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
ENST00000367360 [[150238013, 150238210], [150239309, 150239520], [150240178, 150240460], [150240688, 150240952], [150244061, 150244214]] [[150238047, 150238210], [150239309, 150239520], [150240178, 150240460], [150240688, 150240952], [150244061, 150244146]]
ENST00000367361 [[150238048, 150238210], [150239309, 150239420], [150240178, 150240460], [150240688, 150240952], [150244061, 150244146]] [[150239409, 150239420], [150240178, 150240460], [150240688, 150240952], [150244061, 150244146]]
ENST00000479265 [[150239842, 150240460], [150240688, 150240952], [150244061, 150244257]] [[150240143, 150240460], [150240688, 150240952], [150244061, 150244146]]
NM_001001788 [[150238013, 150238210], [150239309, 150239520], [150240178, 150240460], [150240688, 150240952], [150244061, 150244288]] [[150238047, 150238210], [150239309, 150239520], [150240178, 150240460], [150240688, 150240952], [150244061, 150244146]]
NR_130110 [[150238013, 150238210], [150239309, 150239420], [150240178, 150240460], [150240688, 150240952], [150244061, 150244288]] None
Promoter
Chrom Start End Description
chr6 150244213 150244262 CAGE_peak_1_at_RAET1G_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I149470 149470711 149475449 1.32 [{'connected_gene': 'LATS1', 'score': 31.04}, {'connected_gene': 'PPIL4', 'score': 24.07}, {'connected_gene': 'NUP43', 'score': 15.3}, {'connected_gene': 'RPS18P9', 'score': 13.6}, {'connected_gene': 'KATNA1', 'score': 10.67}, {'connected_gene': 'ENSG00000233330', 'score': 10.58}, {'connected_gene': 'ENSG00000231760', 'score': 7.38}, {'connected_gene': 'GINM1', 'score': 5.38}, {'connected_gene': 'RAET1G', 'score': 4.78}, {'connected_gene': 'ZC3H12D', 'score': 0.39}, {'connected_gene': 'SUMO4', 'score': 0.19}, {'connected_gene': 'GC06P149237', 'score': 0.07}]
chr6 GH06I149922 149922600 149923401 1.83 [{'connected_gene': 'RAET1G', 'score': 550.77}, {'connected_gene': 'RAET1E', 'score': 15.43}, {'connected_gene': 'LATS1', 'score': 11.72}, {'connected_gene': 'RAET1F', 'score': 0.39}]
chr6 GH06I150864 150864409 150868512 2.27 [{'connected_gene': 'MTHFD1L', 'score': 550.77}, {'connected_gene': 'AKAP12', 'score': 10.1}, {'connected_gene': 'ENSG00000216906', 'score': 10.03}, {'connected_gene': 'RAET1G', 'score': 4.47}, {'connected_gene': 'ARL4AP5', 'score': 0.2}]
chr6 GH06I150266 150266226 150274512 1.69 [{'connected_gene': 'LOC105378054', 'score': 550.77}, {'connected_gene': 'LATS1', 'score': 58.29}, {'connected_gene': 'NUP43', 'score': 48.07}, {'connected_gene': 'PPIL4', 'score': 36.89}, {'connected_gene': 'ENSG00000231760', 'score': 22.3}, {'connected_gene': 'KATNA1', 'score': 20.14}, {'connected_gene': 'RNU4-7P', 'score': 11.41}, {'connected_gene': 'ENSG00000238594', 'score': 10.55}, {'connected_gene': 'ENSG00000233330', 'score': 10.51}, {'connected_gene': 'PPP1R14C', 'score': 9.08}, {'connected_gene': 'RAET1G', 'score': 2.61}, {'connected_gene': 'GC06M150327', 'score': 0.22}, {'connected_gene': 'GC06M150158', 'score': 0.16}]
chr6 GH06I149934 149934285 149934454 0.89 [{'connected_gene': 'LOC105378052', 'score': 550.77}, {'connected_gene': 'LATS1', 'score': 21.23}, {'connected_gene': 'RPS18P9', 'score': 10.01}, {'connected_gene': 'RAET1G', 'score': 0.39}]
chr6 GH06I150250 150250413 150258403 1.64 [{'connected_gene': 'ENSG00000268592', 'score': 15.94}, {'connected_gene': 'NUP43', 'score': 15.55}, {'connected_gene': 'ENSG00000216906', 'score': 15.04}, {'connected_gene': 'PPIL4', 'score': 13.33}, {'connected_gene': 'ENSG00000231760', 'score': 12.72}, {'connected_gene': 'KATNA1', 'score': 11.45}, {'connected_gene': 'LRP11', 'score': 11.34}, {'connected_gene': 'LATS1', 'score': 11.33}, {'connected_gene': 'ENSG00000238594', 'score': 11.3}, {'connected_gene': 'PPP1R14C', 'score': 10.82}, {'connected_gene': 'RAET1G', 'score': 3.97}, {'connected_gene': 'ULBP2', 'score': 1.63}, {'connected_gene': 'RAET1L', 'score': 1.25}, {'connected_gene': 'LOC105378054', 'score': 0.37}, {'connected_gene': 'GC06M150158', 'score': 0.14}]
chr6 GH06I149925 149925200 149926914 1.2 [{'connected_gene': 'ENSG00000231760', 'score': 15.63}, {'connected_gene': 'ENSG00000216906', 'score': 6.68}, {'connected_gene': 'RAET1E', 'score': 5.87}, {'connected_gene': 'RAET1G', 'score': 0.77}, {'connected_gene': 'LOC105378052', 'score': 0.44}]