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
ENST00000229238 [[6601149, 6601633], [6602027, 6602138], [6602223, 6602764]] [[6601436, 6601633], [6602027, 6602138], [6602223, 6602302]]
ENST00000537701 [[6601268, 6601633], [6602027, 6602138], [6602882, 6603007]] None
ENST00000543164 [[6601312, 6601633], [6602027, 6602138], [6602624, 6603006]] None
ENST00000543703 [[6601316, 6601633], [6602882, 6603006]] [[6601436, 6601535]]
ENST00000538814 [[6601317, 6601633], [6602027, 6602212]] None
ENST00000543959 [[6601317, 6601633], [6602027, 6602138], [6602839, 6602884]] None
ENST00000540949 [[6601446, 6601633], [6602027, 6602138], [6602416, 6602461]] None
NM_016497 [[6601315, 6601633], [6602027, 6602138], [6602223, 6602471]] [[6601436, 6601633], [6602027, 6602138], [6602223, 6602302]]
Promoter
Chrom Start End Description
chr12 6602406 6602440 CAGE_peak_1_at_MRPL51_5end
chr12 6602463 6602470 CAGE_peak_3_at_MRPL51_5end
chr12 6602955 6603022 CAGE_peak_2_at_MRPL51_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I006476 6476015 6477324 0.2 [{'connected_gene': 'PKP2P1', 'score': 550.77}, {'connected_gene': 'TAPBPL', 'score': 55.46}, {'connected_gene': 'VAMP1', 'score': 33.13}, {'connected_gene': 'CD27-AS1', 'score': 11.78}, {'connected_gene': 'CD27', 'score': 11.16}, {'connected_gene': 'IFFO1', 'score': 11.0}, {'connected_gene': 'NOP2', 'score': 10.93}, {'connected_gene': 'CHD4', 'score': 10.89}, {'connected_gene': 'MRPL51', 'score': 7.44}, {'connected_gene': 'GC12P006475', 'score': 0.77}]
chr12 GH12I006468 6468707 6471782 2.07 [{'connected_gene': 'VAMP1', 'score': 567.42}, {'connected_gene': 'TAPBPL', 'score': 44.12}, {'connected_gene': 'ZNF384', 'score': 34.3}, {'connected_gene': 'NCAPD2', 'score': 32.21}, {'connected_gene': 'ENSG00000219410', 'score': 31.25}, {'connected_gene': 'ENSG00000247853', 'score': 31.07}, {'connected_gene': 'NOP2', 'score': 21.75}, {'connected_gene': 'ING4', 'score': 21.65}, {'connected_gene': 'CHD4', 'score': 21.19}, {'connected_gene': 'MRPL51', 'score': 17.55}, {'connected_gene': 'SPSB2', 'score': 12.08}, {'connected_gene': 'SCARNA10', 'score': 11.52}, {'connected_gene': 'ENSG00000255966', 'score': 11.14}, {'connected_gene': 'GAPDH', 'score': 11.14}, {'connected_gene': 'IFFO1', 'score': 10.83}, {'connected_gene': 'ENSG00000256967', 'score': 10.03}, {'connected_gene': 'LPAR5', 'score': 9.89}, {'connected_gene': 'ACRBP', 'score': 9.38}, {'connected_gene': 'CD27-AS1', 'score': 5.8}, {'connected_gene': 'ENSG00000276718', 'score': 0.77}]
chr12 GH12I006472 6472015 6472224 0.46 [{'connected_gene': 'VAMP1', 'score': 550.77}, {'connected_gene': 'GC12P006475', 'score': 550.77}, {'connected_gene': 'MRPL51', 'score': 44.58}, {'connected_gene': 'TAPBPL', 'score': 11.81}, {'connected_gene': 'CD27-AS1', 'score': 11.81}, {'connected_gene': 'NCAPD2', 'score': 11.58}, {'connected_gene': 'SCARNA10', 'score': 11.52}, {'connected_gene': 'ENSG00000255966', 'score': 11.49}, {'connected_gene': 'GAPDH', 'score': 11.49}, {'connected_gene': 'CD27', 'score': 11.17}, {'connected_gene': 'IFFO1', 'score': 10.99}, {'connected_gene': 'NOP2', 'score': 10.92}, {'connected_gene': 'CHD4', 'score': 10.89}, {'connected_gene': 'ENSG00000219410', 'score': 10.07}, {'connected_gene': 'ING4', 'score': 10.07}, {'connected_gene': 'LPAR5', 'score': 9.88}, {'connected_gene': 'ACRBP', 'score': 9.63}]
chr12 GH12I006630 6630596 6634710 1.93 [{'connected_gene': 'LPAR5', 'score': 567.21}, {'connected_gene': 'TAPBPL', 'score': 6.8}, {'connected_gene': 'MRPL51', 'score': 5.15}, {'connected_gene': 'LAG3', 'score': 2.14}, {'connected_gene': 'VAMP1', 'score': 2.09}, {'connected_gene': 'LOC105369631', 'score': 0.37}]
chr12 GH12I006506 6506959 6508325 0.99 [{'connected_gene': 'TAPBPL', 'score': 27.16}, {'connected_gene': 'GC12P006521', 'score': 0.77}, {'connected_gene': 'NCAPD2', 'score': 0.39}, {'connected_gene': 'MRPL51', 'score': 0.39}]
chr12 GH12I006449 6449872 6454242 2.12 [{'connected_gene': 'TAPBPL', 'score': 595.38}, {'connected_gene': 'CD27-AS1', 'score': 567.74}, {'connected_gene': 'MRPL51', 'score': 41.33}, {'connected_gene': 'PTPN6', 'score': 15.92}, {'connected_gene': 'VAMP1', 'score': 9.48}, {'connected_gene': 'CD27', 'score': 0.44}, {'connected_gene': 'ENSG00000276718', 'score': 0.39}]
chr12 GH12I006492 6492367 6495907 2.08 [{'connected_gene': 'MRPL51', 'score': 598.25}, {'connected_gene': 'NCAPD2', 'score': 562.71}, {'connected_gene': 'TAPBPL', 'score': 39.78}, {'connected_gene': 'ZNF384', 'score': 37.77}, {'connected_gene': 'NOP2', 'score': 36.0}, {'connected_gene': 'CHD4', 'score': 32.22}, {'connected_gene': 'ENSG00000247853', 'score': 29.0}, {'connected_gene': 'ENSG00000219410', 'score': 28.24}, {'connected_gene': 'SCARNA12', 'score': 13.88}, {'connected_gene': 'ENSG00000256967', 'score': 13.17}, {'connected_gene': 'LAG3', 'score': 12.13}, {'connected_gene': 'C1RL-AS1', 'score': 12.04}, {'connected_gene': 'VAMP1', 'score': 12.01}, {'connected_gene': 'ENSG00000255966', 'score': 11.98}, {'connected_gene': 'GAPDH', 'score': 11.98}, {'connected_gene': 'SPSB2', 'score': 11.81}, {'connected_gene': 'CD27-AS1', 'score': 11.56}, {'connected_gene': 'CD27', 'score': 11.3}, {'connected_gene': 'IFFO1', 'score': 11.14}, {'connected_gene': 'GC12P006521', 'score': 0.37}]
chr12 GH12I006529 6529266 6530170 0.54 [{'connected_gene': 'MRPL51', 'score': 38.24}, {'connected_gene': 'TAPBPL', 'score': 23.56}, {'connected_gene': 'NCAPD2', 'score': 12.51}, {'connected_gene': 'IFFO1', 'score': 11.39}, {'connected_gene': 'NOP2', 'score': 11.35}, {'connected_gene': 'CHD4', 'score': 11.26}, {'connected_gene': 'LPAR5', 'score': 9.8}, {'connected_gene': 'ACRBP', 'score': 9.53}, {'connected_gene': 'ENSG00000255966', 'score': 0.77}, {'connected_gene': 'PIR34682', 'score': 0.77}]
chr12 GH12I006722 6722881 6725224 2.12 [{'connected_gene': 'COPS7A', 'score': 558.02}, {'connected_gene': 'ENSG00000270068', 'score': 550.77}, {'connected_gene': 'ENSG00000219410', 'score': 35.01}, {'connected_gene': 'CHD4', 'score': 31.73}, {'connected_gene': 'ZNF384', 'score': 31.66}, {'connected_gene': 'NOP2', 'score': 25.83}, {'connected_gene': 'ATN1', 'score': 20.21}, {'connected_gene': 'ENSG00000247853', 'score': 18.02}, {'connected_gene': 'NCAPD2', 'score': 13.91}, {'connected_gene': 'GNB3', 'score': 12.82}, {'connected_gene': 'SPSB2', 'score': 11.74}, {'connected_gene': 'CD4', 'score': 11.69}, {'connected_gene': 'GPR162', 'score': 11.63}, {'connected_gene': 'P3H3', 'score': 11.63}, {'connected_gene': 'SCARNA12', 'score': 11.54}, {'connected_gene': 'ING4', 'score': 11.43}, {'connected_gene': 'ACRBP', 'score': 11.22}, {'connected_gene': 'LPAR5', 'score': 11.1}, {'connected_gene': 'LAG3', 'score': 10.92}, {'connected_gene': 'ENSG00000256967', 'score': 10.57}, {'connected_gene': 'IFFO1', 'score': 10.46}, {'connected_gene': 'MRPL51', 'score': 5.23}, {'connected_gene': 'ENSG00000269892', 'score': 0.37}]
chr12 GH12I006699 6699865 6701359 1.8 [{'connected_gene': 'PIANP', 'score': 550.77}, {'connected_gene': 'VAMP1', 'score': 5.1}, {'connected_gene': 'MRPL51', 'score': 4.94}, {'connected_gene': 'ZNF384', 'score': 0.39}]
chr12 GH12I006459 6459004 6465283 1.28 [{'connected_gene': 'ZNF384', 'score': 101.83}, {'connected_gene': 'ENSG00000219410', 'score': 89.06}, {'connected_gene': 'CHD4', 'score': 81.9}, {'connected_gene': 'ENSG00000247853', 'score': 68.25}, {'connected_gene': 'TAPBPL', 'score': 49.98}, {'connected_gene': 'MRPL51', 'score': 41.68}, {'connected_gene': 'NOP2', 'score': 38.06}, {'connected_gene': 'SCARNA12', 'score': 37.23}, {'connected_gene': 'VAMP1', 'score': 32.25}, {'connected_gene': 'P3H3', 'score': 26.86}, {'connected_gene': 'EMG1', 'score': 22.14}, {'connected_gene': 'ENSG00000256967', 'score': 21.53}, {'connected_gene': 'SPSB2', 'score': 20.15}, {'connected_gene': 'C12orf57', 'score': 19.14}, {'connected_gene': 'LRRC23', 'score': 19.05}, {'connected_gene': 'GNB3', 'score': 14.55}, {'connected_gene': 'NCAPD2', 'score': 13.23}, {'connected_gene': 'LAG3', 'score': 12.3}, {'connected_gene': 'C1RL-AS1', 'score': 11.91}, {'connected_gene': 'ENO2', 'score': 11.76}, {'connected_gene': 'RPL13P5', 'score': 10.71}, {'connected_gene': 'ENSG00000255966', 'score': 10.7}, {'connected_gene': 'GAPDH', 'score': 10.7}, {'connected_gene': 'ING4', 'score': 10.52}, {'connected_gene': 'DSTNP2', 'score': 10.5}, {'connected_gene': 'PHB2', 'score': 10.39}, {'connected_gene': 'PLEKHG6', 'score': 10.06}, {'connected_gene': 'C1S', 'score': 9.79}, {'connected_gene': 'ATN1', 'score': 9.74}, {'connected_gene': 'ENSG00000276718', 'score': 0.77}]
chr12 GH12I006530 6530686 6543505 2.34 [{'connected_gene': 'GAPDH', 'score': 558.44}, {'connected_gene': 'ENSG00000269968', 'score': 550.77}, {'connected_gene': 'ZNF384', 'score': 80.04}, {'connected_gene': 'ENSG00000219410', 'score': 72.75}, {'connected_gene': 'CHD4', 'score': 58.1}, {'connected_gene': 'ENSG00000247853', 'score': 54.62}, {'connected_gene': 'NCAPD2', 'score': 50.67}, {'connected_gene': 'NOP2', 'score': 45.16}, {'connected_gene': 'SPSB2', 'score': 42.49}, {'connected_gene': 'ENSG00000256967', 'score': 38.64}, {'connected_gene': 'SCARNA12', 'score': 32.85}, {'connected_gene': 'MRPL51', 'score': 28.77}, {'connected_gene': 'TAPBPL', 'score': 23.73}, {'connected_gene': 'ATN1', 'score': 22.98}, {'connected_gene': 'C1RL-AS1', 'score': 22.5}, {'connected_gene': 'VAMP1', 'score': 22.02}, {'connected_gene': 'LAG3', 'score': 21.09}, {'connected_gene': 'ING4', 'score': 15.24}, {'connected_gene': 'LOC100419928', 'score': 12.69}, {'connected_gene': 'SCARNA10', 'score': 12.55}, {'connected_gene': 'PHB2', 'score': 11.22}, {'connected_gene': 'CD27-AS1', 'score': 11.01}, {'connected_gene': 'P3H3', 'score': 10.98}, {'connected_gene': 'EMG1', 'score': 10.9}, {'connected_gene': 'GNB3', 'score': 10.42}, {'connected_gene': 'ENSG00000272173', 'score': 10.4}, {'connected_gene': 'ACRBP', 'score': 10.34}, {'connected_gene': 'PEX5', 'score': 10.28}, {'connected_gene': 'LPAR5', 'score': 10.2}, {'connected_gene': 'IFFO1', 'score': 10.12}, {'connected_gene': 'USP5', 'score': 9.69}, {'connected_gene': 'ENSG00000255966', 'score': 0.77}, {'connected_gene': 'ENSG00000245667', 'score': 0.44}]
chr12 GH12I006525 6525412 6527669 0.31 [{'connected_gene': 'PIR34682', 'score': 550.77}, {'connected_gene': 'TAPBPL', 'score': 25.43}, {'connected_gene': 'IFFO1', 'score': 11.47}, {'connected_gene': 'ENSG00000247853', 'score': 11.33}, {'connected_gene': 'SCARNA11', 'score': 11.32}, {'connected_gene': 'CHD4', 'score': 11.28}, {'connected_gene': 'NOP2', 'score': 11.06}, {'connected_gene': 'CD27', 'score': 10.63}, {'connected_gene': 'PLEKHG6', 'score': 9.52}, {'connected_gene': 'MRPL51', 'score': 7.55}, {'connected_gene': 'ENSG00000255966', 'score': 0.44}, {'connected_gene': 'NCAPD2', 'score': 0.29}]

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