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
ENST00000381844 [[9724100, 9725474], [9727542, 9727638], [9728293, 9728457], [9731520, 9731644], [9770287, 9770745]] [[9725414, 9725474], [9727542, 9727638], [9728293, 9728457], [9731520, 9731644], [9770287, 9770581]]
ENST00000238081 [[9724100, 9725474], [9727542, 9727638], [9728293, 9728457], [9731520, 9731644], [9770287, 9770663], [9771069, 9771143]] [[9725414, 9725474], [9727542, 9727638], [9728293, 9728457], [9731520, 9731644], [9770287, 9770581]]
ENST00000474715 [[9725209, 9725474], [9727542, 9727638], [9728293, 9728457], [9731520, 9731644], [9760770, 9760830]] None
ENST00000446619 [[9728426, 9728457], [9731520, 9731644], [9770287, 9770663], [9770941, 9771075]] [[9728426, 9728457], [9731520, 9731644], [9770287, 9770581]]
ENST00000460093 [[9768831, 9769066], [9770287, 9770397]] None
NM_006826 [[9724095, 9725474], [9727542, 9727638], [9728293, 9728457], [9731520, 9731644], [9770287, 9770663], [9771069, 9771184]] [[9725414, 9725474], [9727542, 9727638], [9728293, 9728457], [9731520, 9731644], [9770287, 9770581]]
Promoter
Chrom Start End Description
chr2 9770323 9770336 CAGE_peak_7_at_YWHAQ_5end
chr2 9770391 9770407 CAGE_peak_3_at_YWHAQ_5end
chr2 9770412 9770425 CAGE_peak_6_at_YWHAQ_5end
chr2 9770571 9770678 CAGE_peak_2_at_YWHAQ_5end
chr2 9770706 9770753 CAGE_peak_5_at_YWHAQ_5end
chr2 9770769 9770779 CAGE_peak_10_at_YWHAQ_5end
chr2 9770911 9770933 CAGE_peak_4_at_YWHAQ_5end
chr2 9771092 9771153 CAGE_peak_1_at_YWHAQ_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I010429 10429965 10435755 1.67 [{'connected_gene': 'TAF1B', 'score': 31.73}, {'connected_gene': 'LOC101929882', 'score': 28.23}, {'connected_gene': 'KLF11', 'score': 19.21}, {'connected_gene': 'NOL10', 'score': 18.64}, {'connected_gene': 'C2orf48', 'score': 11.35}, {'connected_gene': 'ENSG00000217258', 'score': 11.32}, {'connected_gene': 'YWHAQ', 'score': 11.31}, {'connected_gene': 'ENSG00000239300', 'score': 10.71}, {'connected_gene': 'CYS1', 'score': 10.4}, {'connected_gene': 'ENSG00000233502', 'score': 10.4}, {'connected_gene': 'ENSG00000257135', 'score': 10.39}, {'connected_gene': 'IAH1', 'score': 6.04}, {'connected_gene': 'GC02M010446', 'score': 0.39}, {'connected_gene': 'SNORA80B', 'score': 0.39}, {'connected_gene': 'PIR41580', 'score': 0.34}]
chr2 GH02I009233 9232312 9240090 1.66 [{'connected_gene': 'ASAP2', 'score': 15.29}, {'connected_gene': 'ADAM17', 'score': 5.02}, {'connected_gene': 'ITGB1BP1', 'score': 4.65}, {'connected_gene': 'YWHAQ', 'score': 1.95}, {'connected_gene': 'GC02M009211', 'score': 0.77}]
chr2 GH02I009284 9284747 9290122 1.47 [{'connected_gene': 'ASAP2', 'score': 24.66}, {'connected_gene': 'YWHAQ', 'score': 2.37}, {'connected_gene': 'ITGB1BP1', 'score': 1.45}, {'connected_gene': 'EIF1P7', 'score': 0.37}, {'connected_gene': 'GC02M009313', 'score': 0.31}]
chr2 GH02I009607 9607323 9610123 1.14 [{'connected_gene': 'IAH1', 'score': 4.79}, {'connected_gene': 'GC02P009616', 'score': 0.44}, {'connected_gene': 'YWHAQ', 'score': 0.34}, {'connected_gene': 'LOC101929643', 'score': 0.26}]
chr2 GH02I009593 9593602 9596999 0.85 [{'connected_gene': 'IAH1', 'score': 5.41}, {'connected_gene': 'ENSG00000239300', 'score': 4.77}, {'connected_gene': 'GC02P009616', 'score': 0.37}, {'connected_gene': 'LOC101929643', 'score': 0.31}, {'connected_gene': 'YWHAQ', 'score': 0.28}]
chr2 GH02I009649 9649874 9651164 0.38 [{'connected_gene': 'YWHAQ', 'score': 13.24}, {'connected_gene': 'ADAM17', 'score': 10.78}, {'connected_gene': 'LOC105373419', 'score': 0.44}, {'connected_gene': 'LOC105373418', 'score': 0.39}, {'connected_gene': 'LOC101926982', 'score': 0.37}]
chr2 GH02I009653 9653516 9659547 1.63 [{'connected_gene': 'YWHAQ', 'score': 14.75}, {'connected_gene': 'RNU4-73P', 'score': 11.34}, {'connected_gene': 'ENSG00000240960', 'score': 11.32}, {'connected_gene': 'ADAM17', 'score': 11.18}, {'connected_gene': 'LOC105373419', 'score': 0.77}, {'connected_gene': 'LOC101926982', 'score': 0.44}, {'connected_gene': 'LOC105373418', 'score': 0.37}]
chr2 GH02I009737 9737201 9737400 0.54 [{'connected_gene': 'YWHAQ', 'score': 6.27}, {'connected_gene': 'GC02M009741', 'score': 0.77}, {'connected_gene': 'RNU4-73P', 'score': 0.77}, {'connected_gene': 'ENSG00000244260', 'score': 0.21}]
chr2 GH02I009756 9756841 9759730 0.78 [{'connected_gene': 'YWHAQ', 'score': 4.9}, {'connected_gene': 'LOC105373420', 'score': 0.44}, {'connected_gene': 'LOC100996549', 'score': 0.34}]
chr2 GH02I009627 9627686 9633322 2.28 [{'connected_gene': 'YWHAQ', 'score': 555.98}, {'connected_gene': 'LOC101929882', 'score': 30.39}, {'connected_gene': 'ENSG00000239300', 'score': 16.6}, {'connected_gene': 'CPSF3', 'score': 16.17}, {'connected_gene': 'RNU4-73P', 'score': 11.22}, {'connected_gene': 'ENSG00000240960', 'score': 11.21}, {'connected_gene': 'KLF11', 'score': 10.74}, {'connected_gene': 'TAF1B', 'score': 9.98}, {'connected_gene': 'IAH1', 'score': 5.24}, {'connected_gene': 'ENSG00000207086', 'score': 0.37}]
chr2 GH02I009625 9625044 9626032 0.31 [{'connected_gene': 'YWHAQ', 'score': 0.44}, {'connected_gene': 'ENSG00000207086', 'score': 0.39}]
chr2 GH02I009628 9627432 9627621 0.87 [{'connected_gene': 'RNU4-73P', 'score': 11.22}, {'connected_gene': 'ENSG00000240960', 'score': 11.21}, {'connected_gene': 'YWHAQ', 'score': 0.77}, {'connected_gene': 'ENSG00000207086', 'score': 0.39}]
chr2 GH02I009626 9626832 9626981 0.4 [{'connected_gene': 'RNU4-73P', 'score': 11.22}, {'connected_gene': 'ENSG00000240960', 'score': 11.21}, {'connected_gene': 'YWHAQ', 'score': 0.77}, {'connected_gene': 'ENSG00000207086', 'score': 0.39}]
chr2 GH02I009763 9763232 9769121 1.54 [{'connected_gene': 'RNU4-73P', 'score': 12.23}, {'connected_gene': 'ENSG00000233502', 'score': 10.83}, {'connected_gene': 'LOC100996549', 'score': 6.77}, {'connected_gene': 'ENSG00000257135', 'score': 5.45}, {'connected_gene': 'LOC101929882', 'score': 5.39}, {'connected_gene': 'ADAM17', 'score': 5.02}, {'connected_gene': 'YWHAQ', 'score': 4.8}, {'connected_gene': 'LOC105373420', 'score': 0.39}]
chr2 GH02I009752 9752305 9754816 1.64 [{'connected_gene': 'LOC105373420', 'score': 550.77}, {'connected_gene': 'ADAM17', 'score': 17.51}, {'connected_gene': 'LOC100996549', 'score': 6.49}, {'connected_gene': 'YWHAQ', 'score': 6.42}, {'connected_gene': 'IAH1', 'score': 5.08}, {'connected_gene': 'KLF11', 'score': 2.0}, {'connected_gene': 'GRHL1', 'score': 1.98}]
chr2 GH02I009636 9636872 9640264 1.31 [{'connected_gene': 'LOC105373418', 'score': 550.77}, {'connected_gene': 'ASAP2', 'score': 8.74}, {'connected_gene': 'YWHAQ', 'score': 0.44}]
chr2 GH02I009565 9565001 9566418 1 [{'connected_gene': 'LOC101929643', 'score': 550.77}, {'connected_gene': 'YWHAQ', 'score': 11.67}, {'connected_gene': 'IAH1', 'score': 8.45}, {'connected_gene': 'GC02P009616', 'score': 0.25}]
chr2 GH02I009613 9613412 9613561 0.69 [{'connected_gene': 'GC02P009616', 'score': 550.77}, {'connected_gene': 'ENSG00000207086', 'score': 550.77}, {'connected_gene': 'YWHAQ', 'score': 0.37}, {'connected_gene': 'LOC101929643', 'score': 0.25}]
chr2 GH02I009617 9617812 9619557 0.69 [{'connected_gene': 'ENSG00000207086', 'score': 0.77}, {'connected_gene': 'YWHAQ', 'score': 0.39}]
chr2 GH02I009738 9738017 9740069 1.29 [{'connected_gene': 'GC02M009741', 'score': 550.77}, {'connected_gene': 'RNU4-73P', 'score': 550.77}, {'connected_gene': 'ADAM17', 'score': 13.79}, {'connected_gene': 'LOC100996549', 'score': 8.36}, {'connected_gene': 'YWHAQ', 'score': 6.8}, {'connected_gene': 'KLF11', 'score': 1.23}, {'connected_gene': 'ENSG00000244260', 'score': 0.2}]