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
ENST00000358935 [[94050919, 94051286], [94070891, 94071094], [94100429, 94100560], [94109105, 94109289], [94109427, 94109594], [94110847, 94113721]] [[94051251, 94051286], [94070891, 94071094], [94100429, 94100560], [94109105, 94109289], [94109427, 94109594], [94110847, 94110964]]
ENST00000492319 [[94109237, 94109289], [94109427, 94110055]] None
ENST00000467521 [[94068234, 94068360], [94070891, 94071094], [94100429, 94100560], [94109105, 94109289], [94109427, 94109532]] None
ENST00000462465 [[94093263, 94093382], [94100429, 94100560], [94109105, 94109180]] None
NM_017824 [[94050919, 94051286], [94070891, 94071094], [94100429, 94100560], [94109105, 94109289], [94109427, 94109594], [94110847, 94113721]] [[94051251, 94051286], [94070891, 94071094], [94100429, 94100560], [94109105, 94109289], [94109427, 94109594], [94110847, 94110964]]
Promoter
Chrom Start End Description
chr10 94050913 94050965 CAGE_peak_1_at_MARCH5_5end
chr10 94050966 94050971 CAGE_peak_5_at_MARCH5_5end
chr10 94051039 94051050 CAGE_peak_3_at_MARCH5_5end
chr10 94051055 94051085 CAGE_peak_2_at_MARCH5_5end
chr10 94051095 94051111 CAGE_peak_4_at_MARCH5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I092754 92754239 92758466 1.94 [{'connected_gene': 'BTAF1', 'score': 43.86}, {'connected_gene': 'RPL17P34', 'score': 31.97}, {'connected_gene': 'PDE6C', 'score': 12.09}, {'connected_gene': 'TNKS2', 'score': 9.78}, {'connected_gene': 'MARK2P9', 'score': 6.0}, {'connected_gene': 'EXOC6', 'score': 2.84}, {'connected_gene': 'MARCH5', 'score': 2.78}, {'connected_gene': 'HHEX', 'score': 2.63}, {'connected_gene': 'GC10P092747', 'score': 0.44}, {'connected_gene': 'GC10M092781', 'score': 0.31}]
chr10 GH10I092314 92314302 92314651 0.22 [{'connected_gene': 'BTAF1', 'score': 6.9}, {'connected_gene': 'GC10P092304', 'score': 0.44}, {'connected_gene': 'GC10P092335', 'score': 0.37}, {'connected_gene': 'MARCH5', 'score': 0.34}, {'connected_gene': 'GC10M092263', 'score': 0.14}]
chr10 GH10I092115 92115001 92115400 0.31 [{'connected_gene': 'BTAF1', 'score': 19.8}, {'connected_gene': 'CPEB3', 'score': 18.67}, {'connected_gene': 'ENSG00000252993', 'score': 11.11}, {'connected_gene': 'MARCH5', 'score': 10.72}, {'connected_gene': 'EXOC6', 'score': 4.3}, {'connected_gene': 'SDHCP2', 'score': 0.77}, {'connected_gene': 'GC10M092115', 'score': 0.39}]
chr10 GH10I092087 92087601 92088201 1.12 [{'connected_gene': 'BTAF1', 'score': 22.31}, {'connected_gene': 'CPEB3', 'score': 11.88}, {'connected_gene': 'MARCH5', 'score': 11.88}, {'connected_gene': 'ENSG00000252993', 'score': 0.39}, {'connected_gene': 'SDHCP2', 'score': 0.29}]
chr10 GH10I092833 92833437 92835699 1.69 [{'connected_gene': 'EXOC6', 'score': 550.77}, {'connected_gene': 'KIF11', 'score': 10.75}, {'connected_gene': 'IDE', 'score': 10.75}, {'connected_gene': 'MARCH5', 'score': 3.92}, {'connected_gene': 'GC10M092798', 'score': 0.31}]
chr10 GH10I092590 92590278 92595748 2.45 [{'connected_gene': 'KIF11', 'score': 555.88}, {'connected_gene': 'GC10P092594', 'score': 550.77}, {'connected_gene': 'GC10P092595', 'score': 550.77}, {'connected_gene': 'BTAF1', 'score': 37.29}, {'connected_gene': 'TNKS2', 'score': 24.39}, {'connected_gene': 'RPL17P34', 'score': 14.12}, {'connected_gene': 'MYOF', 'score': 10.55}, {'connected_gene': 'EIF2S2P3', 'score': 7.39}, {'connected_gene': 'TNKS2-AS1', 'score': 4.31}, {'connected_gene': 'CPEB3', 'score': 2.15}, {'connected_gene': 'MARCH5', 'score': 1.26}, {'connected_gene': 'GC10M092594', 'score': 0.77}, {'connected_gene': 'IDE', 'score': 0.37}]
chr10 GH10I092327 92327128 92331102 0.77 [{'connected_gene': 'CPEB3', 'score': 10.51}, {'connected_gene': 'BTAF1', 'score': 7.81}, {'connected_gene': 'GC10P092335', 'score': 0.44}, {'connected_gene': 'GC10P092304', 'score': 0.34}, {'connected_gene': 'MARCH5', 'score': 0.28}, {'connected_gene': 'GC10M092263', 'score': 0.15}]
chr10 GH10I092238 92238001 92242010 2 [{'connected_gene': 'CPEB3', 'score': 579.03}, {'connected_gene': 'MARCH5', 'score': 12.08}, {'connected_gene': 'BTAF1', 'score': 7.63}, {'connected_gene': 'NHP2P1', 'score': 0.34}, {'connected_gene': 'ENSG00000199881', 'score': 0.29}]
chr10 GH10I092289 92289979 92293299 2.07 [{'connected_gene': 'CPEB3', 'score': 565.17}, {'connected_gene': 'MARCH5', 'score': 550.77}, {'connected_gene': 'NHP2P1', 'score': 4.32}, {'connected_gene': 'BTAF1', 'score': 4.0}, {'connected_gene': 'GC10P092304', 'score': 0.39}, {'connected_gene': 'GC10M092263', 'score': 0.12}]
chr10 GH10I092114 92114324 92114493 0.83 [{'connected_gene': 'CPEB3', 'score': 19.09}, {'connected_gene': 'ENSG00000252993', 'score': 11.11}, {'connected_gene': 'MARCH5', 'score': 10.72}, {'connected_gene': 'NHP2P1', 'score': 4.45}, {'connected_gene': 'SDHCP2', 'score': 0.77}]
chr10 GH10I092116 92114044 92114193 0.54 [{'connected_gene': 'CPEB3', 'score': 19.09}, {'connected_gene': 'ENSG00000252993', 'score': 11.11}, {'connected_gene': 'MARCH5', 'score': 10.72}, {'connected_gene': 'SDHCP2', 'score': 0.77}]
chr10 GH10I092100 92100875 92102589 1.14 [{'connected_gene': 'CPEB3', 'score': 15.48}, {'connected_gene': 'MARCH5', 'score': 11.53}, {'connected_gene': 'ENSG00000252993', 'score': 11.02}, {'connected_gene': 'SDHCP2', 'score': 0.37}]
chr10 GH10I092304 92304735 92306558 0.43 [{'connected_gene': 'GC10P092304', 'score': 550.77}, {'connected_gene': 'BTAF1', 'score': 9.01}, {'connected_gene': 'EXOC6', 'score': 4.68}, {'connected_gene': 'MARCH5', 'score': 0.39}, {'connected_gene': 'GC10P092335', 'score': 0.31}, {'connected_gene': 'GC10M092263', 'score': 0.13}]
chr10 GH10I092307 92307038 92307349 0.38 [{'connected_gene': 'GC10P092304', 'score': 0.77}, {'connected_gene': 'MARCH5', 'score': 0.37}, {'connected_gene': 'GC10P092335', 'score': 0.31}, {'connected_gene': 'GC10M092263', 'score': 0.13}]
chr10 GH10I092112 92112664 92112813 0.38 [{'connected_gene': 'ENSG00000252993', 'score': 11.11}, {'connected_gene': 'CPEB3', 'score': 10.72}, {'connected_gene': 'MARCH5', 'score': 10.72}, {'connected_gene': 'SDHCP2', 'score': 0.44}]