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
ENST00000393547 [[42785975, 42786207], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42808383], [42809545, 42809633], [42811457, 42811531], [42814197, 42814234], [42815746, 42815792], [42818703, 42818820], [42824450, 42824559], [42824758, 42824883], [42825708, 42825833], [42827962, 42828045], [42829307, 42829632]] [[42786188, 42786207], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42808383], [42809545, 42809633], [42811457, 42811531], [42814197, 42814234], [42815746, 42815792], [42818703, 42818820], [42824450, 42824559], [42824758, 42824883], [42825708, 42825833], [42827962, 42828045], [42829307, 42829331]]
ENST00000398338 [[42786003, 42786207], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42808383], [42811457, 42811531], [42814197, 42814234], [42815746, 42815792], [42818768, 42818820]] [[42786188, 42786207], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42808383], [42811457, 42811463]]
ENST00000528766 [[42786023, 42786207], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42808586]] None
ENST00000528353 [[42786023, 42786207], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42810245]] None
ENST00000315005 [[42786050, 42786207], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42808383], [42809545, 42809633], [42811457, 42811531], [42814197, 42814234], [42815746, 42815792], [42818703, 42818820], [42824450, 42824559], [42824758, 42824883], [42825708, 42825833], [42827962, 42829632]] [[42786188, 42786207], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42808383], [42809545, 42809633], [42811457, 42811531], [42814197, 42814234], [42815746, 42815792], [42818703, 42818820], [42824450, 42824559], [42824758, 42824883], [42825708, 42825833], [42827962, 42828621]]
ENST00000526924 [[42786065, 42786207], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42808383], [42811457, 42811531], [42814197, 42814234], [42815746, 42815792], [42818703, 42818820], [42824450, 42824559], [42824758, 42824883], [42825708, 42827607]] [[42786188, 42786207], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42808383], [42811457, 42811463]]
ENST00000526915 [[42786095, 42786207], [42800247, 42800390], [42807272, 42807464], [42808332, 42808383], [42811457, 42811521]] None
ENST00000525140 [[42786211, 42786306], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42808614]] None
ENST00000531699 [[42786213, 42786306], [42800247, 42800390], [42807272, 42807464], [42808332, 42808528]] None
ENST00000532789 [[42786229, 42786306], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42808790]] None
ENST00000527862 [[42811026, 42811531], [42814197, 42814234], [42815746, 42815792], [42818703, 42818820], [42824450, 42824559], [42824758, 42824883], [42825708, 42826767]] None
NR_036623 [[42785975, 42786207], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42808383], [42811457, 42811531], [42814197, 42814234], [42815746, 42815792], [42818703, 42818820], [42824450, 42824559], [42824758, 42824883], [42825708, 42827917]] None
NM_025104 [[42785975, 42786207], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42808383], [42809545, 42809633], [42811457, 42811531], [42814197, 42814234], [42815746, 42815792], [42818703, 42818820], [42824450, 42824559], [42824758, 42824883], [42825708, 42825833], [42827962, 42828045], [42829307, 42829637]] [[42786188, 42786207], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42808383], [42809545, 42809633], [42811457, 42811531], [42814197, 42814234], [42815746, 42815792], [42818703, 42818820], [42824450, 42824559], [42824758, 42824883], [42825708, 42825833], [42827962, 42828045], [42829307, 42829331]]
NM_145663 [[42785975, 42786207], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42808383], [42809545, 42809633], [42811457, 42811531], [42814197, 42814234], [42815746, 42815792], [42818703, 42818820], [42824450, 42824559], [42824758, 42824883], [42825708, 42825833], [42827962, 42829637]] [[42786188, 42786207], [42786671, 42786734], [42800247, 42800390], [42807272, 42807464], [42808332, 42808383], [42809545, 42809633], [42811457, 42811531], [42814197, 42814234], [42815746, 42815792], [42818703, 42818820], [42824450, 42824559], [42824758, 42824883], [42825708, 42825833], [42827962, 42828621]]
Promoter
Chrom Start End Description
chr17 42785988 42786039 CAGE_peak_1_at_DBF4B_5end
chr17 42786051 42786066 CAGE_peak_2_at_DBF4B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I044707 44707521 44709813 2.1 [{'connected_gene': 'DBF4B', 'score': 598.99}, {'connected_gene': 'TMUB2', 'score': 56.63}, {'connected_gene': 'ASB16-AS1', 'score': 55.7}, {'connected_gene': 'ENSG00000224505', 'score': 33.35}, {'connected_gene': 'EFTUD2', 'score': 32.28}, {'connected_gene': 'UBTF', 'score': 28.47}, {'connected_gene': 'C17orf53', 'score': 22.53}, {'connected_gene': 'MAP3K14-AS1', 'score': 19.33}, {'connected_gene': 'HEXIM1', 'score': 11.45}, {'connected_gene': 'MAP3K14', 'score': 11.42}, {'connected_gene': 'ENSG00000260793', 'score': 10.93}, {'connected_gene': 'GJC1', 'score': 10.41}, {'connected_gene': 'PLEKHM1', 'score': 9.86}, {'connected_gene': 'LRRC37A4P', 'score': 9.73}, {'connected_gene': 'FAM187A', 'score': 6.45}, {'connected_gene': 'GC17M044689', 'score': 0.77}]
chr17 GH17I044607 44607768 44609446 1.06 [{'connected_gene': 'DBF4B', 'score': 18.92}, {'connected_gene': 'ADAM11', 'score': 10.09}, {'connected_gene': 'ENSG00000271222', 'score': 0.39}, {'connected_gene': 'GC17P044631', 'score': 0.37}]
chr17 GH17I044598 44598800 44600791 0.96 [{'connected_gene': 'DBF4B', 'score': 25.33}, {'connected_gene': 'ASB16-AS1', 'score': 16.09}, {'connected_gene': 'UBTF', 'score': 15.19}, {'connected_gene': 'MPP2', 'score': 11.75}, {'connected_gene': 'MEIOC', 'score': 11.45}, {'connected_gene': 'TMUB2', 'score': 11.25}, {'connected_gene': 'ENSG00000266918', 'score': 10.58}, {'connected_gene': 'LINC01180', 'score': 5.89}, {'connected_gene': 'ENSG00000271222', 'score': 0.77}, {'connected_gene': 'GC17P044631', 'score': 0.31}]
chr17 GH17I044627 44627154 44629242 0.89 [{'connected_gene': 'DBF4B', 'score': 34.29}, {'connected_gene': 'MEIOC', 'score': 11.89}, {'connected_gene': 'FZD2', 'score': 11.56}, {'connected_gene': 'GC17P044631', 'score': 0.77}, {'connected_gene': 'GC17P044640', 'score': 0.44}]
chr17 GH17I044774 44774413 44776482 1.51 [{'connected_gene': 'DBF4B', 'score': 28.65}, {'connected_gene': 'GJC1', 'score': 11.49}, {'connected_gene': 'C1QL1', 'score': 10.09}, {'connected_gene': 'FAM187A', 'score': 8.78}, {'connected_gene': 'EFTUD2', 'score': 7.33}, {'connected_gene': 'ENSG00000267505', 'score': 6.73}, {'connected_gene': 'GC17P044768', 'score': 0.44}, {'connected_gene': 'ADAM11', 'score': 0.37}]
chr17 GH17I044603 44603981 44605792 0.43 [{'connected_gene': 'DBF4B', 'score': 15.14}, {'connected_gene': 'LINC01180', 'score': 6.4}, {'connected_gene': 'FAM187A', 'score': 6.34}, {'connected_gene': 'ADAM11', 'score': 6.3}, {'connected_gene': 'EFTUD2', 'score': 6.14}, {'connected_gene': 'ENSG00000271222', 'score': 0.44}, {'connected_gene': 'GC17P044631', 'score': 0.34}]
chr17 GH17I044610 44610953 44611102 0.2 [{'connected_gene': 'DBF4B', 'score': 15.07}, {'connected_gene': 'LINC01180', 'score': 7.1}, {'connected_gene': 'GC17P044631', 'score': 0.39}, {'connected_gene': 'ENSG00000271222', 'score': 0.39}]
chr17 GH17I044786 44786310 44787943 0.31 [{'connected_gene': 'DBF4B', 'score': 10.84}, {'connected_gene': 'ENSG00000267505', 'score': 0.44}, {'connected_gene': 'GC17P044768', 'score': 0.37}, {'connected_gene': 'GC17M044778', 'score': 0.26}]
chr17 GH17I044609 44609738 44609822 0.31 [{'connected_gene': 'DBF4B', 'score': 14.87}, {'connected_gene': 'ENSG00000271222', 'score': 0.39}, {'connected_gene': 'GC17P044631', 'score': 0.37}]
chr17 GH17I044214 44214255 44224189 2.27 [{'connected_gene': 'UBTF', 'score': 550.77}, {'connected_gene': 'ENSG00000260793', 'score': 10.1}, {'connected_gene': 'ASB16-AS1', 'score': 9.16}, {'connected_gene': 'DBF4B', 'score': 4.2}, {'connected_gene': 'MIR6782', 'score': 0.39}, {'connected_gene': 'ENSG00000267394', 'score': 0.34}, {'connected_gene': 'LOC101926967', 'score': 0.34}]
chr17 GH17I044977 44977180 44982418 1.34 [{'connected_gene': 'UBTF', 'score': 38.91}, {'connected_gene': 'LINC02210', 'score': 26.79}, {'connected_gene': 'GJC1', 'score': 21.82}, {'connected_gene': 'NMT1', 'score': 20.89}, {'connected_gene': 'EFTUD2', 'score': 19.18}, {'connected_gene': 'MAP3K14-AS1', 'score': 19.11}, {'connected_gene': 'LRRC37A4P', 'score': 17.77}, {'connected_gene': 'ASB16-AS1', 'score': 14.37}, {'connected_gene': 'ENSG00000266918', 'score': 13.57}, {'connected_gene': 'KIF18B', 'score': 12.24}, {'connected_gene': 'C17orf53', 'score': 11.92}, {'connected_gene': 'FAM171A2', 'score': 11.8}, {'connected_gene': 'GFAP', 'score': 11.59}, {'connected_gene': 'GPATCH8', 'score': 10.63}, {'connected_gene': 'ENSG00000267160', 'score': 10.57}, {'connected_gene': 'DCAKD', 'score': 10.44}, {'connected_gene': 'HEXIM2', 'score': 10.38}, {'connected_gene': 'ADAM11', 'score': 9.89}, {'connected_gene': 'DBF4B', 'score': 8.71}, {'connected_gene': 'ACBD4', 'score': 5.49}, {'connected_gene': 'FAM187A', 'score': 5.0}, {'connected_gene': 'GC17P044983', 'score': 0.77}, {'connected_gene': 'C1QL1', 'score': 0.39}, {'connected_gene': 'GC17P044954', 'score': 0.34}]
chr17 GH17I044197 44197228 44201521 2.58 [{'connected_gene': 'ATXN7L3', 'score': 552.22}, {'connected_gene': 'GC17M044204', 'score': 550.77}, {'connected_gene': 'LOC101926967', 'score': 550.77}, {'connected_gene': 'PIR47424', 'score': 550.77}, {'connected_gene': 'ENSG00000267394', 'score': 550.77}, {'connected_gene': 'DBF4B', 'score': 13.38}, {'connected_gene': 'ASB16-AS1', 'score': 12.21}, {'connected_gene': 'DCAKD', 'score': 12.02}, {'connected_gene': 'UBTF', 'score': 11.91}, {'connected_gene': 'DHX8', 'score': 11.15}, {'connected_gene': 'TMUB2', 'score': 9.82}, {'connected_gene': 'GRN', 'score': 8.11}, {'connected_gene': 'LINC00854', 'score': 5.06}, {'connected_gene': 'NAGS', 'score': 4.1}, {'connected_gene': 'TMEM101', 'score': 2.13}, {'connected_gene': 'HDAC5', 'score': 2.11}, {'connected_gene': 'G6PC3', 'score': 1.44}]
chr17 GH17I044511 44511201 44512528 1.37 [{'connected_gene': 'SLC25A39', 'score': 5.64}, {'connected_gene': 'C17orf53', 'score': 1.57}, {'connected_gene': 'GJC1', 'score': 1.45}, {'connected_gene': 'MEIOC', 'score': 1.42}, {'connected_gene': 'CCDC43', 'score': 1.38}, {'connected_gene': 'DBF4B', 'score': 1.38}, {'connected_gene': 'GPATCH8', 'score': 0.44}, {'connected_gene': 'PIR44449', 'score': 0.37}]
chr17 GH17I044781 44781358 44783032 0.94 [{'connected_gene': 'ADAM11', 'score': 20.47}, {'connected_gene': 'DBF4B', 'score': 13.61}, {'connected_gene': 'GJC1', 'score': 12.67}, {'connected_gene': 'HIGD1B', 'score': 12.02}, {'connected_gene': 'EFTUD2', 'score': 11.27}, {'connected_gene': 'CCDC103', 'score': 11.27}, {'connected_gene': 'FAM187A', 'score': 11.27}, {'connected_gene': 'GFAP', 'score': 11.15}, {'connected_gene': 'MEIOC', 'score': 10.45}, {'connected_gene': 'C1QL1', 'score': 10.24}, {'connected_gene': 'ENSG00000267505', 'score': 7.12}, {'connected_gene': 'GC17P044768', 'score': 0.39}, {'connected_gene': 'GC17M044778', 'score': 0.25}]
chr17 GH17I044758 44758800 44759401 1.45 [{'connected_gene': 'ADAM11', 'score': 550.77}, {'connected_gene': 'GC17P044768', 'score': 0.44}, {'connected_gene': 'DBF4B', 'score': 0.23}]
chr17 GH17I044569 44569178 44569760 0.76 [{'connected_gene': 'MEIOC', 'score': 10.76}, {'connected_gene': 'DBF4B', 'score': 9.01}, {'connected_gene': 'GC17M044558', 'score': 0.39}, {'connected_gene': 'ENSG00000271222', 'score': 0.31}]
chr17 GH17I044554 44554993 44561476 2.53 [{'connected_gene': 'FZD2', 'score': 553.05}, {'connected_gene': 'GC17M044558', 'score': 550.77}, {'connected_gene': 'DBF4B', 'score': 12.41}, {'connected_gene': 'C17orf53', 'score': 11.94}, {'connected_gene': 'MPP2', 'score': 11.76}, {'connected_gene': 'EFTUD2', 'score': 10.94}, {'connected_gene': 'UBTF', 'score': 10.05}, {'connected_gene': 'MAP3K14-AS1', 'score': 10.04}, {'connected_gene': 'LRRC37A4P', 'score': 9.73}, {'connected_gene': 'GRN', 'score': 8.73}, {'connected_gene': 'GJC1', 'score': 4.64}, {'connected_gene': 'TMUB2', 'score': 2.34}]
chr17 GH17I044687 44687595 44691282 2.1 [{'connected_gene': 'CCDC43', 'score': 550.77}, {'connected_gene': 'ENSG00000279879', 'score': 550.77}, {'connected_gene': 'DBF4B', 'score': 36.42}, {'connected_gene': 'TMUB2', 'score': 25.96}, {'connected_gene': 'UBTF', 'score': 25.4}, {'connected_gene': 'ASB16-AS1', 'score': 22.23}, {'connected_gene': 'GPATCH8', 'score': 20.94}, {'connected_gene': 'ENSG00000224505', 'score': 12.41}, {'connected_gene': 'ENSG00000260793', 'score': 11.48}, {'connected_gene': 'MEIOC', 'score': 11.26}, {'connected_gene': 'LINC02210', 'score': 10.76}, {'connected_gene': 'LOC105371792', 'score': 0.39}, {'connected_gene': 'GC17M044689', 'score': 0.34}]
chr17 GH17I045143 45143150 45152743 2.65 [{'connected_gene': 'HEXIM1', 'score': 581.29}, {'connected_gene': 'GC17M045149', 'score': 550.77}, {'connected_gene': 'ENSG00000276728', 'score': 550.77}, {'connected_gene': 'ENSG00000262372', 'score': 138.63}, {'connected_gene': 'ASB16-AS1', 'score': 125.41}, {'connected_gene': 'UBTF', 'score': 110.84}, {'connected_gene': 'TMUB2', 'score': 94.15}, {'connected_gene': 'ENSG00000224505', 'score': 44.16}, {'connected_gene': 'LINC02210', 'score': 40.81}, {'connected_gene': 'MAP3K14-AS1', 'score': 29.68}, {'connected_gene': 'EFTUD2', 'score': 27.46}, {'connected_gene': 'ENSG00000260793', 'score': 24.07}, {'connected_gene': 'DCAKD', 'score': 21.93}, {'connected_gene': 'LRRC37A4P', 'score': 18.18}, {'connected_gene': 'ENSG00000266918', 'score': 16.98}, {'connected_gene': 'FAM171A2', 'score': 11.8}, {'connected_gene': 'FMNL1', 'score': 11.43}, {'connected_gene': 'ENSG00000233175', 'score': 11.36}, {'connected_gene': 'ENSG00000267160', 'score': 11.12}, {'connected_gene': 'DBF4B', 'score': 11.02}, {'connected_gene': 'ENSG00000267344', 'score': 10.96}, {'connected_gene': 'NMT1', 'score': 10.59}, {'connected_gene': 'GPATCH8', 'score': 10.31}, {'connected_gene': 'ADAM11', 'score': 9.87}, {'connected_gene': 'PLCD3', 'score': 5.62}, {'connected_gene': 'SLC25A39', 'score': 5.42}, {'connected_gene': 'MAPK8IP1P2', 'score': 4.59}, {'connected_gene': 'ENSG00000267505', 'score': 4.54}, {'connected_gene': 'ACBD4', 'score': 1.95}]
chr17 GH17I045168 45168842 45174627 1.64 [{'connected_gene': 'LOC105371795', 'score': 557.31}, {'connected_gene': 'LINC02210', 'score': 18.24}, {'connected_gene': 'DCAKD', 'score': 10.44}, {'connected_gene': 'UBTF', 'score': 9.85}, {'connected_gene': 'GPATCH8', 'score': 9.65}, {'connected_gene': 'HEXIM1', 'score': 8.84}, {'connected_gene': 'SLC25A39', 'score': 6.45}, {'connected_gene': 'PLCD3', 'score': 6.1}, {'connected_gene': 'DBF4B', 'score': 5.45}, {'connected_gene': 'ADAM11', 'score': 2.55}, {'connected_gene': 'HIGD1B', 'score': 1.48}, {'connected_gene': 'GFAP', 'score': 1.32}, {'connected_gene': 'HEXIM2', 'score': 0.39}, {'connected_gene': 'ENSG00000224505', 'score': 0.39}]
chr17 GH17I044720 44720613 44720880 0.3 [{'connected_gene': 'RPL6P26', 'score': 550.77}, {'connected_gene': 'RN7SL819P', 'score': 550.77}, {'connected_gene': 'GC17M044720', 'score': 550.77}, {'connected_gene': 'CCDC43', 'score': 12.09}, {'connected_gene': 'MEIOC', 'score': 11.03}, {'connected_gene': 'HIGD1B', 'score': 10.82}, {'connected_gene': 'DBF4B', 'score': 0.39}, {'connected_gene': 'PIR61260', 'score': 0.31}]
chr17 GH17I044749 44749409 44750357 0.38 [{'connected_gene': 'PIR61260', 'score': 550.77}, {'connected_gene': 'DBF4B', 'score': 27.92}, {'connected_gene': 'HIGD1B', 'score': 11.35}, {'connected_gene': 'GJC1', 'score': 11.02}, {'connected_gene': 'GFAP', 'score': 10.57}, {'connected_gene': 'CCDC43', 'score': 10.34}, {'connected_gene': 'MEIOC', 'score': 10.21}, {'connected_gene': 'FZD2', 'score': 5.88}, {'connected_gene': 'ADAM11', 'score': 0.44}]
chr17 GH17I044642 44642356 44643920 0.52 [{'connected_gene': 'GC17P044647', 'score': 550.77}, {'connected_gene': 'DBF4B', 'score': 14.71}, {'connected_gene': 'MPP2', 'score': 14.08}, {'connected_gene': 'UBTF', 'score': 11.89}, {'connected_gene': 'FAM171A2', 'score': 11.84}, {'connected_gene': 'NMT1', 'score': 10.49}, {'connected_gene': 'ADAM11', 'score': 9.95}, {'connected_gene': 'GC17P044640', 'score': 0.44}]
chr17 GH17I044946 44946295 44948611 2.06 [{'connected_gene': 'ENSG00000267334', 'score': 550.77}, {'connected_gene': 'KIF18B', 'score': 550.77}, {'connected_gene': 'EFTUD2', 'score': 26.48}, {'connected_gene': 'TMUB2', 'score': 19.07}, {'connected_gene': 'ASB16-AS1', 'score': 18.31}, {'connected_gene': 'MAP3K14', 'score': 11.44}, {'connected_gene': 'ENSG00000224505', 'score': 10.78}, {'connected_gene': 'GPATCH8', 'score': 10.73}, {'connected_gene': 'GJC1', 'score': 10.41}, {'connected_gene': 'UBTF', 'score': 10.04}, {'connected_gene': 'PLEKHM1', 'score': 9.86}, {'connected_gene': 'FAM187A', 'score': 7.2}, {'connected_gene': 'DBF4B', 'score': 6.25}, {'connected_gene': 'MIR6783', 'score': 0.39}]
chr17 GH17I044677 44677273 44677422 0.31 [{'connected_gene': 'ENSG00000267160', 'score': 550.77}, {'connected_gene': 'LOC105371792', 'score': 550.77}, {'connected_gene': 'DBF4B', 'score': 11.96}, {'connected_gene': 'MEIOC', 'score': 11.78}, {'connected_gene': 'GFAP', 'score': 9.78}, {'connected_gene': 'CCDC43', 'score': 0.39}]
chr17 GH17I044738 44738513 44738742 0.56 [{'connected_gene': 'PIR61260', 'score': 0.44}, {'connected_gene': 'RPL6P26', 'score': 0.37}, {'connected_gene': 'DBF4B', 'score': 0.29}]

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