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
ENST00000325455 [[100900354, 100910002], [100912675, 100912833], [100920659, 100920790], [100922154, 100922299], [100933177, 100933483], [100962490, 100962607], [100996737, 100996889], [100998164, 101001255]] [[100909846, 100910002], [100912675, 100912833], [100920659, 100920790], [100922154, 100922299], [100933177, 100933483], [100962490, 100962607], [100996737, 100996889], [100998164, 100999801]]
ENST00000534013 [[100909410, 100910002], [100912675, 100912833], [100920659, 100920790], [100922154, 100922299], [100933177, 100933483], [100962490, 100962607], [100996737, 100996889], [101000158, 101000458]] [[100909846, 100910002], [100912675, 100912833], [100920659, 100920790], [100922154, 100922299], [100933177, 100933483], [100962490, 100962607], [100996737, 100996744]]
ENST00000533207 [[100909791, 100910002], [100912675, 100912833], [100920659, 100920790], [100922154, 100922299], [100933177, 100934756]] None
ENST00000526300 [[100909846, 100910002], [100912675, 100912833], [100922154, 100922299], [100962490, 100962607], [100996737, 100996889], [100998164, 100999801]] [[100912796, 100912833], [100922154, 100922299], [100962490, 100962607], [100996737, 100996889], [100998164, 100999801]]
ENST00000528960 [[100909846, 100910002], [100912675, 100912833], [100920659, 100920738], [100922154, 100922299], [100933177, 100933483], [100996737, 100996889], [100998164, 100999801]] [[100920683, 100920738], [100922154, 100922299], [100933177, 100933483], [100996737, 100996889], [100998164, 100999801]]
ENST00000263463 [[100909846, 100910002], [100912675, 100912833], [100920659, 100920790], [100922154, 100922299], [100962490, 100962607], [100996737, 100996889], [100998164, 100999801]] [[100909846, 100910002], [100912675, 100912833], [100920659, 100920790], [100922154, 100922299], [100962490, 100962607], [100996737, 100996889], [100998164, 100999801]]
ENST00000534780 [[100909846, 100910002], [100912675, 100912833], [100920659, 100920738], [100922154, 100922299], [100933177, 100933483], [100962490, 100962607], [100996737, 100996889], [100998164, 100999801]] [[100920683, 100920738], [100922154, 100922299], [100933177, 100933483], [100962490, 100962607], [100996737, 100996889], [100998164, 100999801]]
ENST00000530764 [[100912391, 100912833], [100920659, 100920790], [100922154, 100922201]] None
NM_001202474 [[100900354, 100910002], [100912675, 100912833], [100920659, 100920790], [100922154, 100922299], [100933177, 100933483], [100962490, 100962607], [100996737, 100996889], [100998164, 100999794]] [[100909846, 100910002], [100912675, 100912833], [100920659, 100920790], [100922154, 100922299], [100933177, 100933483], [100962490, 100962607], [100996737, 100996889], [100998164, 100999309]]
NR_073141 [[100900354, 100910002], [100912675, 100912833], [100920659, 100920738], [100922154, 100922299], [100933177, 100933483], [100962490, 100962607], [100996737, 100996889], [100998164, 100999794]] None
NM_001271161 [[100900354, 100910002], [100912675, 100912833], [100920659, 100920790], [100922154, 100922299], [100962490, 100962607], [100996737, 100996889], [100998164, 100999794]] [[100909846, 100910002], [100912675, 100912833], [100920659, 100920790], [100922154, 100922299], [100962490, 100962607], [100996737, 100996889], [100998164, 100999309]]
NR_073143 [[100900354, 100910002], [100912675, 100912833], [100922154, 100922299], [100962490, 100962607], [100996737, 100996889], [100998164, 100999794]] None
NR_073142 [[100900354, 100910002], [100912675, 100912833], [100920659, 100920738], [100922154, 100922299], [100933177, 100933483], [100996737, 100996889], [100998164, 100999794]] None
NM_001271162 [[100900354, 100910002], [100912675, 100912833], [100920659, 100920790], [100922154, 100922299], [100933177, 100933483], [100962490, 100962607], [100996737, 100996889], [101000158, 101000458]] [[100909846, 100910002], [100912675, 100912833], [100920659, 100920790], [100922154, 100922299], [100933177, 100933483], [100962490, 100962607], [100996737, 100996744]]
NM_000926 [[100900354, 100910002], [100912675, 100912833], [100920659, 100920790], [100922154, 100922299], [100933177, 100933483], [100962490, 100962607], [100996737, 100996889], [100998164, 101000544]] [[100909846, 100910002], [100912675, 100912833], [100920659, 100920790], [100922154, 100922299], [100933177, 100933483], [100962490, 100962607], [100996737, 100996889], [100998164, 100999801]]
Promoter
Chrom Start End Description
chr11 100935059 100935062 CAGE_peak_9_at_PGR_5end
chr11 100996790 100996823 CAGE_peak_10_at_PGR_5end
chr11 100999679 100999686 CAGE_peak_11_at_PGR_5end
chr11 100999697 100999708 CAGE_peak_7_at_PGR_5end
chr11 100999775 100999800 CAGE_peak_2_at_PGR_5end
chr11 100999802 100999819 CAGE_peak_4_at_PGR_5end
chr11 100999848 100999858 CAGE_peak_6_at_PGR_5end
chr11 101000445 101000465 CAGE_peak_5_at_PGR_5end
chr11 101000524 101000535 CAGE_peak_3_at_PGR_5end
chr11 101000537 101000553 CAGE_peak_1_at_PGR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I101126 101126888 101129371 1.42 [{'connected_gene': 'PGR', 'score': 571.33}, {'connected_gene': 'PGR-AS1', 'score': 550.77}, {'connected_gene': 'GC11M101129', 'score': 550.77}, {'connected_gene': 'GC11M101128', 'score': 550.77}, {'connected_gene': 'GC11M101029', 'score': 0.16}]
chr11 GH11I102108 102108529 102118217 2.47 [{'connected_gene': 'YAP1', 'score': 564.82}, {'connected_gene': 'DYNC2H1', 'score': 40.51}, {'connected_gene': 'CEP126', 'score': 23.59}, {'connected_gene': 'BIRC2', 'score': 22.23}, {'connected_gene': 'PGR', 'score': 10.08}, {'connected_gene': 'ENSG00000255504', 'score': 4.52}, {'connected_gene': 'ENSG00000277459', 'score': 0.77}, {'connected_gene': 'ENSG00000260008', 'score': 0.44}, {'connected_gene': 'ENSG00000254422', 'score': 0.13}]
chr11 GH11I101130 101129610 101129899 1.12 [{'connected_gene': 'PGR-AS1', 'score': 550.77}, {'connected_gene': 'GC11M101129', 'score': 550.77}, {'connected_gene': 'PGR', 'score': 550.77}, {'connected_gene': 'GC11M101128', 'score': 550.77}]
chr11 GH11I101129 101129390 101129539 0.57 [{'connected_gene': 'PGR-AS1', 'score': 550.77}, {'connected_gene': 'GC11M101129', 'score': 550.77}, {'connected_gene': 'PGR', 'score': 550.77}, {'connected_gene': 'GC11M101128', 'score': 550.77}]
chr11 GH11I101091 101091930 101092079 0.49 [{'connected_gene': 'GC11M101129', 'score': 0.28}, {'connected_gene': 'PGR', 'score': 0.28}, {'connected_gene': 'GC11M101128', 'score': 0.28}, {'connected_gene': 'GC11M101029', 'score': 0.22}]
chr11 GH11I101033 101033690 101034769 0.52 [{'connected_gene': 'GC11M101029', 'score': 550.77}, {'connected_gene': 'GC11M101129', 'score': 0.16}, {'connected_gene': 'GC11M101128', 'score': 0.16}, {'connected_gene': 'PGR', 'score': 0.15}]
chr11 GH11I101076 101076641 101076947 0.33 [{'connected_gene': 'GC11M101029', 'score': 0.26}, {'connected_gene': 'GC11M101129', 'score': 0.23}, {'connected_gene': 'PGR', 'score': 0.23}, {'connected_gene': 'GC11M101128', 'score': 0.23}]

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