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
ENST00000401783 [[113127530, 113128840], [113132202, 113132296], [113137647, 113137743], [113139550, 113139646], [113141626, 113141797], [113148177, 113148354], [113149564, 113149738], [113151803, 113151867], [113163133, 113163289], [113166606, 113166832], [113168439, 113171231], [113173342, 113174015], [113189870, 113190038], [113191422, 113191614], [113192199, 113192284], [113192553, 113192730], [113194194, 113194314], [113194741, 113194915], [113196615, 113196786], [113197520, 113197644], [113198659, 113198784], [113205824, 113206000], [113208116, 113208318], [113209179, 113209337], [113212338, 113212540], [113213568, 113213682], [113217869, 113217983], [113219535, 113219632], [113220750, 113220842], [113221231, 113221393], [113228144, 113228306], [113231219, 113231381], [113233643, 113233877], [113234438, 113234603], [113238483, 113238595], [113241914, 113242036], [113243521, 113243716], [113244640, 113244772], [113245865, 113245973], [113251929, 113252059], [113259094, 113259213], [113261320, 113261518], [113265317, 113265497], [113275205, 113275385], [113276227, 113276386], [113308394, 113308571], [113312128, 113312384], [113341292, 113342160]] [[113128818, 113128840], [113132202, 113132296], [113137647, 113137743], [113139550, 113139646], [113141626, 113141797], [113148177, 113148354], [113149564, 113149738], [113151803, 113151867], [113163133, 113163289], [113166606, 113166832], [113168439, 113171231], [113173342, 113174015], [113189870, 113190038], [113191422, 113191614], [113192199, 113192284], [113192553, 113192730], [113194194, 113194314], [113194741, 113194915], [113196615, 113196786], [113197520, 113197644], [113198659, 113198784], [113205824, 113206000], [113208116, 113208318], [113209179, 113209337], [113212338, 113212540], [113213568, 113213682], [113217869, 113217983], [113219535, 113219632], [113220750, 113220842], [113221231, 113221393], [113228144, 113228306], [113231219, 113231381], [113233643, 113233877], [113234438, 113234603], [113238483, 113238595], [113241914, 113242036], [113243521, 113243716], [113244640, 113244772], [113245865, 113245973], [113251929, 113252059], [113259094, 113259213], [113261320, 113261518], [113265317, 113265497], [113275205, 113275385], [113276227, 113276386], [113308394, 113308571], [113312128, 113312384], [113341292, 113341823]]
ENST00000374469 [[113127535, 113128840], [113132202, 113132296], [113137647, 113137743], [113139550, 113139646], [113141626, 113141797], [113148177, 113148354], [113149564, 113149738], [113151803, 113151867], [113163133, 113163289], [113166606, 113166832], [113168439, 113171231], [113173342, 113174015], [113189870, 113190038], [113191422, 113191614], [113192199, 113192284], [113192553, 113192730], [113194194, 113194314], [113194741, 113194915], [113196615, 113196786], [113197520, 113197644], [113198659, 113198784], [113205824, 113206000], [113208116, 113208318], [113209179, 113209337], [113212338, 113212540], [113213568, 113213682], [113217869, 113217983], [113219535, 113219632], [113220750, 113220842], [113221231, 113221393], [113228144, 113228306], [113231219, 113231381], [113233643, 113233877], [113234438, 113234603], [113238483, 113238595], [113241914, 113242036], [113243521, 113243716], [113244640, 113244772], [113245865, 113245973], [113251929, 113252059], [113259094, 113259213], [113261320, 113261518], [113265317, 113265497], [113275205, 113275385], [113276227, 113276386], [113308394, 113308571], [113312128, 113312384], [113341292, 113342018]] [[113128818, 113128840], [113132202, 113132296], [113137647, 113137743], [113139550, 113139646], [113141626, 113141797], [113148177, 113148354], [113149564, 113149738], [113151803, 113151867], [113163133, 113163289], [113166606, 113166832], [113168439, 113171231], [113173342, 113174015], [113189870, 113190038], [113191422, 113191614], [113192199, 113192284], [113192553, 113192730], [113194194, 113194314], [113194741, 113194915], [113196615, 113196786], [113197520, 113197644], [113198659, 113198784], [113205824, 113206000], [113208116, 113208318], [113209179, 113209337], [113212338, 113212540], [113213568, 113213682], [113217869, 113217983], [113219535, 113219632], [113220750, 113220842], [113221231, 113221393], [113228144, 113228306], [113231219, 113231381], [113233643, 113233877], [113234438, 113234603], [113238483, 113238595], [113241914, 113242036], [113243521, 113243716], [113244640, 113244772], [113245865, 113245973], [113251929, 113252059], [113259094, 113259213], [113261320, 113261518], [113265317, 113265497], [113275205, 113275385], [113276227, 113276386], [113308394, 113308571], [113312128, 113312384], [113341292, 113341754]]
ENST00000467821 [[113204758, 113206000], [113208116, 113208318], [113209179, 113209337], [113212338, 113212540], [113213568, 113213682], [113217869, 113217983], [113219535, 113219632], [113220750, 113220842], [113221231, 113221393], [113228144, 113228306], [113231219, 113231381], [113233643, 113233877], [113234438, 113234603], [113238483, 113238595], [113241914, 113242036], [113243521, 113243716], [113244640, 113244772], [113245865, 113245973], [113251929, 113252059], [113259094, 113259213], [113261320, 113261518], [113265317, 113265497], [113275205, 113275385], [113276227, 113276386], [113308394, 113308571], [113312128, 113312334]] None
ENST00000302728 [[113204758, 113206000], [113208116, 113208318], [113209179, 113209337], [113212338, 113212540], [113213568, 113213682], [113217869, 113217983], [113219535, 113219632], [113220394, 113220399], [113220755, 113220842], [113221231, 113221393], [113228144, 113228306], [113231219, 113231381], [113233643, 113233877], [113234438, 113234603], [113238483, 113238595], [113241914, 113242036], [113243521, 113243716], [113244640, 113244772], [113245865, 113245973], [113251929, 113252059], [113259094, 113259213], [113261320, 113261518], [113265317, 113265497], [113275205, 113275385], [113276227, 113276386], [113308394, 113308571], [113312128, 113312384], [113341292, 113341823]] [[113205813, 113206000], [113208116, 113208318], [113209179, 113209337], [113212338, 113212540], [113213568, 113213682], [113217869, 113217983], [113219535, 113219632], [113220394, 113220399], [113220755, 113220842], [113221231, 113221393], [113228144, 113228306], [113231219, 113231381], [113233643, 113233877], [113234438, 113234603], [113238483, 113238595], [113241914, 113242036], [113243521, 113243716], [113244640, 113244772], [113245865, 113245973], [113251929, 113252059], [113259094, 113259213], [113261320, 113261518], [113265317, 113265497], [113275205, 113275385], [113276227, 113276386], [113308394, 113308571], [113312128, 113312384], [113341292, 113341823]]
ENST00000374461 [[113238162, 113238595], [113241914, 113242036], [113243521, 113243716], [113244640, 113244772], [113245865, 113245973], [113251929, 113252059], [113259094, 113259213], [113261320, 113261518], [113265317, 113265497], [113275205, 113275385], [113276227, 113276386], [113308394, 113308571], [113312128, 113312384], [113341292, 113342160]] [[113238475, 113238595], [113241914, 113242036], [113243521, 113243716], [113244640, 113244772], [113245865, 113245973], [113251929, 113252059], [113259094, 113259213], [113261320, 113261518], [113265317, 113265497], [113275205, 113275385], [113276227, 113276386], [113308394, 113308571], [113312128, 113312384], [113341292, 113341754]]
ENST00000297826 [[113127535, 113128840], [113132202, 113132296], [113137647, 113137743], [113139550, 113139646], [113141626, 113141797], [113148177, 113148354], [113149564, 113149738], [113151803, 113151867], [113163133, 113163289], [113166606, 113166832], [113168439, 113171231], [113173342, 113174015], [113189870, 113190038]] [[113128818, 113128840], [113132202, 113132296], [113137647, 113137743], [113139550, 113139646], [113141626, 113141797], [113148177, 113148354], [113149564, 113149738], [113151803, 113151867], [113163133, 113163289], [113166606, 113166832], [113168439, 113171231], [113173342, 113173768]]
ENST00000476205 [[113139090, 113139646], [113141626, 113141658]] None
NM_153366 [[113127527, 113128840], [113132202, 113132296], [113137647, 113137743], [113139550, 113139646], [113141626, 113141797], [113148177, 113148354], [113149564, 113149738], [113151803, 113151867], [113163133, 113163289], [113166606, 113166832], [113168439, 113171231], [113173342, 113174015], [113189870, 113190038], [113191422, 113191614], [113192199, 113192284], [113192553, 113192730], [113194194, 113194314], [113194741, 113194915], [113196615, 113196786], [113197520, 113197644], [113198659, 113198784], [113205824, 113206000], [113208116, 113208318], [113209179, 113209337], [113212338, 113212540], [113213568, 113213682], [113217869, 113217983], [113219535, 113219632], [113220750, 113220842], [113221231, 113221393], [113228144, 113228306], [113231219, 113231381], [113233643, 113233877], [113234438, 113234603], [113238483, 113238595], [113241914, 113242036], [113243521, 113243716], [113244640, 113244772], [113245865, 113245973], [113251929, 113252059], [113259094, 113259213], [113261320, 113261518], [113265317, 113265497], [113275205, 113275385], [113276227, 113276386], [113308394, 113308571], [113312128, 113312384], [113341292, 113342160]] [[113128818, 113128840], [113132202, 113132296], [113137647, 113137743], [113139550, 113139646], [113141626, 113141797], [113148177, 113148354], [113149564, 113149738], [113151803, 113151867], [113163133, 113163289], [113166606, 113166832], [113168439, 113171231], [113173342, 113174015], [113189870, 113190038], [113191422, 113191614], [113192199, 113192284], [113192553, 113192730], [113194194, 113194314], [113194741, 113194915], [113196615, 113196786], [113197520, 113197644], [113198659, 113198784], [113205824, 113206000], [113208116, 113208318], [113209179, 113209337], [113212338, 113212540], [113213568, 113213682], [113217869, 113217983], [113219535, 113219632], [113220750, 113220842], [113221231, 113221393], [113228144, 113228306], [113231219, 113231381], [113233643, 113233877], [113234438, 113234603], [113238483, 113238595], [113241914, 113242036], [113243521, 113243716], [113244640, 113244772], [113245865, 113245973], [113251929, 113252059], [113259094, 113259213], [113261320, 113261518], [113265317, 113265497], [113275205, 113275385], [113276227, 113276386], [113308394, 113308571], [113312128, 113312384], [113341292, 113341823]]
Promoter
Chrom Start End Description
chr9 113341481 113341510 CAGE_peak_8_at_SVEP1_5end
chr9 113341836 113341899 CAGE_peak_2_at_SVEP1_5end
chr9 113341957 113341974 CAGE_peak_6_at_SVEP1_5end
chr9 113341985 113342040 CAGE_peak_1_at_SVEP1_5end
chr9 113342041 113342046 CAGE_peak_13_at_SVEP1_5end
chr9 113342091 113342113 CAGE_peak_5_at_SVEP1_5end
chr9 113342185 113342214 CAGE_peak_3_at_SVEP1_5end
chr9 113342266 113342273 CAGE_peak_12_at_SVEP1_5end
chr9 113342280 113342302 CAGE_peak_7_at_SVEP1_5end
chr9 113342305 113342325 CAGE_peak_9_at_SVEP1_5end
chr9 113342332 113342358 CAGE_peak_4_at_SVEP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I110433 110433361 110433488 0.37 [{'connected_gene': 'SVEP1', 'score': 3.48}, {'connected_gene': 'RNU6-1039P', 'score': 0.21}, {'connected_gene': 'GC09M110370', 'score': 0.21}, {'connected_gene': 'GC09M110541', 'score': 0.14}]
chr9 GH09I110430 110430420 110433076 0.72 [{'connected_gene': 'SVEP1', 'score': 5.91}, {'connected_gene': 'RNU6-1039P', 'score': 0.21}, {'connected_gene': 'GC09M110370', 'score': 0.21}, {'connected_gene': 'GC09M110541', 'score': 0.14}]
chr9 GH09I110443 110443219 110444714 0.88 [{'connected_gene': 'SVEP1', 'score': 6.11}, {'connected_gene': 'RNU6-1039P', 'score': 0.19}, {'connected_gene': 'GC09M110370', 'score': 0.19}, {'connected_gene': 'GC09M110541', 'score': 0.15}]
chr9 GH09I110554 110554433 110556790 0.89 [{'connected_gene': 'SVEP1', 'score': 11.51}, {'connected_gene': 'GC09M110541', 'score': 0.37}, {'connected_gene': 'GC09P110579', 'score': 0.34}]
chr9 GH09I110590 110590395 110592813 0.46 [{'connected_gene': 'MUSK', 'score': 6.2}, {'connected_gene': 'ENSG00000232896', 'score': 0.44}, {'connected_gene': 'SVEP1', 'score': 0.39}]
chr9 GH09I110571 110571145 110572717 0.31 [{'connected_gene': 'MUSK', 'score': 6.6}, {'connected_gene': 'GC09P110579', 'score': 0.44}, {'connected_gene': 'SVEP1', 'score': 0.44}, {'connected_gene': 'GC09M110541', 'score': 0.29}]
chr9 GH09I111033 111033422 111039897 2.27 [{'connected_gene': 'LPAR1', 'score': 555.81}, {'connected_gene': 'SVEP1', 'score': 12.25}, {'connected_gene': 'PTGR1', 'score': 4.33}, {'connected_gene': 'ENSG00000207401', 'score': 0.15}]
chr9 GH09I110536 110536901 110537070 0.78 [{'connected_gene': 'ZNF483', 'score': 13.58}, {'connected_gene': 'GC09M110541', 'score': 0.77}, {'connected_gene': 'SVEP1', 'score': 0.26}, {'connected_gene': 'RNU6-1039P', 'score': 0.1}, {'connected_gene': 'GC09M110370', 'score': 0.1}]
chr9 GH09I111407 111407629 111408272 0.31 [{'connected_gene': 'ZNF483', 'score': 6.12}, {'connected_gene': 'SVEP1', 'score': 4.93}, {'connected_gene': 'RNA5SP294', 'score': 0.77}, {'connected_gene': 'PIR34688', 'score': 0.19}, {'connected_gene': 'ECPAS', 'score': 0.18}]
chr9 GH09I110429 110429096 110430335 0.38 [{'connected_gene': 'RNU6-1039P', 'score': 10.59}, {'connected_gene': 'SVEP1', 'score': 6.8}, {'connected_gene': 'GC09M110370', 'score': 0.21}, {'connected_gene': 'GC09M110541', 'score': 0.14}]
chr9 GH09I110451 110451781 110451930 0.31 [{'connected_gene': 'RNU6-1039P', 'score': 0.18}, {'connected_gene': 'GC09M110370', 'score': 0.18}, {'connected_gene': 'GC09M110541', 'score': 0.17}, {'connected_gene': 'SVEP1', 'score': 0.13}]
chr9 GH09I110371 110371561 110371710 0.97 [{'connected_gene': 'RNU6-1039P', 'score': 550.77}, {'connected_gene': 'GC09M110370', 'score': 550.77}, {'connected_gene': 'GC09M110541', 'score': 0.1}, {'connected_gene': 'SVEP1', 'score': 0.08}]
chr9 GH09I110444 110444955 110445397 0.51 [{'connected_gene': 'RNU6-1039P', 'score': 0.18}, {'connected_gene': 'GC09M110370', 'score': 0.18}, {'connected_gene': 'GC09M110541', 'score': 0.16}, {'connected_gene': 'SVEP1', 'score': 0.12}]
chr9 GH09I110440 110440217 110440869 0.51 [{'connected_gene': 'RNU6-1039P', 'score': 0.19}, {'connected_gene': 'GC09M110370', 'score': 0.19}, {'connected_gene': 'GC09M110541', 'score': 0.15}, {'connected_gene': 'SVEP1', 'score': 0.12}]
chr9 GH09I110578 110578185 110582681 1.78 [{'connected_gene': 'GC09P110579', 'score': 550.77}, {'connected_gene': 'SVEP1', 'score': 550.77}, {'connected_gene': 'MUSK', 'score': 5.69}, {'connected_gene': 'ENSG00000232896', 'score': 0.37}]
chr9 GH09I110537 110537850 110539387 0.54 [{'connected_gene': 'GC09M110541', 'score': 550.77}, {'connected_gene': 'SVEP1', 'score': 0.26}, {'connected_gene': 'RNU6-1039P', 'score': 0.1}, {'connected_gene': 'GC09M110370', 'score': 0.1}]
chr9 GH09I110520 110520181 110520390 0.31 [{'connected_gene': 'GC09M110541', 'score': 0.37}, {'connected_gene': 'SVEP1', 'score': 0.22}, {'connected_gene': 'RNU6-1039P', 'score': 0.1}, {'connected_gene': 'GC09M110370', 'score': 0.1}]
chr9 GH09I110599 110599123 110599708 0.38 [{'connected_gene': 'ENSG00000232896', 'score': 550.77}, {'connected_gene': 'SVEP1', 'score': 0.37}]
chr9 GH09I110570 110570976 110570997 0.33 [{'connected_gene': 'GC09P110579', 'score': 0.44}, {'connected_gene': 'SVEP1', 'score': 0.44}, {'connected_gene': 'GC09M110541', 'score': 0.29}]

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