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
ENST00000536355 [[9817564, 9817708], [9833518, 9833629], [9840497, 9840757], [9845423, 9845479]] [[9833583, 9833629], [9840497, 9840694]]
ENST00000487752 [[9821232, 9821391], [9833518, 9833646]] None
ENST00000261340 [[9822308, 9822391], [9833518, 9833629], [9840497, 9840682], [9845423, 9845527], [9845629, 9845711], [9847355, 9847725]] [[9822330, 9822391], [9833518, 9833629], [9840497, 9840682], [9845423, 9845527], [9845629, 9845711], [9847355, 9847397]]
ENST00000290855 [[9822308, 9822391], [9833518, 9833629], [9840497, 9840682], [9845423, 9845527], [9847355, 9847731]] [[9822330, 9822391], [9833518, 9833629], [9840497, 9840682], [9845423, 9845527], [9847355, 9847470]]
ENST00000325960 [[9822308, 9822391], [9833518, 9833629], [9840497, 9840757], [9845423, 9845527], [9845629, 9845711], [9846011, 9846544], [9847355, 9847734]] [[9822330, 9822391], [9833518, 9833629], [9840497, 9840694]]
ENST00000492359 [[9822312, 9822391], [9832785, 9832847], [9833518, 9833629], [9840497, 9840682], [9845423, 9845527]] [[9822330, 9822391], [9832785, 9832847], [9833518, 9833560]]
ENST00000444971 [[9822312, 9822391], [9833518, 9833629], [9840497, 9840757], [9847355, 9848413]] [[9822330, 9822391], [9833518, 9833629], [9840497, 9840694]]
ENST00000479877 [[9822323, 9822391], [9833518, 9833629], [9840497, 9840682], [9845423, 9846544], [9847355, 9847725]] [[9822330, 9822391], [9833518, 9833629], [9840497, 9840682], [9845423, 9845531]]
ENST00000545918 [[9822330, 9822391], [9840497, 9840682], [9847355, 9847397]] [[9822330, 9822391], [9840497, 9840682], [9847355, 9847397]]
ENST00000543300 [[9822330, 9822391], [9833518, 9833629], [9840497, 9840682], [9847355, 9847397]] [[9822330, 9822391], [9833518, 9833629], [9840497, 9840682], [9847355, 9847397]]
ENST00000261339 [[9822330, 9822391], [9840497, 9840682], [9845423, 9845527], [9847355, 9847470]] [[9822330, 9822391], [9840497, 9840682], [9845423, 9845527], [9847355, 9847470]]
ENST00000466035 [[9822348, 9822391], [9840497, 9840682], [9845423, 9845527], [9845629, 9846075]] [[9822348, 9822391], [9840497, 9840682], [9845423, 9845527], [9845629, 9845720]]
ENST00000476198 [[9826603, 9826806], [9833518, 9833629], [9840497, 9840757], [9845423, 9845527], [9845629, 9845932]] [[9833583, 9833629], [9840497, 9840694]]
ENST00000430909 [[9833520, 9833629], [9840497, 9840682], [9845423, 9845527], [9845629, 9845711], [9847355, 9847725]] [[9833520, 9833629], [9840497, 9840682], [9845423, 9845527], [9845629, 9845711], [9847355, 9847397]]
ENST00000544322 [[9833535, 9833629], [9840497, 9840682], [9847355, 9847465]] [[9833535, 9833629], [9840497, 9840682], [9847355, 9847397]]
ENST00000460309 [[9840496, 9840682], [9845423, 9845527], [9846420, 9846544], [9847355, 9847702]] [[9840496, 9840682], [9845423, 9845527], [9846420, 9846532]]
NM_001197319 [[9822303, 9822391], [9840497, 9840682], [9847355, 9852151]] [[9822330, 9822391], [9840497, 9840682], [9847355, 9847397]]
NM_001197317 [[9822303, 9822391], [9840497, 9840682], [9845423, 9845527], [9847355, 9852151]] [[9822330, 9822391], [9840497, 9840682], [9845423, 9845527], [9847355, 9847470]]
NM_001197318 [[9822303, 9822391], [9833518, 9833629], [9840497, 9840682], [9847355, 9852151]] [[9822330, 9822391], [9833518, 9833629], [9840497, 9840682], [9847355, 9847397]]
NM_013269 [[9822303, 9822391], [9833518, 9833629], [9840497, 9840682], [9845423, 9845527], [9847355, 9852151]] [[9822330, 9822391], [9833518, 9833629], [9840497, 9840682], [9845423, 9845527], [9847355, 9847470]]
NM_001004419 [[9822303, 9822391], [9833518, 9833629], [9840497, 9840682], [9845423, 9845527], [9845629, 9845711], [9847355, 9852151]] [[9822330, 9822391], [9833518, 9833629], [9840497, 9840682], [9845423, 9845527], [9845629, 9845711], [9847355, 9847397]]
NR_036693 [[9822303, 9822391], [9833518, 9833629], [9840497, 9840757], [9847355, 9852151]] None
Promoter
Chrom Start End Description
chr12 9821320 9821338 CAGE_peak_6_at_CLEC2D_5end
chr12 9822293 9822320 CAGE_peak_1_at_CLEC2D_5end
chr12 9822334 9822351 CAGE_peak_2_at_CLEC2D_5end
chr12 9822355 9822366 CAGE_peak_3_at_CLEC2D_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I009756 9756259 9766298 2.69 [{'connected_gene': 'CD69', 'score': 576.83}, {'connected_gene': 'CLECL1', 'score': 22.54}, {'connected_gene': 'KLRF1', 'score': 17.17}, {'connected_gene': 'CLEC7A', 'score': 15.09}, {'connected_gene': 'OLR1', 'score': 10.55}, {'connected_gene': 'KLRB1', 'score': 8.76}, {'connected_gene': 'CLEC12A', 'score': 8.02}, {'connected_gene': 'ENSG00000213443', 'score': 6.47}, {'connected_gene': 'DDX12P', 'score': 5.72}, {'connected_gene': 'PZP', 'score': 5.15}, {'connected_gene': 'CLEC2B', 'score': 5.09}, {'connected_gene': 'KLRF2', 'score': 4.52}, {'connected_gene': 'GABARAPL1', 'score': 3.49}, {'connected_gene': 'CLEC2D', 'score': 2.99}, {'connected_gene': 'LOC105369653', 'score': 0.44}]
chr12 GH12I009739 9739002 9743842 1.55 [{'connected_gene': 'CLEC7A', 'score': 21.44}, {'connected_gene': 'CLEC2D', 'score': 17.27}, {'connected_gene': 'KLRB1', 'score': 15.45}, {'connected_gene': 'CLECL1', 'score': 15.1}, {'connected_gene': 'ENSG00000214776', 'score': 11.61}, {'connected_gene': 'CD69', 'score': 11.38}, {'connected_gene': 'ENSG00000213443', 'score': 11.04}, {'connected_gene': 'CLEC2B', 'score': 5.21}, {'connected_gene': 'KLRF1', 'score': 4.5}, {'connected_gene': 'GC12P009745', 'score': 0.77}]
chr12 GH12I010611 10611883 10614807 2.1 [{'connected_gene': 'MAGOHB', 'score': 550.77}, {'connected_gene': 'ENSG00000213443', 'score': 25.18}, {'connected_gene': 'KLRA1P', 'score': 22.3}, {'connected_gene': 'EIF2S3B', 'score': 21.59}, {'connected_gene': 'TAS2R43', 'score': 19.86}, {'connected_gene': 'TAS2R50', 'score': 18.94}, {'connected_gene': 'ENSG00000257027', 'score': 12.12}, {'connected_gene': 'ENSG00000256682', 'score': 11.21}, {'connected_gene': 'STYK1', 'score': 10.94}, {'connected_gene': 'CLEC2D', 'score': 10.82}, {'connected_gene': 'CLEC7A', 'score': 10.73}, {'connected_gene': 'LOC374443', 'score': 10.61}, {'connected_gene': 'ENSG00000256981', 'score': 10.25}, {'connected_gene': 'ENSG00000255958', 'score': 10.11}, {'connected_gene': 'GABARAPL1', 'score': 10.11}, {'connected_gene': 'KLRC3', 'score': 6.16}, {'connected_gene': 'KLRC2', 'score': 5.64}, {'connected_gene': 'KLRK1', 'score': 4.38}]
chr12 GH12I009447 9447095 9449943 1.48 [{'connected_gene': 'DDX12P', 'score': 575.68}, {'connected_gene': 'ENSG00000284634', 'score': 550.77}, {'connected_gene': 'LOC105376678', 'score': 550.77}, {'connected_gene': 'LOC728715', 'score': 34.88}, {'connected_gene': 'LOC642846', 'score': 22.0}, {'connected_gene': 'ENSG00000214776', 'score': 21.69}, {'connected_gene': 'M6PR', 'score': 15.98}, {'connected_gene': 'CLEC2D', 'score': 13.07}, {'connected_gene': 'ENSG00000213443', 'score': 12.39}, {'connected_gene': 'LINC00612', 'score': 10.0}, {'connected_gene': 'LOC374443', 'score': 4.9}]
chr12 GH12I009605 9605276 9608523 1.03 [{'connected_gene': 'KLRB1', 'score': 552.53}, {'connected_gene': 'CLEC2D', 'score': 24.71}, {'connected_gene': 'ENSG00000214776', 'score': 14.81}, {'connected_gene': 'LOC642846', 'score': 13.48}, {'connected_gene': 'KLRF2', 'score': 12.5}, {'connected_gene': 'DDX12P', 'score': 11.77}, {'connected_gene': 'LOC374443', 'score': 8.89}, {'connected_gene': 'LINC02367', 'score': 6.23}, {'connected_gene': 'KLRF1', 'score': 2.03}, {'connected_gene': 'PIR60914', 'score': 0.28}, {'connected_gene': 'ENSG00000284634', 'score': 0.1}]
chr12 GH12I009614 9614867 9618149 0.9 [{'connected_gene': 'LOC374443', 'score': 557.6}, {'connected_gene': 'CLEC2D', 'score': 39.27}, {'connected_gene': 'KLRB1', 'score': 23.06}, {'connected_gene': 'KLRF1', 'score': 15.11}, {'connected_gene': 'ENSG00000214776', 'score': 13.73}, {'connected_gene': 'ENSG00000257027', 'score': 11.46}, {'connected_gene': 'CD69', 'score': 10.53}, {'connected_gene': 'CLECL1', 'score': 10.5}, {'connected_gene': 'CLEC2B', 'score': 2.77}, {'connected_gene': 'ENSG00000284634', 'score': 0.1}]
chr12 GH12I009663 9663859 9665866 0.38 [{'connected_gene': 'CLEC2D', 'score': 579.03}, {'connected_gene': 'LOC374443', 'score': 30.97}, {'connected_gene': 'ENSG00000213443', 'score': 6.23}, {'connected_gene': 'ENSG00000257027', 'score': 0.44}]
chr12 GH12I009699 9699801 9700214 0.71 [{'connected_gene': 'CLEC2D', 'score': 11.33}, {'connected_gene': 'ENSG00000257027', 'score': 11.32}, {'connected_gene': 'CLECL1', 'score': 11.25}, {'connected_gene': 'ENSG00000213443', 'score': 10.4}, {'connected_gene': 'KLRB1', 'score': 10.27}, {'connected_gene': 'LOC374443', 'score': 9.82}, {'connected_gene': 'PIR44219', 'score': 0.77}, {'connected_gene': 'LINC02390', 'score': 0.77}, {'connected_gene': 'GC12P009754', 'score': 0.44}]
chr12 GH12I009666 9666359 9675734 1.83 [{'connected_gene': 'CLEC2D', 'score': 575.69}, {'connected_gene': 'ENSG00000213443', 'score': 13.72}, {'connected_gene': 'CLECL1', 'score': 13.43}, {'connected_gene': 'ENSG00000257027', 'score': 11.51}, {'connected_gene': 'ENSG00000214776', 'score': 11.23}, {'connected_gene': 'LOC374443', 'score': 10.39}, {'connected_gene': 'LOC728715', 'score': 6.04}, {'connected_gene': 'ENSG00000255753', 'score': 5.43}, {'connected_gene': 'GC12M012111', 'score': 0.44}]
chr12 GH12I009705 9705952 9706615 0.83 [{'connected_gene': 'CLEC2D', 'score': 11.38}, {'connected_gene': 'ENSG00000257027', 'score': 11.37}, {'connected_gene': 'CLECL1', 'score': 11.25}, {'connected_gene': 'LINC02390', 'score': 0.77}, {'connected_gene': 'GC12P009754', 'score': 0.39}]
chr12 GH12I009720 9720669 9733754 2.06 [{'connected_gene': 'CLECL1', 'score': 588.58}, {'connected_gene': 'KLRB1', 'score': 13.39}, {'connected_gene': 'ENSG00000213443', 'score': 12.73}, {'connected_gene': 'ENSG00000257027', 'score': 10.26}, {'connected_gene': 'OLR1', 'score': 9.4}, {'connected_gene': 'CLEC12A', 'score': 8.41}, {'connected_gene': 'CD69', 'score': 6.52}, {'connected_gene': 'CLEC7A', 'score': 6.28}, {'connected_gene': 'LINC02367', 'score': 5.41}, {'connected_gene': 'LOC374443', 'score': 5.01}, {'connected_gene': 'LOC642846', 'score': 4.61}, {'connected_gene': 'CLEC2D', 'score': 3.69}, {'connected_gene': 'CLEC2B', 'score': 1.98}, {'connected_gene': 'CLEC2A', 'score': 1.71}, {'connected_gene': 'LINC02390', 'score': 0.34}, {'connected_gene': 'GC12P009754', 'score': 0.29}]
chr12 GH12I009685 9685112 9687807 0.98 [{'connected_gene': 'CLECL1', 'score': 25.16}, {'connected_gene': 'ENSG00000213443', 'score': 13.35}, {'connected_gene': 'ENSG00000257027', 'score': 11.06}, {'connected_gene': 'KLRB1', 'score': 10.55}, {'connected_gene': 'GC12M012111', 'score': 0.44}, {'connected_gene': 'GC12P009754', 'score': 0.44}, {'connected_gene': 'CLEC2D', 'score': 0.34}]
chr12 GH12I009712 9712022 9716177 0.8 [{'connected_gene': 'CLECL1', 'score': 22.07}, {'connected_gene': 'ENSG00000257027', 'score': 15.61}, {'connected_gene': 'ENSG00000213443', 'score': 12.06}, {'connected_gene': 'CLEC2D', 'score': 11.15}, {'connected_gene': 'KLRB1', 'score': 10.45}, {'connected_gene': 'LOC374443', 'score': 9.75}, {'connected_gene': 'LOC642846', 'score': 4.47}, {'connected_gene': 'LINC02390', 'score': 0.39}, {'connected_gene': 'GC12P009754', 'score': 0.37}]
chr12 GH12I009688 9688474 9691355 0.38 [{'connected_gene': 'CLECL1', 'score': 25.93}, {'connected_gene': 'ENSG00000257027', 'score': 22.72}, {'connected_gene': 'ENSG00000213443', 'score': 13.53}, {'connected_gene': 'CLEC2D', 'score': 12.02}, {'connected_gene': 'GC12P009754', 'score': 0.77}, {'connected_gene': 'GC12M012111', 'score': 0.44}]
chr12 GH12I009646 9646723 9656743 2.29 [{'connected_gene': 'LOC105369728', 'score': 550.77}, {'connected_gene': 'CLEC2D', 'score': 39.35}, {'connected_gene': 'LOC374443', 'score': 32.68}, {'connected_gene': 'DDX12P', 'score': 18.78}, {'connected_gene': 'KLRB1', 'score': 17.77}, {'connected_gene': 'CLECL1', 'score': 17.05}, {'connected_gene': 'CLEC7A', 'score': 16.86}, {'connected_gene': 'M6PR', 'score': 15.96}, {'connected_gene': 'CLEC12A', 'score': 15.45}, {'connected_gene': 'LOC642846', 'score': 13.69}, {'connected_gene': 'ENSG00000213443', 'score': 12.59}, {'connected_gene': 'ENSG00000214776', 'score': 12.04}, {'connected_gene': 'PHC1', 'score': 11.55}, {'connected_gene': 'EIF2S3B', 'score': 10.79}, {'connected_gene': 'LINC00612', 'score': 9.98}, {'connected_gene': 'RIMKLB', 'score': 9.8}, {'connected_gene': 'CD69', 'score': 9.09}, {'connected_gene': 'CLEC2B', 'score': 6.11}, {'connected_gene': 'KLRA1P', 'score': 5.23}, {'connected_gene': 'KLRF1', 'score': 3.79}, {'connected_gene': 'ENSG00000272917', 'score': 0.44}, {'connected_gene': 'ENSG00000284634', 'score': 0.08}]
chr12 GH12I009767 9767703 9768978 0.31 [{'connected_gene': 'LOC105369653', 'score': 550.77}, {'connected_gene': 'CLEC2D', 'score': 4.79}, {'connected_gene': 'CD69', 'score': 0.44}]
chr12 GH12I009701 9701437 9703658 1.27 [{'connected_gene': 'LINC02390', 'score': 550.77}, {'connected_gene': 'CLECL1', 'score': 33.04}, {'connected_gene': 'PHC1', 'score': 23.04}, {'connected_gene': 'CLEC2D', 'score': 20.17}, {'connected_gene': 'KLRA1P', 'score': 15.05}, {'connected_gene': 'LOC642846', 'score': 14.94}, {'connected_gene': 'KLRB1', 'score': 14.44}, {'connected_gene': 'DDX12P', 'score': 14.25}, {'connected_gene': 'LINC00612', 'score': 13.27}, {'connected_gene': 'ENSG00000213443', 'score': 13.11}, {'connected_gene': 'ENSG00000257027', 'score': 11.32}, {'connected_gene': 'ENSG00000255753', 'score': 10.96}, {'connected_gene': 'LOC374443', 'score': 9.81}, {'connected_gene': 'CD69', 'score': 3.87}, {'connected_gene': 'CLEC2B', 'score': 3.04}, {'connected_gene': 'PIR44219', 'score': 0.44}, {'connected_gene': 'GC12P009754', 'score': 0.44}]
chr12 GH12I010360 10360605 10367874 1.96 [{'connected_gene': 'LOC101928100', 'score': 568.77}, {'connected_gene': 'KLRK1', 'score': 17.18}, {'connected_gene': 'DDX12P', 'score': 16.54}, {'connected_gene': 'ENSG00000213443', 'score': 14.66}, {'connected_gene': 'KLRA1P', 'score': 13.55}, {'connected_gene': 'EIF2S3B', 'score': 12.53}, {'connected_gene': 'ENSG00000257027', 'score': 12.12}, {'connected_gene': 'ENSG00000256682', 'score': 11.18}, {'connected_gene': 'CLEC2D', 'score': 10.82}, {'connected_gene': 'ENSG00000255958', 'score': 10.63}, {'connected_gene': 'GABARAPL1', 'score': 10.62}, {'connected_gene': 'LOC374443', 'score': 10.61}, {'connected_gene': 'TAS2R43', 'score': 10.53}, {'connected_gene': 'STYK1', 'score': 10.52}, {'connected_gene': 'ENSG00000214776', 'score': 10.45}, {'connected_gene': 'TAS2R50', 'score': 10.27}, {'connected_gene': 'KLRC1', 'score': 10.02}, {'connected_gene': 'LOC728715', 'score': 9.8}, {'connected_gene': 'ENSG00000256155', 'score': 0.77}, {'connected_gene': 'GC12P010386', 'score': 0.34}, {'connected_gene': 'KLRD1', 'score': 0.12}]
chr12 GH12I009363 9363801 9366260 1.08 [{'connected_gene': 'GC12M012103', 'score': 550.77}, {'connected_gene': 'PIR43642', 'score': 550.77}, {'connected_gene': 'PIR60331', 'score': 550.77}, {'connected_gene': 'PIR50327', 'score': 550.77}, {'connected_gene': 'PIR39992', 'score': 550.77}, {'connected_gene': 'PIR31940', 'score': 550.77}, {'connected_gene': 'PIR44256', 'score': 550.77}, {'connected_gene': 'PIR35562', 'score': 550.77}, {'connected_gene': 'PIR61151', 'score': 550.77}, {'connected_gene': 'PIR47949', 'score': 550.77}, {'connected_gene': 'PIR54085', 'score': 550.77}, {'connected_gene': 'GC12P009747', 'score': 550.77}, {'connected_gene': 'PIR46832', 'score': 550.77}, {'connected_gene': 'GC12M012047', 'score': 550.77}, {'connected_gene': 'PIR36051', 'score': 550.77}, {'connected_gene': 'GC12M012077', 'score': 550.77}, {'connected_gene': 'PIR42819', 'score': 550.77}, {'connected_gene': 'PIR32856', 'score': 550.77}, {'connected_gene': 'PIR37363', 'score': 550.77}, {'connected_gene': 'GC12P009731', 'score': 550.77}, {'connected_gene': 'GC12M012023', 'score': 550.77}, {'connected_gene': 'GC12M012059', 'score': 550.77}, {'connected_gene': 'ENSG00000214776', 'score': 14.73}, {'connected_gene': 'LOC728715', 'score': 11.62}, {'connected_gene': 'DDX12P', 'score': 11.15}, {'connected_gene': 'M6PR', 'score': 11.0}, {'connected_gene': 'ENSG00000213443', 'score': 10.11}, {'connected_gene': 'CLEC2D', 'score': 5.84}, {'connected_gene': 'LOC642846', 'score': 5.45}, {'connected_gene': 'CLEC6A', 'score': 4.57}, {'connected_gene': 'LINC00937', 'score': 4.51}, {'connected_gene': 'CLEC2B', 'score': 4.31}, {'connected_gene': 'PIRC54', 'score': 0.77}]
chr12 GH12I009642 9642499 9644501 0.2 [{'connected_gene': 'ENSG00000272917', 'score': 550.77}, {'connected_gene': 'GOT2P3', 'score': 550.77}, {'connected_gene': 'LOC105369728', 'score': 29.3}, {'connected_gene': 'CLEC2D', 'score': 21.03}, {'connected_gene': 'LOC374443', 'score': 15.95}, {'connected_gene': 'CLECL1', 'score': 11.31}, {'connected_gene': 'KLRB1', 'score': 11.14}, {'connected_gene': 'ENSG00000214776', 'score': 7.27}, {'connected_gene': 'KLRA1P', 'score': 4.11}, {'connected_gene': 'ENSG00000284634', 'score': 0.08}]
chr12 GH12I009658 9658702 9659567 0.2 [{'connected_gene': 'ENSG00000257027', 'score': 562.78}, {'connected_gene': 'LOC374443', 'score': 31.72}, {'connected_gene': 'CLEC2D', 'score': 26.3}, {'connected_gene': 'ENSG00000214776', 'score': 11.16}, {'connected_gene': 'ENSG00000213443', 'score': 5.81}, {'connected_gene': 'LOC728715', 'score': 5.2}]
chr12 GH12I009659 9659684 9661240 0.2 [{'connected_gene': 'ENSG00000257027', 'score': 550.77}, {'connected_gene': 'LOC374443', 'score': 31.65}, {'connected_gene': 'CLEC2D', 'score': 26.63}, {'connected_gene': 'ENSG00000214776', 'score': 11.16}]
chr12 GH12I009450 9450759 9451880 0.38 [{'connected_gene': 'ENSG00000214776', 'score': 21.88}, {'connected_gene': 'CLEC2D', 'score': 12.87}, {'connected_gene': 'LOC105376678', 'score': 0.77}, {'connected_gene': 'ENSG00000284634', 'score': 0.77}]
chr12 GH12I009662 9662645 9662794 0.63 [{'connected_gene': 'ENSG00000257027', 'score': 0.77}, {'connected_gene': 'CLEC2D', 'score': 0.77}]
chr12 GH12I009677 9677801 9678000 0.4 [{'connected_gene': 'GC12M012111', 'score': 0.77}, {'connected_gene': 'CLEC2D', 'score': 0.39}]
chr12 GH12I009679 9679613 9680693 0.2 [{'connected_gene': 'GC12M012111', 'score': 550.77}, {'connected_gene': 'ENSG00000257027', 'score': 20.42}, {'connected_gene': 'CLECL1', 'score': 11.23}, {'connected_gene': 'CLEC2D', 'score': 0.37}]

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