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
ENST00000367559 [[182542768, 182544713], [182545390, 182545524], [182550359, 182550492], [182551187, 182551393], [182553215, 182553301], [182554461, 182556105], [182558301, 182558391]] [[182544526, 182544713], [182545390, 182545524], [182550359, 182550492], [182551187, 182551393], [182553215, 182553301], [182554461, 182555941]]
ENST00000444138 [[182542771, 182544713], [182545390, 182545524], [182550359, 182550492], [182551187, 182551393], [182553215, 182553301], [182554461, 182556108]] [[182544526, 182544713], [182545390, 182545524], [182550359, 182550492], [182551187, 182551393], [182553215, 182553301], [182554461, 182555941]]
ENST00000539397 [[182547255, 182549142], [182550359, 182550492], [182551187, 182551393], [182553215, 182553301], [182554461, 182556105], [182558301, 182558391]] [[182549088, 182549142], [182550359, 182550492], [182551187, 182551393], [182553215, 182553301], [182554461, 182555941]]
NM_021133 [[182542768, 182544713], [182545390, 182545524], [182550359, 182550492], [182551187, 182551393], [182553215, 182553301], [182554461, 182556105], [182558301, 182558394]] [[182544526, 182544713], [182545390, 182545524], [182550359, 182550492], [182551187, 182551393], [182553215, 182553301], [182554461, 182555941]]
Promoter
Chrom Start End Description
chr1 182555706 182555724 CAGE_peak_4_at_RNASEL_5end
chr1 182558343 182558371 CAGE_peak_2_at_RNASEL_5end
chr1 182558374 182558403 CAGE_peak_1_at_RNASEL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I183469 183469707 183473909 2.37 [{'connected_gene': 'SMG7', 'score': 580.95}, {'connected_gene': 'SMG7-AS1', 'score': 567.89}, {'connected_gene': 'DHX9', 'score': 178.51}, {'connected_gene': 'LAMC1-AS1', 'score': 75.11}, {'connected_gene': 'HMGN1P4', 'score': 47.24}, {'connected_gene': 'ENSG00000271387', 'score': 20.32}, {'connected_gene': 'LAMC1', 'score': 18.5}, {'connected_gene': 'RNASEL', 'score': 10.4}, {'connected_gene': 'LAMC2', 'score': 10.22}, {'connected_gene': 'NCF2', 'score': 5.31}, {'connected_gene': 'LOC105371646', 'score': 0.28}]
chr1 GH01I182608 182608475 182609964 0.7 [{'connected_gene': 'RNASEL', 'score': 6.74}, {'connected_gene': 'RGS16', 'score': 0.77}, {'connected_gene': 'LINC01686', 'score': 0.44}]
chr1 GH01I182599 182599446 182599595 0.43 [{'connected_gene': 'RNASEL', 'score': 20.77}, {'connected_gene': 'GC01M182527', 'score': 0.77}, {'connected_gene': 'RGS16', 'score': 0.77}]
chr1 GH01I182587 182587661 182589896 2.15 [{'connected_gene': 'RNASEL', 'score': 578.36}, {'connected_gene': 'DHX9', 'score': 24.29}, {'connected_gene': 'NPL', 'score': 11.28}, {'connected_gene': 'GC01M182527', 'score': 0.44}, {'connected_gene': 'ENSG00000276839', 'score': 0.39}]
chr1 GH01I182600 182600966 182604995 2.43 [{'connected_gene': 'RGS16', 'score': 550.77}, {'connected_gene': 'DHX9', 'score': 33.72}, {'connected_gene': 'RNASEL', 'score': 23.09}, {'connected_gene': 'LAMC1-AS1', 'score': 21.83}, {'connected_gene': 'HMGN1P4', 'score': 14.69}, {'connected_gene': 'LAMC1', 'score': 11.35}, {'connected_gene': 'LAMC2', 'score': 10.19}, {'connected_gene': 'GC01M182527', 'score': 0.44}]
chr1 GH01I182586 182586201 182586600 0.8 [{'connected_gene': 'RGSL1', 'score': 10.4}, {'connected_gene': 'RNASEL', 'score': 0.77}, {'connected_gene': 'GC01M182527', 'score': 0.44}, {'connected_gene': 'ENSG00000276839', 'score': 0.44}]
chr1 GH01I182394 182394286 182394558 1.03 [{'connected_gene': 'GLUL', 'score': 10.07}, {'connected_gene': 'NPL', 'score': 4.0}, {'connected_gene': 'RNASEL', 'score': 3.36}, {'connected_gene': 'TEDDM1', 'score': 0.44}]
chr1 GH01I182170 182170601 182171800 1.28 [{'connected_gene': 'GLUL', 'score': 1.42}, {'connected_gene': 'RNASEL', 'score': 1.39}, {'connected_gene': 'GC01M182183', 'score': 0.39}, {'connected_gene': 'ENSG00000232309', 'score': 0.26}, {'connected_gene': 'LINC01344', 'score': 0.11}]
chr1 GH01I182388 182388321 182393358 2.28 [{'connected_gene': 'GLUL', 'score': 556.48}, {'connected_gene': 'DHX9', 'score': 57.9}, {'connected_gene': 'HMGN1P4', 'score': 36.02}, {'connected_gene': 'LAMC1-AS1', 'score': 22.64}, {'connected_gene': 'RNASEL', 'score': 19.55}, {'connected_gene': 'LAMC2', 'score': 10.18}, {'connected_gene': 'TEDDM1', 'score': 5.54}, {'connected_gene': 'EIF1P3', 'score': 0.23}]
chr1 GH01I182173 182173634 182176095 1.49 [{'connected_gene': 'GLUL', 'score': 12.1}, {'connected_gene': 'TEDDM1', 'score': 11.06}, {'connected_gene': 'RPL18P2', 'score': 10.61}, {'connected_gene': 'RNU6-152P', 'score': 10.61}, {'connected_gene': 'RNASEL', 'score': 2.12}, {'connected_gene': 'GC01M182183', 'score': 0.44}, {'connected_gene': 'ENSG00000232309', 'score': 0.25}, {'connected_gene': 'LINC01344', 'score': 0.12}]
chr1 GH01I182142 182142723 182150571 1.77 [{'connected_gene': 'GLUL', 'score': 18.3}, {'connected_gene': 'TEDDM1', 'score': 12.01}, {'connected_gene': 'RPL18P2', 'score': 9.89}, {'connected_gene': 'RNU6-152P', 'score': 9.89}, {'connected_gene': 'RGS16', 'score': 9.67}, {'connected_gene': 'RGSL1', 'score': 9.59}, {'connected_gene': 'RNASEL', 'score': 6.0}, {'connected_gene': 'ENSG00000232309', 'score': 0.37}, {'connected_gene': 'GC01M182183', 'score': 0.28}, {'connected_gene': 'LINC01344', 'score': 0.1}]
chr1 GH01I182193 182193960 182194401 0.81 [{'connected_gene': 'GLUL', 'score': 13.01}, {'connected_gene': 'RPL18P2', 'score': 10.45}, {'connected_gene': 'RNU6-152P', 'score': 10.45}, {'connected_gene': 'TEDDM1', 'score': 10.35}, {'connected_gene': 'RNASEL', 'score': 1.3}, {'connected_gene': 'YPEL5P1', 'score': 0.39}, {'connected_gene': 'LINC01344', 'score': 0.13}]
chr1 GH01I182838 182838607 182842092 2.09 [{'connected_gene': 'DHX9', 'score': 589.46}, {'connected_gene': 'LOC647070', 'score': 550.77}, {'connected_gene': 'HMGN1P4', 'score': 11.51}, {'connected_gene': 'RNASEL', 'score': 10.86}, {'connected_gene': 'GC01P182890', 'score': 0.25}, {'connected_gene': 'GC01M182794', 'score': 0.21}]
chr1 GH01I182793 182793856 182796348 1.38 [{'connected_gene': 'DHX9', 'score': 10.81}, {'connected_gene': 'GLUL', 'score': 7.53}, {'connected_gene': 'KRT18P28', 'score': 6.5}, {'connected_gene': 'RNASEL', 'score': 6.09}, {'connected_gene': 'NPL', 'score': 6.05}, {'connected_gene': 'GC01P182831', 'score': 0.28}, {'connected_gene': 'GC01M182794', 'score': 0.14}]
chr1 GH01I182257 182257602 182260883 1.65 [{'connected_gene': 'DHX9', 'score': 14.09}, {'connected_gene': 'GLUL', 'score': 12.92}, {'connected_gene': 'LAMC1-AS1', 'score': 12.71}, {'connected_gene': 'TEDDM1', 'score': 11.24}, {'connected_gene': 'RPL18P2', 'score': 10.84}, {'connected_gene': 'RNU6-152P', 'score': 10.84}, {'connected_gene': 'RNASEL', 'score': 2.05}, {'connected_gene': 'LINC01344', 'score': 0.23}, {'connected_gene': 'YPEL5P1', 'score': 0.18}]
chr1 GH01I182594 182594766 182594915 0.46 [{'connected_gene': 'GC01M182527', 'score': 550.77}, {'connected_gene': 'NPL', 'score': 10.66}, {'connected_gene': 'RNASEL', 'score': 0.44}]
chr1 GH01I182084 182084201 182085813 1.2 [{'connected_gene': 'ENSG00000225982', 'score': 550.77}, {'connected_gene': 'DHX9', 'score': 14.35}, {'connected_gene': 'HMGN1P4', 'score': 13.64}, {'connected_gene': 'TEDDM1', 'score': 11.48}, {'connected_gene': 'GLUL', 'score': 10.93}, {'connected_gene': 'RNASEL', 'score': 10.41}, {'connected_gene': 'RGSL1', 'score': 9.85}, {'connected_gene': 'NPL', 'score': 9.35}, {'connected_gene': 'ENSG00000224810', 'score': 0.37}]