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
ENST00000332427 [[12813994, 12815404], [12837284, 12837441], [12848392, 12848445], [12848998, 12849121]] [[12814134, 12815382]]
ENST00000540796 [[12815204, 12815404], [12837284, 12837441], [12848392, 12848445], [12848998, 12849141]] [[12815204, 12815382]]
ENST00000545876 [[12837028, 12837441], [12848392, 12848445], [12848998, 12849117]] None
ENST00000537507 [[12837331, 12837441], [12841446, 12841866], [12848392, 12848445], [12848998, 12849121]] None
ENST00000540510 [[12813824, 12815404], [12837284, 12837455]] [[12814134, 12815382]]
NM_006143 [[12813994, 12815404], [12837284, 12837441], [12848392, 12848445], [12848998, 12849121]] [[12814134, 12815382]]
Promoter
Chrom Start End Description
chr12 12837400 12837418 CAGE_peak_3_at_GPR19_5end
chr12 12837423 12837501 CAGE_peak_1_at_GPR19_5end
chr12 12849030 12849042 CAGE_peak_5_at_GPR19_5end
chr12 12849073 12849138 CAGE_peak_2_at_GPR19_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I012711 12711881 12713185 0.31 [{'connected_gene': 'APOLD1', 'score': 12.65}, {'connected_gene': 'GPR19', 'score': 0.77}, {'connected_gene': 'CDKN1B', 'score': 0.77}, {'connected_gene': 'GC12P012702', 'score': 0.44}]
chr12 GH12I012713 12713282 12727320 2.63 [{'connected_gene': 'APOLD1', 'score': 566.86}, {'connected_gene': 'CDKN1B', 'score': 556.44}, {'connected_gene': 'ENSG00000275560', 'score': 550.77}, {'connected_gene': 'DDX47', 'score': 35.03}, {'connected_gene': 'GPR19', 'score': 10.86}, {'connected_gene': 'RPL13AP20', 'score': 9.96}, {'connected_gene': 'MANSC1', 'score': 3.06}, {'connected_gene': 'BORCS5', 'score': 2.68}, {'connected_gene': 'DUSP16', 'score': 1.44}, {'connected_gene': 'LOC105369663', 'score': 0.77}, {'connected_gene': 'GC12P012719', 'score': 0.77}, {'connected_gene': 'PIR57575', 'score': 0.77}, {'connected_gene': 'GC12M012725', 'score': 0.44}]
chr12 GH12I012705 12705687 12706596 0.43 [{'connected_gene': 'APOLD1', 'score': 12.5}, {'connected_gene': 'GC12P012702', 'score': 0.77}, {'connected_gene': 'CDKN1B', 'score': 0.44}, {'connected_gene': 'GPR19', 'score': 0.39}]
chr12 GH12I012557 12557614 12564615 2.67 [{'connected_gene': 'DUSP16', 'score': 553.76}, {'connected_gene': 'CREBL2', 'score': 11.43}, {'connected_gene': 'GPR19', 'score': 10.5}, {'connected_gene': 'CDKN1B', 'score': 9.72}, {'connected_gene': 'ENSG00000255670', 'score': 4.89}, {'connected_gene': 'BCL2L14', 'score': 1.59}, {'connected_gene': 'GC12M012561', 'score': 0.25}, {'connected_gene': 'PIR41199', 'score': 0.19}]
chr12 GH12I012383 12383762 12385861 1.26 [{'connected_gene': 'MANSC1', 'score': 11.81}, {'connected_gene': 'DUSP16', 'score': 11.56}, {'connected_gene': 'ENSG00000240424', 'score': 11.55}, {'connected_gene': 'GPR19', 'score': 11.15}, {'connected_gene': 'CDKN1B', 'score': 10.98}, {'connected_gene': 'BORCS5', 'score': 5.0}, {'connected_gene': 'GC12M012376', 'score': 0.77}, {'connected_gene': 'GC12M012364', 'score': 0.39}, {'connected_gene': 'GC12P012364', 'score': 0.37}]
chr12 GH12I012376 12376601 12377001 1.16 [{'connected_gene': 'MANSC1', 'score': 11.42}, {'connected_gene': 'DUSP16', 'score': 11.39}, {'connected_gene': 'ENSG00000240424', 'score': 11.39}, {'connected_gene': 'CDKN1B', 'score': 11.12}, {'connected_gene': 'GPR19', 'score': 11.06}, {'connected_gene': 'APOLD1', 'score': 10.56}, {'connected_gene': 'LOC105369663', 'score': 10.56}, {'connected_gene': 'GC12M012376', 'score': 0.77}, {'connected_gene': 'GC12P012364', 'score': 0.39}, {'connected_gene': 'GC12M012364', 'score': 0.37}, {'connected_gene': 'BORCS5', 'score': 0.37}]
chr12 GH12I012372 12372933 12373982 0.54 [{'connected_gene': 'MANSC1', 'score': 11.36}, {'connected_gene': 'GPR19', 'score': 11.06}, {'connected_gene': 'DUSP16', 'score': 10.81}, {'connected_gene': 'ENSG00000240424', 'score': 10.8}, {'connected_gene': 'CDKN1B', 'score': 10.73}, {'connected_gene': 'APOLD1', 'score': 10.57}, {'connected_gene': 'LOC105369663', 'score': 10.57}, {'connected_gene': 'GC12M012376', 'score': 0.44}, {'connected_gene': 'GC12P012364', 'score': 0.44}, {'connected_gene': 'BORCS5', 'score': 0.37}, {'connected_gene': 'GC12M012364', 'score': 0.34}]
chr12 GH12I012396 12396903 12400841 1.4 [{'connected_gene': 'DDX47', 'score': 23.95}, {'connected_gene': 'HTR7P1', 'score': 11.23}, {'connected_gene': 'LRP6', 'score': 11.21}, {'connected_gene': 'CREBL2', 'score': 11.13}, {'connected_gene': 'GPR19', 'score': 11.03}, {'connected_gene': 'ENSG00000240424', 'score': 10.8}, {'connected_gene': 'DUSP16', 'score': 10.8}, {'connected_gene': 'LOC100506248', 'score': 10.44}, {'connected_gene': 'MANSC1', 'score': 10.42}, {'connected_gene': 'CDKN1B', 'score': 10.17}, {'connected_gene': 'BORCS5', 'score': 7.83}, {'connected_gene': 'GPRC5D-AS1', 'score': 4.3}, {'connected_gene': 'GC12M012364', 'score': 0.77}, {'connected_gene': 'GC12P012409', 'score': 0.39}]
chr12 GH12I012580 12580930 12588518 1.37 [{'connected_gene': 'DDX47', 'score': 89.98}, {'connected_gene': 'DUSP16', 'score': 12.79}, {'connected_gene': 'LRP6', 'score': 11.16}, {'connected_gene': 'GPR19', 'score': 10.39}, {'connected_gene': 'CDKN1B', 'score': 10.34}, {'connected_gene': 'RPL19P17', 'score': 0.37}, {'connected_gene': 'GC12M012561', 'score': 0.34}]
chr12 GH12I012598 12598845 12601679 0.94 [{'connected_gene': 'DDX47', 'score': 18.22}, {'connected_gene': 'ENSG00000240424', 'score': 11.73}, {'connected_gene': 'DUSP16', 'score': 11.71}, {'connected_gene': 'GPR19', 'score': 10.75}, {'connected_gene': 'CDKN1B', 'score': 10.24}, {'connected_gene': 'CREBL2', 'score': 5.84}, {'connected_gene': 'GC12M012561', 'score': 0.44}, {'connected_gene': 'RPL19P17', 'score': 0.29}]
chr12 GH12I012695 12695415 12698579 1.96 [{'connected_gene': 'GPR19', 'score': 560.36}, {'connected_gene': 'APOLD1', 'score': 17.82}, {'connected_gene': 'LOC105369663', 'score': 11.61}, {'connected_gene': 'ENSG00000240424', 'score': 10.38}, {'connected_gene': 'DUSP16', 'score': 10.37}, {'connected_gene': 'GC12P012687', 'score': 0.44}, {'connected_gene': 'GC12P012702', 'score': 0.44}]
chr12 GH12I012665 12665128 12665547 0.31 [{'connected_gene': 'GPR19', 'score': 11.7}, {'connected_gene': 'CREBL2', 'score': 11.6}, {'connected_gene': 'CDKN1B', 'score': 10.58}, {'connected_gene': 'ENSG00000257004', 'score': 0.77}, {'connected_gene': 'GC12P012657', 'score': 0.44}]
chr12 GH12I012439 12439026 12444930 1.61 [{'connected_gene': 'BORCS5', 'score': 19.32}, {'connected_gene': 'DUSP16', 'score': 18.19}, {'connected_gene': 'DDX47', 'score': 11.97}, {'connected_gene': 'ENSG00000240424', 'score': 10.74}, {'connected_gene': 'CDKN1B', 'score': 10.73}, {'connected_gene': 'CREBL2', 'score': 10.73}, {'connected_gene': 'APOLD1', 'score': 3.12}, {'connected_gene': 'BCL2L14', 'score': 1.92}, {'connected_gene': 'GPR19', 'score': 1.66}, {'connected_gene': 'GC12P012450', 'score': 0.44}, {'connected_gene': 'GC12P012411', 'score': 0.29}]
chr12 GH12I012733 12733121 12738010 1.49 [{'connected_gene': 'CDKN1B', 'score': 21.05}, {'connected_gene': 'APOLD1', 'score': 17.01}, {'connected_gene': 'DDX47', 'score': 10.18}, {'connected_gene': 'BORCS5', 'score': 8.63}, {'connected_gene': 'DUSP16', 'score': 2.11}, {'connected_gene': 'GPR19', 'score': 1.75}, {'connected_gene': 'GC12M012732', 'score': 0.77}, {'connected_gene': 'GC12M012733', 'score': 0.44}]
chr12 GH12I012392 12392454 12393161 1.08 [{'connected_gene': 'CDKN1B', 'score': 13.91}, {'connected_gene': 'GPR19', 'score': 11.03}, {'connected_gene': 'CREBL2', 'score': 10.66}, {'connected_gene': 'BORCS5', 'score': 3.5}, {'connected_gene': 'DUSP16', 'score': 1.9}, {'connected_gene': 'APOLD1', 'score': 1.34}, {'connected_gene': 'GC12M012364', 'score': 0.77}, {'connected_gene': 'GC12M012376', 'score': 0.39}]
chr12 GH12I012402 12402114 12407437 1.66 [{'connected_gene': 'CDKN1B', 'score': 14.04}, {'connected_gene': 'CREBL2', 'score': 11.13}, {'connected_gene': 'DUSP16', 'score': 11.03}, {'connected_gene': 'ENSG00000240424', 'score': 11.02}, {'connected_gene': 'GPR19', 'score': 10.92}, {'connected_gene': 'BORCS5', 'score': 5.56}, {'connected_gene': 'GPRC5D-AS1', 'score': 4.81}, {'connected_gene': 'GC12M012364', 'score': 0.44}, {'connected_gene': 'GC12P012409', 'score': 0.44}]
chr12 GH12I012701 12701107 12701906 0.38 [{'connected_gene': 'GC12P012702', 'score': 550.77}, {'connected_gene': 'APOLD1', 'score': 23.18}, {'connected_gene': 'LOC105369663', 'score': 12.27}, {'connected_gene': 'GC12P012687', 'score': 0.39}, {'connected_gene': 'GPR19', 'score': 0.37}]
chr12 GH12I012628 12628564 12628849 0.46 [{'connected_gene': 'ENSG00000240424', 'score': 11.29}, {'connected_gene': 'DUSP16', 'score': 11.27}, {'connected_gene': 'GPR19', 'score': 11.13}, {'connected_gene': 'GC12P012621', 'score': 0.44}, {'connected_gene': 'CREBL2', 'score': 0.37}, {'connected_gene': 'ENSG00000275963', 'score': 0.34}]
chr12 GH12I012604 12604212 12609214 1.26 [{'connected_gene': 'GC12M012561', 'score': 550.77}, {'connected_gene': 'ENSG00000240424', 'score': 11.59}, {'connected_gene': 'DUSP16', 'score': 11.58}, {'connected_gene': 'GPR19', 'score': 10.84}, {'connected_gene': 'CDKN1B', 'score': 10.01}, {'connected_gene': 'CREBL2', 'score': 6.38}, {'connected_gene': 'RPL19P17', 'score': 0.28}]
chr12 GH12I012591 12591963 12593275 0.6 [{'connected_gene': 'ENSG00000240424', 'score': 12.21}, {'connected_gene': 'DUSP16', 'score': 12.18}, {'connected_gene': 'GPR19', 'score': 10.12}, {'connected_gene': 'GC12M012561', 'score': 0.39}, {'connected_gene': 'RPL19P17', 'score': 0.34}]
chr12 GH12I012448 12448823 12451779 1.67 [{'connected_gene': 'GC12P012450', 'score': 550.77}, {'connected_gene': 'DUSP16', 'score': 16.68}, {'connected_gene': 'CREBL2', 'score': 10.76}, {'connected_gene': 'ENSG00000240424', 'score': 10.44}, {'connected_gene': 'GPR19', 'score': 9.81}, {'connected_gene': 'BORCS5', 'score': 9.39}, {'connected_gene': 'BCL2L14', 'score': 1.85}, {'connected_gene': 'ENSG00000271370', 'score': 0.77}]
chr12 GH12I012731 12731103 12732251 0.6 [{'connected_gene': 'GC12M012732', 'score': 550.77}, {'connected_gene': 'DDX47', 'score': 10.17}, {'connected_gene': 'APOLD1', 'score': 7.56}, {'connected_gene': 'GPR19', 'score': 6.67}, {'connected_gene': 'GC12M012725', 'score': 0.77}]
chr12 GH12I012706 12704047 12704196 0.85 [{'connected_gene': 'GC12P012702', 'score': 550.77}, {'connected_gene': 'DDX47', 'score': 11.82}, {'connected_gene': 'LOC100506248', 'score': 11.08}, {'connected_gene': 'GPR19', 'score': 0.39}, {'connected_gene': 'CDKN1B', 'score': 0.39}]
chr12 GH12I012546 12546507 12546656 1.12 [{'connected_gene': 'ENSG00000240424', 'score': 12.05}, {'connected_gene': 'GPR19', 'score': 10.57}, {'connected_gene': 'CREBL2', 'score': 10.37}, {'connected_gene': 'MANSC1', 'score': 10.33}, {'connected_gene': 'DUSP16', 'score': 0.37}, {'connected_gene': 'PIR41199', 'score': 0.22}]
chr12 GH12I012655 12655601 12656400 1.05 [{'connected_gene': 'GC12P012657', 'score': 550.77}, {'connected_gene': 'GPR19', 'score': 11.66}, {'connected_gene': 'CREBL2', 'score': 11.61}, {'connected_gene': 'CDKN1B', 'score': 11.38}, {'connected_gene': 'ENSG00000240424', 'score': 10.68}, {'connected_gene': 'DUSP16', 'score': 10.67}, {'connected_gene': 'MANSC1', 'score': 10.25}, {'connected_gene': 'ENSG00000275963', 'score': 0.44}]
chr12 GH12I012395 12395235 12396506 0.31 [{'connected_gene': 'GC12M012364', 'score': 550.77}, {'connected_gene': 'GPR19', 'score': 11.03}, {'connected_gene': 'CREBL2', 'score': 10.66}, {'connected_gene': 'CDKN1B', 'score': 10.17}, {'connected_gene': 'GC12M012376', 'score': 0.39}, {'connected_gene': 'BORCS5', 'score': 0.28}]
chr12 GH12I012683 12683987 12686148 1.7 [{'connected_gene': 'GC12P012687', 'score': 550.77}, {'connected_gene': 'GPR19', 'score': 550.29}, {'connected_gene': 'CDKN1B', 'score': 11.38}, {'connected_gene': 'ENSG00000240424', 'score': 11.29}, {'connected_gene': 'DUSP16', 'score': 11.29}, {'connected_gene': 'MANSC1', 'score': 10.12}, {'connected_gene': 'APOLD1', 'score': 5.52}, {'connected_gene': 'FAM234B', 'score': 4.28}, {'connected_gene': 'GSG1', 'score': 3.04}, {'connected_gene': 'ENSG00000257004', 'score': 0.37}]
chr12 GH12I012703 12703492 12703925 0.43 [{'connected_gene': 'GC12P012702', 'score': 550.77}, {'connected_gene': 'GPR19', 'score': 8.86}, {'connected_gene': 'CDKN1B', 'score': 0.39}]
chr12 GH12I012704 12704600 12705001 1.34 [{'connected_gene': 'GC12P012702', 'score': 550.77}, {'connected_gene': 'GPR19', 'score': 0.39}, {'connected_gene': 'CDKN1B', 'score': 0.39}]
chr12 GH12I012676 12676727 12676876 0.31 [{'connected_gene': 'ENSG00000257004', 'score': 0.44}, {'connected_gene': 'GC12P012687', 'score': 0.39}, {'connected_gene': 'GPR19', 'score': 0.26}]
chr12 GH12I012547 12547465 12548220 0.52 [{'connected_gene': 'ENSG00000240424', 'score': 12.05}, {'connected_gene': 'CREBL2', 'score': 10.63}, {'connected_gene': 'GPR19', 'score': 10.57}, {'connected_gene': 'MANSC1', 'score': 10.33}, {'connected_gene': 'DUSP16', 'score': 0.39}, {'connected_gene': 'PIR41199', 'score': 0.22}]