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
ENST00000520408 [[9413423, 9414122], [9437668, 9437893], [9473091, 9473187], [9537460, 9537497], [9538234, 9538310], [9562172, 9562267], [9563696, 9563763], [9564320, 9564507], [9565880, 9566002], [9567464, 9567556], [9567651, 9567919]] [[9413449, 9414122], [9437668, 9437893], [9473091, 9473187], [9537460, 9537497], [9538234, 9538310], [9562172, 9562267], [9563696, 9563763], [9564320, 9564507], [9565880, 9566002], [9567464, 9567556], [9567651, 9567835]]
ENST00000310430 [[9413423, 9414122], [9437668, 9437893], [9473091, 9473187], [9537460, 9537497], [9538234, 9538310], [9562172, 9562267], [9563696, 9563763], [9564320, 9564507], [9565880, 9566002], [9567464, 9567556], [9567651, 9567730], [9577883, 9578055], [9584150, 9584230], [9588399, 9588545], [9590788, 9590954], [9592374, 9592594], [9592886, 9592996], [9605533, 9605722], [9609118, 9609356], [9610053, 9610136], [9619025, 9619146], [9620656, 9620754], [9622225, 9622300], [9623201, 9623307], [9623748, 9623935], [9627615, 9627772], [9634159, 9639856]] [[9413449, 9414122], [9437668, 9437893], [9473091, 9473187], [9537460, 9537497], [9538234, 9538310], [9562172, 9562267], [9563696, 9563763], [9564320, 9564507], [9565880, 9566002], [9567464, 9567556], [9567651, 9567730], [9577883, 9578055], [9584150, 9584230], [9588399, 9588545], [9590788, 9590954], [9592374, 9592594], [9592886, 9592996], [9605533, 9605722], [9609118, 9609356], [9610053, 9610136], [9619025, 9619146], [9620656, 9620754], [9622225, 9622300], [9623201, 9623307], [9623748, 9623935], [9627615, 9627772], [9634159, 9634246]]
ENST00000518281 [[9432516, 9432909], [9437668, 9437893], [9473091, 9473187], [9537460, 9537497], [9538234, 9538310], [9562172, 9562267], [9563696, 9563763], [9564320, 9564507], [9565880, 9566002], [9567464, 9567556], [9567651, 9567730], [9577883, 9578055], [9584150, 9584230], [9588399, 9588545], [9590788, 9590954], [9592374, 9592594], [9592886, 9592996], [9605533, 9605722], [9609118, 9609356], [9610053, 9610136], [9619025, 9619146], [9620656, 9620754], [9622225, 9622300], [9623201, 9623307], [9623748, 9623935], [9627615, 9627772], [9634159, 9634439]] [[9437706, 9437893], [9473091, 9473187], [9537460, 9537497], [9538234, 9538310], [9562172, 9562267], [9563696, 9563763], [9564320, 9564507], [9565880, 9566002], [9567464, 9567556], [9567651, 9567730], [9577883, 9578055], [9584150, 9584230], [9588399, 9588545], [9590788, 9590954], [9592374, 9592594], [9592886, 9592996], [9605533, 9605722], [9609118, 9609356], [9610053, 9610136], [9619025, 9619146], [9620656, 9620754], [9622225, 9622300], [9623201, 9623307], [9623748, 9623935], [9627615, 9627772], [9634159, 9634246]]
ENST00000522110 [[9413441, 9416341]] [[9413449, 9414181]]
ENST00000517652 [[9423769, 9424036]] None
ENST00000518027 [[9472799, 9472996], [9473091, 9473187], [9537460, 9537497], [9538234, 9538310], [9562172, 9562267], [9563696, 9563763], [9564320, 9564518]] None
ENST00000521039 [[9527628, 9527706], [9528236, 9528299], [9528489, 9528566], [9528655, 9528713], [9537460, 9537497], [9538234, 9538666]] None
ENST00000519392 [[9537263, 9537346], [9537460, 9537497], [9538234, 9538310], [9562172, 9562267], [9563696, 9563763], [9564320, 9564518]] None
ENST00000517989 [[9537355, 9537497], [9538234, 9538310], [9562172, 9562267], [9563696, 9563763], [9564320, 9564507], [9565880, 9565916]] None
ENST00000519930 [[9577965, 9578055], [9579907, 9580010], [9584150, 9584230], [9588399, 9588483]] None
ENST00000518635 [[9592500, 9592594], [9592886, 9592996], [9600973, 9601082], [9605533, 9605723]] [[9592500, 9592594], [9592886, 9592996], [9600973, 9600976]]
ENST00000519191 [[9598423, 9598625], [9605533, 9605722], [9609118, 9609223]] None
ENST00000517770 [[9627640, 9627772], [9629878, 9629933], [9634159, 9634546]] [[9627640, 9627772]]
NM_003747 [[9413444, 9414122], [9437668, 9437893], [9473091, 9473187], [9537460, 9537497], [9538234, 9538310], [9562172, 9562267], [9563696, 9563763], [9564320, 9564507], [9565880, 9566002], [9567464, 9567556], [9567651, 9567730], [9577883, 9578055], [9584150, 9584230], [9588399, 9588545], [9590788, 9590954], [9592374, 9592594], [9592886, 9592996], [9605533, 9605722], [9609118, 9609356], [9610053, 9610136], [9619025, 9619146], [9620656, 9620754], [9622225, 9622300], [9623201, 9623307], [9623748, 9623935], [9627615, 9627772], [9634159, 9639856]] [[9413449, 9414122], [9437668, 9437893], [9473091, 9473187], [9537460, 9537497], [9538234, 9538310], [9562172, 9562267], [9563696, 9563763], [9564320, 9564507], [9565880, 9566002], [9567464, 9567556], [9567651, 9567730], [9577883, 9578055], [9584150, 9584230], [9588399, 9588545], [9590788, 9590954], [9592374, 9592594], [9592886, 9592996], [9605533, 9605722], [9609118, 9609356], [9610053, 9610136], [9619025, 9619146], [9620656, 9620754], [9622225, 9622300], [9623201, 9623307], [9623748, 9623935], [9627615, 9627772], [9634159, 9634246]]
Promoter
Chrom Start End Description
chr8 9413410 9413451 CAGE_peak_1_at_TNKS_5end
chr8 9537280 9537331 CAGE_peak_2_at_TNKS_5end
chr8 9537355 9537397 CAGE_peak_3_at_TNKS_5end
chr8 9537398 9537415 CAGE_peak_8_at_TNKS_5end
chr8 9577966 9577972 CAGE_peak_26_at_TNKS_5end
chr8 9577986 9578004 CAGE_peak_12_at_TNKS_5end
chr8 9578005 9578014 CAGE_peak_22_at_TNKS_5end
chr8 9598356 9598358 CAGE_peak_4_at_TNKS_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I009592 9592401 9592620 0.4 [{'connected_gene': 'TNKS', 'score': 12.46}, {'connected_gene': 'MIR597', 'score': 9.27}, {'connected_gene': 'GC08P009566', 'score': 0.31}, {'connected_gene': 'ENSG00000253697', 'score': 0.2}]
chr8 GH08I009608 9608601 9608800 0.62 [{'connected_gene': 'TNKS', 'score': 18.25}, {'connected_gene': 'RPL10P19', 'score': 4.44}, {'connected_gene': 'GC08P009566', 'score': 0.26}, {'connected_gene': 'ENSG00000253697', 'score': 0.25}]
chr8 GH08I009552 9552201 9552600 0.69 [{'connected_gene': 'TNKS', 'score': 0.77}, {'connected_gene': 'LOC100420404', 'score': 0.15}]
chr8 GH08I009516 9516965 9518624 0.58 [{'connected_gene': 'TNKS', 'score': 0.28}, {'connected_gene': 'LOC100420404', 'score': 0.21}]
chr8 GH08I009633 9633410 9634500 0.54 [{'connected_gene': 'TNKS', 'score': 10.75}, {'connected_gene': 'ENSG00000253697', 'score': 0.34}, {'connected_gene': 'GC08P009566', 'score': 0.2}]
chr8 GH08I009577 9577449 9578320 0.66 [{'connected_gene': 'TNKS', 'score': 5.96}, {'connected_gene': 'GC08P009566', 'score': 0.39}, {'connected_gene': 'ENSG00000253697', 'score': 0.18}]
chr8 GH08I009614 9614637 9615400 0.84 [{'connected_gene': 'TNKS', 'score': 18.43}, {'connected_gene': 'ENSG00000253697', 'score': 0.26}, {'connected_gene': 'GC08P009566', 'score': 0.25}]
chr8 GH08I009615 9614211 9614360 0.38 [{'connected_gene': 'TNKS', 'score': 12.1}, {'connected_gene': 'ENSG00000253697', 'score': 0.26}, {'connected_gene': 'GC08P009566', 'score': 0.25}]
chr8 GH08I009781 9781067 9783195 0.96 [{'connected_gene': 'MIR597', 'score': 9.79}, {'connected_gene': 'ERI1', 'score': 5.39}, {'connected_gene': 'PIR58717', 'score': 0.26}, {'connected_gene': 'GC08P009742', 'score': 0.26}, {'connected_gene': 'TNKS', 'score': 0.07}]
chr8 GH08I009780 9780191 9780340 0.31 [{'connected_gene': 'MIR597', 'score': 9.81}, {'connected_gene': 'GC08P009742', 'score': 0.28}, {'connected_gene': 'PIR58717', 'score': 0.26}, {'connected_gene': 'TNKS', 'score': 0.07}]
chr8 GH08I009775 9775699 9776775 0.46 [{'connected_gene': 'MIR597', 'score': 10.62}, {'connected_gene': 'GC08P009742', 'score': 0.29}, {'connected_gene': 'PIR58717', 'score': 0.25}, {'connected_gene': 'TNKS', 'score': 0.07}]
chr8 GH08I009719 9719911 9720795 0.59 [{'connected_gene': 'MIR597', 'score': 10.79}, {'connected_gene': 'RPL10P19', 'score': 8.0}, {'connected_gene': 'TNKS', 'score': 5.62}, {'connected_gene': 'ENSG00000272267', 'score': 5.0}, {'connected_gene': 'GC08P009743', 'score': 0.34}, {'connected_gene': 'ENSG00000253697', 'score': 0.21}]
chr8 GH08I009549 9549913 9551794 1.15 [{'connected_gene': 'RPL10P19', 'score': 7.64}, {'connected_gene': 'TNKS', 'score': 0.77}, {'connected_gene': 'LOC100420404', 'score': 0.15}]
chr8 GH08I009628 9628676 9629730 0.2 [{'connected_gene': 'RPL10P19', 'score': 4.43}, {'connected_gene': 'ENSG00000253697', 'score': 0.31}, {'connected_gene': 'GC08P009566', 'score': 0.21}, {'connected_gene': 'TNKS', 'score': 0.19}]
chr8 GH08I009916 9916890 9917259 0.46 [{'connected_gene': 'MSRA', 'score': 13.72}, {'connected_gene': 'TNKS', 'score': 1.25}, {'connected_gene': 'LINC00599', 'score': 0.39}, {'connected_gene': 'LOC105379234', 'score': 0.12}]
chr8 GH08I008624 8624609 8628490 1.27 [{'connected_gene': 'FAM86B3P', 'score': 11.72}, {'connected_gene': 'TNKS', 'score': 10.82}, {'connected_gene': 'CLDN23', 'score': 10.27}, {'connected_gene': 'ALG1L13P', 'score': 6.84}, {'connected_gene': 'RPL10P19', 'score': 4.59}, {'connected_gene': 'RN7SL178P', 'score': 0.26}, {'connected_gene': 'GC08M008584', 'score': 0.26}, {'connected_gene': 'LOC105379225', 'score': 0.21}]
chr8 GH08I008867 8867982 8874619 1.41 [{'connected_gene': 'FAM86B3P', 'score': 34.09}, {'connected_gene': 'FAM90A11P', 'score': 21.55}, {'connected_gene': 'TNKS', 'score': 14.87}, {'connected_gene': 'FAM66E', 'score': 12.57}, {'connected_gene': 'ERI1', 'score': 10.54}, {'connected_gene': 'MFHAS1', 'score': 8.52}, {'connected_gene': 'ENSG00000254367', 'score': 0.17}]
chr8 GH08I009368 9368929 9369447 0.81 [{'connected_gene': 'LOC105379230', 'score': 10.96}, {'connected_gene': 'TNKS', 'score': 9.95}, {'connected_gene': 'GC08M009373', 'score': 0.77}, {'connected_gene': 'LOC105379231', 'score': 0.44}, {'connected_gene': 'LOC157273', 'score': 0.13}]
chr8 GH08I009554 9554608 9557801 2.04 [{'connected_gene': 'ENSG00000272267', 'score': 557.52}, {'connected_gene': 'TNKS', 'score': 556.5}, {'connected_gene': 'RPL10P19', 'score': 4.1}]
chr8 GH08I009653 9653531 9653680 0.46 [{'connected_gene': 'ENSG00000253697', 'score': 0.77}, {'connected_gene': 'GC08P009566', 'score': 0.17}, {'connected_gene': 'TNKS', 'score': 0.15}]
chr8 GH08I009651 9651631 9651780 0.46 [{'connected_gene': 'ENSG00000253697', 'score': 0.44}, {'connected_gene': 'GC08P009566', 'score': 0.17}, {'connected_gene': 'TNKS', 'score': 0.15}]
chr8 GH08I009627 9627401 9627600 0.2 [{'connected_gene': 'ENSG00000253697', 'score': 0.29}, {'connected_gene': 'GC08P009566', 'score': 0.21}, {'connected_gene': 'TNKS', 'score': 0.19}]
chr8 GH08I009629 9628001 9628400 0.2 [{'connected_gene': 'ENSG00000272267', 'score': 5.67}, {'connected_gene': 'ENSG00000253697', 'score': 0.29}, {'connected_gene': 'GC08P009566', 'score': 0.21}, {'connected_gene': 'TNKS', 'score': 0.19}]