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
ENST00000395891 [[43152197, 43152536], [43153755, 43153990], [43283473, 43283531], [43351361, 43351686], [43360233, 43360341], [43400484, 43400579], [43436412, 43436488], [43447160, 43447330], [43477601, 43477744], [43482127, 43482228], [43483816, 43485169], [43490426, 43490528], [43495895, 43496046], [43503258, 43503398], [43506045, 43506167], [43508518, 43508704], [43519208, 43519343], [43531673, 43531779], [43532682, 43532779], [43540297, 43540381], [43540811, 43540921], [43546735, 43546856], [43547616, 43547730], [43548567, 43548720], [43580761, 43580860], [43581467, 43581597], [43590043, 43590190], [43591820, 43591935], [43594190, 43594389], [43601413, 43605600]] [[43283504, 43283531], [43351361, 43351686], [43360233, 43360341], [43400484, 43400579], [43436412, 43436488], [43447160, 43447330], [43477601, 43477744], [43482127, 43482228], [43483816, 43485169], [43490426, 43490528], [43495895, 43496046], [43503258, 43503398], [43506045, 43506167], [43508518, 43508704], [43519208, 43519343], [43531673, 43531779], [43532682, 43532779], [43540297, 43540381], [43540811, 43540921], [43546735, 43546856], [43547616, 43547730], [43548567, 43548720], [43580761, 43580860], [43581467, 43581597], [43590043, 43590190], [43591820, 43591935], [43594190, 43594389], [43601413, 43601525]]
ENST00000490954 [[43152227, 43152536], [43351361, 43351583]] None
ENST00000453890 [[43152243, 43152536], [43283473, 43283531], [43351361, 43351686], [43360233, 43360341], [43400484, 43400579], [43436412, 43436488], [43447160, 43447330], [43477601, 43477744], [43482127, 43482228], [43483816, 43485169], [43495895, 43496046], [43503258, 43503398], [43506045, 43506167], [43508518, 43508704], [43519208, 43519343], [43531673, 43531779], [43532682, 43532779], [43540297, 43540381], [43540811, 43540921], [43546735, 43546856], [43547616, 43547730], [43548567, 43548720], [43580761, 43580860], [43581467, 43581597], [43590043, 43590190], [43591820, 43591935], [43594190, 43594389], [43601413, 43601651]] [[43283504, 43283531], [43351361, 43351686], [43360233, 43360341], [43400484, 43400579], [43436412, 43436488], [43447160, 43447330], [43477601, 43477744], [43482127, 43482228], [43483816, 43485169], [43495895, 43496046], [43503258, 43503398], [43506045, 43506167], [43508518, 43508704], [43519208, 43519343], [43531673, 43531779], [43532682, 43532779], [43540297, 43540381], [43540811, 43540921], [43546735, 43546856], [43547616, 43547730], [43548567, 43548720], [43580761, 43580860], [43581467, 43581597], [43590043, 43590190], [43591820, 43591935], [43594190, 43594389], [43601413, 43601525]]
ENST00000492310 [[43153339, 43153990], [43351361, 43351686], [43360233, 43360341], [43400484, 43400579], [43436412, 43436488], [43447160, 43447330], [43477601, 43478362]] None
ENST00000471527 [[43288185, 43288246], [43288817, 43289078], [43298133, 43298308]] None
ENST00000493057 [[43288534, 43289078], [43298133, 43298339]] None
ENST00000464944 [[43288735, 43289078], [43351361, 43351592]] None
ENST00000481031 [[43417376, 43417542], [43436412, 43436488], [43447160, 43447330]] None
ENST00000471043 [[43436271, 43436318], [43436412, 43436488], [43447160, 43447330], [43477601, 43480196]] None
ENST00000461842 [[43519206, 43519343], [43523742, 43524214]] None
ENST00000429529 [[43519251, 43519343], [43562647, 43562745], [43580761, 43580860], [43581467, 43581593]] [[43519251, 43519343], [43562647, 43562745], [43580761, 43580860], [43581467, 43581593]]
NM_001287059 [[43152197, 43152536], [43283473, 43283531], [43351361, 43351686], [43360233, 43360341], [43400484, 43400579], [43436412, 43436488], [43447160, 43447330], [43477601, 43477744], [43482127, 43482228], [43483816, 43485169], [43495895, 43496046], [43503258, 43503398], [43506045, 43506167], [43508518, 43508704], [43519208, 43519343], [43531673, 43531779], [43532682, 43532779], [43540297, 43540381], [43540811, 43540921], [43546735, 43546856], [43547616, 43547730], [43548567, 43548720], [43580761, 43580860], [43581467, 43581597], [43590043, 43590190], [43591820, 43591935], [43594190, 43594389], [43601413, 43602938]] [[43283504, 43283531], [43351361, 43351686], [43360233, 43360341], [43400484, 43400579], [43436412, 43436488], [43447160, 43447330], [43477601, 43477744], [43482127, 43482228], [43483816, 43485169], [43495895, 43496046], [43503258, 43503398], [43506045, 43506167], [43508518, 43508704], [43519208, 43519343], [43531673, 43531779], [43532682, 43532779], [43540297, 43540381], [43540811, 43540921], [43546735, 43546856], [43547616, 43547730], [43548567, 43548720], [43580761, 43580860], [43581467, 43581597], [43590043, 43590190], [43591820, 43591935], [43594190, 43594389], [43601413, 43601525]]
NM_015052 [[43152197, 43152536], [43153755, 43153990], [43283473, 43283531], [43351361, 43351686], [43360233, 43360341], [43400484, 43400579], [43436412, 43436488], [43447160, 43447330], [43477601, 43477744], [43482127, 43482228], [43483816, 43485169], [43490426, 43490528], [43495895, 43496046], [43503258, 43503398], [43506045, 43506167], [43508518, 43508704], [43519208, 43519343], [43531673, 43531779], [43532682, 43532779], [43540297, 43540381], [43540811, 43540921], [43546735, 43546856], [43547616, 43547730], [43548567, 43548720], [43580761, 43580860], [43581467, 43581597], [43590043, 43590190], [43591820, 43591935], [43594190, 43594389], [43601413, 43602938]] [[43283504, 43283531], [43351361, 43351686], [43360233, 43360341], [43400484, 43400579], [43436412, 43436488], [43447160, 43447330], [43477601, 43477744], [43482127, 43482228], [43483816, 43485169], [43490426, 43490528], [43495895, 43496046], [43503258, 43503398], [43506045, 43506167], [43508518, 43508704], [43519208, 43519343], [43531673, 43531779], [43532682, 43532779], [43540297, 43540381], [43540811, 43540921], [43546735, 43546856], [43547616, 43547730], [43548567, 43548720], [43580761, 43580860], [43581467, 43581597], [43590043, 43590190], [43591820, 43591935], [43594190, 43594389], [43601413, 43601525]]
Promoter
Chrom Start End Description
chr7 43152152 43152168 CAGE_peak_6_at_HECW1_5end
chr7 43152170 43152180 CAGE_peak_12_at_HECW1_5end
chr7 43152191 43152211 CAGE_peak_5_at_HECW1_5end
chr7 43152212 43152263 CAGE_peak_1_at_HECW1_5end
chr7 43152282 43152291 CAGE_peak_14_at_HECW1_5end
chr7 43152322 43152325 CAGE_peak_21_at_HECW1_5end
chr7 43152375 43152384 CAGE_peak_13_at_HECW1_5end
chr7 43153309 43153331 CAGE_peak_11_at_HECW1_5end
chr7 43153336 43153356 CAGE_peak_10_at_HECW1_5end
chr7 43153596 43153608 CAGE_peak_2_at_HECW1_5end
chr7 43153683 43153694 CAGE_peak_9_at_HECW1_5end
chr7 43288717 43288757 CAGE_peak_3_at_HECW1_5end
chr7 43288941 43288960 CAGE_peak_4_at_HECW1_5end
chr7 43417422 43417435 CAGE_peak_16_at_HECW1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I042945 42945541 42946672 1.02 [{'connected_gene': 'C7orf25', 'score': 11.23}, {'connected_gene': 'HECW1', 'score': 10.85}, {'connected_gene': 'ENSG00000228680', 'score': 10.42}, {'connected_gene': 'MRPL32', 'score': 0.39}, {'connected_gene': 'LOC105375253', 'score': 0.39}, {'connected_gene': 'PSMA2', 'score': 0.39}]
chr7 GH07I043533 43533977 43537322 0.6 [{'connected_gene': 'BLVRA', 'score': 10.25}, {'connected_gene': 'LINC00957', 'score': 4.4}, {'connected_gene': 'LUARIS', 'score': 0.39}, {'connected_gene': 'STK17A', 'score': 0.25}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043439 43439882 43440051 0.69 [{'connected_gene': 'COA1', 'score': 10.28}, {'connected_gene': 'AEBP1', 'score': 4.57}, {'connected_gene': 'GC07P043445', 'score': 0.44}, {'connected_gene': 'LOC102724903', 'score': 0.12}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043454 43454801 43455407 0.67 [{'connected_gene': 'COA1', 'score': 10.21}, {'connected_gene': 'GC07P043445', 'score': 0.39}, {'connected_gene': 'LUARIS', 'score': 0.2}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043107 43107762 43109151 0.65 [{'connected_gene': 'POLM', 'score': 19.34}, {'connected_gene': 'ENSG00000228434', 'score': 12.91}, {'connected_gene': 'ENSG00000261019', 'score': 4.78}, {'connected_gene': 'HECW1', 'score': 0.77}, {'connected_gene': 'LOC105375254', 'score': 0.44}, {'connected_gene': 'ENSG00000201933', 'score': 0.39}]
chr7 GH07I043244 43244286 43244768 0.2 [{'connected_gene': 'HECW1', 'score': 6.41}, {'connected_gene': 'ENSG00000228680', 'score': 0.77}, {'connected_gene': 'GC07M043207', 'score': 0.28}, {'connected_gene': 'RNU6-575P', 'score': 0.28}]
chr7 GH07I043135 43135047 43135641 0.46 [{'connected_gene': 'HECW1', 'score': 11.53}, {'connected_gene': 'RNU7-35P', 'score': 11.27}, {'connected_gene': 'MIR3943', 'score': 0.37}, {'connected_gene': 'HECW1-IT1', 'score': 0.37}]
chr7 GH07I043073 43073402 43073477 0.31 [{'connected_gene': 'HECW1', 'score': 11.39}, {'connected_gene': 'HECW1-IT1', 'score': 11.37}, {'connected_gene': 'LOC105375254', 'score': 7.67}, {'connected_gene': 'GC07P043096', 'score': 0.34}, {'connected_gene': 'LOC105375253', 'score': 0.13}]
chr7 GH07I043077 43077025 43077190 0.2 [{'connected_gene': 'HECW1', 'score': 10.96}, {'connected_gene': 'HECW1-IT1', 'score': 10.95}, {'connected_gene': 'GC07P043096', 'score': 0.37}, {'connected_gene': 'LOC105375254', 'score': 0.28}, {'connected_gene': 'LOC105375253', 'score': 0.13}]
chr7 GH07I043078 43077355 43078511 0.95 [{'connected_gene': 'HECW1', 'score': 11.51}, {'connected_gene': 'HECW1-IT1', 'score': 11.49}, {'connected_gene': 'ENSG00000228680', 'score': 10.18}, {'connected_gene': 'LOC105375254', 'score': 5.12}, {'connected_gene': 'GC07P043096', 'score': 0.37}, {'connected_gene': 'LOC105375253', 'score': 0.13}]
chr7 GH07I043510 43510442 43514464 0.69 [{'connected_gene': 'YKT6', 'score': 4.34}, {'connected_gene': 'LUARIS', 'score': 0.39}, {'connected_gene': 'GC07P043445', 'score': 0.2}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043112 43112301 43114040 1.55 [{'connected_gene': 'LOC105375254', 'score': 562.96}, {'connected_gene': 'HECW1', 'score': 550.77}, {'connected_gene': 'AEBP1', 'score': 14.67}, {'connected_gene': 'GLI3', 'score': 12.45}, {'connected_gene': 'ENSG00000228434', 'score': 12.35}, {'connected_gene': 'SPDYE1', 'score': 12.24}, {'connected_gene': 'POLM', 'score': 10.23}]
chr7 GH07I043071 43071608 43073308 0.6 [{'connected_gene': 'LOC105375254', 'score': 14.21}, {'connected_gene': 'HECW1', 'score': 11.37}, {'connected_gene': 'HECW1-IT1', 'score': 11.36}, {'connected_gene': 'GC07P043096', 'score': 0.34}, {'connected_gene': 'LOC105375253', 'score': 0.13}]
chr7 GH07I043303 43303256 43303374 0.2 [{'connected_gene': 'LOC102724903', 'score': 550.77}, {'connected_gene': 'ENSG00000228680', 'score': 10.51}, {'connected_gene': 'HECW1', 'score': 10.36}, {'connected_gene': 'GC07P043445', 'score': 0.11}]
chr7 GH07I043295 43295522 43295677 0.31 [{'connected_gene': 'LOC102724903', 'score': 0.44}, {'connected_gene': 'GC07P043276', 'score': 0.37}, {'connected_gene': 'HECW1', 'score': 0.09}]
chr7 GH07I043301 43301610 43302970 0.49 [{'connected_gene': 'LOC102724903', 'score': 550.77}, {'connected_gene': 'ENSG00000228680', 'score': 10.51}, {'connected_gene': 'HECW1', 'score': 10.36}, {'connected_gene': 'GC07P043445', 'score': 0.11}]
chr7 GH07I043296 43296532 43297075 0.46 [{'connected_gene': 'LOC102724903', 'score': 0.77}, {'connected_gene': 'GC07P043276', 'score': 0.34}, {'connected_gene': 'HECW1', 'score': 0.09}]
chr7 GH07I043565 43565922 43566071 0.59 [{'connected_gene': 'LUARIS', 'score': 11.19}, {'connected_gene': 'BLVRA', 'score': 11.11}, {'connected_gene': 'COA1', 'score': 10.11}, {'connected_gene': 'STK17A', 'score': 0.37}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043553 43553687 43554791 0.88 [{'connected_gene': 'LUARIS', 'score': 12.03}, {'connected_gene': 'BLVRA', 'score': 10.53}, {'connected_gene': 'COA1', 'score': 7.61}, {'connected_gene': 'STK17A', 'score': 0.31}, {'connected_gene': 'HECW1', 'score': 0.04}]
chr7 GH07I043520 43520629 43521657 0.2 [{'connected_gene': 'LUARIS', 'score': 550.77}, {'connected_gene': 'BLVRA', 'score': 5.06}, {'connected_gene': 'RASA4CP', 'score': 4.81}, {'connected_gene': 'GC07P043445', 'score': 0.18}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043521 43521869 43523113 0.51 [{'connected_gene': 'LUARIS', 'score': 550.77}, {'connected_gene': 'BLVRA', 'score': 4.36}, {'connected_gene': 'GC07P043445', 'score': 0.18}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043492 43492144 43492781 0.46 [{'connected_gene': 'LUARIS', 'score': 11.26}, {'connected_gene': 'GC07P043445', 'score': 0.25}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043519 43519542 43520561 0.31 [{'connected_gene': 'LUARIS', 'score': 0.77}, {'connected_gene': 'GC07P043445', 'score': 0.19}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043517 43517022 43517171 0.97 [{'connected_gene': 'LUARIS', 'score': 0.44}, {'connected_gene': 'GC07P043445', 'score': 0.19}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043501 43501542 43502650 0.86 [{'connected_gene': 'LUARIS', 'score': 11.62}, {'connected_gene': 'GC07P043445', 'score': 0.22}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043487 43487022 43487171 0.84 [{'connected_gene': 'LUARIS', 'score': 0.28}, {'connected_gene': 'GC07P043445', 'score': 0.26}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043507 43507059 43507669 0.2 [{'connected_gene': 'LUARIS', 'score': 0.37}, {'connected_gene': 'GC07P043445', 'score': 0.21}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043509 43509730 43510387 0.2 [{'connected_gene': 'LUARIS', 'score': 0.39}, {'connected_gene': 'GC07P043445', 'score': 0.2}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043488 43488922 43489211 0.66 [{'connected_gene': 'LUARIS', 'score': 0.29}, {'connected_gene': 'GC07P043445', 'score': 0.26}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043460 43460368 43463124 0.8 [{'connected_gene': 'LUARIS', 'score': 10.93}, {'connected_gene': 'GC07P043445', 'score': 0.37}, {'connected_gene': 'HECW1', 'score': 0.05}]
chr7 GH07I043219 43219762 43220980 0.54 [{'connected_gene': 'RNU7-35P', 'score': 11.85}, {'connected_gene': 'ENSG00000228680', 'score': 11.28}, {'connected_gene': 'HECW1', 'score': 11.11}, {'connected_gene': 'GC07M043207', 'score': 0.39}, {'connected_gene': 'RNU6-575P', 'score': 0.39}]
chr7 GH07I043193 43193372 43194693 0.59 [{'connected_gene': 'RNU7-35P', 'score': 550.77}, {'connected_gene': 'GC07P043194', 'score': 550.77}, {'connected_gene': 'HECW1', 'score': 7.08}, {'connected_gene': 'GC07P043160', 'score': 0.29}]
chr7 GH07I043194 43193118 43193131 0.31 [{'connected_gene': 'RNU7-35P', 'score': 550.77}, {'connected_gene': 'GC07P043194', 'score': 550.77}, {'connected_gene': 'GC07P043160', 'score': 0.29}, {'connected_gene': 'HECW1', 'score': 0.18}]
chr7 GH07I043164 43164276 43165580 1.2 [{'connected_gene': 'RNU7-35P', 'score': 11.12}, {'connected_gene': 'RNU6-575P', 'score': 10.65}, {'connected_gene': 'GC07P043160', 'score': 0.44}, {'connected_gene': 'HECW1', 'score': 0.23}]
chr7 GH07I043261 43261342 43261531 0.72 [{'connected_gene': 'RNU7-35P', 'score': 10.27}, {'connected_gene': 'ENSG00000228680', 'score': 0.39}, {'connected_gene': 'RPL18AP10', 'score': 0.39}, {'connected_gene': 'HECW1', 'score': 0.11}]
chr7 GH07I043138 43138159 43142045 0.59 [{'connected_gene': 'HECW1-IT1', 'score': 11.53}, {'connected_gene': 'HECW1', 'score': 11.51}, {'connected_gene': 'RNU7-35P', 'score': 11.28}, {'connected_gene': 'RNU6-575P', 'score': 10.96}, {'connected_gene': 'ENSG00000228680', 'score': 10.44}, {'connected_gene': 'C7orf25', 'score': 5.08}, {'connected_gene': 'MIR3943', 'score': 0.39}]
chr7 GH07I043119 43119105 43120083 0.46 [{'connected_gene': 'HECW1-IT1', 'score': 550.77}, {'connected_gene': 'ENSG00000228680', 'score': 10.29}, {'connected_gene': 'RNU7-35P', 'score': 9.8}, {'connected_gene': 'HECW1', 'score': 0.44}, {'connected_gene': 'MIR3943', 'score': 0.29}]
chr7 GH07I043289 43289417 43292903 0.6 [{'connected_gene': 'ENSG00000228680', 'score': 11.55}, {'connected_gene': 'HECW1', 'score': 11.38}, {'connected_gene': 'LOC102724903', 'score': 0.39}, {'connected_gene': 'GC07P043276', 'score': 0.37}]
chr7 GH07I043293 43293871 43295225 0.56 [{'connected_gene': 'ENSG00000228680', 'score': 11.15}, {'connected_gene': 'HECW1', 'score': 10.99}, {'connected_gene': 'LOC102724903', 'score': 0.44}, {'connected_gene': 'GC07P043276', 'score': 0.37}]
chr7 GH07I043248 43248171 43251126 0.97 [{'connected_gene': 'ENSG00000228680', 'score': 550.77}, {'connected_gene': 'HECW1', 'score': 21.84}, {'connected_gene': 'RPL18AP10', 'score': 0.34}]
chr7 GH07I043202 43202042 43202191 0.2 [{'connected_gene': 'ENSG00000228680', 'score': 11.06}, {'connected_gene': 'HECW1', 'score': 10.98}, {'connected_gene': 'HECW1-IT1', 'score': 9.6}, {'connected_gene': 'GC07M043207', 'score': 0.44}, {'connected_gene': 'RNU6-575P', 'score': 0.44}, {'connected_gene': 'GC07P043194', 'score': 0.44}]
chr7 GH07I043210 43210982 43212144 0.43 [{'connected_gene': 'GC07M043207', 'score': 0.77}, {'connected_gene': 'RNU6-575P', 'score': 0.77}, {'connected_gene': 'ENSG00000228680', 'score': 0.28}, {'connected_gene': 'HECW1', 'score': 0.15}]
chr7 GH07I043207 43207862 43209247 0.2 [{'connected_gene': 'GC07M043207', 'score': 550.77}, {'connected_gene': 'RNU6-575P', 'score': 550.77}, {'connected_gene': 'ENSG00000228680', 'score': 0.26}, {'connected_gene': 'HECW1', 'score': 0.15}]
chr7 GH07I043395 43395519 43395863 0.31 [{'connected_gene': 'GC07P043445', 'score': 0.25}, {'connected_gene': 'LOC102724903', 'score': 0.16}, {'connected_gene': 'HECW1', 'score': 0.06}]
chr7 GH07I043391 43391642 43391778 0.38 [{'connected_gene': 'GC07P043445', 'score': 0.23}, {'connected_gene': 'LOC102724903', 'score': 0.16}, {'connected_gene': 'HECW1', 'score': 0.06}]
chr7 GH07I043396 43396022 43396964 0.31 [{'connected_gene': 'GC07P043445', 'score': 0.25}, {'connected_gene': 'LOC102724903', 'score': 0.15}, {'connected_gene': 'HECW1', 'score': 0.06}]

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