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
ENST00000494598 [[155093368, 155093578], [155203144, 155203499], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314167], [155393785, 155394205]] [[155093471, 155093578], [155203144, 155203499], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314167], [155393785, 155393828]]
ENST00000460012 [[155197669, 155200840], [155203144, 155203499], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314167], [155421934, 155422053], [155462628, 155462856]] [[155198756, 155200840], [155203144, 155203499], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314156]]
ENST00000447496 [[155197670, 155200840], [155201137, 155201165], [155203144, 155203499], [155203935, 155203995], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314167], [155393785, 155393828]] [[155201154, 155201165], [155203144, 155203499], [155203935, 155203995], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314167], [155393785, 155393828]]
ENST00000340059 [[155197670, 155200840], [155203144, 155203499], [155203935, 155203995], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314167], [155393785, 155393828]] [[155198756, 155200840], [155203144, 155203499], [155203935, 155203995], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314167], [155393785, 155393828]]
ENST00000414191 [[155197670, 155200840], [155203144, 155203499], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314167], [155393785, 155394105]] [[155198756, 155200840], [155203144, 155203499], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314156]]
ENST00000334686 [[155197670, 155200840], [155203144, 155203499], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314167], [155421934, 155421997]] [[155198756, 155200840], [155203144, 155203499], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314156]]
ENST00000469040 [[155208530, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222361]] None
NM_001130961 [[155197670, 155200840], [155201137, 155201165], [155203144, 155203499], [155203935, 155203995], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314167], [155393785, 155394105]] [[155201154, 155201165], [155203144, 155203499], [155203935, 155203995], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314167], [155393785, 155393828]]
NM_001130960 [[155197670, 155200840], [155203144, 155203499], [155203935, 155203995], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314167], [155393785, 155394105]] [[155198756, 155200840], [155203144, 155203499], [155203935, 155203995], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314167], [155393785, 155393828]]
NM_014996 [[155197670, 155200840], [155203144, 155203499], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314167], [155421934, 155421997]] [[155198756, 155200840], [155203144, 155203499], [155205816, 155205896], [155206448, 155206595], [155208572, 155208657], [155210517, 155210642], [155211929, 155212037], [155212126, 155212306], [155215108, 155215206], [155218491, 155218583], [155222343, 155222415], [155232511, 155232673], [155241685, 155241793], [155267575, 155267747], [155271864, 155271985], [155282703, 155282907], [155286019, 155286113], [155301260, 155301431], [155303853, 155303983], [155311729, 155311973], [155314020, 155314156]]
Promoter
Chrom Start End Description
chr3 155203375 155203401 CAGE_peak_5_at_PLCH1_5end
chr3 155394099 155394110 CAGE_peak_3_at_PLCH1_5end
chr3 155394118 155394139 CAGE_peak_2_at_PLCH1_5end
chr3 155394152 155394163 CAGE_peak_4_at_PLCH1_5end
chr3 155462808 155462883 CAGE_peak_1_at_PLCH1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I155888 155888801 155891518 1.1 [{'connected_gene': 'SLC33A1', 'score': 12.09}, {'connected_gene': 'ENSG00000214919', 'score': 10.34}, {'connected_gene': 'PLCH1', 'score': 10.34}, {'connected_gene': 'GMPS', 'score': 6.25}, {'connected_gene': 'C3orf33', 'score': 6.04}, {'connected_gene': 'SETP14', 'score': 0.15}]
chr3 GH03I155714 155714392 155714541 0.79 [{'connected_gene': 'SLC33A1', 'score': 4.26}, {'connected_gene': 'ENSG00000214919', 'score': 0.31}, {'connected_gene': 'PLCH1', 'score': 0.29}, {'connected_gene': 'PIR36771', 'score': 0.23}]
chr3 GH03I155862 155862112 155863391 1.09 [{'connected_gene': 'GMPS', 'score': 14.26}, {'connected_gene': 'SLC33A1', 'score': 10.92}, {'connected_gene': 'PLCH1', 'score': 5.32}, {'connected_gene': 'LOC105374174', 'score': 0.44}]
chr3 GH03I155869 155869373 155873196 2.02 [{'connected_gene': 'GMPS', 'score': 556.06}, {'connected_gene': 'C3orf33', 'score': 9.41}, {'connected_gene': 'PLCH1', 'score': 4.1}, {'connected_gene': 'SETP14', 'score': 0.13}]
chr3 GH03I154931 154931249 154932262 0.2 [{'connected_gene': 'MME', 'score': 10.51}, {'connected_gene': 'PLCH1', 'score': 4.31}, {'connected_gene': 'LOC105374171', 'score': 0.28}, {'connected_gene': 'LOC105374170', 'score': 0.26}]
chr3 GH03I155605 155605184 155606435 0.9 [{'connected_gene': 'SETP14', 'score': 4.95}, {'connected_gene': 'GC03P155638', 'score': 0.29}, {'connected_gene': 'GC03M155496', 'score': 0.14}, {'connected_gene': 'PLCH1', 'score': 0.12}]
chr3 GH03I155804 155804492 155806901 2 [{'connected_gene': 'C3orf33', 'score': 559.53}, {'connected_gene': 'PLCH1', 'score': 5.93}, {'connected_gene': 'SLC33A1', 'score': 5.08}, {'connected_gene': 'RPL7AP24', 'score': 0.25}]
chr3 GH03I155747 155747598 155747761 0.38 [{'connected_gene': 'C3orf33', 'score': 11.7}, {'connected_gene': 'PLCH1', 'score': 0.77}, {'connected_gene': 'RPL7AP24', 'score': 0.39}]
chr3 GH03I155748 155747432 155747581 0.31 [{'connected_gene': 'C3orf33', 'score': 11.7}, {'connected_gene': 'PLCH1', 'score': 0.77}, {'connected_gene': 'RPL7AP24', 'score': 0.39}]
chr3 GH03I155704 155704103 155705474 0.88 [{'connected_gene': 'PLCH1', 'score': 567.52}, {'connected_gene': 'ENSG00000214919', 'score': 11.23}, {'connected_gene': 'SLC33A1', 'score': 4.44}, {'connected_gene': 'PIR36771', 'score': 0.26}]
chr3 GH03I155663 155663312 155667614 0.96 [{'connected_gene': 'PLCH1', 'score': 21.26}, {'connected_gene': 'ENSG00000214919', 'score': 9.78}, {'connected_gene': 'PLCH1-AS2', 'score': 9.67}, {'connected_gene': 'SLC33A1', 'score': 4.77}, {'connected_gene': 'PIR36771', 'score': 0.77}]
chr3 GH03I155645 155645761 155647435 0.72 [{'connected_gene': 'PLCH1', 'score': 5.36}, {'connected_gene': 'GC03P155638', 'score': 0.44}, {'connected_gene': 'RPL6P7', 'score': 0.39}]
chr3 GH03I155619 155619165 155619813 0.31 [{'connected_gene': 'PLCH1', 'score': 5.46}, {'connected_gene': 'GC03P155638', 'score': 0.37}, {'connected_gene': 'GC03M155496', 'score': 0.13}]
chr3 GH03I155736 155736598 155739124 0.95 [{'connected_gene': 'PLCH1', 'score': 9.87}, {'connected_gene': 'ENSG00000214919', 'score': 0.44}, {'connected_gene': 'PIR36771', 'score': 0.18}]
chr3 GH03I154884 154884622 154887772 0.69 [{'connected_gene': 'LOC105374170', 'score': 550.77}, {'connected_gene': 'PLCH1', 'score': 4.04}, {'connected_gene': 'ENSG00000243969', 'score': 0.31}]
chr3 GH03I155512 155512001 155513793 0.4 [{'connected_gene': 'PLCH1-AS2', 'score': 11.28}, {'connected_gene': 'PLCH1-AS1', 'score': 11.25}, {'connected_gene': 'GC03M155496', 'score': 0.37}, {'connected_gene': 'GC03P155638', 'score': 0.13}, {'connected_gene': 'PLCH1', 'score': 0.07}]
chr3 GH03I155598 155598652 155598952 0.44 [{'connected_gene': 'PLCH1-AS1', 'score': 11.46}, {'connected_gene': 'GC03P155638', 'score': 0.28}, {'connected_gene': 'GC03M155496', 'score': 0.15}, {'connected_gene': 'PLCH1', 'score': 0.11}]
chr3 GH03I155581 155581601 155582000 0.43 [{'connected_gene': 'PLCH1-AS1', 'score': 10.9}, {'connected_gene': 'PLCH1-AS2', 'score': 9.99}, {'connected_gene': 'SLC33A1', 'score': 5.86}, {'connected_gene': 'PLCH1', 'score': 5.45}, {'connected_gene': 'GC03P155638', 'score': 0.22}, {'connected_gene': 'GC03M155496', 'score': 0.18}]
chr3 GH03I155553 155553340 155556704 0.99 [{'connected_gene': 'PLCH1-AS1', 'score': 10.07}, {'connected_gene': 'PLCH1-AS2', 'score': 10.03}, {'connected_gene': 'PLCH1', 'score': 5.47}, {'connected_gene': 'GC03M155496', 'score': 0.22}, {'connected_gene': 'GC03P155638', 'score': 0.18}]
chr3 GH03I155424 155424452 155424601 0.2 [{'connected_gene': 'PLCH1-AS1', 'score': 11.92}, {'connected_gene': 'ENSG00000242152', 'score': 0.44}, {'connected_gene': 'LOC100419750', 'score': 0.34}, {'connected_gene': 'PLCH1', 'score': 0.05}]
chr3 GH03I155425 155424032 155424181 0.2 [{'connected_gene': 'PLCH1-AS1', 'score': 11.89}, {'connected_gene': 'ENSG00000242152', 'score': 0.44}, {'connected_gene': 'LOC100419750', 'score': 0.34}, {'connected_gene': 'PLCH1', 'score': 0.05}]
chr3 GH03I155428 155428732 155428881 0.2 [{'connected_gene': 'PLCH1-AS1', 'score': 12.14}, {'connected_gene': 'ENSG00000242152', 'score': 0.77}, {'connected_gene': 'LOC100419750', 'score': 0.31}, {'connected_gene': 'PLCH1', 'score': 0.06}]
chr3 GH03I155390 155390382 155392573 0.66 [{'connected_gene': 'PLCH1-AS1', 'score': 11.22}, {'connected_gene': 'LOC100419750', 'score': 0.39}, {'connected_gene': 'ENSG00000248772', 'score': 0.37}, {'connected_gene': 'PLCH1', 'score': 0.05}]
chr3 GH03I155416 155416466 155417494 0.59 [{'connected_gene': 'LOC100419750', 'score': 0.39}, {'connected_gene': 'ENSG00000242152', 'score': 0.37}, {'connected_gene': 'PLCH1', 'score': 0.05}]
chr3 GH03I155676 155676056 155676802 1.06 [{'connected_gene': 'ENSG00000214919', 'score': 9.83}, {'connected_gene': 'PLCH1', 'score': 9.83}, {'connected_gene': 'SLC33A1', 'score': 5.08}, {'connected_gene': 'PIR36771', 'score': 0.37}]
chr3 GH03I155743 155743654 155747256 1.87 [{'connected_gene': 'ENSG00000214919', 'score': 550.77}, {'connected_gene': 'PLCH1', 'score': 550.77}, {'connected_gene': 'C3orf33', 'score': 11.69}, {'connected_gene': 'SLC33A1', 'score': 6.03}, {'connected_gene': 'RPL7AP24', 'score': 0.37}]
chr3 GH03I155327 155327532 155327681 0.38 [{'connected_gene': 'ENSG00000214919', 'score': 9.88}, {'connected_gene': 'PLCH1', 'score': 9.88}, {'connected_gene': 'LOC105374172', 'score': 0.39}, {'connected_gene': 'ENSG00000248772', 'score': 0.25}]
chr3 GH03I155334 155334012 155336660 0.95 [{'connected_gene': 'ENSG00000214919', 'score': 9.62}, {'connected_gene': 'PLCH1', 'score': 9.62}, {'connected_gene': 'LOC105374172', 'score': 0.37}, {'connected_gene': 'ENSG00000248772', 'score': 0.26}]
chr3 GH03I155661 155661029 155662441 0.31 [{'connected_gene': 'PIR36771', 'score': 550.77}, {'connected_gene': 'PLCH1', 'score': 21.21}, {'connected_gene': 'PLCH1-AS1', 'score': 10.2}, {'connected_gene': 'PLCH1-AS2', 'score': 10.16}, {'connected_gene': 'ENSG00000214919', 'score': 9.79}, {'connected_gene': 'SLC33A1', 'score': 5.07}]
chr3 GH03I155497 155497403 155499196 0.56 [{'connected_gene': 'GC03M155496', 'score': 550.77}, {'connected_gene': 'GC03P155638', 'score': 0.11}, {'connected_gene': 'PLCH1', 'score': 0.07}]
chr3 GH03I155594 155594308 155595999 0.71 [{'connected_gene': 'GC03P155638', 'score': 0.26}, {'connected_gene': 'GC03M155496', 'score': 0.15}, {'connected_gene': 'PLCH1', 'score': 0.11}]

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