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
ENST00000380916 [[14611068, 14619096], [14619636, 14619680], [14639893, 14640010], [14658746, 14658885], [14662212, 14662324], [14672827, 14672926], [14674184, 14674383], [14680030, 14680160], [14690334, 14690383], [14693226, 14693469]] [[14618963, 14619096], [14619636, 14619680], [14639893, 14640010], [14658746, 14658885], [14662212, 14662324], [14672827, 14672926], [14674184, 14674338]]
ENST00000497966 [[14677363, 14677470], [14680030, 14680160], [14683568, 14683727], [14690334, 14690383], [14693226, 14693263]] None
NM_178566 [[14611068, 14619096], [14619636, 14619680], [14639893, 14640010], [14658746, 14658885], [14662212, 14662324], [14672827, 14672926], [14674184, 14674383], [14680030, 14680160], [14690334, 14690383], [14693226, 14693480]] [[14618963, 14619096], [14619636, 14619680], [14639893, 14640010], [14658746, 14658885], [14662212, 14662324], [14672827, 14672926], [14674184, 14674338]]
Promoter
Chrom Start End Description
chr9 14640303 14640306 CAGE_peak_7_at_ZDHHC21_5end
chr9 14674313 14674355 CAGE_peak_8_at_ZDHHC21_5end
chr9 14693248 14693413 CAGE_peak_1_at_ZDHHC21_5end
chr9 14693417 14693437 CAGE_peak_2_at_ZDHHC21_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I014306 14306125 14324469 3.2 [{'connected_gene': 'NFIB', 'score': 562.52}, {'connected_gene': 'ENSG00000225472', 'score': 550.77}, {'connected_gene': 'GC09P014316', 'score': 550.77}, {'connected_gene': 'ZDHHC21', 'score': 16.87}, {'connected_gene': 'CDCA4P1', 'score': 13.83}, {'connected_gene': 'GC09P014255', 'score': 0.22}]
chr9 GH09I014400 14400041 14401459 1.06 [{'connected_gene': 'NFIB', 'score': 558.01}, {'connected_gene': 'ZDHHC21', 'score': 2.35}, {'connected_gene': 'GC09P014417', 'score': 0.37}]
chr9 GH09I014342 14342843 14354211 1.99 [{'connected_gene': 'NFIB', 'score': 19.17}, {'connected_gene': 'ENSG00000225472', 'score': 12.25}, {'connected_gene': 'ZDHHC21', 'score': 1.46}, {'connected_gene': 'GC09P014354', 'score': 0.44}]
chr9 GH09I013979 13979337 13980114 0.85 [{'connected_gene': 'ZDHHC21', 'score': 11.63}, {'connected_gene': 'PES1P2', 'score': 0.44}, {'connected_gene': 'LINC00583', 'score': 0.23}, {'connected_gene': 'LOC101929507', 'score': 0.23}]
chr9 GH09I014749 14749646 14753043 0.31 [{'connected_gene': 'ZDHHC21', 'score': 15.94}, {'connected_gene': 'CER1', 'score': 11.07}, {'connected_gene': 'LOC105375979', 'score': 0.31}, {'connected_gene': 'FREM1', 'score': 0.1}]
chr9 GH09I014729 14729875 14731579 0.31 [{'connected_gene': 'ZDHHC21', 'score': 18.66}, {'connected_gene': 'CER1', 'score': 9.08}, {'connected_gene': 'ENSG00000272871', 'score': 4.83}, {'connected_gene': 'LOC105375979', 'score': 0.25}]
chr9 GH09I014768 14768401 14768853 0.76 [{'connected_gene': 'ZDHHC21', 'score': 10.93}, {'connected_gene': 'RNU6-1260P', 'score': 10.48}, {'connected_gene': 'LOC105375979', 'score': 0.39}, {'connected_gene': 'CER1', 'score': 0.25}, {'connected_gene': 'FREM1', 'score': 0.11}]
chr9 GH09I014575 14575438 14575691 0.22 [{'connected_gene': 'ZDHHC21', 'score': 2.05}, {'connected_gene': 'ENSG00000273399', 'score': 0.39}, {'connected_gene': 'ENSG00000237137', 'score': 0.26}]
chr9 GH09I014692 14692400 14694032 1.93 [{'connected_gene': 'ZDHHC21', 'score': 581.84}, {'connected_gene': 'GC09M014689', 'score': 0.77}]
chr9 GH09I014745 14745670 14747901 0.38 [{'connected_gene': 'CER1', 'score': 19.54}, {'connected_gene': 'ZDHHC21', 'score': 7.08}, {'connected_gene': 'ENSG00000272871', 'score': 4.97}, {'connected_gene': 'LOC105375979', 'score': 0.29}, {'connected_gene': 'FREM1', 'score': 0.1}]
chr9 GH09I014868 14868816 14869522 0.88 [{'connected_gene': 'FREM1', 'score': 6.5}, {'connected_gene': 'ZDHHC21', 'score': 4.84}, {'connected_gene': 'RNU6-1260P', 'score': 0.37}]
chr9 GH09I014029 14029037 14032897 1.05 [{'connected_gene': 'LOC101929507', 'score': 550.77}, {'connected_gene': 'CDCA4P1', 'score': 13.79}, {'connected_gene': 'MPDZ', 'score': 13.49}, {'connected_gene': 'ZDHHC21', 'score': 11.92}, {'connected_gene': 'ENSG00000235533', 'score': 0.77}]
chr9 GH09I014209 14209397 14209642 1.25 [{'connected_gene': 'CDCA4P1', 'score': 45.22}, {'connected_gene': 'ZDHHC21', 'score': 28.03}, {'connected_gene': 'MPDZ', 'score': 13.72}, {'connected_gene': 'ENSG00000272871', 'score': 11.46}, {'connected_gene': 'RPL7AP47', 'score': 0.44}, {'connected_gene': 'GC09P014255', 'score': 0.25}, {'connected_gene': 'NFIB', 'score': 0.09}]
chr9 GH09I013704 13704754 13708843 0.96 [{'connected_gene': 'CDCA4P1', 'score': 20.28}, {'connected_gene': 'ZDHHC21', 'score': 16.84}, {'connected_gene': 'MPDZ', 'score': 10.94}, {'connected_gene': 'ENSG00000273399', 'score': 9.8}, {'connected_gene': 'GC09P013786', 'score': 0.18}, {'connected_gene': 'GC09P013560', 'score': 0.11}]
chr9 GH09I014432 14432543 14434794 1.02 [{'connected_gene': 'TRH-GTG1-6', 'score': 550.77}, {'connected_gene': 'GC09P014433', 'score': 550.77}, {'connected_gene': 'CDCA4P1', 'score': 16.17}, {'connected_gene': 'ZDHHC21', 'score': 14.36}, {'connected_gene': 'SNAPC3', 'score': 11.76}]
chr9 GH09I014687 14687798 14689221 0.64 [{'connected_gene': 'GC09M014689', 'score': 550.77}, {'connected_gene': 'ZDHHC21', 'score': 24.9}, {'connected_gene': 'ENSG00000272871', 'score': 22.74}, {'connected_gene': 'PIR45304', 'score': 0.2}]
chr9 GH09I014554 14554361 14556064 0.46 [{'connected_gene': 'ENSG00000237137', 'score': 0.34}, {'connected_gene': 'ENSG00000273399', 'score': 0.29}, {'connected_gene': 'ZDHHC21', 'score': 0.12}]
chr9 GH09I014690 14690453 14691348 0.43 [{'connected_gene': 'GC09M014689', 'score': 550.77}, {'connected_gene': 'ZDHHC21', 'score': 25.06}]
chr9 GH09I014691 14691403 14691552 0.31 [{'connected_gene': 'GC09M014689', 'score': 550.77}, {'connected_gene': 'ZDHHC21', 'score': 0.77}]
chr9 GH09I014561 14561870 14562505 0.59 [{'connected_gene': 'ENSG00000273399', 'score': 0.31}, {'connected_gene': 'ENSG00000237137', 'score': 0.29}, {'connected_gene': 'ZDHHC21', 'score': 0.12}]
chr9 GH09I014688 14687123 14687272 0.43 [{'connected_gene': 'GC09M014689', 'score': 0.77}, {'connected_gene': 'ZDHHC21', 'score': 0.44}, {'connected_gene': 'PIR45304', 'score': 0.2}]