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
ENST00000232125 [[122103022, 122103146], [122120222, 122120382], [122121606, 122121729], [122123104, 122123210], [122126127, 122126236], [122128585, 122128764]] [[122120378, 122120382], [122121606, 122121729], [122123104, 122123210], [122126127, 122126236], [122128585, 122128678]]
ENST00000477892 [[122103028, 122103146], [122121606, 122121729], [122123104, 122123210], [122126127, 122126236], [122128585, 122131181]] [[122103112, 122103146], [122121606, 122121729], [122123104, 122123210], [122126127, 122126236], [122128585, 122128678]]
ENST00000469967 [[122103044, 122103146], [122121606, 122121729], [122123104, 122123210], [122126127, 122126811]] [[122103112, 122103146], [122121606, 122121729], [122123104, 122123210], [122126127, 122126290]]
NM_014367 [[122103022, 122103146], [122121606, 122121729], [122123104, 122123210], [122126127, 122126236], [122128585, 122128961]] [[122103112, 122103146], [122121606, 122121729], [122123104, 122123210], [122126127, 122126236], [122128585, 122128678]]
Promoter
Chrom Start End Description
chr3 122103002 122103013 CAGE_peak_2_at_FAM162A_5end
chr3 122103014 122103088 CAGE_peak_1_at_FAM162A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I122073 122073889 122080970 2.01 [{'connected_gene': 'CD86', 'score': 562.73}, {'connected_gene': 'ENSG00000202388', 'score': 12.36}, {'connected_gene': 'DTX3L', 'score': 10.76}, {'connected_gene': 'PARP9', 'score': 10.42}, {'connected_gene': 'CCDC58', 'score': 9.91}, {'connected_gene': 'FAM162A', 'score': 9.91}, {'connected_gene': 'IQCB1', 'score': 5.91}, {'connected_gene': 'EAF2', 'score': 1.77}, {'connected_gene': 'CSTA', 'score': 1.68}, {'connected_gene': 'HCLS1', 'score': 1.65}, {'connected_gene': 'ILDR1', 'score': 0.37}, {'connected_gene': 'CASR', 'score': 0.14}]
chr3 GH03I122403 122403554 122403703 0.2 [{'connected_gene': 'WDR5B', 'score': 0.39}, {'connected_gene': 'FAM162A', 'score': 0.37}]
chr3 GH03I122393 122393014 122393183 0.68 [{'connected_gene': 'WDR5B', 'score': 14.67}, {'connected_gene': 'FAM162A', 'score': 0.44}]
chr3 GH03I122386 122386201 122386400 0.31 [{'connected_gene': 'WDR5B', 'score': 10.6}, {'connected_gene': 'FAM162A', 'score': 0.77}]
chr3 GH03I122409 122409001 122410200 0.51 [{'connected_gene': 'WDR5B', 'score': 20.12}, {'connected_gene': 'LOC102723582', 'score': 12.72}, {'connected_gene': 'FAM162A', 'score': 10.77}, {'connected_gene': 'CCDC58', 'score': 10.77}, {'connected_gene': 'PARP14', 'score': 9.84}]
chr3 GH03I122414 122414824 122417492 2.22 [{'connected_gene': 'WDR5B', 'score': 573.28}, {'connected_gene': 'LOC102723582', 'score': 568.14}, {'connected_gene': 'ENSG00000242531', 'score': 550.77}, {'connected_gene': 'FAM162A', 'score': 10.6}, {'connected_gene': 'CCDC58', 'score': 10.6}]
chr3 GH03I122082 122081922 122083176 0.59 [{'connected_gene': 'ILDR1', 'score': 11.46}, {'connected_gene': 'ENSG00000202388', 'score': 11.34}, {'connected_gene': 'CSTA', 'score': 10.63}, {'connected_gene': 'CCDC58', 'score': 9.82}, {'connected_gene': 'FAM162A', 'score': 9.82}, {'connected_gene': 'IQCB1', 'score': 6.35}, {'connected_gene': 'CD86', 'score': 0.31}, {'connected_gene': 'CASR', 'score': 0.15}]
chr3 GH03I122081 122081622 122081833 0.98 [{'connected_gene': 'ILDR1', 'score': 11.46}, {'connected_gene': 'ENSG00000202388', 'score': 11.34}, {'connected_gene': 'CSTA', 'score': 10.63}, {'connected_gene': 'CCDC58', 'score': 9.82}, {'connected_gene': 'FAM162A', 'score': 9.82}, {'connected_gene': 'CD86', 'score': 8.63}, {'connected_gene': 'EAF2', 'score': 2.54}, {'connected_gene': 'CASR', 'score': 0.15}]
chr3 GH03I122381 122381775 122385401 2.08 [{'connected_gene': 'FAM162A', 'score': 555.02}, {'connected_gene': 'CCDC58', 'score': 550.77}, {'connected_gene': 'WDR5B', 'score': 18.02}, {'connected_gene': 'LOC102723582', 'score': 13.14}]
chr3 GH03I122313 122313907 122315436 0.88 [{'connected_gene': 'CSTA', 'score': 13.43}, {'connected_gene': 'WDR5B', 'score': 12.2}, {'connected_gene': 'CCDC58', 'score': 10.74}, {'connected_gene': 'FAM162A', 'score': 10.74}, {'connected_gene': 'PARP14', 'score': 9.79}, {'connected_gene': 'PARP9', 'score': 4.02}, {'connected_gene': 'DTX3L', 'score': 4.0}, {'connected_gene': 'DIRC2', 'score': 2.41}, {'connected_gene': 'CD86', 'score': 1.85}, {'connected_gene': 'KPNA1', 'score': 1.46}, {'connected_gene': 'HSPBAP1', 'score': 1.36}, {'connected_gene': 'HNRNPA1P23', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.12}]
chr3 GH03I122271 122271401 122271600 0.67 [{'connected_gene': 'CSTA', 'score': 10.73}, {'connected_gene': 'FAM162A', 'score': 10.29}, {'connected_gene': 'CCDC58', 'score': 10.29}, {'connected_gene': 'LOC102723582', 'score': 6.49}, {'connected_gene': 'HNRNPA1P23', 'score': 0.25}, {'connected_gene': 'CASR', 'score': 0.17}]
chr3 GH03I122356 122356142 122356153 0.35 [{'connected_gene': 'CSTA', 'score': 11.94}, {'connected_gene': 'FAM162A', 'score': 11.61}, {'connected_gene': 'CCDC58', 'score': 11.61}]
chr3 GH03I122314 122313429 122313581 0.42 [{'connected_gene': 'CSTA', 'score': 13.04}, {'connected_gene': 'CCDC58', 'score': 10.74}, {'connected_gene': 'FAM162A', 'score': 10.73}, {'connected_gene': 'PARP14', 'score': 8.53}, {'connected_gene': 'PARP9', 'score': 3.36}, {'connected_gene': 'DTX3L', 'score': 3.23}, {'connected_gene': 'DIRC2', 'score': 1.27}, {'connected_gene': 'KPNA1', 'score': 1.19}, {'connected_gene': 'HNRNPA1P23', 'score': 0.77}, {'connected_gene': 'CASR', 'score': 0.13}]
chr3 GH03I122268 122268783 122268872 0.68 [{'connected_gene': 'CSTA', 'score': 10.72}, {'connected_gene': 'CCDC58', 'score': 10.29}, {'connected_gene': 'FAM162A', 'score': 10.29}, {'connected_gene': 'WDR5B', 'score': 4.7}, {'connected_gene': 'CD86', 'score': 4.23}, {'connected_gene': 'HNRNPA1P23', 'score': 0.25}, {'connected_gene': 'CASR', 'score': 0.17}]
chr3 GH03I122485 122485001 122485201 0.69 [{'connected_gene': 'GC03P122484', 'score': 550.77}, {'connected_gene': 'WDR5B', 'score': 15.47}, {'connected_gene': 'KPNA1', 'score': 12.3}, {'connected_gene': 'GOLGB1', 'score': 11.44}, {'connected_gene': 'IQCB1', 'score': 11.12}, {'connected_gene': 'FAM162A', 'score': 10.27}, {'connected_gene': 'CCDC58', 'score': 10.27}]
chr3 GH03I122482 122482423 122483912 1.02 [{'connected_gene': 'ENSG00000275348', 'score': 550.77}, {'connected_gene': 'GC03P122484', 'score': 550.77}, {'connected_gene': 'WDR5B', 'score': 22.71}, {'connected_gene': 'LOC102723582', 'score': 17.09}, {'connected_gene': 'KPNA1', 'score': 12.39}, {'connected_gene': 'FAM162A', 'score': 10.28}, {'connected_gene': 'CCDC58', 'score': 10.28}]