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
ENST00000320578 [[107799228, 107799521], [107832671, 107834208]] [[107799294, 107799521], [107832671, 107833098]]
NM_017516 [[107799200, 107799521], [107832671, 107834208]] [[107799294, 107799521], [107832671, 107833098]]
Promoter
Chrom Start End Description
chr11 107799118 107799197 CAGE_peak_1_at_RAB39A_5end
chr11 107799268 107799291 CAGE_peak_4_at_RAB39A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I107988 107988410 107988782 0.57 [{'connected_gene': 'CUL5', 'score': 12.13}, {'connected_gene': 'RAB39A', 'score': 0.21}]
chr11 GH11I107989 107988947 107989005 0.27 [{'connected_gene': 'CUL5', 'score': 0.37}, {'connected_gene': 'RAB39A', 'score': 0.21}]
chr11 GH11I107975 107975432 107975450 0.24 [{'connected_gene': 'CUL5', 'score': 0.29}, {'connected_gene': 'RAB39A', 'score': 0.25}]
chr11 GH11I107991 107991797 107992313 0.2 [{'connected_gene': 'ACAT1', 'score': 11.47}, {'connected_gene': 'CUL5', 'score': 0.37}, {'connected_gene': 'RAB39A', 'score': 0.21}]
chr11 GH11I107948 107948097 107948905 0.31 [{'connected_gene': 'ACAT1', 'score': 4.24}, {'connected_gene': 'RAB39A', 'score': 0.34}, {'connected_gene': 'CUL5', 'score': 0.21}]
chr11 GH11I107999 107999915 108000064 0.62 [{'connected_gene': 'ACAT1', 'score': 10.66}, {'connected_gene': 'ENSG00000255467', 'score': 10.66}, {'connected_gene': 'DDX10', 'score': 10.5}, {'connected_gene': 'CUL5', 'score': 0.44}, {'connected_gene': 'RAB39A', 'score': 0.19}]
chr11 GH11I107957 107957032 107957800 0.9 [{'connected_gene': 'SLN', 'score': 4.36}, {'connected_gene': 'ELMOD1', 'score': 4.15}, {'connected_gene': 'RAB39A', 'score': 0.31}, {'connected_gene': 'CUL5', 'score': 0.23}]
chr11 GH11I107929 107929875 107930036 0.46 [{'connected_gene': 'RAB39A', 'score': 550.77}, {'connected_gene': 'SLC35F2', 'score': 550.77}, {'connected_gene': 'CUL5', 'score': 0.18}]
chr11 GH11I107882 107882175 107882324 0.46 [{'connected_gene': 'RAB39A', 'score': 11.29}, {'connected_gene': 'SLC35F2', 'score': 11.29}, {'connected_gene': 'SLN', 'score': 10.12}, {'connected_gene': 'RPLP2P3', 'score': 0.31}, {'connected_gene': 'LOC203930', 'score': 0.11}]
chr11 GH11I107927 107927601 107929601 1.96 [{'connected_gene': 'SLC35F2', 'score': 556.71}, {'connected_gene': 'RAB39A', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 34.06}, {'connected_gene': 'CWF19L2', 'score': 19.15}, {'connected_gene': 'CUL5', 'score': 10.34}, {'connected_gene': 'ALKBH8', 'score': 10.02}, {'connected_gene': 'DDX10', 'score': 9.91}, {'connected_gene': 'ASS1P13', 'score': 5.39}]