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
ENST00000373861 [[35748793, 35748986], [35754774, 35754897], [35755643, 35755929]] [[35748887, 35748986], [35754774, 35754897], [35755643, 35755787]]
ENST00000542261 [[35748820, 35748986], [35754774, 35754897], [35755643, 35755929]] [[35748890, 35748986], [35754774, 35754897], [35755643, 35755787]]
ENST00000428710 [[35754816, 35754897], [35761264, 35761452]] [[35754816, 35754897], [35761264, 35761312]]
NM_001010886 [[35748830, 35748986], [35754774, 35754897], [35755643, 35755841]] [[35748887, 35748986], [35754774, 35754897], [35755643, 35755787]]
Promoter
Chrom Start End Description
chr6 35748783 35748831 CAGE_peak_1_at_C6orf127_5end
chr6 35754575 35754599 CAGE_peak_2_at_C6orf127_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I035776 35776284 35776991 1.83 [{'connected_gene': 'CLPSL2', 'score': 558.92}, {'connected_gene': 'CLPS', 'score': 12.19}, {'connected_gene': 'ENSG00000232909', 'score': 10.54}, {'connected_gene': 'ARMC12', 'score': 10.52}, {'connected_gene': 'FKBP5', 'score': 10.51}, {'connected_gene': 'CLPSL1', 'score': 0.77}, {'connected_gene': 'GC06M038606', 'score': 0.15}]
chr6 GH06I035780 35780983 35781042 0.5 [{'connected_gene': 'CLPSL1', 'score': 550.77}, {'connected_gene': 'CLPSL2', 'score': 0.77}, {'connected_gene': 'GC06M038606', 'score': 0.16}]
chr6 GH06I035796 35796921 35796980 0.68 [{'connected_gene': 'LHFPL5', 'score': 550.77}, {'connected_gene': 'CLPS', 'score': 550.77}, {'connected_gene': 'CLPSL2', 'score': 7.76}, {'connected_gene': 'SRPK1', 'score': 5.99}, {'connected_gene': 'CLPSL1', 'score': 0.37}, {'connected_gene': 'GC06M038606', 'score': 0.18}]
chr6 GH06I035797 35797313 35797372 0.86 [{'connected_gene': 'LHFPL5', 'score': 550.77}, {'connected_gene': 'CLPS', 'score': 550.77}, {'connected_gene': 'CLPSL1', 'score': 0.37}, {'connected_gene': 'GC06M038606', 'score': 0.18}]