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
ENST00000561823 [[87417600, 87417802], [87423367, 87423478], [87425203, 87425346]] None
ENST00000562778 [[87417661, 87417802], [87423156, 87423319], [87425203, 87425459]] None
ENST00000599768 [[87423366, 87423437], [87425203, 87425344]] None
ENST00000563720 [[87423375, 87423521], [87425203, 87425344]] None
ENST00000268607 [[87425405, 87426073], [87432420, 87432476], [87435780, 87435887], [87436528, 87438385]] [[87426033, 87426073], [87432420, 87432476], [87435780, 87435887], [87436528, 87436703]]
ENST00000570189 [[87425922, 87426073], [87432420, 87432476], [87433203, 87433292], [87435780, 87435887], [87436528, 87437384]] [[87426033, 87426073], [87432420, 87432476], [87433203, 87433251]]
ENST00000565788 [[87425939, 87426073], [87432420, 87432476], [87435780, 87436215]] [[87426033, 87426073], [87432420, 87432476], [87435780, 87435912]]
ENST00000564844 [[87425949, 87426925], [87432420, 87432476], [87433203, 87433292], [87435780, 87435887], [87436528, 87438385]] [[87426033, 87426240]]
ENST00000564638 [[87426028, 87426073], [87432420, 87433110]] None
ENST00000534986 [[87426400, 87426925], [87432420, 87432476], [87433203, 87433292], [87435780, 87435887], [87436528, 87438369]] [[87435861, 87435887], [87436528, 87436703]]
NM_022818 [[87425800, 87426073], [87432420, 87432476], [87435780, 87435887], [87436528, 87438380]] [[87426033, 87426073], [87432420, 87432476], [87435780, 87435887], [87436528, 87436703]]
Promoter
Chrom Start End Description
chr16 87425381 87425393 CAGE_peak_8_at_MAP1LC3B_5end
chr16 87425788 87425833 CAGE_peak_3_at_MAP1LC3B_5end
chr16 87425889 87425897 CAGE_peak_2_at_MAP1LC3B_5end
chr16 87425914 87425959 CAGE_peak_1_at_MAP1LC3B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I087379 87379079 87380030 1.06 [{'connected_gene': 'MAP1LC3B', 'score': 0.77}, {'connected_gene': 'PIR52096', 'score': 0.39}, {'connected_gene': 'FBXO31', 'score': 0.39}]
chr16 GH16I087015 87015116 87015355 0.23 [{'connected_gene': 'MAP1LC3B', 'score': 1.88}, {'connected_gene': 'LOC105371393', 'score': 0.26}, {'connected_gene': 'GC16M086906', 'score': 0.14}]
chr16 GH16I087864 87864973 87873764 2.59 [{'connected_gene': 'SLC7A5', 'score': 550.77}, {'connected_gene': 'ZC3H18', 'score': 34.93}, {'connected_gene': 'BANP', 'score': 23.48}, {'connected_gene': 'KLHDC4', 'score': 21.68}, {'connected_gene': 'ZCCHC14', 'score': 14.83}, {'connected_gene': 'CTU2', 'score': 10.73}, {'connected_gene': 'TRAPPC2L', 'score': 10.13}, {'connected_gene': 'CA5A', 'score': 8.33}, {'connected_gene': 'MAP1LC3B', 'score': 1.77}, {'connected_gene': 'FBXO31', 'score': 1.41}, {'connected_gene': 'PIR45032', 'score': 0.44}]
chr16 GH16I087390 87390698 87394724 2.3 [{'connected_gene': 'FBXO31', 'score': 561.08}, {'connected_gene': 'MAP1LC3B', 'score': 550.44}, {'connected_gene': 'MTHFSD', 'score': 46.57}, {'connected_gene': 'BANP', 'score': 27.43}, {'connected_gene': 'KLHDC4', 'score': 10.07}, {'connected_gene': 'ZCCHC14', 'score': 9.95}, {'connected_gene': 'ENSG00000261592', 'score': 0.44}]
chr16 GH16I087375 87375407 87377085 1.07 [{'connected_gene': 'FBXO31', 'score': 9.61}, {'connected_gene': 'MAP1LC3B', 'score': 0.44}, {'connected_gene': 'PIR52096', 'score': 0.44}]
chr16 GH16I087369 87369987 87372234 0.78 [{'connected_gene': 'FBXO31', 'score': 10.05}, {'connected_gene': 'PIR52096', 'score': 0.77}, {'connected_gene': 'MAP1LC3B', 'score': 0.39}]
chr16 GH16I087380 87380351 87385621 2.33 [{'connected_gene': 'FBXO31', 'score': 578.11}, {'connected_gene': 'TRM-CAT6-1', 'score': 550.77}, {'connected_gene': 'MAP1LC3B', 'score': 550.77}, {'connected_gene': 'GC16M087385', 'score': 550.77}, {'connected_gene': 'ZCCHC14', 'score': 24.88}, {'connected_gene': 'PIR52096', 'score': 0.37}]
chr16 GH16I087386 87386060 87390017 1.31 [{'connected_gene': 'MTHFSD', 'score': 24.58}, {'connected_gene': 'FBXO31', 'score': 18.97}, {'connected_gene': 'ZCCHC14', 'score': 18.86}, {'connected_gene': 'KLHDC4', 'score': 10.07}, {'connected_gene': 'BANP', 'score': 9.81}, {'connected_gene': 'TRM-CAT6-1', 'score': 0.77}, {'connected_gene': 'MAP1LC3B', 'score': 0.77}, {'connected_gene': 'GC16M087385', 'score': 0.77}]
chr16 GH16I087576 87576315 87576504 0.38 [{'connected_gene': 'JPH3', 'score': 12.13}, {'connected_gene': 'KLHDC4', 'score': 11.0}, {'connected_gene': 'MAP1LC3B', 'score': 5.67}, {'connected_gene': 'PIR35253', 'score': 0.22}]
chr16 GH16I087841 87841021 87863965 1.85 [{'connected_gene': 'BANP', 'score': 14.56}, {'connected_gene': 'SLC7A5', 'score': 11.53}, {'connected_gene': 'FBXO31', 'score': 6.14}, {'connected_gene': 'LOC400553', 'score': 6.09}, {'connected_gene': 'ZCCHC14', 'score': 5.21}, {'connected_gene': 'APRT', 'score': 4.94}, {'connected_gene': 'MAP1LC3B', 'score': 3.1}, {'connected_gene': 'CA5A', 'score': 3.1}, {'connected_gene': 'KLHDC4', 'score': 1.74}, {'connected_gene': 'PIR45032', 'score': 0.44}, {'connected_gene': 'ENSG00000260466', 'score': 0.37}]
chr16 GH16I087469 87469530 87472695 1.22 [{'connected_gene': 'KLHDC4', 'score': 10.07}, {'connected_gene': 'ZCCHC14', 'score': 6.9}, {'connected_gene': 'MAP1LC3B', 'score': 5.36}, {'connected_gene': 'ENSG00000276337', 'score': 0.77}, {'connected_gene': 'NR3C1P1', 'score': 0.77}]
chr16 GH16I087459 87459709 87467630 1.73 [{'connected_gene': 'KLHDC4', 'score': 10.07}, {'connected_gene': 'LOC101928659', 'score': 9.87}, {'connected_gene': 'ZCCHC14', 'score': 8.6}, {'connected_gene': 'MAP1LC3B', 'score': 7.12}, {'connected_gene': 'FBXO31', 'score': 6.14}, {'connected_gene': 'BANP', 'score': 4.27}, {'connected_gene': 'NR3C1P1', 'score': 0.77}, {'connected_gene': 'ENSG00000261592', 'score': 0.21}]
chr16 GH16I087385 87385692 87385732 0.4 [{'connected_gene': 'TRM-CAT6-1', 'score': 550.77}, {'connected_gene': 'MAP1LC3B', 'score': 550.77}, {'connected_gene': 'GC16M087385', 'score': 550.77}, {'connected_gene': 'FBXO31', 'score': 0.44}]
chr16 GH16I087368 87368800 87369000 0.38 [{'connected_gene': 'PIR52096', 'score': 550.77}, {'connected_gene': 'MAP1LC3B', 'score': 0.37}, {'connected_gene': 'FBXO31', 'score': 0.34}]