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
ENST00000366924 [[161123269, 161123385], [161127438, 161127574], [161128731, 161128838], [161132108, 161132915]] [[161123336, 161123385], [161127438, 161127574], [161128731, 161128838], [161132108, 161132227]]
ENST00000308192 [[161123273, 161123385], [161127438, 161127574], [161128731, 161128838], [161132108, 161132223], [161134017, 161134157], [161135825, 161135946], [161137676, 161137795], [161139325, 161139488], [161139724, 161139870], [161143439, 161143599], [161152082, 161152264], [161152776, 161152925], [161155026, 161155120], [161157918, 161158039], [161159569, 161159644], [161160099, 161160240], [161162342, 161162449], [161173146, 161173292], [161173931, 161174338]] [[161123336, 161123385], [161127438, 161127574], [161128731, 161128838], [161132108, 161132223], [161134017, 161134157], [161135825, 161135946], [161137676, 161137795], [161139325, 161139488], [161139724, 161139870], [161143439, 161143599], [161152082, 161152264], [161152776, 161152925], [161155026, 161155120], [161157918, 161158039], [161159569, 161159644], [161160099, 161160240], [161162342, 161162449], [161173146, 161173292], [161173931, 161174093]]
ENST00000418964 [[161123277, 161123385], [161127438, 161127625], [161128731, 161128838], [161132108, 161132223], [161134017, 161134058]] [[161123336, 161123385], [161127438, 161127625], [161128731, 161128838], [161132108, 161132223], [161134017, 161134058]]
ENST00000297289 [[161123291, 161123385], [161143439, 161143599], [161152082, 161152263]] None
ENST00000462918 [[161123299, 161123385], [161127438, 161127574], [161128731, 161128838], [161132108, 161132223], [161134017, 161134408]] None
ENST00000483038 [[161123323, 161123385], [161127438, 161127574], [161128731, 161128838], [161129189, 161129641]] None
ENST00000484367 [[161126419, 161127574], [161128731, 161128838], [161132108, 161133311]] None
ENST00000494325 [[161127141, 161127174], [161127438, 161127574], [161128731, 161128838], [161132108, 161132604]] None
ENST00000471691 [[161127406, 161127574], [161128731, 161129349]] None
ENST00000493435 [[161151771, 161152264], [161152776, 161152865]] None
ENST00000467466 [[161159466, 161159644], [161160099, 161160240], [161162342, 161162449], [161173146, 161173285]] None
ENST00000461414 [[161160199, 161160240], [161162342, 161162400], [161173146, 161173292], [161173931, 161174347]] None
NM_001168338 [[161123224, 161123385], [161127438, 161127574], [161128731, 161128838], [161132108, 161132904]] [[161123336, 161123385], [161127438, 161127574], [161128731, 161128838], [161132108, 161132227]]
NM_000301 [[161123224, 161123385], [161127438, 161127574], [161128731, 161128838], [161132108, 161132223], [161134017, 161134157], [161135825, 161135946], [161137676, 161137795], [161139325, 161139488], [161139724, 161139870], [161143439, 161143599], [161152082, 161152264], [161152776, 161152925], [161155026, 161155120], [161157918, 161158039], [161159569, 161159644], [161160099, 161160240], [161162342, 161162449], [161173146, 161173292], [161173931, 161175086]] [[161123336, 161123385], [161127438, 161127574], [161128731, 161128838], [161132108, 161132223], [161134017, 161134157], [161135825, 161135946], [161137676, 161137795], [161139325, 161139488], [161139724, 161139870], [161143439, 161143599], [161152082, 161152264], [161152776, 161152925], [161155026, 161155120], [161157918, 161158039], [161159569, 161159644], [161160099, 161160240], [161162342, 161162449], [161173146, 161173292], [161173931, 161174093]]
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I160703 160703749 160705750 0.69 [{'connected_gene': 'PLG', 'score': 0.77}, {'connected_gene': 'GC06P160742', 'score': 0.28}]
chr6 GH06I160702 160702195 160702254 0.73 [{'connected_gene': 'PLG', 'score': 550.77}, {'connected_gene': 'GC06P160742', 'score': 0.28}]
chr6 GH06I160714 160714368 160715638 0.2 [{'connected_gene': 'PLG', 'score': 0.39}, {'connected_gene': 'GC06P160742', 'score': 0.31}]
chr6 GH06I160741 160741927 160742798 0.38 [{'connected_gene': 'GC06P160742', 'score': 550.77}, {'connected_gene': 'ENSG00000276960', 'score': 0.37}, {'connected_gene': 'PLG', 'score': 0.26}]
chr6 GH06I160742 160741089 160741238 0.66 [{'connected_gene': 'GC06P160742', 'score': 550.77}, {'connected_gene': 'PLG', 'score': 0.28}]

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