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
ENST00000317089 [[46989298, 46991132], [46992914, 46993042], [46993186, 46993331], [46998522, 46998719], [47001424, 47001558], [47001995, 47002076], [47005260, 47005484], [47005807, 47005867], [47007405, 47007699]] [[46990940, 46991132], [46992914, 46993042], [46993186, 46993331], [46998522, 46998719], [47001424, 47001558], [47001995, 47002076], [47005260, 47005484], [47005807, 47005867], [47007405, 47007483]]
ENST00000563158 [[46990533, 46991132], [46992914, 46993042], [46993186, 46993331], [46998522, 46998719], [47001424, 47001558], [47001995, 47002076], [47005260, 47005571], [47005807, 47005867], [47007405, 47007575]] [[47005565, 47005571], [47005807, 47005867], [47007405, 47007483]]
ENST00000569553 [[46992474, 46993042], [46993186, 46993523]] None
ENST00000566791 [[46998644, 46998719], [47001424, 47001558], [47001995, 47002076], [47005260, 47006854]] [[46998644, 46998719], [47001424, 47001558], [47001995, 47002076], [47005260, 47005373]]
NM_005880 [[46989273, 46991132], [46992914, 46993042], [46993186, 46993331], [46998522, 46998719], [47001424, 47001558], [47001995, 47002076], [47005260, 47005484], [47005807, 47005867], [47007405, 47007625]] [[46990940, 46991132], [46992914, 46993042], [46993186, 46993331], [46998522, 46998719], [47001424, 47001558], [47001995, 47002076], [47005260, 47005484], [47005807, 47005867], [47007405, 47007483]]
Promoter
Chrom Start End Description
chr16 47005315 47005347 CAGE_peak_2_at_DNAJA2_5end
chr16 47007545 47007620 CAGE_peak_1_at_DNAJA2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I046960 46960269 46960478 0.31 [{'connected_gene': 'NETO2', 'score': 10.49}, {'connected_gene': 'DNAJA2', 'score': 0.39}, {'connected_gene': 'GC16M046921', 'score': 0.28}]
chr16 GH16I046961 46961396 46962498 0.63 [{'connected_gene': 'NETO2', 'score': 10.49}, {'connected_gene': 'DNAJA2', 'score': 0.39}, {'connected_gene': 'GC16M046921', 'score': 0.28}]
chr16 GH16I047034 47033330 47033479 0.38 [{'connected_gene': 'DNAJA2', 'score': 11.7}, {'connected_gene': 'GPT2', 'score': 10.45}, {'connected_gene': 'GC16M047034', 'score': 0.77}, {'connected_gene': 'ENSG00000259983', 'score': 0.37}, {'connected_gene': 'ENSG00000259821', 'score': 0.31}]
chr16 GH16I046976 46975450 46975599 0.43 [{'connected_gene': 'DNAJA2', 'score': 550.77}, {'connected_gene': 'ENSG00000261173', 'score': 550.77}, {'connected_gene': 'GC16P046980', 'score': 0.44}]
chr16 GH16I046972 46971636 46971717 0.2 [{'connected_gene': 'DNAJA2', 'score': 0.77}, {'connected_gene': 'GC16M046921', 'score': 0.25}]
chr16 GH16I046970 46970209 46970378 0.7 [{'connected_gene': 'DNAJA2', 'score': 0.77}, {'connected_gene': 'GC16M046921', 'score': 0.25}]
chr16 GH16I046927 46927692 46928250 0.51 [{'connected_gene': 'GC16M046921', 'score': 0.77}, {'connected_gene': 'GPT2', 'score': 0.26}, {'connected_gene': 'DNAJA2', 'score': 0.25}]
chr16 GH16I047033 47033512 47034427 0.43 [{'connected_gene': 'GC16M047034', 'score': 550.77}, {'connected_gene': 'DNAJA2', 'score': 11.68}, {'connected_gene': 'GPT2', 'score': 10.45}, {'connected_gene': 'ENSG00000259983', 'score': 0.34}, {'connected_gene': 'ENSG00000259821', 'score': 0.31}]
chr16 GH16I046929 46929829 46929998 0.9 [{'connected_gene': 'GC16M046921', 'score': 0.44}, {'connected_gene': 'DNAJA2', 'score': 0.26}, {'connected_gene': 'GPT2', 'score': 0.25}]
chr16 GH16I046930 46929606 46929636 0.74 [{'connected_gene': 'GC16M046921', 'score': 0.77}, {'connected_gene': 'DNAJA2', 'score': 0.26}, {'connected_gene': 'GPT2', 'score': 0.25}]
chr16 GH16I047037 47037331 47038600 1.44 [{'connected_gene': 'ENSG00000261131', 'score': 13.13}, {'connected_gene': 'DNAJA2', 'score': 2.05}, {'connected_gene': 'GC16M047034', 'score': 0.77}, {'connected_gene': 'GC16P047062', 'score': 0.34}]
chr16 GH16I046971 46971805 46975146 2.04 [{'connected_gene': 'ENSG00000261173', 'score': 559.24}, {'connected_gene': 'DNAJA2', 'score': 550.77}, {'connected_gene': 'ENSG00000261131', 'score': 12.41}, {'connected_gene': 'GC16M046921', 'score': 0.25}]
chr16 GH16I046947 46947929 46948078 0.63 [{'connected_gene': 'GC16M046921', 'score': 0.34}, {'connected_gene': 'DNAJA2', 'score': 0.31}]
chr16 GH16I046932 46932929 46933118 0.57 [{'connected_gene': 'GC16M046921', 'score': 0.44}, {'connected_gene': 'DNAJA2', 'score': 0.26}]

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