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
ENST00000296318 [[57124009, 57130533], [57131623, 57132566], [57135206, 57135391], [57136506, 57136617], [57137118, 57137173], [57138369, 57138435], [57139884, 57140036], [57140137, 57140182], [57143564, 57143685], [57144220, 57144339], [57148719, 57148845], [57154283, 57154341], [57199188, 57199403]] [[57130420, 57130533], [57131623, 57132566], [57135206, 57135391], [57136506, 57136617], [57137118, 57137173], [57138369, 57138435], [57139884, 57140036], [57140137, 57140182], [57143564, 57143685], [57144220, 57144339], [57148719, 57148845], [57154283, 57154341], [57199188, 57199314]]
ENST00000427856 [[57128277, 57130533], [57131623, 57132566], [57135206, 57135391], [57136506, 57136617], [57137118, 57137173], [57138369, 57138435], [57139884, 57140036], [57140137, 57140182], [57143564, 57143685], [57144220, 57144339], [57148719, 57148845], [57154283, 57154341], [57176480, 57176534]] [[57130420, 57130533], [57131623, 57132566], [57135206, 57135391], [57136506, 57136617], [57137118, 57137173], [57138369, 57138435], [57139884, 57140036], [57140137, 57140182], [57143564, 57143685], [57144220, 57144339], [57148719, 57148845], [57154283, 57154341], [57176480, 57176534]]
ENST00000320057 [[57128277, 57130533], [57131623, 57132566], [57135206, 57135391], [57136506, 57136617], [57137118, 57137173], [57138369, 57138435], [57139884, 57140036], [57140137, 57140182], [57143564, 57143685], [57144220, 57144339], [57148719, 57148845], [57154283, 57154341], [57203259, 57203422], [57204260, 57204334]] [[57130420, 57130533], [57131623, 57132566], [57135206, 57135391], [57136506, 57136617], [57137118, 57137173], [57138369, 57138435], [57139884, 57140036], [57140137, 57140182], [57143564, 57143682]]
ENST00000463523 [[57130205, 57130533], [57131623, 57132566], [57135206, 57135391], [57136506, 57136617], [57137118, 57137173], [57138369, 57138435], [57139884, 57140036], [57140137, 57140182], [57143564, 57143685], [57144220, 57144339], [57148719, 57148845], [57154283, 57154341], [57176480, 57176519]] [[57130420, 57130533], [57131623, 57132566], [57135206, 57135391], [57136506, 57136617], [57137118, 57137173], [57138369, 57138435], [57139884, 57140036], [57140137, 57140182], [57143564, 57143682]]
ENST00000469841 [[57131500, 57132566], [57135206, 57135391], [57136506, 57136617], [57137118, 57137173], [57138369, 57138435], [57139884, 57140036], [57140137, 57140182], [57143564, 57143685], [57144220, 57144339], [57148719, 57148845], [57154283, 57154341], [57204260, 57204323]] None
ENST00000467210 [[57139979, 57140036], [57140137, 57140182], [57143564, 57143685], [57144220, 57144339], [57148719, 57148845], [57154283, 57154341], [57204260, 57204323]] [[57139979, 57140036], [57140137, 57140182], [57143564, 57143682]]
ENST00000479825 [[57148768, 57148845], [57154283, 57154341], [57198953, 57199403]] None
ENST00000498471 [[57184317, 57184524], [57198953, 57199206]] None
NM_017563 [[57124009, 57130533], [57131623, 57132566], [57135206, 57135391], [57136506, 57136617], [57137118, 57137173], [57138369, 57138435], [57139884, 57140036], [57140137, 57140182], [57143564, 57143685], [57144220, 57144339], [57148719, 57148845], [57154283, 57154341], [57199188, 57199427]] [[57130420, 57130533], [57131623, 57132566], [57135206, 57135391], [57136506, 57136617], [57137118, 57137173], [57138369, 57138435], [57139884, 57140036], [57140137, 57140182], [57143564, 57143685], [57144220, 57144339], [57148719, 57148845], [57154283, 57154341], [57199188, 57199314]]
NM_001318864 [[57124009, 57130533], [57131623, 57132566], [57135206, 57135391], [57136506, 57136617], [57137118, 57137173], [57138369, 57138435], [57139884, 57140036], [57140137, 57140182], [57143564, 57143685], [57144220, 57144339], [57148719, 57148845], [57154283, 57154341], [57203259, 57203422], [57204260, 57204345]] [[57130420, 57130533], [57131623, 57132566], [57135206, 57135391], [57136506, 57136617], [57137118, 57137173], [57138369, 57138435], [57139884, 57140036], [57140137, 57140182], [57143564, 57143682]]
Promoter
Chrom Start End Description
chr3 57199333 57199352 CAGE_peak_2_at_IL17RD_5end
chr3 57199361 57199393 CAGE_peak_1_at_IL17RD_5end
chr3 57199397 57199432 CAGE_peak_3_at_IL17RD_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I057199 57199802 57200582 1.06 [{'connected_gene': 'HESX1', 'score': 561.98}, {'connected_gene': 'GC03P057200', 'score': 550.77}, {'connected_gene': 'APPL1', 'score': 11.98}, {'connected_gene': 'IL17RD', 'score': 11.04}, {'connected_gene': 'PDE12', 'score': 10.41}, {'connected_gene': 'ASB14', 'score': 10.36}, {'connected_gene': 'DNAH12', 'score': 10.25}, {'connected_gene': 'ARHGEF3', 'score': 9.59}, {'connected_gene': 'GC03M057226', 'score': 0.31}]
chr3 GH03I057793 57793601 57794200 1.29 [{'connected_gene': 'SLMAP', 'score': 6.48}, {'connected_gene': 'IL17RD', 'score': 4.49}, {'connected_gene': 'DENND6A', 'score': 3.1}, {'connected_gene': 'PDHA1P1', 'score': 0.44}]
chr3 GH03I057754 57754899 57759201 2.27 [{'connected_gene': 'SLMAP', 'score': 550.77}, {'connected_gene': 'DENND6A-DT', 'score': 11.46}, {'connected_gene': 'DENND6A', 'score': 11.46}, {'connected_gene': 'IL17RD', 'score': 5.76}, {'connected_gene': 'PDE12', 'score': 5.06}, {'connected_gene': 'DNAH12', 'score': 4.97}, {'connected_gene': 'ARF4', 'score': 4.96}, {'connected_gene': 'ENSG00000272202', 'score': 4.09}, {'connected_gene': 'GC03P057753', 'score': 0.77}, {'connected_gene': 'PDHA1P1', 'score': 0.26}]
chr3 GH03I057141 57141817 57143921 0.72 [{'connected_gene': 'IL17RD', 'score': 20.24}, {'connected_gene': 'SLMAP', 'score': 4.09}, {'connected_gene': 'RPL19P2', 'score': 0.44}, {'connected_gene': 'LOC105377101', 'score': 0.39}]
chr3 GH03I057126 57126159 57126753 0.38 [{'connected_gene': 'IL17RD', 'score': 11.92}, {'connected_gene': 'ARHGEF3', 'score': 10.85}, {'connected_gene': 'RPL19P2', 'score': 0.44}, {'connected_gene': 'PIR43010', 'score': 0.31}]
chr3 GH03I057067 57067824 57070497 1.31 [{'connected_gene': 'IL17RD', 'score': 5.03}, {'connected_gene': 'ARHGEF3', 'score': 1.78}, {'connected_gene': 'ENSG00000272202', 'score': 0.44}, {'connected_gene': 'SPATA12', 'score': 0.44}]
chr3 GH03I057127 57127428 57132788 1.03 [{'connected_gene': 'IL17RD', 'score': 20.0}, {'connected_gene': 'ARHGEF3', 'score': 10.83}, {'connected_gene': 'APPL1', 'score': 10.6}, {'connected_gene': 'HESX1', 'score': 10.6}, {'connected_gene': 'ASB14', 'score': 9.5}, {'connected_gene': 'DNAH12', 'score': 9.45}, {'connected_gene': 'SLMAP', 'score': 4.02}, {'connected_gene': 'RPL19P2', 'score': 0.77}, {'connected_gene': 'PIR43010', 'score': 0.29}]
chr3 GH03I057162 57162857 57165800 2.13 [{'connected_gene': 'IL17RD', 'score': 556.18}, {'connected_gene': 'APPL1', 'score': 10.62}, {'connected_gene': 'HESX1', 'score': 10.62}, {'connected_gene': 'SLMAP', 'score': 4.03}, {'connected_gene': 'LOC105377101', 'score': 0.39}]
chr3 GH03I057169 57169801 57170601 1.36 [{'connected_gene': 'IL17RD', 'score': 550.77}, {'connected_gene': 'APPL1', 'score': 16.79}, {'connected_gene': 'HESX1', 'score': 11.04}, {'connected_gene': 'PDE12', 'score': 10.36}, {'connected_gene': 'ASB14', 'score': 9.91}, {'connected_gene': 'DNAH12', 'score': 9.84}, {'connected_gene': 'DENND6A-DT', 'score': 9.47}, {'connected_gene': 'DENND6A', 'score': 9.47}, {'connected_gene': 'SLMAP', 'score': 4.1}, {'connected_gene': 'LOC105377101', 'score': 0.37}]
chr3 GH03I057100 57100213 57100362 0.83 [{'connected_gene': 'ARHGEF3', 'score': 15.73}, {'connected_gene': 'SPATA12', 'score': 11.67}, {'connected_gene': 'IL17RD', 'score': 11.06}, {'connected_gene': 'APPL1', 'score': 10.41}, {'connected_gene': 'HESX1', 'score': 10.41}, {'connected_gene': 'PIR43010', 'score': 0.77}, {'connected_gene': 'RPL19P2', 'score': 0.29}]
chr3 GH03I057110 57110720 57111534 0.49 [{'connected_gene': 'ARHGEF3', 'score': 11.6}, {'connected_gene': 'SPATA12', 'score': 11.2}, {'connected_gene': 'PDE12', 'score': 10.4}, {'connected_gene': 'APPL1', 'score': 10.17}, {'connected_gene': 'HESX1', 'score': 10.17}, {'connected_gene': 'ASB14', 'score': 10.07}, {'connected_gene': 'DNAH12', 'score': 10.03}, {'connected_gene': 'PIR43010', 'score': 0.39}, {'connected_gene': 'RPL19P2', 'score': 0.34}, {'connected_gene': 'IL17RD', 'score': 0.22}]
chr3 GH03I057594 57594549 57600593 2.3 [{'connected_gene': 'ARF4', 'score': 565.34}, {'connected_gene': 'GC03P057599', 'score': 550.77}, {'connected_gene': 'ARF4-AS1', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 23.78}, {'connected_gene': 'FAM208A', 'score': 20.42}, {'connected_gene': 'DENND6A-AS1', 'score': 11.53}, {'connected_gene': 'PDE12', 'score': 11.29}, {'connected_gene': 'DENND6A-DT', 'score': 10.73}, {'connected_gene': 'APPL1', 'score': 9.85}, {'connected_gene': 'HESX1', 'score': 9.85}, {'connected_gene': 'FLNB', 'score': 9.84}, {'connected_gene': 'DNAH12', 'score': 5.55}, {'connected_gene': 'ABHD6', 'score': 5.46}, {'connected_gene': 'IL17RD', 'score': 4.7}]
chr3 GH03I057090 57090882 57092395 0.2 [{'connected_gene': 'SPATA12', 'score': 11.76}, {'connected_gene': 'ASB14', 'score': 9.93}, {'connected_gene': 'DNAH12', 'score': 9.9}, {'connected_gene': 'IL17RD', 'score': 7.5}, {'connected_gene': 'PIR55494', 'score': 0.77}, {'connected_gene': 'GC03M057078', 'score': 0.39}]
chr3 GH03I057158 57158551 57162597 1.1 [{'connected_gene': 'CCDC66', 'score': 15.47}, {'connected_gene': 'FAM208A', 'score': 11.79}, {'connected_gene': 'IL17RD', 'score': 11.42}, {'connected_gene': 'APPL1', 'score': 10.61}, {'connected_gene': 'HESX1', 'score': 10.61}, {'connected_gene': 'ASB14', 'score': 10.26}, {'connected_gene': 'DNAH12', 'score': 10.19}, {'connected_gene': 'SLMAP', 'score': 4.02}, {'connected_gene': 'LOC105377101', 'score': 0.44}]
chr3 GH03I057196 57196401 57197599 0.62 [{'connected_gene': 'APPL1', 'score': 18.9}, {'connected_gene': 'HESX1', 'score': 11.96}, {'connected_gene': 'IL17RD', 'score': 11.04}, {'connected_gene': 'PDE12', 'score': 10.41}, {'connected_gene': 'ASB14', 'score': 10.35}, {'connected_gene': 'DNAH12', 'score': 10.25}, {'connected_gene': 'ARHGEF3', 'score': 9.59}, {'connected_gene': 'GC03P057200', 'score': 0.77}, {'connected_gene': 'GC03P057176', 'score': 0.34}]
chr3 GH03I057154 57154240 57155740 0.38 [{'connected_gene': 'LOC105377101', 'score': 550.77}, {'connected_gene': 'IL17RD', 'score': 11.25}, {'connected_gene': 'ARHGEF3', 'score': 10.66}, {'connected_gene': 'APPL1', 'score': 10.5}, {'connected_gene': 'HESX1', 'score': 10.5}, {'connected_gene': 'ASB14', 'score': 9.9}, {'connected_gene': 'DNAH12', 'score': 9.83}, {'connected_gene': 'SLMAP', 'score': 4.01}]
chr3 GH03I057149 57149786 57154203 1.03 [{'connected_gene': 'LOC105377101', 'score': 550.77}, {'connected_gene': 'IL17RD', 'score': 11.23}, {'connected_gene': 'APPL1', 'score': 10.89}, {'connected_gene': 'HESX1', 'score': 10.89}, {'connected_gene': 'ARHGEF3', 'score': 10.67}, {'connected_gene': 'ASB14', 'score': 9.89}, {'connected_gene': 'DNAH12', 'score': 9.83}, {'connected_gene': 'SLMAP', 'score': 4.01}, {'connected_gene': 'RPL19P2', 'score': 0.37}]
chr3 GH03I057690 57690654 57694437 2.04 [{'connected_gene': 'DENND6A-DT', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 550.77}, {'connected_gene': 'ARF4', 'score': 14.72}, {'connected_gene': 'IL17RD', 'score': 4.97}, {'connected_gene': 'ACOX2', 'score': 4.86}, {'connected_gene': 'SLMAP', 'score': 4.86}, {'connected_gene': 'DENND6A-AS1', 'score': 0.21}]
chr3 GH03I057093 57093093 57096379 0.63 [{'connected_gene': 'PIR55494', 'score': 550.77}, {'connected_gene': 'SPATA12', 'score': 11.43}, {'connected_gene': 'APPL1', 'score': 10.02}, {'connected_gene': 'HESX1', 'score': 10.02}, {'connected_gene': 'ASB14', 'score': 9.93}, {'connected_gene': 'DNAH12', 'score': 9.9}, {'connected_gene': 'DENND6A-DT', 'score': 9.35}, {'connected_gene': 'DENND6A', 'score': 9.35}, {'connected_gene': 'GC03M057078', 'score': 0.39}, {'connected_gene': 'IL17RD', 'score': 0.18}]