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
ENST00000336395 [[35605366, 35605835], [35605980, 35606102], [35606233, 35606282], [35606833, 35606980], [35607323, 35607406], [35607578, 35607669], [35607924, 35608008], [35608156, 35608246], [35608391, 35608506], [35608858, 35610029]] [[35605616, 35605835], [35605980, 35606102], [35606233, 35606282], [35606833, 35606980], [35607323, 35607406], [35607578, 35607669], [35607924, 35608008], [35608156, 35608246], [35608391, 35608506], [35608858, 35609739]]
ENST00000498522 [[35605487, 35605835], [35605980, 35606102], [35606233, 35606282], [35606833, 35606980], [35607578, 35607669], [35607924, 35608008], [35608156, 35608246], [35608391, 35608506], [35608858, 35610038]] None
ENST00000467424 [[35606968, 35607406], [35607578, 35607669], [35607924, 35608008], [35608156, 35608279]] None
ENST00000463897 [[35607221, 35607669], [35607924, 35608008], [35608156, 35608224]] None
ENST00000480077 [[35607662, 35608008], [35608156, 35608246], [35608391, 35608432]] None
NM_001318230 [[35605280, 35605835], [35605980, 35606102], [35606233, 35606282], [35606833, 35606980], [35607578, 35607669], [35607924, 35608008], [35608156, 35608246], [35608391, 35608506], [35608858, 35610038]] [[35606840, 35606980], [35607578, 35607669], [35607924, 35608008], [35608156, 35608246], [35608391, 35608506], [35608858, 35609739]]
NM_006285 [[35605280, 35605835], [35605980, 35606102], [35606233, 35606282], [35606833, 35606980], [35607323, 35607406], [35607578, 35607669], [35607924, 35608008], [35608156, 35608246], [35608391, 35608506], [35608858, 35610038]] [[35605616, 35605835], [35605980, 35606102], [35606233, 35606282], [35606833, 35606980], [35607323, 35607406], [35607578, 35607669], [35607924, 35608008], [35608156, 35608246], [35608391, 35608506], [35608858, 35609739]]
Promoter
Chrom Start End Description
chr9 35605231 35605272 CAGE_peak_1_at_TESK1_5end
chr9 35605274 35605341 CAGE_peak_2_at_TESK1_5end
chr9 35608873 35608877 CAGE_peak_4_at_TESK1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I035608 35608280 35610641 0.38 [{'connected_gene': 'MIR4667', 'score': 550.77}, {'connected_gene': 'CCDC107', 'score': 12.15}, {'connected_gene': 'RN7SL22P', 'score': 12.11}, {'connected_gene': 'ARHGEF39', 'score': 12.1}, {'connected_gene': 'SIT1', 'score': 11.61}, {'connected_gene': 'FAM166B', 'score': 11.03}, {'connected_gene': 'CA9', 'score': 10.84}, {'connected_gene': 'TLN1', 'score': 10.72}, {'connected_gene': 'CREB3', 'score': 10.72}, {'connected_gene': 'GBA2', 'score': 10.71}, {'connected_gene': 'CD72', 'score': 7.19}, {'connected_gene': 'TESK1', 'score': 0.77}, {'connected_gene': 'ENSG00000231393', 'score': 0.29}]
chr9 GH09I035602 35602843 35606431 2.39 [{'connected_gene': 'GC09M035603', 'score': 550.77}, {'connected_gene': 'TESK1', 'score': 550.77}, {'connected_gene': 'CD72', 'score': 23.9}, {'connected_gene': 'ENSG00000231393', 'score': 12.44}, {'connected_gene': 'LOC101926948', 'score': 12.43}, {'connected_gene': 'CCDC107', 'score': 11.24}, {'connected_gene': 'RN7SL22P', 'score': 11.21}, {'connected_gene': 'ARHGEF39', 'score': 11.2}, {'connected_gene': 'VCP', 'score': 10.81}, {'connected_gene': 'RUSC2', 'score': 9.26}, {'connected_gene': 'TMEM8B', 'score': 8.91}, {'connected_gene': 'SPAG8', 'score': 8.21}, {'connected_gene': 'FAM221B', 'score': 6.85}, {'connected_gene': 'ENSG00000227388', 'score': 4.68}, {'connected_gene': 'GBA2', 'score': 2.06}, {'connected_gene': 'RECK', 'score': 1.34}, {'connected_gene': 'RPS29P17', 'score': 0.39}]