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
ENST00000258083 [[73455133, 73455702], [73455922, 73456090], [73456588, 73456698], [73457240, 73457341], [73460221, 73460356]] [[73455581, 73455702], [73455922, 73456090], [73456588, 73456698], [73457240, 73457341], [73460221, 73460288]]
ENST00000480093 [[73455458, 73455702], [73456588, 73456698], [73457240, 73457341], [73460221, 73460366]] None
ENST00000470391 [[73456926, 73457341], [73460221, 73460357]] None
NM_032319 [[73455133, 73455702], [73455922, 73456090], [73456588, 73456698], [73457240, 73457341], [73460221, 73460412]] [[73455581, 73455702], [73455922, 73456090], [73456588, 73456698], [73457240, 73457341], [73460221, 73460288]]
NR_144358 [[73455133, 73455702], [73455922, 73456068], [73456588, 73456698], [73457240, 73457341], [73460221, 73460412]] None
Promoter
Chrom Start End Description
chr2 73460334 73460405 CAGE_peak_1_at_PRADC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I073202 73202032 73203713 0.54 [{'connected_gene': 'NOTO', 'score': 550.77}, {'connected_gene': 'PRADC1', 'score': 11.85}, {'connected_gene': 'SMYD5', 'score': 6.73}, {'connected_gene': 'GC02P073186', 'score': 0.37}]
chr2 GH02I073156 73156332 73157229 1.02 [{'connected_gene': 'RAB11FIP5', 'score': 550.77}, {'connected_gene': 'DUSP11', 'score': 12.29}, {'connected_gene': 'ENSG00000273245', 'score': 11.7}, {'connected_gene': 'PRADC1', 'score': 9.58}, {'connected_gene': 'SFXN5', 'score': 4.44}, {'connected_gene': 'GC02P073186', 'score': 0.31}]
chr2 GH02I073232 73232406 73236260 2.12 [{'connected_gene': 'CCT7', 'score': 579.47}, {'connected_gene': 'PRADC1', 'score': 561.49}, {'connected_gene': 'DUSP11', 'score': 64.74}, {'connected_gene': 'ENSG00000273245', 'score': 63.52}, {'connected_gene': 'MOB1A', 'score': 30.39}, {'connected_gene': 'FBXO41', 'score': 12.52}, {'connected_gene': 'TPRKB', 'score': 12.37}, {'connected_gene': 'ALMS1', 'score': 11.03}, {'connected_gene': 'DGUOK-AS1', 'score': 10.15}, {'connected_gene': 'PIR47890', 'score': 0.44}]
chr2 GH02I073212 73212513 73213203 0.82 [{'connected_gene': 'SMYD5', 'score': 550.77}, {'connected_gene': 'PRADC1', 'score': 20.15}, {'connected_gene': 'CCT7', 'score': 17.49}, {'connected_gene': 'RAB11FIP5', 'score': 10.7}, {'connected_gene': 'SFXN5', 'score': 10.16}, {'connected_gene': 'SPR', 'score': 10.0}, {'connected_gene': 'NOTO', 'score': 0.39}]
chr2 GH02I073213 73213336 73215768 2.06 [{'connected_gene': 'SMYD5', 'score': 560.54}, {'connected_gene': 'PRADC1', 'score': 12.55}, {'connected_gene': 'CCT7', 'score': 5.3}]
chr2 GH02I073218 73218393 73218542 0.2 [{'connected_gene': 'SMYD5', 'score': 0.77}, {'connected_gene': 'PRADC1', 'score': 0.39}]
chr2 GH02I073175 73175043 73178265 1.56 [{'connected_gene': 'SMYD5', 'score': 21.01}, {'connected_gene': 'ALMS1', 'score': 14.1}, {'connected_gene': 'DUSP11', 'score': 13.27}, {'connected_gene': 'SFXN5', 'score': 12.86}, {'connected_gene': 'PRADC1', 'score': 11.86}, {'connected_gene': 'NOTO', 'score': 11.63}, {'connected_gene': 'SPR', 'score': 11.18}, {'connected_gene': 'ENSG00000273245', 'score': 11.14}, {'connected_gene': 'EMX1', 'score': 10.46}, {'connected_gene': 'CCT7', 'score': 5.09}, {'connected_gene': 'EGR4', 'score': 1.45}, {'connected_gene': 'GC02P073186', 'score': 0.44}, {'connected_gene': 'RAB11FIP5', 'score': 0.37}]
chr2 GH02I073191 73191133 73192599 0.79 [{'connected_gene': 'SMYD5', 'score': 21.9}, {'connected_gene': 'RAB11FIP5', 'score': 11.24}, {'connected_gene': 'PRADC1', 'score': 11.02}, {'connected_gene': 'SFXN5', 'score': 10.97}, {'connected_gene': 'SPR', 'score': 9.87}, {'connected_gene': 'EMX1', 'score': 9.82}, {'connected_gene': 'CCT7', 'score': 4.99}, {'connected_gene': 'GC02P073186', 'score': 0.44}, {'connected_gene': 'NOTO', 'score': 0.39}]
chr2 GH02I073244 73244144 73244728 0.65 [{'connected_gene': 'SMYD5', 'score': 12.04}, {'connected_gene': 'FBXO41', 'score': 11.57}, {'connected_gene': 'PRADC1', 'score': 8.0}, {'connected_gene': 'PIR47890', 'score': 0.77}, {'connected_gene': 'CCT7', 'score': 0.39}]