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
ENST00000344337 [[122140795, 122146019], [122146384, 122146563], [122152507, 122152635], [122156016, 122156142], [122160884, 122160963], [122168420, 122168584], [122170380, 122170480], [122170822, 122170911], [122172716, 122172848], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215417], [122233603, 122233775]] [[122145831, 122146019], [122146384, 122146563], [122152507, 122152635], [122156016, 122156142], [122160884, 122160963], [122168420, 122168584], [122170380, 122170480], [122170822, 122170911], [122172716, 122172848], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215412]]
ENST00000470904 [[122144526, 122146019], [122146384, 122146563], [122152507, 122152635], [122156016, 122156142], [122160884, 122160963], [122168420, 122168584], [122170380, 122170480], [122170822, 122170911], [122172716, 122172848], [122176572, 122176695], [122178285, 122178732]] None
ENST00000466923 [[122144950, 122146019], [122146384, 122146563], [122152507, 122152635], [122156016, 122156142], [122160884, 122160963], [122168420, 122168584], [122170380, 122170480], [122170822, 122170911], [122172716, 122172848], [122176572, 122176695], [122178285, 122178528], [122178620, 122179504]] None
ENST00000485027 [[122145800, 122146019], [122146384, 122146563], [122152507, 122152635], [122156016, 122156142], [122160884, 122160963], [122168420, 122168584], [122170380, 122170480], [122170822, 122170911], [122172716, 122172848], [122176572, 122176695], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215484]] [[122176578, 122176695], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215412]]
ENST00000494339 [[122145831, 122146019], [122146384, 122146563], [122152507, 122152635], [122156016, 122156142], [122160884, 122160963], [122168420, 122168584], [122170380, 122170480], [122170822, 122170911], [122172716, 122172848], [122176572, 122176695], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215417], [122233603, 122233781]] [[122176578, 122176695], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215412]]
ENST00000465882 [[122160894, 122160963], [122168420, 122168584], [122170380, 122170480], [122170822, 122170911], [122172716, 122172848], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215417], [122233721, 122233792]] [[122160894, 122160963], [122168420, 122168584], [122170380, 122170480], [122170822, 122170911], [122172716, 122172848], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215412]]
ENST00000464940 [[122170431, 122170480], [122170822, 122170911], [122172716, 122172848], [122180070, 122180165], [122182788, 122182888], [122182989, 122183106]] None
ENST00000482287 [[122170831, 122170911], [122172716, 122172848], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215417], [122233311, 122233389]] [[122170831, 122170911], [122172716, 122172848], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215412]]
ENST00000476916 [[122170836, 122170911], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215417], [122233721, 122233784]] [[122170836, 122170911], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215412]]
ENST00000493510 [[122172756, 122172848], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215417], [122233686, 122233753]] [[122172756, 122172848], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215412]]
NR_026698 [[122140747, 122146019], [122146384, 122146563], [122152507, 122152635], [122156016, 122156142], [122160884, 122160963], [122168420, 122168584], [122170380, 122170480], [122170822, 122170911], [122172716, 122172848], [122176572, 122176695], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215417], [122233603, 122233786]] None
NM_002264 [[122140747, 122146019], [122146384, 122146563], [122152507, 122152635], [122156016, 122156142], [122160884, 122160963], [122168420, 122168584], [122170380, 122170480], [122170822, 122170911], [122172716, 122172848], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215417], [122233603, 122233786]] [[122145831, 122146019], [122146384, 122146563], [122152507, 122152635], [122156016, 122156142], [122160884, 122160963], [122168420, 122168584], [122170380, 122170480], [122170822, 122170911], [122172716, 122172848], [122180070, 122180165], [122182788, 122182888], [122186168, 122186276], [122215283, 122215412]]
Promoter
Chrom Start End Description
chr3 122215425 122215488 CAGE_peak_2_at_KPNA1_5end
chr3 122233723 122233797 CAGE_peak_1_at_KPNA1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I122797 122797371 122797589 0.45 [{'connected_gene': 'DIRC2', 'score': 11.83}, {'connected_gene': 'HSPBAP1', 'score': 10.39}, {'connected_gene': 'PARP14', 'score': 6.47}, {'connected_gene': 'PARP9', 'score': 5.4}, {'connected_gene': 'DTX3L', 'score': 5.33}, {'connected_gene': 'CSTA', 'score': 3.05}, {'connected_gene': 'KPNA1', 'score': 1.5}, {'connected_gene': 'GC03P122849', 'score': 0.23}]
chr3 GH03I122766 122766442 122770200 1.02 [{'connected_gene': 'DIRC2', 'score': 50.68}, {'connected_gene': 'HSPBAP1', 'score': 42.84}, {'connected_gene': 'PARP14', 'score': 31.06}, {'connected_gene': 'PARP9', 'score': 10.84}, {'connected_gene': 'DTX3L', 'score': 10.42}, {'connected_gene': 'LINC02035', 'score': 9.09}, {'connected_gene': 'CSTA', 'score': 3.95}, {'connected_gene': 'KPNA1', 'score': 3.36}]
chr3 GH03I122232 122232394 122234400 1.23 [{'connected_gene': 'CASR', 'score': 11.19}, {'connected_gene': 'IQCB1', 'score': 4.58}, {'connected_gene': 'CD86', 'score': 4.01}, {'connected_gene': 'PARP14', 'score': 2.92}, {'connected_gene': 'PARP9', 'score': 2.4}, {'connected_gene': 'DTX3L', 'score': 1.97}, {'connected_gene': 'KPNA1', 'score': 1.85}, {'connected_gene': 'GOLGB1', 'score': 1.81}, {'connected_gene': 'CSTA', 'score': 1.65}, {'connected_gene': 'HNRNPA1P23', 'score': 0.18}]
chr3 GH03I122245 122245528 122248308 1.08 [{'connected_gene': 'CASR', 'score': 10.77}, {'connected_gene': 'PARP14', 'score': 6.64}, {'connected_gene': 'PARP9', 'score': 5.19}, {'connected_gene': 'IQCB1', 'score': 4.61}, {'connected_gene': 'HSPBAP1', 'score': 4.52}, {'connected_gene': 'CD86', 'score': 4.16}, {'connected_gene': 'DTX3L', 'score': 3.63}, {'connected_gene': 'KPNA1', 'score': 3.14}, {'connected_gene': 'CSTA', 'score': 2.94}, {'connected_gene': 'GOLGB1', 'score': 1.44}, {'connected_gene': 'EAF2', 'score': 1.11}, {'connected_gene': 'HNRNPA1P23', 'score': 0.19}]
chr3 GH03I122562 122562968 122565971 2.2 [{'connected_gene': 'PARP9', 'score': 550.77}, {'connected_gene': 'DTX3L', 'score': 550.77}, {'connected_gene': 'LOC102723582', 'score': 14.08}, {'connected_gene': 'PARP14', 'score': 12.11}, {'connected_gene': 'WDR5B', 'score': 11.32}, {'connected_gene': 'KPNA1', 'score': 11.17}]
chr3 GH03I122770 122770401 122770912 0.68 [{'connected_gene': 'PARP14', 'score': 22.63}, {'connected_gene': 'DIRC2', 'score': 16.31}, {'connected_gene': 'HSPBAP1', 'score': 15.29}, {'connected_gene': 'PARP9', 'score': 6.36}, {'connected_gene': 'DTX3L', 'score': 6.22}, {'connected_gene': 'CSTA', 'score': 3.36}, {'connected_gene': 'KPNA1', 'score': 1.51}]
chr3 GH03I122773 122773247 122775034 1.36 [{'connected_gene': 'PARP14', 'score': 18.67}, {'connected_gene': 'HSPBAP1', 'score': 13.22}, {'connected_gene': 'DTX3L', 'score': 11.67}, {'connected_gene': 'PARP9', 'score': 10.13}, {'connected_gene': 'DIRC2', 'score': 9.87}, {'connected_gene': 'CSTA', 'score': 3.04}, {'connected_gene': 'KPNA1', 'score': 1.87}]
chr3 GH03I122678 122678325 122684270 2.66 [{'connected_gene': 'PARP14', 'score': 574.37}, {'connected_gene': 'DTX3L', 'score': 18.81}, {'connected_gene': 'PARP9', 'score': 14.59}, {'connected_gene': 'HSPBAP1', 'score': 9.8}, {'connected_gene': 'DIRC2', 'score': 8.06}, {'connected_gene': 'LINC02035', 'score': 5.29}, {'connected_gene': 'CSTA', 'score': 3.1}, {'connected_gene': 'KPNA1', 'score': 1.46}]
chr3 GH03I122508 122508401 122508600 0.2 [{'connected_gene': 'WDR5B', 'score': 22.67}, {'connected_gene': 'KPNA1', 'score': 0.44}, {'connected_gene': 'GC03P122484', 'score': 0.34}]
chr3 GH03I122511 122511001 122511400 0.73 [{'connected_gene': 'WDR5B', 'score': 7.47}, {'connected_gene': 'KPNA1', 'score': 0.77}, {'connected_gene': 'GC03P122484', 'score': 0.31}]
chr3 GH03I122495 122495867 122498523 0.97 [{'connected_gene': 'WDR5B', 'score': 12.89}, {'connected_gene': 'DTX3L', 'score': 4.25}, {'connected_gene': 'GC03P122484', 'score': 0.39}, {'connected_gene': 'KPNA1', 'score': 0.37}]
chr3 GH03I122442 122442885 122444803 0.67 [{'connected_gene': 'WDR5B', 'score': 23.26}, {'connected_gene': 'LOC102723582', 'score': 15.34}, {'connected_gene': 'ENSG00000242531', 'score': 0.31}, {'connected_gene': 'ENSG00000275348', 'score': 0.28}, {'connected_gene': 'KPNA1', 'score': 0.19}]
chr3 GH03I122468 122468837 122469727 0.57 [{'connected_gene': 'KPNA1', 'score': 11.64}, {'connected_gene': 'PARP14', 'score': 11.26}, {'connected_gene': 'ENSG00000275348', 'score': 0.39}, {'connected_gene': 'ENSG00000242531', 'score': 0.23}]
chr3 GH03I122432 122432249 122432307 0.22 [{'connected_gene': 'KPNA1', 'score': 1.81}, {'connected_gene': 'ENSG00000242531', 'score': 0.37}, {'connected_gene': 'LOC102723582', 'score': 0.37}, {'connected_gene': 'ENSG00000275348', 'score': 0.23}]
chr3 GH03I122512 122511634 122511693 0.68 [{'connected_gene': 'KPNA1', 'score': 550.77}, {'connected_gene': 'LOC102723582', 'score': 17.19}, {'connected_gene': 'GC03P122484', 'score': 0.31}]
chr3 GH03I122502 122502801 122503000 0.2 [{'connected_gene': 'KPNA1', 'score': 0.39}, {'connected_gene': 'GC03P122484', 'score': 0.37}]
chr3 GH03I122509 122509094 122509243 0.59 [{'connected_gene': 'KPNA1', 'score': 0.44}, {'connected_gene': 'GC03P122484', 'score': 0.34}]
chr3 GH03I122493 122493434 122493583 0.2 [{'connected_gene': 'KPNA1', 'score': 12.44}, {'connected_gene': 'GC03P122484', 'score': 0.44}]
chr3 GH03I122313 122313907 122315436 0.88 [{'connected_gene': 'CSTA', 'score': 13.43}, {'connected_gene': 'WDR5B', 'score': 12.2}, {'connected_gene': 'CCDC58', 'score': 10.74}, {'connected_gene': 'FAM162A', 'score': 10.74}, {'connected_gene': 'PARP14', 'score': 9.79}, {'connected_gene': 'PARP9', 'score': 4.02}, {'connected_gene': 'DTX3L', 'score': 4.0}, {'connected_gene': 'DIRC2', 'score': 2.41}, {'connected_gene': 'CD86', 'score': 1.85}, {'connected_gene': 'KPNA1', 'score': 1.46}, {'connected_gene': 'HSPBAP1', 'score': 1.36}, {'connected_gene': 'HNRNPA1P23', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.12}]
chr3 GH03I122314 122313429 122313581 0.42 [{'connected_gene': 'CSTA', 'score': 13.04}, {'connected_gene': 'CCDC58', 'score': 10.74}, {'connected_gene': 'FAM162A', 'score': 10.73}, {'connected_gene': 'PARP14', 'score': 8.53}, {'connected_gene': 'PARP9', 'score': 3.36}, {'connected_gene': 'DTX3L', 'score': 3.23}, {'connected_gene': 'DIRC2', 'score': 1.27}, {'connected_gene': 'KPNA1', 'score': 1.19}, {'connected_gene': 'HNRNPA1P23', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.13}]
chr3 GH03I122513 122513279 122515543 2.03 [{'connected_gene': 'LOC105374071', 'score': 550.77}, {'connected_gene': 'KPNA1', 'score': 550.77}, {'connected_gene': 'WDR5B', 'score': 22.93}, {'connected_gene': 'LOC102723582', 'score': 15.5}, {'connected_gene': 'ENSG00000273454', 'score': 15.09}, {'connected_gene': 'PARP14', 'score': 11.61}, {'connected_gene': 'GC03P122484', 'score': 0.31}]
chr3 GH03I122470 122470201 122470400 0.31 [{'connected_gene': 'LOC102723582', 'score': 13.41}, {'connected_gene': 'WDR5B', 'score': 11.8}, {'connected_gene': 'KPNA1', 'score': 11.66}, {'connected_gene': 'PARP14', 'score': 11.26}, {'connected_gene': 'ENSG00000275348', 'score': 0.39}, {'connected_gene': 'ENSG00000242531', 'score': 0.23}]
chr3 GH03I122485 122485001 122485201 0.69 [{'connected_gene': 'GC03P122484', 'score': 550.77}, {'connected_gene': 'WDR5B', 'score': 15.47}, {'connected_gene': 'KPNA1', 'score': 12.3}, {'connected_gene': 'GOLGB1', 'score': 11.44}, {'connected_gene': 'IQCB1', 'score': 11.12}, {'connected_gene': 'FAM162A', 'score': 10.27}, {'connected_gene': 'CCDC58', 'score': 10.27}]
chr3 GH03I122482 122482423 122483912 1.02 [{'connected_gene': 'ENSG00000275348', 'score': 550.77}, {'connected_gene': 'GC03P122484', 'score': 550.77}, {'connected_gene': 'WDR5B', 'score': 22.71}, {'connected_gene': 'LOC102723582', 'score': 17.09}, {'connected_gene': 'KPNA1', 'score': 12.39}, {'connected_gene': 'FAM162A', 'score': 10.28}, {'connected_gene': 'CCDC58', 'score': 10.28}]
chr3 GH03I122433 122432817 122433117 0.22 [{'connected_gene': 'ENSG00000242531', 'score': 0.37}, {'connected_gene': 'LOC102723582', 'score': 0.37}, {'connected_gene': 'ENSG00000275348', 'score': 0.23}, {'connected_gene': 'KPNA1', 'score': 0.18}]

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