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
ENST00000540654 [[62703856, 62703958], [62744655, 62744859], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751496], [62751793, 62752296]] [[62748843, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751496], [62751793, 62752162]]
ENST00000360421 [[62744068, 62744353], [62744655, 62744859], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751519], [62751793, 62752455]] [[62744265, 62744353], [62744655, 62744859], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751519], [62751793, 62752162]]
ENST00000377871 [[62744073, 62744353], [62744616, 62744859], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751519], [62751793, 62752429]] [[62744265, 62744353], [62744616, 62744859], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751519], [62751793, 62752162]]
ENST00000421062 [[62744265, 62744353], [62744616, 62744727], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751519], [62751793, 62752162]] [[62744265, 62744353], [62744616, 62744727], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751519], [62751793, 62752162]]
ENST00000458333 [[62744265, 62744353], [62744655, 62744727], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751519], [62751793, 62752162]] [[62744265, 62744353], [62744655, 62744727], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751519], [62751793, 62752162]]
ENST00000537349 [[62747339, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751241, 62751364]] None
NM_004790 [[62744068, 62744353], [62744616, 62744859], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751519], [62751793, 62752495]] [[62744265, 62744353], [62744616, 62744859], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751519], [62751793, 62752162]]
NM_153276 [[62744068, 62744353], [62744655, 62744859], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751519], [62751793, 62752495]] [[62744265, 62744353], [62744655, 62744859], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751519], [62751793, 62752162]]
NM_153278 [[62744068, 62744353], [62744616, 62744727], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751519], [62751793, 62752495]] [[62744265, 62744353], [62744616, 62744727], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751519], [62751793, 62752162]]
NM_153277 [[62744068, 62744353], [62744655, 62744727], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751519], [62751793, 62752495]] [[62744265, 62744353], [62744655, 62744727], [62746959, 62747068], [62747205, 62747420], [62748456, 62748572], [62748731, 62748855], [62749313, 62749482], [62751008, 62751163], [62751415, 62751519], [62751793, 62752162]]
Promoter
Chrom Start End Description
chr11 62752220 62752231 CAGE_peak_4_at_SLC22A6_5end
chr11 62752254 62752272 CAGE_peak_2_at_SLC22A6_5end
chr11 62752284 62752304 CAGE_peak_3_at_SLC22A6_5end
chr11 62752310 62752313 CAGE_peak_7_at_SLC22A6_5end
chr11 62752432 62752445 CAGE_peak_1_at_SLC22A6_5end
chr11 62752463 62752474 CAGE_peak_5_at_SLC22A6_5end
chr11 62752484 62752495 CAGE_peak_6_at_SLC22A6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I062906 62906049 62906238 1.05 [{'connected_gene': 'SLC22A6', 'score': 11.0}, {'connected_gene': 'TMEM223', 'score': 4.4}, {'connected_gene': 'ENSG00000257002', 'score': 0.77}, {'connected_gene': 'GC11P062886', 'score': 0.37}]
chr11 GH11I062925 62925749 62925858 0.43 [{'connected_gene': 'SLC22A6', 'score': 10.89}, {'connected_gene': 'CHRM1', 'score': 0.77}, {'connected_gene': 'GC11P062933', 'score': 0.44}, {'connected_gene': 'LOC105369333', 'score': 0.44}]
chr11 GH11I062923 62923835 62923938 0.49 [{'connected_gene': 'SLC22A6', 'score': 10.88}, {'connected_gene': 'LOC105369333', 'score': 0.77}, {'connected_gene': 'CHRM1', 'score': 0.77}, {'connected_gene': 'GC11P062933', 'score': 0.44}]
chr11 GH11I062975 62975229 62975418 0.67 [{'connected_gene': 'SLC22A6', 'score': 0.44}, {'connected_gene': 'GC11P062953', 'score': 0.34}]
chr11 GH11I062985 62984957 62985016 0.5 [{'connected_gene': 'SLC22A6', 'score': 550.77}, {'connected_gene': 'GC11P062953', 'score': 0.29}]
chr11 GH11I062984 62984779 62984838 0.5 [{'connected_gene': 'SLC22A6', 'score': 550.77}, {'connected_gene': 'GC11P062953', 'score': 0.29}]
chr11 GH11I062958 62958192 62960063 0.8 [{'connected_gene': 'BSCL2', 'score': 12.26}, {'connected_gene': 'GC11P062953', 'score': 0.44}, {'connected_gene': 'SLC22A6', 'score': 0.31}]
chr11 GH11I062887 62887744 62891774 1.38 [{'connected_gene': 'BSCL2', 'score': 39.46}, {'connected_gene': 'TAF6L', 'score': 23.65}, {'connected_gene': 'SLC3A2', 'score': 10.87}, {'connected_gene': 'SNHG1', 'score': 10.87}, {'connected_gene': 'SNORD28', 'score': 10.85}, {'connected_gene': 'TUT1', 'score': 10.78}, {'connected_gene': 'SNORD22', 'score': 10.67}, {'connected_gene': 'SLC22A6', 'score': 10.1}, {'connected_gene': 'AHNAK', 'score': 9.47}, {'connected_gene': 'TTC9C', 'score': 5.85}, {'connected_gene': 'TMEM223', 'score': 5.21}, {'connected_gene': 'GC11P062886', 'score': 0.77}, {'connected_gene': 'ENSG00000257002', 'score': 0.37}]
chr11 GH11I062922 62922046 62922535 0.89 [{'connected_gene': 'CHRM1', 'score': 550.77}, {'connected_gene': 'SLC22A6', 'score': 10.88}, {'connected_gene': 'LOC105369333', 'score': 0.77}, {'connected_gene': 'GC11P062933', 'score': 0.39}]
chr11 GH11I062927 62922779 62922917 0.48 [{'connected_gene': 'CHRM1', 'score': 550.77}, {'connected_gene': 'SLC22A6', 'score': 10.88}, {'connected_gene': 'LOC105369333', 'score': 0.77}, {'connected_gene': 'GC11P062933', 'score': 0.39}]