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
ENST00000552564 [[54789044, 54790160], [54791148, 54791271], [54792380, 54792482], [54793428, 54794779], [54795156, 54795262], [54795368, 54795449], [54795559, 54795639], [54795784, 54795877], [54795963, 54796114], [54796766, 54796834], [54796970, 54797563], [54797694, 54797750], [54797928, 54798030], [54798213, 54798678], [54798949, 54799158], [54799447, 54799500], [54799653, 54799900]] None
ENST00000293379 [[54789044, 54790160], [54791148, 54791271], [54792380, 54792482], [54793428, 54793542], [54793647, 54793731], [54794629, 54794779], [54795156, 54795262], [54795368, 54795449], [54795559, 54795639], [54795784, 54795877], [54795963, 54796114], [54796766, 54796834], [54796970, 54797108], [54797408, 54797563], [54797694, 54797750], [54797928, 54798030], [54798213, 54798259], [54798486, 54798678], [54798949, 54799158], [54799447, 54799500], [54799653, 54799710], [54801432, 54801476], [54801615, 54801660], [54801893, 54802019], [54802539, 54802585], [54802676, 54802738], [54803015, 54803136], [54803268, 54803381], [54805617, 54805748], [54812764, 54813244]] [[54790076, 54790160], [54791148, 54791271], [54792380, 54792482], [54793428, 54793542], [54793647, 54793731], [54794629, 54794779], [54795156, 54795262], [54795368, 54795449], [54795559, 54795639], [54795784, 54795877], [54795963, 54796114], [54796766, 54796834], [54796970, 54797108], [54797408, 54797563], [54797694, 54797750], [54797928, 54798030], [54798213, 54798259], [54798486, 54798678], [54798949, 54799158], [54799447, 54799500], [54799653, 54799710], [54801432, 54801476], [54801615, 54801660], [54801893, 54802019], [54802539, 54802585], [54802676, 54802738], [54803015, 54803136], [54803268, 54803381], [54805617, 54805748], [54812764, 54812982]]
ENST00000547197 [[54789678, 54790160], [54791148, 54791271], [54792380, 54792482], [54793647, 54793697]] [[54790076, 54790160], [54791148, 54791271], [54792380, 54792482], [54793647, 54793697]]
ENST00000549601 [[54790005, 54790160], [54791148, 54791271], [54792380, 54792607]] None
ENST00000552431 [[54791054, 54791271], [54792380, 54792482], [54793428, 54793697]] None
ENST00000552387 [[54791149, 54791271], [54792380, 54792482], [54793428, 54793542], [54793647, 54794642]] None
ENST00000552583 [[54795343, 54795639], [54795784, 54796056]] None
ENST00000551564 [[54795864, 54795877], [54795963, 54796114], [54796766, 54796956]] None
ENST00000550141 [[54797415, 54797563], [54797694, 54798128]] None
ENST00000551861 [[54797699, 54797750], [54797928, 54798413]] None
ENST00000435631 [[54798554, 54798678], [54798949, 54799158], [54799447, 54799500], [54799653, 54799710], [54801432, 54801476], [54801615, 54801660], [54801893, 54802019], [54802539, 54802585], [54802676, 54802738], [54803015, 54803136], [54803268, 54803381], [54812764, 54813004]] [[54803053, 54803136], [54803268, 54803381], [54812764, 54812982]]
ENST00000553071 [[54798977, 54799158], [54799447, 54799500], [54799653, 54799710], [54801432, 54801476], [54801615, 54801660], [54801893, 54802019], [54802539, 54802585], [54802676, 54802738], [54803015, 54803136], [54805617, 54805748], [54812764, 54812911]] [[54803053, 54803136], [54805617, 54805748], [54812764, 54812911]]
ENST00000547744 [[54805691, 54805748], [54806094, 54806300], [54806928, 54807212]] None
NM_002205 [[54789044, 54790160], [54791148, 54791271], [54792380, 54792482], [54793428, 54793542], [54793647, 54793731], [54794629, 54794779], [54795156, 54795262], [54795368, 54795449], [54795559, 54795639], [54795784, 54795877], [54795963, 54796114], [54796766, 54796834], [54796970, 54797108], [54797408, 54797563], [54797694, 54797750], [54797928, 54798030], [54798213, 54798259], [54798486, 54798678], [54798949, 54799158], [54799447, 54799500], [54799653, 54799710], [54801432, 54801476], [54801615, 54801660], [54801893, 54802019], [54802539, 54802585], [54802676, 54802738], [54803015, 54803136], [54803268, 54803381], [54805617, 54805748], [54812764, 54813050]] [[54790076, 54790160], [54791148, 54791271], [54792380, 54792482], [54793428, 54793542], [54793647, 54793731], [54794629, 54794779], [54795156, 54795262], [54795368, 54795449], [54795559, 54795639], [54795784, 54795877], [54795963, 54796114], [54796766, 54796834], [54796970, 54797108], [54797408, 54797563], [54797694, 54797750], [54797928, 54798030], [54798213, 54798259], [54798486, 54798678], [54798949, 54799158], [54799447, 54799500], [54799653, 54799710], [54801432, 54801476], [54801615, 54801660], [54801893, 54802019], [54802539, 54802585], [54802676, 54802738], [54803015, 54803136], [54803268, 54803381], [54805617, 54805748], [54812764, 54812982]]
Promoter
Chrom Start End Description
chr12 54794757 54794770 CAGE_peak_13_at_ITGA5_5end
chr12 54798587 54798607 CAGE_peak_7_at_ITGA5_5end
chr12 54807164 54807220 CAGE_peak_4_at_ITGA5_5end
chr12 54812962 54812973 CAGE_peak_5_at_ITGA5_5end
chr12 54812992 54813035 CAGE_peak_1_at_ITGA5_5end
chr12 54813043 54813056 CAGE_peak_2_at_ITGA5_5end
chr12 54813229 54813273 CAGE_peak_3_at_ITGA5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I054857 54857489 54857698 0.23 [{'connected_gene': 'GPR84', 'score': 27.13}, {'connected_gene': 'TESPA1', 'score': 10.22}, {'connected_gene': 'ZNF385A', 'score': 6.76}, {'connected_gene': 'ITGA5', 'score': 2.92}, {'connected_gene': 'NCKAP1L', 'score': 2.62}, {'connected_gene': 'GC12P054861', 'score': 0.77}, {'connected_gene': 'MUCL1', 'score': 0.31}]
chr12 GH12I054424 54424226 54424422 0.71 [{'connected_gene': 'GPR84', 'score': 17.71}, {'connected_gene': 'ZNF385A', 'score': 15.43}, {'connected_gene': 'ITGA5', 'score': 3.69}, {'connected_gene': 'NCKAP1L', 'score': 2.24}, {'connected_gene': 'LINC01154', 'score': 0.77}, {'connected_gene': 'GC12P054401', 'score': 0.34}, {'connected_gene': 'ENSG00000258086', 'score': 0.19}, {'connected_gene': 'LOC102724050', 'score': 0.19}]
chr12 GH12I054392 54392664 54394706 1.48 [{'connected_gene': 'GPR84', 'score': 15.88}, {'connected_gene': 'GTSF1', 'score': 14.18}, {'connected_gene': 'ITGA5', 'score': 13.5}, {'connected_gene': 'ZNF385A', 'score': 12.01}, {'connected_gene': 'MIR148B', 'score': 10.98}, {'connected_gene': 'HNRNPA1', 'score': 10.87}, {'connected_gene': 'RNU6-950P', 'score': 10.74}, {'connected_gene': 'COPZ1', 'score': 10.71}, {'connected_gene': 'TARBP2', 'score': 10.39}, {'connected_gene': 'NCKAP1L', 'score': 4.72}, {'connected_gene': 'GC12P054401', 'score': 0.44}, {'connected_gene': 'ENSG00000258086', 'score': 0.28}, {'connected_gene': 'LOC102724050', 'score': 0.26}]
chr12 GH12I054406 54406222 54406721 0.51 [{'connected_gene': 'GPR84', 'score': 11.02}, {'connected_gene': 'GTSF1', 'score': 10.23}, {'connected_gene': 'GC12P054401', 'score': 0.44}, {'connected_gene': 'ITGA5', 'score': 0.39}, {'connected_gene': 'LOC102724050', 'score': 0.23}, {'connected_gene': 'ENSG00000258086', 'score': 0.23}]
chr12 GH12I054367 54367908 54372770 1.41 [{'connected_gene': 'MIR148B', 'score': 11.97}, {'connected_gene': 'MAP3K12', 'score': 11.62}, {'connected_gene': 'ENSG00000260470', 'score': 11.38}, {'connected_gene': 'CBX5', 'score': 11.21}, {'connected_gene': 'ITGA5', 'score': 10.95}, {'connected_gene': 'GPR84', 'score': 6.43}, {'connected_gene': 'FLJ12825', 'score': 5.64}, {'connected_gene': 'ZNF385A', 'score': 5.27}, {'connected_gene': 'HNRNPA1', 'score': 5.08}, {'connected_gene': 'ENSG00000258086', 'score': 0.37}, {'connected_gene': 'LOC102724050', 'score': 0.37}]
chr12 GH12I054373 54373145 54377699 1.16 [{'connected_gene': 'MIR148B', 'score': 12.02}, {'connected_gene': 'RNU6-950P', 'score': 11.13}, {'connected_gene': 'COPZ1', 'score': 11.1}, {'connected_gene': 'ITGA5', 'score': 10.96}, {'connected_gene': 'ZNF385A', 'score': 6.7}, {'connected_gene': 'HOXC12', 'score': 5.9}, {'connected_gene': 'HNRNPA1', 'score': 5.13}, {'connected_gene': 'GPR84', 'score': 0.39}, {'connected_gene': 'ENSG00000258086', 'score': 0.34}, {'connected_gene': 'LOC102724050', 'score': 0.34}]
chr12 GH12I054407 54407375 54424200 2.74 [{'connected_gene': 'ITGA5', 'score': 554.87}, {'connected_gene': 'GPR84', 'score': 42.5}, {'connected_gene': 'ZNF385A', 'score': 32.3}, {'connected_gene': 'GTSF1', 'score': 15.38}, {'connected_gene': 'PHC1P1', 'score': 14.39}, {'connected_gene': 'MAP3K12', 'score': 12.64}, {'connected_gene': 'ENSG00000260470', 'score': 11.37}, {'connected_gene': 'CALCOCO1', 'score': 9.88}, {'connected_gene': 'NCKAP1L', 'score': 4.05}, {'connected_gene': 'GC12P054401', 'score': 0.37}, {'connected_gene': 'ENSG00000258086', 'score': 0.21}, {'connected_gene': 'LOC102724050', 'score': 0.21}]
chr12 GH12I054381 54381502 54391979 2.42 [{'connected_gene': 'ZNF385A', 'score': 562.61}, {'connected_gene': 'GPR84', 'score': 15.89}, {'connected_gene': 'MAP3K12', 'score': 12.64}, {'connected_gene': 'MIR148B', 'score': 11.96}, {'connected_gene': 'ITGA5', 'score': 11.68}, {'connected_gene': 'RNU6-950P', 'score': 11.33}, {'connected_gene': 'COPZ1', 'score': 11.29}, {'connected_gene': 'GTSF1', 'score': 10.0}, {'connected_gene': 'FLJ12825', 'score': 5.18}, {'connected_gene': 'ENSG00000258086', 'score': 0.29}, {'connected_gene': 'LOC102724050', 'score': 0.29}]
chr12 GH12I054393 54392077 54392231 0.58 [{'connected_gene': 'ZNF385A', 'score': 560.95}, {'connected_gene': 'ITGA5', 'score': 11.7}, {'connected_gene': 'GPR84', 'score': 11.46}, {'connected_gene': 'MIR148B', 'score': 10.99}, {'connected_gene': 'RNU6-950P', 'score': 10.04}, {'connected_gene': 'COPZ1', 'score': 10.01}, {'connected_gene': 'GTSF1', 'score': 9.71}, {'connected_gene': 'GC12P054401', 'score': 0.44}, {'connected_gene': 'ENSG00000258086', 'score': 0.28}, {'connected_gene': 'LOC102724050', 'score': 0.28}]
chr12 GH12I054323 54323730 54332044 2.3 [{'connected_gene': 'COPZ1', 'score': 550.31}, {'connected_gene': 'ENSG00000258344', 'score': 22.07}, {'connected_gene': 'SP1', 'score': 21.24}, {'connected_gene': 'PCBP2', 'score': 20.04}, {'connected_gene': 'ATF7', 'score': 19.54}, {'connected_gene': 'HOXC8', 'score': 19.28}, {'connected_gene': 'HOXC9', 'score': 19.03}, {'connected_gene': 'HNRNPA1', 'score': 18.75}, {'connected_gene': 'ENSG00000258086', 'score': 13.8}, {'connected_gene': 'TARBP2', 'score': 13.59}, {'connected_gene': 'HOXC5', 'score': 12.57}, {'connected_gene': 'GPR84', 'score': 12.44}, {'connected_gene': 'HOXC6', 'score': 10.68}, {'connected_gene': 'HOXC4', 'score': 10.6}, {'connected_gene': 'ITGA5', 'score': 10.19}, {'connected_gene': 'NPFF', 'score': 10.06}, {'connected_gene': 'LOC100652999', 'score': 9.92}, {'connected_gene': 'GC12P054329', 'score': 0.77}, {'connected_gene': 'GC12M054318', 'score': 0.39}, {'connected_gene': 'RNU6-950P', 'score': 0.39}]
chr12 GH12I054354 54354713 54361290 1.9 [{'connected_gene': 'SP1', 'score': 52.63}, {'connected_gene': 'PCBP2', 'score': 45.37}, {'connected_gene': 'ENSG00000258344', 'score': 31.41}, {'connected_gene': 'CBX5', 'score': 30.99}, {'connected_gene': 'GPR84', 'score': 25.71}, {'connected_gene': 'ZNF385A', 'score': 25.18}, {'connected_gene': 'MAP3K12', 'score': 23.48}, {'connected_gene': 'ATF7', 'score': 22.11}, {'connected_gene': 'LOC100652999', 'score': 20.28}, {'connected_gene': 'HNRNPA1', 'score': 19.68}, {'connected_gene': 'ENSG00000258086', 'score': 14.26}, {'connected_gene': 'HOXC5', 'score': 12.57}, {'connected_gene': 'MIR148B', 'score': 12.43}, {'connected_gene': 'RNU6-950P', 'score': 11.94}, {'connected_gene': 'COPZ1', 'score': 11.9}, {'connected_gene': 'ITGA5', 'score': 11.63}, {'connected_gene': 'ENSG00000260470', 'score': 11.38}, {'connected_gene': 'HOXC8', 'score': 10.83}, {'connected_gene': 'HOXC4', 'score': 10.25}, {'connected_gene': 'HOXC9', 'score': 10.19}, {'connected_gene': 'GTSF1', 'score': 5.3}, {'connected_gene': 'NCKAP1L', 'score': 4.13}, {'connected_gene': 'LOC102724050', 'score': 0.77}]
chr12 GH12I054402 54402980 54405409 0.79 [{'connected_gene': 'GTSF1', 'score': 15.06}, {'connected_gene': 'GPR84', 'score': 11.03}, {'connected_gene': 'ZNF385A', 'score': 4.6}, {'connected_gene': 'GC12P054401', 'score': 0.77}, {'connected_gene': 'ITGA5', 'score': 0.37}, {'connected_gene': 'LOC102724050', 'score': 0.23}, {'connected_gene': 'ENSG00000258086', 'score': 0.23}]
chr12 GH12I054396 54396981 54398085 0.31 [{'connected_gene': 'GTSF1', 'score': 14.2}, {'connected_gene': 'ITGA5', 'score': 12.29}, {'connected_gene': 'GPR84', 'score': 11.31}, {'connected_gene': 'MIR148B', 'score': 10.9}, {'connected_gene': 'RNU6-950P', 'score': 10.74}, {'connected_gene': 'COPZ1', 'score': 10.71}, {'connected_gene': 'GC12P054401', 'score': 0.77}, {'connected_gene': 'ZNF385A', 'score': 0.44}, {'connected_gene': 'ENSG00000258086', 'score': 0.26}, {'connected_gene': 'LOC102724050', 'score': 0.26}]
chr12 GH12I054439 54439285 54440306 1.14 [{'connected_gene': 'GTSF1', 'score': 29.9}, {'connected_gene': 'ITGA5', 'score': 12.25}, {'connected_gene': 'ZNF385A', 'score': 11.85}, {'connected_gene': 'GPR84', 'score': 11.16}, {'connected_gene': 'NCKAP1L', 'score': 10.96}, {'connected_gene': 'RNU6-950P', 'score': 9.81}, {'connected_gene': 'COPZ1', 'score': 9.8}, {'connected_gene': 'LINC01154', 'score': 0.39}, {'connected_gene': 'GC12P054401', 'score': 0.28}, {'connected_gene': 'ENSG00000258086', 'score': 0.17}, {'connected_gene': 'LOC102724050', 'score': 0.17}]
chr12 GH12I054426 54426240 54426442 0.53 [{'connected_gene': 'LINC01154', 'score': 550.77}, {'connected_gene': 'ZNF385A', 'score': 10.59}, {'connected_gene': 'PPP1R1A', 'score': 1.3}, {'connected_gene': 'ITGA5', 'score': 0.44}, {'connected_gene': 'GC12P054401', 'score': 0.31}, {'connected_gene': 'LOC102724050', 'score': 0.19}, {'connected_gene': 'ENSG00000258086', 'score': 0.19}]
chr12 GH12I054140 54140452 54142890 0.86 [{'connected_gene': 'SMUG1-AS1', 'score': 550.77}, {'connected_gene': 'FLJ12825', 'score': 37.52}, {'connected_gene': 'SMUG1', 'score': 19.34}, {'connected_gene': 'HOXC5', 'score': 11.16}, {'connected_gene': 'MIR196A2', 'score': 11.15}, {'connected_gene': 'HOXC6', 'score': 11.14}, {'connected_gene': 'HOXC-AS3', 'score': 11.14}, {'connected_gene': 'HOXC10', 'score': 11.14}, {'connected_gene': 'MIR615', 'score': 11.06}, {'connected_gene': 'HOXC4', 'score': 11.04}, {'connected_gene': 'HOXC8', 'score': 10.8}, {'connected_gene': 'HOXC9', 'score': 10.79}, {'connected_gene': 'HOXC-AS2', 'score': 10.79}, {'connected_gene': 'HOXC-AS1', 'score': 10.79}, {'connected_gene': 'HOTAIR', 'score': 10.62}, {'connected_gene': 'HOXC11', 'score': 10.62}, {'connected_gene': 'ENSG00000260470', 'score': 10.39}, {'connected_gene': 'ITGA5', 'score': 4.83}, {'connected_gene': 'LINC02381', 'score': 0.37}, {'connected_gene': 'GC12M054122', 'score': 0.28}]
chr12 GH12I054987 54987579 54989859 1.3 [{'connected_gene': 'CDK2', 'score': 24.31}, {'connected_gene': 'MMP19', 'score': 21.56}, {'connected_gene': 'DNAJC14', 'score': 19.58}, {'connected_gene': 'ENSG00000258086', 'score': 13.52}, {'connected_gene': 'HOXC5', 'score': 12.54}, {'connected_gene': 'ENSG00000258344', 'score': 12.28}, {'connected_gene': 'LOC100131294', 'score': 11.07}, {'connected_gene': 'HOXC8', 'score': 10.81}, {'connected_gene': 'TMEM198B', 'score': 10.68}, {'connected_gene': 'HNRNPA1', 'score': 10.36}, {'connected_gene': 'NEUROD4', 'score': 10.3}, {'connected_gene': 'HOXC4', 'score': 10.23}, {'connected_gene': 'HOXC9', 'score': 10.16}, {'connected_gene': 'ITGA5', 'score': 10.06}, {'connected_gene': 'TESPA1', 'score': 6.41}, {'connected_gene': 'GC12M054982', 'score': 0.39}, {'connected_gene': 'GC12P054960', 'score': 0.31}]
chr12 GH12I054399 54399377 54399586 1.02 [{'connected_gene': 'GC12P054401', 'score': 550.77}, {'connected_gene': 'GPR84', 'score': 11.31}, {'connected_gene': 'MIR148B', 'score': 10.9}, {'connected_gene': 'RNU6-950P', 'score': 10.73}, {'connected_gene': 'COPZ1', 'score': 10.71}, {'connected_gene': 'GTSF1', 'score': 9.98}, {'connected_gene': 'ZNF385A', 'score': 0.44}, {'connected_gene': 'ITGA5', 'score': 0.37}, {'connected_gene': 'ENSG00000258086', 'score': 0.25}, {'connected_gene': 'LOC102724050', 'score': 0.25}]
chr12 GH12I054377 54377974 54380386 1.72 [{'connected_gene': 'ENSG00000258086', 'score': 13.8}, {'connected_gene': 'HOXC5', 'score': 12.57}, {'connected_gene': 'MIR148B', 'score': 12.0}, {'connected_gene': 'RNU6-950P', 'score': 11.12}, {'connected_gene': 'COPZ1', 'score': 11.09}, {'connected_gene': 'HOXC8', 'score': 10.83}, {'connected_gene': 'ITGA5', 'score': 10.3}, {'connected_gene': 'HOXC9', 'score': 10.18}, {'connected_gene': 'HOXC12', 'score': 6.02}, {'connected_gene': 'ZNF385A', 'score': 4.77}, {'connected_gene': 'GPR84', 'score': 0.39}, {'connected_gene': 'LOC102724050', 'score': 0.31}]
chr12 GH12I054400 54400899 54402294 0.38 [{'connected_gene': 'GC12P054401', 'score': 550.77}, {'connected_gene': 'GTSF1', 'score': 14.89}, {'connected_gene': 'GPR84', 'score': 11.03}, {'connected_gene': 'ITGA5', 'score': 0.37}, {'connected_gene': 'LOC102724050', 'score': 0.25}, {'connected_gene': 'ENSG00000258086', 'score': 0.25}]

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