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
ENST00000335968 [[102193800, 102194933], [102197124, 102197239], [102197987, 102198060], [102201914, 102202019], [102211688, 102211789], [102211873, 102211951], [102215802, 102215940], [102224277, 102224440], [102226098, 102226265], [102241288, 102241387], [102242441, 102242588], [102244061, 102244140], [102245885, 102245950], [102248995, 102249113], [102252082, 102252204], [102255042, 102255166], [102261328, 102261525], [102263295, 102263367], [102264293, 102264807]] [[102194784, 102194933], [102197124, 102197239], [102197987, 102198060], [102201914, 102202019], [102211688, 102211789], [102211873, 102211951], [102215802, 102215940], [102224277, 102224440], [102226098, 102226265], [102241288, 102241387], [102242441, 102242588], [102244061, 102244140], [102245885, 102245950], [102248995, 102249113], [102252082, 102252204], [102255042, 102255166], [102261328, 102261525], [102263295, 102263367], [102264293, 102264590]]
ENST00000558533 [[102194415, 102194933], [102197124, 102197239], [102201914, 102202019], [102211688, 102211789], [102211873, 102211951], [102215802, 102215940], [102224277, 102224440], [102226098, 102226265], [102239533, 102239638], [102241288, 102241387], [102242441, 102242588], [102244061, 102244140], [102245885, 102245950], [102248995, 102249031]] [[102239617, 102239638], [102241288, 102241387], [102242441, 102242588], [102244061, 102244140], [102245885, 102245950], [102248995, 102249031]]
ENST00000539112 [[102194596, 102194933], [102196069, 102196223], [102197124, 102197239], [102197987, 102198060], [102201914, 102202019], [102211688, 102211789], [102211873, 102211951], [102215802, 102215940], [102224277, 102224440], [102226098, 102226265], [102241288, 102241387], [102242441, 102242588], [102244061, 102244140], [102245885, 102245950], [102248995, 102249113], [102252082, 102252204], [102255042, 102255166], [102261328, 102261525], [102263295, 102263367], [102264293, 102264613]] [[102196182, 102196223], [102197124, 102197239], [102197987, 102198060], [102201914, 102202019], [102211688, 102211789], [102211873, 102211951], [102215802, 102215940], [102224277, 102224440], [102226098, 102226265], [102241288, 102241387], [102242441, 102242588], [102244061, 102244140], [102245885, 102245950], [102248995, 102249113], [102252082, 102252204], [102255042, 102255166], [102261328, 102261525], [102263295, 102263367], [102264293, 102264590]]
ENST00000557811 [[102235962, 102236242], [102241288, 102241368]] None
ENST00000559492 [[102194671, 102194933], [102197124, 102197239], [102201914, 102202019], [102204372, 102204645]] None
ENST00000560150 [[102254880, 102255166], [102261328, 102261377]] None
NM_152334 [[102193954, 102194933], [102197124, 102197239], [102197987, 102198060], [102201914, 102202019], [102211688, 102211789], [102211873, 102211951], [102215802, 102215940], [102224277, 102224440], [102226098, 102226265], [102241288, 102241387], [102242441, 102242588], [102244061, 102244140], [102245885, 102245950], [102248995, 102249113], [102252082, 102252204], [102255042, 102255166], [102261328, 102261525], [102263295, 102263367], [102264293, 102264645]] [[102194784, 102194933], [102197124, 102197239], [102197987, 102198060], [102201914, 102202019], [102211688, 102211789], [102211873, 102211951], [102215802, 102215940], [102224277, 102224440], [102226098, 102226265], [102241288, 102241387], [102242441, 102242588], [102244061, 102244140], [102245885, 102245950], [102248995, 102249113], [102252082, 102252204], [102255042, 102255166], [102261328, 102261525], [102263295, 102263367], [102264293, 102264590]]
Promoter
Chrom Start End Description
chr15 102264366 102264388 CAGE_peak_3_at_TARSL2_5end
chr15 102264619 102264697 CAGE_peak_1_at_TARSL2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I101662 101662126 101662444 0.47 [{'connected_gene': 'TM2D3', 'score': 28.89}, {'connected_gene': 'OR4F15', 'score': 1.51}, {'connected_gene': 'TARSL2', 'score': 0.21}]
chr15 GH15I101650 101650860 101653675 2.27 [{'connected_gene': 'TM2D3', 'score': 581.66}, {'connected_gene': 'TARSL2', 'score': 10.68}, {'connected_gene': 'RNU6-807P', 'score': 0.77}]
chr15 GH15I101640 101640665 101643321 1.21 [{'connected_gene': 'TM2D3', 'score': 28.69}, {'connected_gene': 'TARSL2', 'score': 20.07}, {'connected_gene': 'LOC100128108', 'score': 14.61}, {'connected_gene': 'SNRPA1', 'score': 11.53}, {'connected_gene': 'SELENOS', 'score': 11.25}, {'connected_gene': 'RNU6-807P', 'score': 0.44}, {'connected_gene': 'LINC02348', 'score': 0.31}]
chr15 GH15I101683 101683881 101685071 0.67 [{'connected_gene': 'TM2D3', 'score': 27.24}, {'connected_gene': 'TARSL2', 'score': 9.83}]
chr15 GH15I101658 101658058 101658207 0.66 [{'connected_gene': 'TM2D3', 'score': 0.44}, {'connected_gene': 'TARSL2', 'score': 0.2}]
chr15 GH15I101679 101679097 101680770 0.31 [{'connected_gene': 'TM2D3', 'score': 11.83}, {'connected_gene': 'RNU6-807P', 'score': 11.06}, {'connected_gene': 'TARSL2', 'score': 9.85}, {'connected_gene': 'LOC100128108', 'score': 4.87}]
chr15 GH15I101674 101674758 101677585 0.8 [{'connected_gene': 'TM2D3', 'score': 17.21}, {'connected_gene': 'LOC100128108', 'score': 16.05}, {'connected_gene': 'RNU6-807P', 'score': 11.07}, {'connected_gene': 'DNM1P47', 'score': 6.07}, {'connected_gene': 'TARSL2', 'score': 0.25}]
chr15 GH15I101293 101293015 101297693 2.33 [{'connected_gene': 'SNRPA1', 'score': 553.83}, {'connected_gene': 'ENSG00000259172', 'score': 550.77}, {'connected_gene': 'LINS1', 'score': 45.26}, {'connected_gene': 'LOC100419174', 'score': 22.82}, {'connected_gene': 'CERS3-AS1', 'score': 14.01}, {'connected_gene': 'PRKXP1', 'score': 13.86}, {'connected_gene': 'RNU6-807P', 'score': 11.63}, {'connected_gene': 'WASH3P', 'score': 10.95}, {'connected_gene': 'LRRK1', 'score': 10.56}, {'connected_gene': 'ENSG00000270127', 'score': 10.06}, {'connected_gene': 'ASB7', 'score': 10.05}, {'connected_gene': 'TARSL2', 'score': 3.75}, {'connected_gene': 'TM2D3', 'score': 2.09}, {'connected_gene': 'PCSK6', 'score': 0.07}]
chr15 GH15I101813 101813334 101815017 0.49 [{'connected_gene': 'OR4F15', 'score': 550.77}, {'connected_gene': 'LOC100128108', 'score': 12.6}, {'connected_gene': 'WASH3P', 'score': 6.4}, {'connected_gene': 'TARSL2', 'score': 4.63}, {'connected_gene': 'GC15P104612', 'score': 0.77}]
chr15 GH15I101723 101723098 101725150 1.55 [{'connected_gene': 'TARSL2', 'score': 550.77}, {'connected_gene': 'LOC100128108', 'score': 14.64}, {'connected_gene': 'SELENOS', 'score': 10.54}, {'connected_gene': 'TM2D3', 'score': 10.27}, {'connected_gene': 'GC15M101723', 'score': 0.2}]
chr15 GH15I101673 101673282 101673647 0.33 [{'connected_gene': 'RNU6-807P', 'score': 10.94}, {'connected_gene': 'TM2D3', 'score': 0.34}, {'connected_gene': 'TARSL2', 'score': 0.23}]
chr15 GH15I101520 101520460 101520582 0.22 [{'connected_gene': 'RNU6-807P', 'score': 10.7}, {'connected_gene': 'TARSL2', 'score': 2.55}, {'connected_gene': 'PCSK6', 'score': 2.49}, {'connected_gene': 'ENSG00000277210', 'score': 0.77}, {'connected_gene': 'GC15M101488', 'score': 0.44}]
chr15 GH15I101710 101710488 101711537 0.2 [{'connected_gene': 'LOC100128108', 'score': 5.82}, {'connected_gene': 'TARSL2', 'score': 0.39}, {'connected_gene': 'TM2D3', 'score': 0.22}]