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
ENST00000259470 [[99794939, 99795330], [99797007, 99797125], [99797809, 99797975], [99798804, 99799029], [99799533, 99799680], [99799774, 99799897], [99800199, 99800335], [99801352, 99801592]] [[99795230, 99795330], [99797007, 99797125], [99797809, 99797975], [99798804, 99799029], [99799533, 99799680], [99799774, 99799897], [99800199, 99800325]]
ENST00000538255 [[99795230, 99795330], [99797007, 99797125], [99797809, 99797975], [99798804, 99799029], [99799533, 99799680], [99799774, 99799897], [99800199, 99800335], [99801888, 99801925]] [[99795230, 99795330], [99797007, 99797125], [99797809, 99797975], [99798804, 99799029], [99799533, 99799680], [99799774, 99799897], [99800199, 99800325]]
ENST00000479932 [[99799572, 99799680], [99799774, 99799897], [99800199, 99800335], [99800692, 99800830], [99801352, 99801424]] None
NM_001333 [[99791958, 99795330], [99797007, 99797125], [99797809, 99797975], [99798804, 99799029], [99799533, 99799680], [99799774, 99799897], [99800199, 99800335], [99801352, 99801592]] [[99795230, 99795330], [99797007, 99797125], [99797809, 99797975], [99798804, 99799029], [99799533, 99799680], [99799774, 99799897], [99800199, 99800325]]
NM_001201575 [[99791958, 99795330], [99797007, 99797125], [99797809, 99797975], [99798804, 99799029], [99799533, 99799680], [99799774, 99799897], [99800199, 99800335], [99801888, 99801925]] [[99795230, 99795330], [99797007, 99797125], [99797809, 99797975], [99798804, 99799029], [99799533, 99799680], [99799774, 99799897], [99800199, 99800325]]
Promoter
Chrom Start End Description
chr9 99801414 99801432 CAGE_peak_1_at_CTSL2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I097041 97041692 97042921 0.66 [{'connected_gene': 'GAS2L1P2', 'score': 4.91}, {'connected_gene': 'CTSV', 'score': 0.77}, {'connected_gene': 'PIR34542', 'score': 0.39}]
chr9 GH09I097046 97045888 97047319 0.69 [{'connected_gene': 'GAS2L1P2', 'score': 4.88}, {'connected_gene': 'CTSV', 'score': 0.44}, {'connected_gene': 'PIR34542', 'score': 0.39}]
chr9 GH09I097050 97050977 97053978 0.86 [{'connected_gene': 'TDRD7', 'score': 9.52}, {'connected_gene': 'GAS2L1P2', 'score': 7.0}, {'connected_gene': 'PIR34542', 'score': 0.77}, {'connected_gene': 'CTSV', 'score': 0.39}]
chr9 GH09I096653 96653191 96656193 1.97 [{'connected_gene': 'AAED1', 'score': 550.77}, {'connected_gene': 'ZNF322P1', 'score': 16.07}, {'connected_gene': 'ZNF510', 'score': 14.76}, {'connected_gene': 'CDC14B', 'score': 12.73}, {'connected_gene': 'LINC00476', 'score': 12.35}, {'connected_gene': 'NCBP1', 'score': 11.17}, {'connected_gene': 'CCDC180', 'score': 11.01}, {'connected_gene': 'ERCC6L2', 'score': 10.83}, {'connected_gene': 'ZNF782', 'score': 9.7}, {'connected_gene': 'CTSV', 'score': 4.06}]
chr9 GH09I097012 97012000 97014400 1.87 [{'connected_gene': 'ZNF782', 'score': 550.77}, {'connected_gene': 'MFSD14C', 'score': 550.77}, {'connected_gene': 'CTSV', 'score': 13.18}, {'connected_gene': 'AAED1', 'score': 3.4}, {'connected_gene': 'TDRD7', 'score': 2.07}, {'connected_gene': 'YRDCP2', 'score': 0.22}]
chr9 GH09I097038 97038528 97040091 1.9 [{'connected_gene': 'CTSV', 'score': 550.77}, {'connected_gene': 'GAS2L1P2', 'score': 4.83}, {'connected_gene': 'MFSD14C', 'score': 0.31}]
chr9 GH09I097087 97087368 97089728 0.43 [{'connected_gene': 'CTSV', 'score': 11.81}, {'connected_gene': 'GAS2L1P2', 'score': 0.44}, {'connected_gene': 'VN1R51P', 'score': 0.44}]
chr9 GH09I096994 96994601 96994800 0.2 [{'connected_gene': 'CTSV', 'score': 11.51}, {'connected_gene': 'ZNF782', 'score': 0.37}, {'connected_gene': 'MFSD14C', 'score': 0.37}, {'connected_gene': 'YRDCP2', 'score': 0.28}]
chr9 GH09I096996 96996280 96997990 0.38 [{'connected_gene': 'CTSV', 'score': 11.51}, {'connected_gene': 'ZNF782', 'score': 0.37}, {'connected_gene': 'MFSD14C', 'score': 0.37}, {'connected_gene': 'YRDCP2', 'score': 0.26}]
chr9 GH09I097045 97045439 97045588 0.2 [{'connected_gene': 'CTSV', 'score': 0.44}, {'connected_gene': 'PIR34542', 'score': 0.39}]

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