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
ENST00000304222 [[15848230, 15848897], [15877992, 15879060]] [[15848562, 15848897], [15877992, 15878656]]
ENST00000582124 [[15877176, 15879051]] None
NM_000676 [[15848230, 15848897], [15877992, 15879210]] [[15848562, 15848897], [15877992, 15878656]]
Promoter
Chrom Start End Description
chr17 15848414 15848452 CAGE_peak_2_at_ADORA2B_5end
chr17 15848544 15848624 CAGE_peak_1_at_ADORA2B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I015968 15968300 15969095 0.49 [{'connected_gene': 'TTC19', 'score': 6.78}, {'connected_gene': 'PIR48319', 'score': 0.39}, {'connected_gene': 'ADORA2B', 'score': 0.26}]
chr17 GH17I016414 16414853 16421125 2.21 [{'connected_gene': 'TRPV2', 'score': 578.2}, {'connected_gene': 'ENSG00000264739', 'score': 550.77}, {'connected_gene': 'ZSWIM7', 'score': 10.79}, {'connected_gene': 'NCOR1', 'score': 10.7}, {'connected_gene': 'FLCN', 'score': 9.92}, {'connected_gene': 'ADORA2B', 'score': 6.39}, {'connected_gene': 'CENPV', 'score': 6.08}, {'connected_gene': 'PIGL', 'score': 5.74}, {'connected_gene': 'CDRT1', 'score': 5.21}, {'connected_gene': 'ENSG00000239203', 'score': 0.44}]
chr17 GH17I016105 16105757 16106907 0.57 [{'connected_gene': 'ADORA2B', 'score': 7.95}, {'connected_gene': 'PIGL', 'score': 6.48}, {'connected_gene': 'CDRT4', 'score': 5.38}, {'connected_gene': 'RNU6-314P', 'score': 0.44}, {'connected_gene': 'RNU6-862P', 'score': 0.29}, {'connected_gene': 'GC17M016137', 'score': 0.29}, {'connected_gene': 'NCOR1', 'score': 0.14}]
chr17 GH17I015892 15892190 15893709 0.91 [{'connected_gene': 'ADORA2B', 'score': 27.47}, {'connected_gene': 'TTC19', 'score': 11.63}, {'connected_gene': 'ZSWIM7', 'score': 11.63}, {'connected_gene': 'MEIS3P1', 'score': 11.15}, {'connected_gene': 'GC17P015909', 'score': 0.37}, {'connected_gene': 'GC17P015908', 'score': 0.37}, {'connected_gene': 'GC17P015867', 'score': 0.31}, {'connected_gene': 'LOC100418862', 'score': 0.21}]
chr17 GH17I015927 15927925 15929000 0.84 [{'connected_gene': 'ADORA2B', 'score': 550.77}, {'connected_gene': 'TTC19', 'score': 11.34}, {'connected_gene': 'ENSG00000265519', 'score': 8.95}, {'connected_gene': 'GC17P015935', 'score': 0.44}]
chr17 GH17I015883 15883600 15884239 1.24 [{'connected_gene': 'ADORA2B', 'score': 15.65}, {'connected_gene': 'MEIS3P1', 'score': 11.4}, {'connected_gene': 'ZSWIM7', 'score': 1.97}, {'connected_gene': 'TTC19', 'score': 1.77}, {'connected_gene': 'GC17P015867', 'score': 0.37}, {'connected_gene': 'GC17P015909', 'score': 0.34}, {'connected_gene': 'GC17P015908', 'score': 0.34}, {'connected_gene': 'LOC100418862', 'score': 0.23}]
chr17 GH17I015944 15944350 15948919 2.51 [{'connected_gene': 'ADORA2B', 'score': 551.85}, {'connected_gene': 'ZSWIM7', 'score': 20.19}, {'connected_gene': 'TTC19', 'score': 13.34}, {'connected_gene': 'PIGL', 'score': 5.36}, {'connected_gene': 'MEIS3P1', 'score': 5.05}, {'connected_gene': 'GC17P015935', 'score': 0.39}, {'connected_gene': 'PIR48319', 'score': 0.39}]
chr17 GH17I015919 15919571 15922279 1.1 [{'connected_gene': 'ADORA2B', 'score': 12.57}, {'connected_gene': 'ENSG00000265519', 'score': 11.52}, {'connected_gene': 'ZSWIM7', 'score': 11.38}, {'connected_gene': 'TTC19', 'score': 11.38}, {'connected_gene': 'MEIS3P1', 'score': 5.66}, {'connected_gene': 'GC17P015908', 'score': 0.39}, {'connected_gene': 'GC17P015909', 'score': 0.39}]
chr17 GH17I015913 15913886 15915436 0.94 [{'connected_gene': 'ADORA2B', 'score': 16.14}, {'connected_gene': 'ZSWIM7', 'score': 13.06}, {'connected_gene': 'TTC19', 'score': 12.88}, {'connected_gene': 'GC17P015908', 'score': 0.44}, {'connected_gene': 'GC17P015909', 'score': 0.44}]
chr17 GH17I015897 15897443 15898235 0.51 [{'connected_gene': 'ADORA2B', 'score': 15.88}, {'connected_gene': 'GC17P015908', 'score': 0.39}, {'connected_gene': 'GC17P015909', 'score': 0.39}, {'connected_gene': 'GC17P015867', 'score': 0.29}, {'connected_gene': 'LOC100418862', 'score': 0.2}]
chr17 GH17I015884 15882207 15882356 0.54 [{'connected_gene': 'ADORA2B', 'score': 15.95}, {'connected_gene': 'GC17P015867', 'score': 0.37}, {'connected_gene': 'GC17P015908', 'score': 0.31}, {'connected_gene': 'GC17P015909', 'score': 0.31}, {'connected_gene': 'LOC100418862', 'score': 0.23}]
chr17 GH17I015943 15942273 15943000 0.46 [{'connected_gene': 'ADORA2B', 'score': 6.51}, {'connected_gene': 'GC17P015935', 'score': 0.44}, {'connected_gene': 'PIR48319', 'score': 0.39}]
chr17 GH17I015951 15951308 15952173 0.49 [{'connected_gene': 'ZSWIM7', 'score': 17.32}, {'connected_gene': 'TTC19', 'score': 11.88}, {'connected_gene': 'PIGL', 'score': 6.58}, {'connected_gene': 'PIR48319', 'score': 0.44}, {'connected_gene': 'GC17P015935', 'score': 0.37}, {'connected_gene': 'ADORA2B', 'score': 0.34}]
chr17 GH17I015949 15949749 15950795 0.38 [{'connected_gene': 'ZSWIM7', 'score': 12.03}, {'connected_gene': 'TTC19', 'score': 12.03}, {'connected_gene': 'MEIS3P1', 'score': 5.02}, {'connected_gene': 'PIR48319', 'score': 0.44}, {'connected_gene': 'GC17P015935', 'score': 0.39}, {'connected_gene': 'ADORA2B', 'score': 0.34}]
chr17 GH17I015952 15952483 15955574 0.99 [{'connected_gene': 'ZSWIM7', 'score': 11.88}, {'connected_gene': 'TTC19', 'score': 11.88}, {'connected_gene': 'ENSG00000265519', 'score': 7.56}, {'connected_gene': 'ADORA2B', 'score': 7.09}, {'connected_gene': 'MEIS3P1', 'score': 6.43}, {'connected_gene': 'PIGL', 'score': 4.64}, {'connected_gene': 'PIR48319', 'score': 0.77}, {'connected_gene': 'GC17P015935', 'score': 0.37}]
chr17 GH17I015972 15972860 15973575 0.72 [{'connected_gene': 'ZSWIM7', 'score': 65.36}, {'connected_gene': 'PIR48319', 'score': 0.37}, {'connected_gene': 'TTC19', 'score': 0.31}, {'connected_gene': 'ADORA2B', 'score': 0.25}]
chr17 GH17I015910 15910907 15911056 0.31 [{'connected_gene': 'ZSWIM7', 'score': 11.62}, {'connected_gene': 'TTC19', 'score': 11.62}, {'connected_gene': 'GC17P015908', 'score': 0.77}, {'connected_gene': 'GC17P015909', 'score': 0.77}, {'connected_gene': 'ADORA2B', 'score': 0.37}]
chr17 GH17I015970 15970557 15971950 0.49 [{'connected_gene': 'ZSWIM7', 'score': 50.26}, {'connected_gene': 'TTC19', 'score': 6.95}, {'connected_gene': 'PIR48319', 'score': 0.39}, {'connected_gene': 'ADORA2B', 'score': 0.26}]
chr17 GH17I015961 15961095 15961806 0.4 [{'connected_gene': 'ZSWIM7', 'score': 12.57}, {'connected_gene': 'TTC19', 'score': 12.57}, {'connected_gene': 'RNU6-314P', 'score': 9.63}, {'connected_gene': 'NCOR1', 'score': 9.58}, {'connected_gene': 'PIR48319', 'score': 0.77}, {'connected_gene': 'ADORA2B', 'score': 0.29}]
chr17 GH17I016293 16293549 16301054 1.15 [{'connected_gene': 'ZSWIM7', 'score': 28.31}, {'connected_gene': 'CENPV', 'score': 21.95}, {'connected_gene': 'PIGL', 'score': 12.7}, {'connected_gene': 'NCOR1', 'score': 10.55}, {'connected_gene': 'RNU6-314P', 'score': 10.36}, {'connected_gene': 'LRRC75A', 'score': 10.16}, {'connected_gene': 'ADORA2B', 'score': 8.13}, {'connected_gene': 'TTC19', 'score': 5.67}, {'connected_gene': 'MIR1288', 'score': 0.37}, {'connected_gene': 'GC17M016316', 'score': 0.34}]
chr17 GH17I015962 15962301 15968058 1.49 [{'connected_gene': 'ZSWIM7', 'score': 70.99}, {'connected_gene': 'ADORA2B', 'score': 45.01}, {'connected_gene': 'TTC19', 'score': 19.36}, {'connected_gene': 'RNU6-314P', 'score': 9.63}, {'connected_gene': 'NCOR1', 'score': 9.58}, {'connected_gene': 'CDRT1', 'score': 7.06}, {'connected_gene': 'PIR48319', 'score': 0.44}]
chr17 GH17I015882 15882447 15882623 0.74 [{'connected_gene': 'ZSWIM7', 'score': 1.73}, {'connected_gene': 'ADORA2B', 'score': 1.71}, {'connected_gene': 'TTC19', 'score': 1.38}, {'connected_gene': 'GC17P015867', 'score': 0.37}, {'connected_gene': 'GC17P015908', 'score': 0.31}, {'connected_gene': 'GC17P015909', 'score': 0.31}, {'connected_gene': 'LOC100418862', 'score': 0.23}]
chr17 GH17I015980 15980388 15983080 1.25 [{'connected_gene': 'ZSWIM7', 'score': 66.09}, {'connected_gene': 'ADORA2B', 'score': 12.61}, {'connected_gene': 'TTC19', 'score': 6.64}, {'connected_gene': 'PIR48319', 'score': 0.34}]
chr17 GH17I016002 16002622 16003409 0.2 [{'connected_gene': 'ZSWIM7', 'score': 42.14}, {'connected_gene': 'ADORA2B', 'score': 11.56}, {'connected_gene': 'ENSG00000227782', 'score': 10.9}, {'connected_gene': 'RPLP1P11', 'score': 10.89}, {'connected_gene': 'RNU6-314P', 'score': 10.45}, {'connected_gene': 'NCOR1', 'score': 10.38}, {'connected_gene': 'RNU6-862P', 'score': 10.27}, {'connected_gene': 'TTC19', 'score': 7.19}, {'connected_gene': 'GC17M016015', 'score': 0.39}]
chr17 GH17I016231 16231325 16233851 0.51 [{'connected_gene': 'ZSWIM7', 'score': 37.07}, {'connected_gene': 'MIR1288', 'score': 11.61}, {'connected_gene': 'ADORA2B', 'score': 6.06}, {'connected_gene': 'NCOR1', 'score': 0.39}, {'connected_gene': 'PIGL', 'score': 0.37}, {'connected_gene': 'GC17M016250', 'score': 0.37}]
chr17 GH17I016909 16909360 16912731 0.4 [{'connected_gene': 'LINC02090', 'score': 12.44}, {'connected_gene': 'TBC1D27P', 'score': 8.42}, {'connected_gene': 'KRT17P4', 'score': 7.85}, {'connected_gene': 'ADORA2B', 'score': 4.4}, {'connected_gene': 'ENSG00000265853', 'score': 0.37}]
chr17 GH17I015847 15847115 15848619 0.63 [{'connected_gene': 'LOC105371557', 'score': 550.77}, {'connected_gene': 'ADORA2B', 'score': 14.87}, {'connected_gene': 'ENSG00000265519', 'score': 14.34}, {'connected_gene': 'LOC100418862', 'score': 0.37}]
chr17 GH17I015828 15828630 15829200 0.79 [{'connected_gene': 'LOC100418862', 'score': 550.77}, {'connected_gene': 'ZSWIM7', 'score': 12.53}, {'connected_gene': 'TTC19', 'score': 12.53}, {'connected_gene': 'ADORA2B', 'score': 11.99}, {'connected_gene': 'LINC02087', 'score': 0.39}]
chr17 GH17I015832 15832868 15833896 0.2 [{'connected_gene': 'ENSG00000265519', 'score': 19.77}, {'connected_gene': 'MEIS3P1', 'score': 14.88}, {'connected_gene': 'ZSWIM7', 'score': 12.54}, {'connected_gene': 'TTC19', 'score': 12.54}, {'connected_gene': 'ADORA2B', 'score': 11.99}, {'connected_gene': 'LOC100418862', 'score': 0.77}, {'connected_gene': 'LOC105371557', 'score': 0.39}]
chr17 GH17I015942 15942001 15942200 0.49 [{'connected_gene': 'GC17P015935', 'score': 0.44}, {'connected_gene': 'PIR48319', 'score': 0.39}, {'connected_gene': 'ADORA2B', 'score': 0.39}]
chr17 GH17I016245 16245982 16251925 1.22 [{'connected_gene': 'GC17M016250', 'score': 550.77}, {'connected_gene': 'ZSWIM7', 'score': 32.28}, {'connected_gene': 'PIGL', 'score': 12.52}, {'connected_gene': 'NCOR1', 'score': 12.52}, {'connected_gene': 'MIR1288', 'score': 12.38}, {'connected_gene': 'RNU6-314P', 'score': 10.37}, {'connected_gene': 'ADORA2B', 'score': 6.13}, {'connected_gene': 'TTC19', 'score': 5.01}, {'connected_gene': 'GC17M016251', 'score': 0.77}]
chr17 GH17I015830 15830827 15831921 1.02 [{'connected_gene': 'ENSG00000265519', 'score': 20.0}, {'connected_gene': 'ZSWIM7', 'score': 12.54}, {'connected_gene': 'TTC19', 'score': 12.54}, {'connected_gene': 'ADORA2B', 'score': 11.99}, {'connected_gene': 'PIGL', 'score': 5.43}, {'connected_gene': 'LOC100418862', 'score': 0.77}, {'connected_gene': 'LOC105371557', 'score': 0.37}]
chr17 GH17I015955 15955886 15960298 1.72 [{'connected_gene': 'PIR48319', 'score': 550.77}, {'connected_gene': 'ZSWIM7', 'score': 14.18}, {'connected_gene': 'TTC19', 'score': 13.96}, {'connected_gene': 'RNU6-314P', 'score': 9.62}, {'connected_gene': 'NCOR1', 'score': 9.58}, {'connected_gene': 'PIGL', 'score': 6.26}, {'connected_gene': 'ADORA2B', 'score': 2.01}]
chr17 GH17I016254 16254446 16257701 1.02 [{'connected_gene': 'GC17P016256', 'score': 550.77}, {'connected_gene': 'ZSWIM7', 'score': 35.02}, {'connected_gene': 'MIR1288', 'score': 12.4}, {'connected_gene': 'NCOR1', 'score': 11.02}, {'connected_gene': 'RNU6-314P', 'score': 10.37}, {'connected_gene': 'PIGL', 'score': 10.34}, {'connected_gene': 'ADORA2B', 'score': 5.62}, {'connected_gene': 'TTC19', 'score': 4.92}, {'connected_gene': 'GC17M016251', 'score': 0.77}]