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
ENST00000297904 [[15363712, 15364381], [15365285, 15365481], [15371189, 15371290], [15373271, 15373420], [15376124, 15376315], [15381230, 15381441], [15401978, 15402498]] [[15364254, 15364381], [15365285, 15365481], [15371189, 15371290], [15373271, 15373420], [15376124, 15376315], [15381230, 15381441], [15401978, 15402068]]
ENST00000488351 [[15364093, 15364381], [15365285, 15365597]] None
NM_004469 [[15363712, 15364381], [15365285, 15365481], [15371189, 15371290], [15373271, 15373420], [15376124, 15376315], [15381230, 15381441], [15401978, 15402535]] [[15364254, 15364381], [15365285, 15365481], [15371189, 15371290], [15373271, 15373420], [15376124, 15376315], [15381230, 15381441], [15401978, 15402068]]
Promoter
Chrom Start End Description
chrX 15402442 15402487 CAGE_peak_1_at_FIGF_5end
chrX 15402502 15402515 CAGE_peak_3_at_FIGF_5end
chrX 15402524 15402540 CAGE_peak_2_at_FIGF_5end
chrX 15402624 15402632 CAGE_peak_4_at_FIGF_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chrX GH0XI015417 15417805 15419147 0.52 [{'connected_gene': 'PIR', 'score': 19.97}, {'connected_gene': 'BMX', 'score': 12.77}, {'connected_gene': 'VEGFD', 'score': 0.29}, {'connected_gene': 'PIR-FIGF', 'score': 0.19}]
chrX GH0XI015451 15451394 15451405 0.22 [{'connected_gene': 'PIR', 'score': 11.36}, {'connected_gene': 'BMX', 'score': 0.39}, {'connected_gene': 'PIR-FIGF', 'score': 0.28}, {'connected_gene': 'VEGFD', 'score': 0.2}]
chrX GH0XI015404 15404163 15405565 0.52 [{'connected_gene': 'PIR', 'score': 8.04}, {'connected_gene': 'VEGFD', 'score': 0.34}, {'connected_gene': 'BMX', 'score': 0.22}, {'connected_gene': 'PIR-FIGF', 'score': 0.17}]
chrX GH0XI015473 15473883 15476762 0.73 [{'connected_gene': 'PIR', 'score': 18.96}, {'connected_gene': 'VEGFD', 'score': 5.35}, {'connected_gene': 'BMX', 'score': 0.39}, {'connected_gene': 'PIR-FIGF', 'score': 0.37}]
chrX GH0XI015471 15471000 15471401 0.89 [{'connected_gene': 'PIR', 'score': 20.21}, {'connected_gene': 'VEGFD', 'score': 4.67}, {'connected_gene': 'BMX', 'score': 0.44}, {'connected_gene': 'PIR-FIGF', 'score': 0.34}]
chrX GH0XI015492 15492029 15494243 1.95 [{'connected_gene': 'PIR', 'score': 592.97}, {'connected_gene': 'PIR-FIGF', 'score': 550.77}, {'connected_gene': 'VEGFD', 'score': 5.36}, {'connected_gene': 'BMX', 'score': 0.31}]
chrX GH0XI015789 15789570 15792213 1.96 [{'connected_gene': 'ZRSR2', 'score': 561.69}, {'connected_gene': 'CA5B', 'score': 12.67}, {'connected_gene': 'CA5BP1', 'score': 12.65}, {'connected_gene': 'VEGFD', 'score': 5.16}, {'connected_gene': 'GC0XP015773', 'score': 0.37}, {'connected_gene': 'AP1S2', 'score': 0.21}]
chrX GH0XI015343 15343119 15343348 0.75 [{'connected_gene': 'BMX', 'score': 11.2}, {'connected_gene': 'PIGA', 'score': 0.44}, {'connected_gene': 'VEGFD', 'score': 0.26}]
chrX GH0XI015356 15356579 15356708 0.57 [{'connected_gene': 'PIGA', 'score': 12.49}, {'connected_gene': 'ASB11', 'score': 12.41}, {'connected_gene': 'BMX', 'score': 12.16}, {'connected_gene': 'PIR', 'score': 11.49}, {'connected_gene': 'ACE2', 'score': 11.19}, {'connected_gene': 'GS1-594A7.3', 'score': 11.19}, {'connected_gene': 'VEGFD', 'score': 0.31}, {'connected_gene': 'PIR-FIGF', 'score': 0.12}]
chrX GH0XI015384 15384336 15384395 0.84 [{'connected_gene': 'VEGFD', 'score': 550.77}, {'connected_gene': 'PIGA', 'score': 0.25}, {'connected_gene': 'PIR-FIGF', 'score': 0.14}]
chrX GH0XI015737 15737177 15739417 1.9 [{'connected_gene': 'CA5B', 'score': 562.56}, {'connected_gene': 'CLTRN', 'score': 13.41}, {'connected_gene': 'CA5BP1', 'score': 12.53}, {'connected_gene': 'ENSG00000200620', 'score': 12.42}, {'connected_gene': 'VEGFD', 'score': 5.16}, {'connected_gene': 'GC0XP015773', 'score': 0.28}]