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
ENST00000327697 [[49726931, 49727039], [49728562, 49728680], [49728857, 49728942], [49734575, 49734655], [49734795, 49734890], [49735317, 49735372], [49735484, 49735570], [49735872, 49735959], [49736187, 49736255], [49736412, 49736538], [49736900, 49737015], [49737100, 49737205], [49737659, 49737785], [49737904, 49737997], [49738068, 49738142], [49738923, 49739041], [49739243, 49739343], [49739515, 49739577], [49739766, 49739838], [49740065, 49740186], [49740859, 49740961], [49742082, 49742189], [49742416, 49742615], [49742966, 49743112], [49743414, 49743498], [49744223, 49744331], [49749911, 49750089], [49750945, 49751020], [49751170, 49751258], [49751342, 49751430], [49751522, 49751607], [49753007, 49753147], [49753254, 49753443], [49753534, 49753610], [49753825, 49753910], [49757943, 49758086], [49758232, 49758327], [49758452, 49758538], [49758617, 49758960]] [[49728598, 49728680], [49728857, 49728942], [49734575, 49734655], [49734795, 49734890], [49735317, 49735372], [49735484, 49735570], [49735872, 49735959], [49736187, 49736255], [49736412, 49736538], [49736900, 49737015], [49737100, 49737205], [49737659, 49737785], [49737904, 49737997], [49738068, 49738142], [49738923, 49739041], [49739243, 49739343], [49739515, 49739577], [49739766, 49739838], [49740065, 49740186], [49740859, 49740961], [49742082, 49742189], [49742416, 49742615], [49742966, 49743112], [49743414, 49743498], [49744223, 49744331], [49749911, 49750089], [49750945, 49751020], [49751170, 49751258], [49751342, 49751430], [49751522, 49751607], [49753007, 49753147], [49753254, 49753443], [49753534, 49753610], [49753825, 49753910], [49757943, 49758086], [49758232, 49758327], [49758452, 49758538], [49758617, 49758738]]
ENST00000432042 [[49726970, 49727039], [49734795, 49734890], [49735317, 49735372], [49735484, 49735570], [49735872, 49735959], [49736187, 49736255], [49736412, 49736538], [49736900, 49737015], [49737100, 49737205], [49737659, 49737785], [49737904, 49737997], [49738068, 49738142], [49738923, 49739041], [49739243, 49739343], [49739515, 49739577], [49739766, 49739838], [49740065, 49740186], [49740859, 49740961], [49742082, 49742189], [49742416, 49742615], [49742966, 49743112], [49743414, 49743498], [49744223, 49744331], [49749911, 49750263]] [[49735525, 49735570], [49735872, 49735959], [49736187, 49736255], [49736412, 49736538], [49736900, 49737015], [49737100, 49737205], [49737659, 49737785], [49737904, 49737997], [49738068, 49738142], [49738923, 49739041], [49739243, 49739343], [49739515, 49739577], [49739766, 49739838], [49740065, 49740186], [49740859, 49740961], [49742082, 49742189], [49742416, 49742615], [49742966, 49743112], [49743414, 49743498], [49744223, 49744331], [49749911, 49750142]]
ENST00000457726 [[49726976, 49727039], [49728562, 49728680], [49728857, 49728942], [49734575, 49734655], [49734795, 49734890], [49735317, 49735372], [49735484, 49735570], [49735872, 49735959], [49736187, 49736255], [49736412, 49736538], [49736900, 49737015], [49737100, 49737205], [49737659, 49737785], [49737904, 49737997], [49738068, 49738142], [49738923, 49739041], [49739243, 49739343], [49739515, 49739577], [49739766, 49739838], [49740065, 49740186], [49740859, 49740961], [49742082, 49742189], [49742416, 49742619], [49742966, 49743112], [49743414, 49743498], [49744223, 49744331], [49749911, 49750325], [49750945, 49751020], [49751170, 49751258], [49751342, 49751430], [49751522, 49751607], [49753007, 49753147], [49753254, 49753443], [49753534, 49753610], [49753825, 49753910], [49757943, 49758086], [49758232, 49758327], [49758452, 49758538], [49758617, 49758960]] [[49728598, 49728680], [49728857, 49728942], [49734575, 49734655], [49734795, 49734890], [49735317, 49735372], [49735484, 49735570], [49735872, 49735959], [49736187, 49736255], [49736412, 49736538], [49736900, 49737015], [49737100, 49737205], [49737659, 49737785], [49737904, 49737997], [49738068, 49738142], [49738923, 49739041], [49739243, 49739343], [49739515, 49739577], [49739766, 49739838], [49740065, 49740186], [49740859, 49740961], [49742082, 49742189], [49742416, 49742619], [49742966, 49742970]]
ENST00000454491 [[49726989, 49727255], [49728562, 49728680], [49728857, 49728942], [49734575, 49734637]] [[49728598, 49728680], [49728857, 49728942], [49734575, 49734637]]
ENST00000443204 [[49726989, 49727039], [49728562, 49728680], [49728857, 49728942], [49734477, 49734655], [49734795, 49734845]] [[49728598, 49728680], [49728857, 49728942], [49734477, 49734517]]
ENST00000486102 [[49726994, 49727039], [49728562, 49728680], [49728857, 49728942], [49734575, 49734655], [49734795, 49734890], [49735317, 49735372], [49735484, 49735570], [49735872, 49735959], [49736187, 49736255], [49736412, 49736538], [49736900, 49737015], [49737100, 49737205], [49737659, 49737785], [49737904, 49737997], [49738068, 49738142], [49738923, 49739041], [49739243, 49739343], [49739515, 49739577], [49739766, 49739838], [49740065, 49740186], [49740859, 49740961], [49742082, 49742619], [49742966, 49743112], [49743414, 49743498], [49744223, 49744331], [49749911, 49750089], [49750945, 49751020], [49751170, 49751258], [49751342, 49751430], [49751522, 49751607], [49752924, 49753147], [49753254, 49753443], [49753534, 49753610], [49753825, 49753910], [49757943, 49758086], [49758232, 49758327], [49758452, 49758538], [49758617, 49758962]] None
ENST00000487805 [[49726997, 49727039], [49728562, 49728680], [49728857, 49728942], [49734575, 49734655], [49734795, 49734890], [49735317, 49735372], [49735484, 49735570], [49735872, 49735959], [49736187, 49736255], [49736412, 49736538], [49736900, 49737015], [49737100, 49737997], [49738068, 49738142], [49738923, 49739041], [49739243, 49739343], [49739515, 49739577], [49739766, 49739838], [49740065, 49740186], [49740859, 49740961], [49742082, 49742189], [49742514, 49742619], [49742966, 49743498], [49744223, 49744331], [49749911, 49751020], [49751170, 49751258], [49751342, 49751430], [49751522, 49751607], [49753007, 49753147], [49753254, 49753443], [49753534, 49753610], [49753825, 49753910], [49757943, 49758086], [49758232, 49758327], [49758452, 49758538], [49758617, 49758960]] None
ENST00000494005 [[49737932, 49737997], [49738068, 49738142], [49738923, 49739041], [49739243, 49739543]] None
ENST00000469978 [[49749982, 49750089], [49750945, 49751020], [49751170, 49751430], [49751522, 49751607], [49753007, 49753147], [49753254, 49753476]] None
ENST00000433785 [[49750262, 49750325], [49750945, 49751020], [49751170, 49751258], [49751342, 49751430], [49751522, 49751607], [49753007, 49753147], [49753254, 49753443], [49753534, 49753610], [49753825, 49753910], [49757943, 49758086], [49758232, 49758327], [49758452, 49758538], [49758617, 49758959]] [[49750315, 49750325], [49750945, 49751020], [49751170, 49751258], [49751342, 49751430], [49751522, 49751607], [49753007, 49753147], [49753254, 49753443], [49753534, 49753610], [49753825, 49753910], [49757943, 49758086], [49758232, 49758327], [49758452, 49758538], [49758617, 49758738]]
ENST00000444689 [[49750959, 49751020], [49751342, 49751430], [49751522, 49751607], [49753007, 49753147], [49753254, 49753322]] [[49750959, 49751020], [49751342, 49751359]]
ENST00000497099 [[49755536, 49755695], [49755824, 49756037], [49757943, 49758086], [49758232, 49758323]] None
ENST00000498376 [[49757991, 49758086], [49758232, 49758538], [49758617, 49758962]] None
NM_022064 [[49726931, 49727039], [49728562, 49728680], [49728857, 49728942], [49734575, 49734655], [49734795, 49734890], [49735317, 49735372], [49735484, 49735570], [49735872, 49735959], [49736187, 49736255], [49736412, 49736538], [49736900, 49737015], [49737100, 49737205], [49737659, 49737785], [49737904, 49737997], [49738068, 49738142], [49738923, 49739041], [49739243, 49739343], [49739515, 49739577], [49739766, 49739838], [49740065, 49740186], [49740859, 49740961], [49742082, 49742189], [49742416, 49742615], [49742966, 49743112], [49743414, 49743498], [49744223, 49744331], [49749911, 49750089], [49750945, 49751020], [49751170, 49751258], [49751342, 49751430], [49751522, 49751607], [49753007, 49753147], [49753254, 49753443], [49753534, 49753610], [49753825, 49753910], [49757943, 49758086], [49758232, 49758327], [49758452, 49758538], [49758617, 49758962]] [[49728598, 49728680], [49728857, 49728942], [49734575, 49734655], [49734795, 49734890], [49735317, 49735372], [49735484, 49735570], [49735872, 49735959], [49736187, 49736255], [49736412, 49736538], [49736900, 49737015], [49737100, 49737205], [49737659, 49737785], [49737904, 49737997], [49738068, 49738142], [49738923, 49739041], [49739243, 49739343], [49739515, 49739577], [49739766, 49739838], [49740065, 49740186], [49740859, 49740961], [49742082, 49742189], [49742416, 49742615], [49742966, 49743112], [49743414, 49743498], [49744223, 49744331], [49749911, 49750089], [49750945, 49751020], [49751170, 49751258], [49751342, 49751430], [49751522, 49751607], [49753007, 49753147], [49753254, 49753443], [49753534, 49753610], [49753825, 49753910], [49757943, 49758086], [49758232, 49758327], [49758452, 49758538], [49758617, 49758738]]
NR_135218 [[49726931, 49727039], [49728562, 49728680], [49728857, 49728942], [49734575, 49734655], [49734795, 49734890], [49735317, 49735372], [49735484, 49735570], [49735872, 49735959], [49736187, 49736255], [49736412, 49736538], [49736900, 49737015], [49737100, 49737205], [49737659, 49737785], [49737904, 49737997], [49738068, 49738142], [49738923, 49739041], [49739243, 49739343], [49739515, 49739577], [49739766, 49739838], [49740065, 49740186], [49740859, 49740961], [49742082, 49742189], [49742416, 49742619], [49742966, 49743112], [49743414, 49743498], [49744223, 49744331], [49749911, 49750325], [49750945, 49751020], [49751170, 49751258], [49751342, 49751430], [49751522, 49751607], [49753007, 49753147], [49753254, 49753443], [49753534, 49753610], [49753825, 49753910], [49757943, 49758086], [49758232, 49758327], [49758452, 49758538], [49758617, 49758962]] None
Promoter
Chrom Start End Description
chr3 49726561 49726577 CAGE_peak_3_at_RNF123_5end
chr3 49726589 49726592 CAGE_peak_7_at_RNF123_5end
chr3 49726593 49726603 CAGE_peak_4_at_RNF123_5end
chr3 49726965 49727014 CAGE_peak_1_at_RNF123_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I050297 50297685 50304145 2.28 [{'connected_gene': 'HYAL3', 'score': 570.09}, {'connected_gene': 'HYAL1', 'score': 558.67}, {'connected_gene': 'NAT6', 'score': 556.18}, {'connected_gene': 'SEMA3F-AS1', 'score': 12.28}, {'connected_gene': 'RBM5', 'score': 11.87}, {'connected_gene': 'TMEM115', 'score': 11.8}, {'connected_gene': 'CYB561D2', 'score': 11.63}, {'connected_gene': 'AMT', 'score': 7.65}, {'connected_gene': 'DAG1', 'score': 5.8}, {'connected_gene': 'RNF123', 'score': 4.33}]
chr3 GH03I049686 49686242 49690453 2.25 [{'connected_gene': 'MST1', 'score': 559.59}, {'connected_gene': 'PIR39139', 'score': 550.77}, {'connected_gene': 'RNF123', 'score': 550.77}, {'connected_gene': 'AMT', 'score': 19.19}, {'connected_gene': 'RBM6', 'score': 15.08}, {'connected_gene': 'QRICH1', 'score': 13.66}, {'connected_gene': 'CDHR4', 'score': 12.75}, {'connected_gene': 'AMIGO3', 'score': 12.64}, {'connected_gene': 'GMPPB', 'score': 12.63}, {'connected_gene': 'IMPDH2', 'score': 12.17}, {'connected_gene': 'USP19', 'score': 11.55}, {'connected_gene': 'PHF5EP', 'score': 11.1}, {'connected_gene': 'IP6K1', 'score': 11.08}, {'connected_gene': 'TMEM115', 'score': 10.21}, {'connected_gene': 'APEH', 'score': 7.85}, {'connected_gene': 'PIR43040', 'score': 0.77}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
chr3 GH03I049703 49703528 49703717 0.67 [{'connected_gene': 'RNF123', 'score': 0.39}, {'connected_gene': 'MST1', 'score': 0.39}, {'connected_gene': 'AMIGO3', 'score': 0.37}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
chr3 GH03I049747 49747458 49749338 0.66 [{'connected_gene': 'FAM212A', 'score': 23.41}, {'connected_gene': 'PHF5EP', 'score': 12.44}, {'connected_gene': 'IP6K1', 'score': 12.41}, {'connected_gene': 'GMPPB', 'score': 12.2}, {'connected_gene': 'AMIGO3', 'score': 12.18}, {'connected_gene': 'RNF123', 'score': 12.09}, {'connected_gene': 'BSN-AS1', 'score': 10.23}, {'connected_gene': 'BSN', 'score': 10.17}, {'connected_gene': 'BSN-AS2', 'score': 9.87}, {'connected_gene': 'COX6CP14', 'score': 0.39}, {'connected_gene': 'GC03M049738', 'score': 0.34}, {'connected_gene': 'PIR40022', 'score': 0.34}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3 GH03I049711 49711511 49711981 0.2 [{'connected_gene': 'AMIGO3', 'score': 0.44}, {'connected_gene': 'RNF123', 'score': 0.34}, {'connected_gene': 'MST1', 'score': 0.34}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
chr3 GH03I049719 49718751 49720317 1.76 [{'connected_gene': 'AMIGO3', 'score': 550.77}, {'connected_gene': 'FAM212A', 'score': 23.43}, {'connected_gene': 'GMPPB', 'score': 0.77}, {'connected_gene': 'RNF123', 'score': 0.29}, {'connected_gene': 'MST1', 'score': 0.29}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
chr3 GH03I049718 49718535 49718617 0.38 [{'connected_gene': 'AMIGO3', 'score': 550.77}, {'connected_gene': 'GMPPB', 'score': 0.44}, {'connected_gene': 'RNF123', 'score': 0.31}, {'connected_gene': 'MST1', 'score': 0.31}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
chr3 GH03I049694 49694586 49695885 0.63 [{'connected_gene': 'WDR6', 'score': 42.37}, {'connected_gene': 'AMIGO3', 'score': 13.3}, {'connected_gene': 'GMPPB', 'score': 13.27}, {'connected_gene': 'APEH', 'score': 12.2}, {'connected_gene': 'BSN-AS1', 'score': 11.18}, {'connected_gene': 'BSN', 'score': 11.06}, {'connected_gene': 'AMT', 'score': 9.56}, {'connected_gene': 'C3orf18', 'score': 5.48}, {'connected_gene': 'RNF123', 'score': 0.44}, {'connected_gene': 'MST1', 'score': 0.44}, {'connected_gene': 'GC03P049421', 'score': 0.06}]

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