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
ENST00000306467 [[122680578, 122682447], [122685637, 122685783], [122700189, 122700288], [122708343, 122708466], [122713067, 122713229], [122714029, 122714122], [122717804, 122717894], [122718430, 122718583], [122718679, 122718776], [122720644, 122720827], [122722211, 122722361], [122724125, 122724300], [122725617, 122725834], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122758643, 122758997]] [[122682212, 122682447], [122685637, 122685783], [122700189, 122700288], [122708343, 122708466], [122713067, 122713229], [122714029, 122714122], [122717804, 122717894], [122718430, 122718583], [122718679, 122718776], [122720644, 122720827], [122722211, 122722361], [122724125, 122724300], [122725617, 122725834], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122758643, 122758692]]
ENST00000328236 [[122680579, 122682447], [122685637, 122685783], [122700189, 122700288], [122708343, 122708466], [122713067, 122713229], [122714029, 122714122], [122717804, 122717894], [122718430, 122718583], [122718679, 122718776], [122720644, 122720827], [122722211, 122722361], [122724125, 122724300], [122725617, 122725834], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122758643, 122758724], [122759202, 122759286]] [[122682212, 122682447], [122685637, 122685783], [122700189, 122700288], [122708343, 122708466], [122713067, 122713229], [122714029, 122714122], [122717804, 122717894], [122718430, 122718583], [122718679, 122718776], [122720644, 122720827], [122722211, 122722361], [122724125, 122724300], [122725617, 122725834], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122758643, 122758692]]
ENST00000306481 [[122680579, 122682447], [122685637, 122685783], [122700189, 122700288], [122708343, 122708466], [122713067, 122713229], [122714029, 122714122], [122717804, 122717894], [122718430, 122718583], [122718679, 122718776], [122720644, 122720827], [122722211, 122722361], [122724125, 122724300], [122725617, 122725834], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122759202, 122759286]] [[122682212, 122682447], [122685637, 122685783], [122700189, 122700288], [122708343, 122708466], [122713067, 122713229], [122714029, 122714122], [122717804, 122717894], [122718430, 122718583], [122718679, 122718776], [122720644, 122720827], [122722211, 122722361], [122724125, 122724300], [122725617, 122725834], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754180]]
ENST00000508138 [[122680696, 122682447], [122685637, 122685783], [122700189, 122700288], [122708343, 122708466], [122713067, 122713229], [122714029, 122714122], [122717804, 122717894], [122718430, 122718583], [122718679, 122718776], [122720644, 122720827], [122722211, 122722361], [122724125, 122724300], [122725617, 122725834], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122738910, 122739038], [122739387, 122739434], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122758643, 122758724], [122759202, 122759238]] [[122738945, 122739038], [122739387, 122739434], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122758643, 122758692]]
ENST00000513565 [[122682093, 122682447], [122685637, 122685783], [122693945, 122694139], [122700189, 122700288], [122708343, 122708466], [122713067, 122713229], [122714029, 122714122], [122717804, 122717894], [122718430, 122718583], [122718679, 122718776], [122720644, 122720827], [122722211, 122722361], [122723997, 122724300], [122725617, 122726059], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122758643, 122759038]] [[122725954, 122726059], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122758643, 122758692]]
ENST00000508442 [[122685753, 122685783], [122700189, 122700288], [122708343, 122708466], [122713067, 122713229], [122714029, 122714122], [122717804, 122717894], [122718430, 122718583], [122718679, 122718776], [122720644, 122720827], [122722211, 122722361], [122724125, 122724300], [122725617, 122725834], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122759202, 122759286]] [[122685753, 122685783], [122700189, 122700288], [122708343, 122708466], [122713067, 122713229], [122714029, 122714122], [122717804, 122717894], [122718430, 122718583], [122718679, 122718776], [122720644, 122720827], [122722211, 122722361], [122724125, 122724300], [122725617, 122725834], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754180]]
ENST00000395431 [[122725954, 122726059], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122758643, 122758724], [122759202, 122759286]] [[122725954, 122726059], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122758643, 122758692]]
ENST00000503049 [[122726602, 122727031], [122728993, 122729143]] None
ENST00000510582 [[122734945, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122758643, 122758724], [122759202, 122759252]] [[122734945, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122758643, 122758692]]
ENST00000515110 [[122754087, 122754209], [122758160, 122758269], [122758643, 122759018]] [[122754154, 122754209], [122758160, 122758269], [122758643, 122758692]]
NM_153223 [[122680578, 122682447], [122685637, 122685783], [122700189, 122700288], [122708343, 122708466], [122713067, 122713229], [122714029, 122714122], [122717804, 122717894], [122718430, 122718583], [122718679, 122718776], [122720644, 122720827], [122722211, 122722361], [122724125, 122724300], [122725617, 122725834], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122758643, 122758724], [122759202, 122759286]] [[122682212, 122682447], [122685637, 122685783], [122700189, 122700288], [122708343, 122708466], [122713067, 122713229], [122714029, 122714122], [122717804, 122717894], [122718430, 122718583], [122718679, 122718776], [122720644, 122720827], [122722211, 122722361], [122724125, 122724300], [122725617, 122725834], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122758643, 122758692]]
NM_001166226 [[122680578, 122682447], [122685637, 122685783], [122700189, 122700288], [122708343, 122708466], [122713067, 122713229], [122714029, 122714122], [122717804, 122717894], [122718430, 122718583], [122718679, 122718776], [122720644, 122720827], [122722211, 122722361], [122724125, 122724300], [122725617, 122725834], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754209], [122759202, 122759286]] [[122682212, 122682447], [122685637, 122685783], [122700189, 122700288], [122708343, 122708466], [122713067, 122713229], [122714029, 122714122], [122717804, 122717894], [122718430, 122718583], [122718679, 122718776], [122720644, 122720827], [122722211, 122722361], [122724125, 122724300], [122725617, 122725834], [122726803, 122727031], [122728993, 122729191], [122734829, 122734978], [122748092, 122748234], [122751703, 122751818], [122754052, 122754180]]
Promoter
Chrom Start End Description
chr5 122758863 122758874 CAGE_peak_8_at_CEP120_5end
chr5 122758885 122758934 CAGE_peak_4_at_CEP120_5end
chr5 122758938 122758959 CAGE_peak_5_at_CEP120_5end
chr5 122758965 122758980 CAGE_peak_3_at_CEP120_5end
chr5 122758994 122759027 CAGE_peak_2_at_CEP120_5end
chr5 122759032 122759115 CAGE_peak_1_at_CEP120_5end
chr5 122759520 122759541 CAGE_peak_7_at_CEP120_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I122773 122773746 122777756 2.23 [{'connected_gene': 'SNX2', 'score': 585.32}, {'connected_gene': 'CEP120', 'score': 31.21}, {'connected_gene': 'CSNK1G3', 'score': 22.92}, {'connected_gene': 'SRFBP1', 'score': 21.05}, {'connected_gene': 'KRT8P33', 'score': 12.87}, {'connected_gene': 'LOX', 'score': 11.13}, {'connected_gene': 'ENSG00000260686', 'score': 10.75}, {'connected_gene': 'PRDM6', 'score': 9.17}, {'connected_gene': 'PPIC', 'score': 8.02}, {'connected_gene': 'RN7SL689P', 'score': 4.61}]
chr5 GH05I122848 122848645 122850992 0.92 [{'connected_gene': 'SNX2', 'score': 24.4}, {'connected_gene': 'KRT8P33', 'score': 12.39}, {'connected_gene': 'CEP120', 'score': 10.0}, {'connected_gene': 'PPIC', 'score': 8.15}, {'connected_gene': 'ENSG00000260686', 'score': 7.14}, {'connected_gene': 'SNX24', 'score': 6.48}, {'connected_gene': 'GC05M122843', 'score': 0.77}, {'connected_gene': 'GC05P122965', 'score': 0.13}]
chr5 GH05I123035 123035366 123037910 1.96 [{'connected_gene': 'PPIC', 'score': 567.06}, {'connected_gene': 'PRDM6', 'score': 561.8}, {'connected_gene': 'ENSG00000249996', 'score': 550.77}, {'connected_gene': 'SNX2', 'score': 14.34}, {'connected_gene': 'KRT8P33', 'score': 12.41}, {'connected_gene': 'CEP120', 'score': 10.02}, {'connected_gene': 'ENSG00000260686', 'score': 8.35}]
chr5 GH05I122843 122843710 122848491 2.03 [{'connected_gene': 'SNX24', 'score': 563.01}, {'connected_gene': 'GC05M122843', 'score': 550.77}, {'connected_gene': 'LOC105379154', 'score': 550.77}, {'connected_gene': 'SNX2', 'score': 37.02}, {'connected_gene': 'KRT8P33', 'score': 21.74}, {'connected_gene': 'PPIC', 'score': 16.37}, {'connected_gene': 'CEP120', 'score': 10.0}, {'connected_gene': 'ENSG00000260686', 'score': 9.92}, {'connected_gene': 'PRDM6', 'score': 9.19}, {'connected_gene': 'RN7SL689P', 'score': 7.21}, {'connected_gene': 'GC05P122965', 'score': 0.13}]
chr5 GH05I123421 123421186 123424826 2.1 [{'connected_gene': 'CEP120', 'score': 575.26}, {'connected_gene': 'SNX2', 'score': 35.86}, {'connected_gene': 'KRT8P33', 'score': 25.21}, {'connected_gene': 'CSNK1G3', 'score': 11.37}, {'connected_gene': 'PRDM6', 'score': 7.01}, {'connected_gene': 'PPIC', 'score': 5.16}]
chr5 GH05I123716 123716154 123717646 0.56 [{'connected_gene': 'CEP120', 'score': 4.44}, {'connected_gene': 'GC05P123744', 'score': 0.31}, {'connected_gene': 'KRT18P16', 'score': 0.18}]
chr5 GH05I123696 123696350 123697882 0.6 [{'connected_gene': 'CEP120', 'score': 4.42}, {'connected_gene': 'GC05P123744', 'score': 0.25}, {'connected_gene': 'KRT18P16', 'score': 0.21}]
chr5 GH05I122696 122696553 122697569 1.25 [{'connected_gene': 'CEP120', 'score': 99.76}, {'connected_gene': 'CSNK1G3', 'score': 58.15}, {'connected_gene': 'SNX2', 'score': 53.91}, {'connected_gene': 'ENSG00000260686', 'score': 41.7}, {'connected_gene': 'ZNF474', 'score': 39.63}, {'connected_gene': 'KRT8P33', 'score': 30.47}, {'connected_gene': 'SRFBP1', 'score': 21.97}, {'connected_gene': 'LOX', 'score': 21.21}, {'connected_gene': 'SNCAIP', 'score': 13.6}, {'connected_gene': 'RN7SL689P', 'score': 9.81}, {'connected_gene': 'PRDM6', 'score': 7.43}, {'connected_gene': 'ARGFXP1', 'score': 0.34}, {'connected_gene': 'GC05M122721', 'score': 0.31}, {'connected_gene': 'LINC02201', 'score': 0.29}]
chr5 GH05I124308 124308399 124310163 0.65 [{'connected_gene': 'CEP120', 'score': 10.79}, {'connected_gene': 'GC05P124377', 'score': 0.2}, {'connected_gene': 'GC05P124234', 'score': 0.19}, {'connected_gene': 'LINC01170', 'score': 0.13}]
chr5 GH05I123438 123438987 123439136 0.54 [{'connected_gene': 'CEP120', 'score': 0.37}, {'connected_gene': 'HMGB3P17', 'score': 0.29}]
chr5 GH05I123439 123439305 123439371 0.46 [{'connected_gene': 'CEP120', 'score': 0.37}, {'connected_gene': 'HMGB3P17', 'score': 0.29}]
chr5 GH05I123425 123425401 123425601 0.31 [{'connected_gene': 'CEP120', 'score': 550.77}, {'connected_gene': 'HMGB3P17', 'score': 0.26}]
chr5 GH05I123285 123285401 123285999 0.43 [{'connected_gene': 'CEP120', 'score': 4.4}, {'connected_gene': 'GC05P123236', 'score': 0.25}, {'connected_gene': 'KRT8P33', 'score': 0.13}]
chr5 GH05I122429 122429503 122430735 0.62 [{'connected_gene': 'MGC32805', 'score': 19.95}, {'connected_gene': 'CEP120', 'score': 11.84}, {'connected_gene': 'GC05P122385', 'score': 0.26}, {'connected_gene': 'SNCAIP', 'score': 0.13}]
chr5 GH05I123510 123510774 123513655 2.08 [{'connected_gene': 'CSNK1G3', 'score': 568.95}, {'connected_gene': 'GC05M123510', 'score': 550.77}, {'connected_gene': 'SNX2', 'score': 15.48}, {'connected_gene': 'CEP120', 'score': 14.05}, {'connected_gene': 'PRDM6', 'score': 6.57}, {'connected_gene': 'KRT18P16', 'score': 0.13}]
chr5 GH05I122758 122758709 122761275 0.77 [{'connected_gene': 'CSNK1G3', 'score': 20.62}, {'connected_gene': 'PPIC', 'score': 15.19}, {'connected_gene': 'ENSG00000260686', 'score': 11.56}, {'connected_gene': 'ZNF474', 'score': 11.36}, {'connected_gene': 'CEP120', 'score': 10.04}, {'connected_gene': 'PRDM6', 'score': 9.17}, {'connected_gene': 'RN7SL689P', 'score': 7.52}, {'connected_gene': 'LOC105379152', 'score': 4.62}, {'connected_gene': 'SNX2', 'score': 0.37}, {'connected_gene': 'LINC02201', 'score': 0.31}]
chr5 GH05I123672 123671790 123673775 0.66 [{'connected_gene': 'CSNK1G3', 'score': 5.11}, {'connected_gene': 'CEP120', 'score': 4.2}, {'connected_gene': 'KRT18P16', 'score': 0.28}, {'connected_gene': 'GC05P123744', 'score': 0.19}]
chr5 GH05I123548 123548108 123551074 0.98 [{'connected_gene': 'CSNK1G3', 'score': 20.28}, {'connected_gene': 'CEP120', 'score': 8.29}, {'connected_gene': 'KRT18P16', 'score': 0.17}]
chr5 GH05I123428 123428685 123430600 1.23 [{'connected_gene': 'CSNK1G3', 'score': 11.17}, {'connected_gene': 'CEP120', 'score': 0.44}, {'connected_gene': 'HMGB3P17', 'score': 0.28}]
chr5 GH05I123088 123088418 123089497 2.06 [{'connected_gene': 'LOC105379152', 'score': 565.93}, {'connected_gene': 'PRDM6', 'score': 550.23}, {'connected_gene': 'SNX2', 'score': 40.27}, {'connected_gene': 'KRT8P33', 'score': 24.64}, {'connected_gene': 'CEP120', 'score': 19.06}, {'connected_gene': 'CSNK1G3', 'score': 11.19}, {'connected_gene': 'RN7SL711P', 'score': 0.37}]
chr5 GH05I123455 123455568 123456957 0.72 [{'connected_gene': 'HMGB3P17', 'score': 0.39}, {'connected_gene': 'CEP120', 'score': 0.29}]
chr5 GH05I123459 123459579 123461697 1.27 [{'connected_gene': 'KRT8P33', 'score': 4.74}, {'connected_gene': 'CEP120', 'score': 1.94}, {'connected_gene': 'HMGB3P17', 'score': 0.44}]
chr5 GH05I123997 123997285 123998538 0.6 [{'connected_gene': 'KRT8P33', 'score': 12.87}, {'connected_gene': 'CEP120', 'score': 10.13}, {'connected_gene': 'GC05P123990', 'score': 0.39}, {'connected_gene': 'GC05M124033', 'score': 0.28}, {'connected_gene': 'GC05P123868', 'score': 0.13}]
chr5 GH05I123916 123916205 123917731 1.1 [{'connected_gene': 'KRT8P33', 'score': 12.88}, {'connected_gene': 'CEP120', 'score': 10.14}, {'connected_gene': 'GC05P123868', 'score': 0.25}, {'connected_gene': 'GC05P123980', 'score': 0.21}]
chr5 GH05I122811 122811826 122813386 0.54 [{'connected_gene': 'ENSG00000260686', 'score': 27.16}, {'connected_gene': 'SNX2', 'score': 21.3}, {'connected_gene': 'CEP120', 'score': 19.58}, {'connected_gene': 'SNX24', 'score': 19.56}, {'connected_gene': 'RN7SL689P', 'score': 15.58}, {'connected_gene': 'KRT8P33', 'score': 10.5}, {'connected_gene': 'ZNF474', 'score': 9.91}, {'connected_gene': 'LOC105379152', 'score': 4.55}, {'connected_gene': 'LOC105379154', 'score': 0.29}]

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