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
ENST00000340979 [[158979681, 158979951], [158984450, 158984735], [158985661, 158985777], [158986322, 158986490], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159021468, 159021888], [159023322, 159023514], [159024610, 159024943]] [[158984470, 158984735], [158985661, 158985777], [158986322, 158986490], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159021468, 159021888], [159023322, 159023514], [159024610, 159024691]]
ENST00000368131 [[158979681, 158979951], [158984450, 158984735], [158985661, 158985777], [158986322, 158986490], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159015086, 159015254], [159021468, 159021888], [159023322, 159023514], [159024610, 159024945]] [[158984470, 158984735], [158985661, 158985777], [158986322, 158986490], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159015086, 159015254], [159021468, 159021888], [159023322, 159023514], [159024610, 159024691]]
ENST00000368132 [[158979707, 158979951], [158984450, 158984735], [158985661, 158985777], [158986322, 158986490], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159019221, 159019389], [159021468, 159021888], [159023322, 159023514], [159024610, 159024941]] [[158984470, 158984735], [158985661, 158985777], [158986322, 158986490], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159019221, 159019389], [159021468, 159021888], [159023322, 159023514], [159024610, 159024691]]
ENST00000483916 [[158979707, 158979951], [158984450, 158984735], [158985661, 158985777], [158986322, 158986490], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159019221, 159019389], [159021468, 159023514], [159024610, 159024941]] None
ENST00000493884 [[158979707, 158979951], [158984450, 158984735], [158985661, 158985777], [158986322, 158986490], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159015086, 159015254], [159021468, 159023514], [159024610, 159024941]] None
ENST00000295809 [[158979716, 158979951], [158984450, 158984735], [158985661, 158985777], [158986322, 158986490], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159015086, 159015254], [159019221, 159019389], [159021468, 159021888], [159023322, 159023514], [159024610, 159024945]] [[158984470, 158984735], [158985661, 158985777], [158986322, 158986490], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159015086, 159015254], [159019221, 159019389], [159021468, 159021888], [159023322, 159023514], [159024610, 159024691]]
ENST00000430894 [[158979799, 158979951], [158984450, 158984735], [158985661, 158985777], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159015086, 159015254], [159019221, 159019389], [159021468, 159021888], [159023322, 159023514], [159024610, 159024938]] [[158984458, 158984735], [158985661, 158985777], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159015086, 159015254], [159019221, 159019389], [159021468, 159021888], [159023322, 159023514], [159024610, 159024691]]
ENST00000359709 [[158979799, 158979951], [158984450, 158984735], [158985661, 158985777], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159015086, 159015254], [159019221, 159019389], [159021468, 159021888], [159023322, 159023514], [159024610, 159024938]] [[158984470, 158984735], [158985661, 158985777], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159015086, 159015254], [159019221, 159019389], [159021468, 159021888], [159023322, 159023514], [159024610, 159024691]]
ENST00000448393 [[158984470, 158984735], [158985661, 158985777], [158986322, 158986490], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159021468, 159021888], [159023322, 159023514], [159024610, 159024914]] [[158984470, 158984735], [158985661, 158985777], [158986322, 158986490], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159021468, 159021888], [159023322, 159023514], [159024610, 159024691]]
ENST00000566111 [[158969757, 158970185], [158979792, 158979951], [158984450, 158984719]] [[158984470, 158984719]]
ENST00000426592 [[158975751, 158975831], [158979792, 158979951], [158984450, 158984735], [158985661, 158985777], [158986322, 158986443]] [[158984470, 158984735], [158985661, 158985777], [158986322, 158986443]]
ENST00000447473 [[158978784, 158979015], [158979792, 158979951], [158984450, 158984735], [158985661, 158985777], [158986322, 158986482]] [[158984470, 158984735], [158985661, 158985777], [158986322, 158986482]]
ENST00000567661 [[158985462, 158985777], [158986407, 158986490], [158988018, 158988166]] [[158986415, 158986490], [158988018, 158988166]]
ENST00000474473 [[158985462, 158985777], [158986322, 158986490], [158988018, 158988441], [158990130, 158990319]] [[158986415, 158986490], [158988018, 158988441], [158990130, 158990319]]
ENST00000562225 [[159002293, 159002481], [159021468, 159021888], [159023322, 159023514], [159024610, 159024918]] None
NM_001206567 [[158979681, 158979951], [158984450, 158984735], [158985661, 158985777], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159015086, 159015254], [159019221, 159019389], [159021468, 159021888], [159023322, 159023514], [159024610, 159024945]] [[158984470, 158984735], [158985661, 158985777], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159015086, 159015254], [159019221, 159019389], [159021468, 159021888], [159023322, 159023514], [159024610, 159024691]]
NM_005531 [[158979681, 158979951], [158984450, 158984735], [158985661, 158985777], [158986322, 158986490], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159015086, 159015254], [159021468, 159021888], [159023322, 159023514], [159024610, 159024945]] [[158984470, 158984735], [158985661, 158985777], [158986322, 158986490], [158988018, 158988441], [158990130, 158990319], [159002313, 159002481], [159015086, 159015254], [159021468, 159021888], [159023322, 159023514], [159024610, 159024691]]
Promoter
Chrom Start End Description
chr1 158969727 158969749 CAGE_peak_11_at_IFI16_5end
chr1 158969752 158969780 CAGE_peak_6_at_IFI16_5end
chr1 158975744 158975769 CAGE_peak_10_at_IFI16_5end
chr1 158978745 158978754 CAGE_peak_27_at_IFI16_5end
chr1 158978768 158978800 CAGE_peak_8_at_IFI16_5end
chr1 158978805 158978820 CAGE_peak_23_at_IFI16_5end
chr1 158978830 158978851 CAGE_peak_22_at_IFI16_5end
chr1 158978863 158978877 CAGE_peak_26_at_IFI16_5end
chr1 158979680 158979683 CAGE_peak_9_at_IFI16_5end
chr1 158979686 158979745 CAGE_peak_1_at_IFI16_5end
chr1 158979792 158979814 CAGE_peak_2_at_IFI16_5end
chr1 158979851 158979865 CAGE_peak_5_at_IFI16_5end
chr1 158979872 158979898 CAGE_peak_3_at_IFI16_5end
chr1 158979922 158979933 CAGE_peak_13_at_IFI16_5end
chr1 158985457 158985468 CAGE_peak_12_at_IFI16_5end
chr1 158985469 158985489 CAGE_peak_7_at_IFI16_5end
chr1 158985493 158985535 CAGE_peak_4_at_IFI16_5end
chr1 158985536 158985545 CAGE_peak_18_at_IFI16_5end
chr1 158985553 158985574 CAGE_peak_14_at_IFI16_5end
chr1 158985633 158985641 CAGE_peak_38_at_IFI16_5end
chr1 158985667 158985675 CAGE_peak_31_at_IFI16_5end
chr1 158985686 158985719 CAGE_peak_15_at_IFI16_5end
chr1 158985723 158985746 CAGE_peak_20_at_IFI16_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I159031 159031940 159033928 0.2 [{'connected_gene': 'AIM2', 'score': 6.06}, {'connected_gene': 'ACKR1', 'score': 5.64}, {'connected_gene': 'GC01M159011', 'score': 0.37}, {'connected_gene': 'LOC105371461', 'score': 0.34}, {'connected_gene': 'IFI16', 'score': 0.29}]
chr1 GH01I159046 159046567 159049886 0.2 [{'connected_gene': 'AIM2', 'score': 8.21}, {'connected_gene': 'LOC105371461', 'score': 0.44}, {'connected_gene': 'GC01M159011', 'score': 0.29}, {'connected_gene': 'IFI16', 'score': 0.25}]
chr1 GH01I159050 159050196 159051735 0.2 [{'connected_gene': 'AIM2', 'score': 6.79}, {'connected_gene': 'LOC105371461', 'score': 0.44}, {'connected_gene': 'GC01M159011', 'score': 0.28}, {'connected_gene': 'IFI16', 'score': 0.23}]
chr1 GH01I159042 159042279 159045751 0.2 [{'connected_gene': 'AIM2', 'score': 8.71}, {'connected_gene': 'LOC105371461', 'score': 0.39}, {'connected_gene': 'GC01M159011', 'score': 0.31}, {'connected_gene': 'IFI16', 'score': 0.26}]
chr1 GH01I158808 158808601 158811200 0.79 [{'connected_gene': 'OR10AA1P', 'score': 550.77}, {'connected_gene': 'MNDA', 'score': 14.81}, {'connected_gene': 'OR6N2', 'score': 11.29}, {'connected_gene': 'OR6N1', 'score': 10.41}, {'connected_gene': 'OR6K2', 'score': 9.47}, {'connected_gene': 'PYHIN1', 'score': 1.82}, {'connected_gene': 'IFI16', 'score': 1.23}]
chr1 GH01I159054 159054014 159056205 0.63 [{'connected_gene': 'OR6K2', 'score': 9.1}, {'connected_gene': 'AIM2', 'score': 7.2}, {'connected_gene': 'LOC105371461', 'score': 0.77}, {'connected_gene': 'GC01M159011', 'score': 0.26}, {'connected_gene': 'IFI16', 'score': 0.22}]
chr1 GH01I159039 159039194 159041487 0.63 [{'connected_gene': 'OR6N2', 'score': 9.39}, {'connected_gene': 'AIM2', 'score': 7.27}, {'connected_gene': 'LOC105371461', 'score': 0.37}, {'connected_gene': 'GC01M159011', 'score': 0.31}, {'connected_gene': 'IFI16', 'score': 0.26}]
chr1 GH01I158969 158969438 158970560 0.43 [{'connected_gene': 'OR6N2', 'score': 10.44}, {'connected_gene': 'OR6N1', 'score': 10.08}, {'connected_gene': 'OR10X1', 'score': 9.56}, {'connected_gene': 'ACKR1', 'score': 5.26}, {'connected_gene': 'PIR57461', 'score': 0.44}, {'connected_gene': 'IFI16', 'score': 0.31}, {'connected_gene': 'PYHIN1', 'score': 0.28}]
chr1 GH01I159084 159084401 159085290 0.79 [{'connected_gene': 'MNDA', 'score': 24.13}, {'connected_gene': 'AIM2', 'score': 8.13}, {'connected_gene': 'IFI16', 'score': 2.69}, {'connected_gene': 'RAD1P2', 'score': 0.77}, {'connected_gene': 'GC01M159143', 'score': 0.22}, {'connected_gene': 'TRR-TCT4-1', 'score': 0.22}]
chr1 GH01I158818 158818401 158820469 1.61 [{'connected_gene': 'MNDA', 'score': 17.09}, {'connected_gene': 'CD1D', 'score': 4.5}, {'connected_gene': 'PYHIN1', 'score': 1.31}, {'connected_gene': 'IFI16', 'score': 1.21}, {'connected_gene': 'OR10AA1P', 'score': 0.39}]
chr1 GH01I158834 158834201 158840800 1.07 [{'connected_gene': 'MNDA', 'score': 8.57}, {'connected_gene': 'IFI16', 'score': 1.24}, {'connected_gene': 'PYHIN5P', 'score': 0.26}]
chr1 GH01I158800 158800201 158804400 1 [{'connected_gene': 'MNDA', 'score': 25.29}, {'connected_gene': 'OR6N1', 'score': 11.2}, {'connected_gene': 'OR6N2', 'score': 11.09}, {'connected_gene': 'PYHIN1', 'score': 1.75}, {'connected_gene': 'IFI16', 'score': 1.35}, {'connected_gene': 'OR2AQ1P', 'score': 0.44}, {'connected_gene': 'OR10AA1P', 'score': 0.44}]
chr1 GH01I158998 158998771 159001259 1.73 [{'connected_gene': 'IFI16', 'score': 564.71}, {'connected_gene': 'AIM2', 'score': 1.45}, {'connected_gene': 'GC01M159011', 'score': 0.39}]
chr1 GH01I159004 159004768 159017376 2.67 [{'connected_gene': 'IFI16', 'score': 569.21}, {'connected_gene': 'OR6N2', 'score': 10.04}, {'connected_gene': 'CADM3-AS1', 'score': 9.97}, {'connected_gene': 'RAD1P2', 'score': 9.97}, {'connected_gene': 'ACKR1', 'score': 6.26}, {'connected_gene': 'AIM2', 'score': 2.44}, {'connected_gene': 'PYHIN1', 'score': 1.42}, {'connected_gene': 'GC01M159011', 'score': 0.77}]
chr1 GH01I158646 158646201 158646920 0.54 [{'connected_gene': 'IFI16', 'score': 5.26}, {'connected_gene': 'OR10Z1', 'score': 0.26}, {'connected_gene': 'SPTA1', 'score': 0.26}]
chr1 GH01I158996 158996411 158996560 0.69 [{'connected_gene': 'IFI16', 'score': 7.47}, {'connected_gene': 'PIR57461', 'score': 0.29}]
chr1 GH01I158972 158972927 158973135 0.42 [{'connected_gene': 'FCER1A', 'score': 9.49}, {'connected_gene': 'OR6N1', 'score': 7.46}, {'connected_gene': 'OR6K3', 'score': 5.78}, {'connected_gene': 'OR10Z1', 'score': 5.33}, {'connected_gene': 'DUSP23', 'score': 4.35}, {'connected_gene': 'OR10R2', 'score': 4.02}, {'connected_gene': 'OR10X1', 'score': 3.6}, {'connected_gene': 'OR6N2', 'score': 3.56}, {'connected_gene': 'PYHIN1', 'score': 2.72}, {'connected_gene': 'OR6P1', 'score': 2.0}, {'connected_gene': 'OR10J1', 'score': 1.65}, {'connected_gene': 'PIR57461', 'score': 0.39}, {'connected_gene': 'IFI16', 'score': 0.31}]
chr1 GH01I158997 158997131 158997280 0.4 [{'connected_gene': 'PYHIN1', 'score': 4.35}, {'connected_gene': 'IFI16', 'score': 0.77}, {'connected_gene': 'PIR57461', 'score': 0.29}]
chr1 GH01I159024 159024897 159025358 0.49 [{'connected_gene': 'OR6N1', 'score': 3.98}, {'connected_gene': 'OR6K3', 'score': 3.46}, {'connected_gene': 'FCER1A', 'score': 3.11}, {'connected_gene': 'OR6N2', 'score': 2.63}, {'connected_gene': 'OR10Z1', 'score': 2.59}, {'connected_gene': 'IFI16', 'score': 2.2}, {'connected_gene': 'OR10X1', 'score': 2.02}, {'connected_gene': 'OR6P1', 'score': 1.48}, {'connected_gene': 'MNDA', 'score': 1.27}, {'connected_gene': 'GC01M159011', 'score': 0.39}, {'connected_gene': 'LOC105371461', 'score': 0.29}]
chr1 GH01I158978 158978457 158979039 0.2 [{'connected_gene': 'PIR57461', 'score': 0.37}, {'connected_gene': 'IFI16', 'score': 0.34}, {'connected_gene': 'PYHIN1', 'score': 0.25}]
chr1 GH01I159019 159019455 159020573 0.2 [{'connected_gene': 'GC01M159011', 'score': 0.44}, {'connected_gene': 'IFI16', 'score': 0.34}, {'connected_gene': 'LOC105371461', 'score': 0.28}]
chr1 GH01I159017 159017707 159019244 0.2 [{'connected_gene': 'GC01M159011', 'score': 0.77}, {'connected_gene': 'IFI16', 'score': 0.37}, {'connected_gene': 'LOC105371461', 'score': 0.28}]

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