gene': 'LOC105376950', 'score': 550.77}, {'connected_gene': 'SLC6A11', 'score': 5.71}]
chr3 GH03I010932 10932989 10934774 0.63 [{'connected_gene': 'LOC105376950', 'score': 0.44}, {'connected_gene': 'SLC6A1', 'score': 0.22}, {'connected_gene': 'SLC6A11', 'score': 0.13}]
chr3 GH03I010770 10770879 10772799 0.65 [{'connected_gene': 'ENSG00000230599', 'score': 0.77}, {'connected_gene': 'SLC6A11', 'score': 0.26}]
chr3 GH03I010780 10780316 10780485 0.49 [{'connected_gene': 'ENSG00000230599', 'score': 0.39}, {'connected_gene': 'SLC6A11', 'score': 0.28}]