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
ENST00000256108 [[82570195, 82571701], [82572750, 82572902], [82583173, 82583282], [82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593819], [82598486, 82598928]] [[82571585, 82571701], [82572750, 82572902], [82583173, 82583282], [82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593795]]
ENST00000311489 [[82571278, 82571701], [82572750, 82572902], [82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593819], [82598486, 82598536]] [[82572762, 82572902], [82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593795]]
ENST00000449740 [[82571496, 82571701], [82572750, 82572902], [82583173, 82583282], [82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593819], [82597997, 82598198], [82598486, 82598518]] [[82571585, 82571701], [82572750, 82572902], [82583173, 82583282], [82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593819], [82597997, 82598150]]
ENST00000523942 [[82572748, 82572902], [82583173, 82583282], [82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593798], [82597997, 82598067]] [[82572748, 82572902], [82583173, 82583282], [82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593798], [82597997, 82598067]]
ENST00000518188 [[82572750, 82572902], [82583173, 82583282], [82586075, 82586184], [82591360, 82591465], [82592884, 82593018], [82593732, 82593819], [82598486, 82598563]] [[82586180, 82586184], [82591360, 82591465], [82592884, 82593018], [82593732, 82593795]]
ENST00000523710 [[82572807, 82572902], [82583173, 82583282], [82586075, 82586184], [82588468, 82588500], [82591360, 82591465], [82592884, 82593014], [82593732, 82593819], [82598486, 82598550]] None
ENST00000519964 [[82583173, 82583282], [82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593014], [82593732, 82593819], [82598486, 82598553]] [[82583173, 82583282], [82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593014], [82593732, 82593775]]
ENST00000521360 [[82583174, 82583282], [82586075, 82586184], [82588468, 82588514], [82592884, 82593018], [82593732, 82593819], [82598486, 82598545]] [[82583174, 82583282], [82586075, 82586184], [82588468, 82588514], [82592884, 82593018], [82593732, 82593795]]
ENST00000520065 [[82583212, 82583282], [82586075, 82586656]] None
ENST00000521979 [[82583242, 82583282], [82586075, 82586184], [82588468, 82588500], [82591360, 82591465], [82592884, 82593018], [82593732, 82593819], [82598486, 82598545]] [[82588472, 82588500], [82591360, 82591465], [82592884, 82593018], [82593732, 82593795]]
ENST00000522997 [[82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593819], [82597997, 82598286]] [[82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593819], [82597997, 82598150]]
ENST00000518202 [[82586102, 82586184], [82588468, 82588500], [82590817, 82590924], [82591360, 82591465], [82592884, 82593018], [82593732, 82593819], [82598486, 82598566]] [[82586102, 82586184], [82588468, 82588500], [82590817, 82590924], [82591360, 82591465], [82592884, 82593018], [82593732, 82593795]]
ENST00000519816 [[82586130, 82586184], [82586906, 82587066], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593819], [82598486, 82598517]] [[82587033, 82587066], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593795]]
NM_001144878 [[82569150, 82571701], [82572750, 82572902], [82583173, 82583282], [82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593819], [82597997, 82598198], [82598486, 82598589]] [[82571585, 82571701], [82572750, 82572902], [82583173, 82583282], [82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593819], [82597997, 82598150]]
NM_005536 [[82569150, 82571701], [82572750, 82572902], [82583173, 82583282], [82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593819], [82598486, 82598589]] [[82571585, 82571701], [82572750, 82572902], [82583173, 82583282], [82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593795]]
NM_001144879 [[82569150, 82571701], [82572750, 82572902], [82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593819], [82598486, 82598589]] [[82572762, 82572902], [82586075, 82586184], [82588468, 82588514], [82591360, 82591465], [82592884, 82593018], [82593732, 82593795]]
Promoter
Chrom Start End Description
chr8 82598191 82598195 CAGE_peak_3_at_IMPA1_5end
chr8 82598511 82598570 CAGE_peak_1_at_IMPA1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I081730 81730627 81734455 2.2 [{'connected_gene': 'CHMP4C', 'score': 557.35}, {'connected_gene': 'ZFAND1', 'score': 550.77}, {'connected_gene': 'IMPA1', 'score': 25.19}, {'connected_gene': 'FABP5', 'score': 4.3}]
chr8 GH08I081363 81363097 81365466 0.86 [{'connected_gene': 'ZFAND1', 'score': 16.18}, {'connected_gene': 'ENSG00000254162', 'score': 10.33}, {'connected_gene': 'PMP2', 'score': 10.25}, {'connected_gene': 'FABP4', 'score': 4.4}, {'connected_gene': 'IMPA1', 'score': 4.05}, {'connected_gene': 'LOC105375926', 'score': 0.44}, {'connected_gene': 'ENSG00000253859', 'score': 0.18}]
chr8 GH08I081719 81719914 81722364 1.99 [{'connected_gene': 'ZFAND1', 'score': 550.39}, {'connected_gene': 'IMPA1', 'score': 25.3}, {'connected_gene': 'CHMP4C', 'score': 8.7}, {'connected_gene': 'ENSG00000280193', 'score': 0.34}]
chr8 GH08I081630 81630170 81635456 1.37 [{'connected_gene': 'IMPA1P1', 'score': 550.77}, {'connected_gene': 'IMPA1', 'score': 14.05}, {'connected_gene': 'ZFAND1', 'score': 9.51}, {'connected_gene': 'CHMP4C', 'score': 4.98}, {'connected_gene': 'SLC10A5P1', 'score': 0.77}]
chr8 GH08I081768 81768201 81768600 0.69 [{'connected_gene': 'SNX16', 'score': 14.61}, {'connected_gene': 'IMPA1', 'score': 6.91}, {'connected_gene': 'CHMP4C', 'score': 5.07}, {'connected_gene': 'ENSG00000253334', 'score': 0.34}, {'connected_gene': 'ZFAND1', 'score': 0.28}]
chr8 GH08I081191 81191045 81195736 1.04 [{'connected_gene': 'PAG1', 'score': 14.93}, {'connected_gene': 'LOC105375924', 'score': 6.46}, {'connected_gene': 'IMPA1', 'score': 4.15}, {'connected_gene': 'GC08M081170', 'score': 0.34}, {'connected_gene': 'ENSG00000254014', 'score': 0.23}]
chr8 GH08I081404 81404768 81406048 0.2 [{'connected_gene': 'PMP2', 'score': 19.34}, {'connected_gene': 'IMPA1', 'score': 4.6}, {'connected_gene': 'ENSG00000253859', 'score': 0.29}, {'connected_gene': 'LOC105375926', 'score': 0.25}]
chr8 GH08I081643 81643638 81644492 0.56 [{'connected_gene': 'IMPA1', 'score': 20.79}, {'connected_gene': 'CHMP4C', 'score': 10.97}, {'connected_gene': 'ZFAND1', 'score': 10.97}, {'connected_gene': 'SLC10A5P1', 'score': 0.44}, {'connected_gene': 'GC08P081673', 'score': 0.31}]
chr8 GH08I081708 81708686 81708835 0.49 [{'connected_gene': 'IMPA1', 'score': 12.01}, {'connected_gene': 'ENSG00000280193', 'score': 0.39}, {'connected_gene': 'CHMP4C', 'score': 0.34}, {'connected_gene': 'ZFAND1', 'score': 0.34}]
chr8 GH08I081661 81661963 81664669 0.38 [{'connected_gene': 'IMPA1', 'score': 59.51}, {'connected_gene': 'CHMP4C', 'score': 15.32}, {'connected_gene': 'GC08P081673', 'score': 0.39}, {'connected_gene': 'SLC10A5P1', 'score': 0.31}]
chr8 GH08I081685 81685601 81686935 2.01 [{'connected_gene': 'IMPA1', 'score': 582.32}, {'connected_gene': 'CHMP4C', 'score': 5.84}, {'connected_gene': 'GC08P081673', 'score': 0.39}]
chr8 GH08I081557 81557801 81558615 0.77 [{'connected_gene': 'IMPA1', 'score': 5.73}, {'connected_gene': 'FABP12', 'score': 0.29}, {'connected_gene': 'FTH1P11', 'score': 0.28}, {'connected_gene': 'LOC101927118', 'score': 0.28}]
chr8 GH08I081600 81600326 81600475 0.2 [{'connected_gene': 'IMPA1', 'score': 10.64}, {'connected_gene': 'FABP12', 'score': 0.44}, {'connected_gene': 'NIPA2P4', 'score': 0.37}]
chr8 GH08I081195 81195908 81196240 0.2 [{'connected_gene': 'IMPA1', 'score': 4.15}, {'connected_gene': 'GC08M081170', 'score': 0.34}, {'connected_gene': 'LOC105375924', 'score': 0.26}, {'connected_gene': 'ENSG00000254014', 'score': 0.25}]
chr8 GH08I081667 81667446 81667595 0.2 [{'connected_gene': 'IMPA1', 'score': 15.45}, {'connected_gene': 'GC08P081673', 'score': 0.44}, {'connected_gene': 'SLC10A5P1', 'score': 0.29}]
chr8 GH08I081605 81605776 81606781 0.84 [{'connected_gene': 'IMPA1', 'score': 10.11}, {'connected_gene': 'NIPA2P4', 'score': 0.39}, {'connected_gene': 'FABP12', 'score': 0.37}, {'connected_gene': 'IMPA1P1', 'score': 0.34}]
chr8 GH08I081692 81692851 81695958 1.22 [{'connected_gene': 'ENSG00000280193', 'score': 550.77}, {'connected_gene': 'SLC10A5', 'score': 550.77}, {'connected_gene': 'IMPA1', 'score': 25.85}, {'connected_gene': 'CHMP4C', 'score': 21.07}, {'connected_gene': 'ZFAND1', 'score': 19.21}]

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