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
ENST00000513982 [[166282345, 166282463], [166385541, 166385738], [166388839, 166389007], [166403393, 166403474]] [[166385570, 166385738], [166388839, 166389007], [166403393, 166403474]]
ENST00000402744 [[166300093, 166300680], [166385541, 166385738], [166388839, 166389007], [166403393, 166403511], [166405573, 166405756], [166408589, 166408729], [166414322, 166414422], [166416710, 166416829], [166418663, 166419472]] [[166300373, 166300680], [166385541, 166385738], [166388839, 166389007], [166403393, 166403511], [166405573, 166405756], [166408589, 166408729], [166414322, 166414422], [166416710, 166416829], [166418663, 166418762]]
ENST00000480404 [[166300437, 166300680], [166302432, 166302626]] [[166300437, 166300680], [166302432, 166302515]]
ENST00000431967 [[166336236, 166336398], [166385541, 166385738], [166388839, 166389007], [166403393, 166403499]] [[166385570, 166385738], [166388839, 166389007], [166403393, 166403499]]
ENST00000511992 [[166339377, 166339440], [166385541, 166385738], [166388839, 166389007], [166403393, 166403511], [166405573, 166405590]] [[166385570, 166385738], [166388839, 166389007], [166403393, 166403511], [166405573, 166405590]]
NM_001873 [[166300093, 166300680], [166385541, 166385738], [166388839, 166389007], [166403393, 166403511], [166405573, 166405756], [166408589, 166408729], [166414322, 166414422], [166416710, 166416829], [166418663, 166419699]] [[166300373, 166300680], [166385541, 166385738], [166388839, 166389007], [166403393, 166403511], [166405573, 166405756], [166408589, 166408729], [166414322, 166414422], [166416710, 166416829], [166418663, 166418762]]
Promoter
Chrom Start End Description
chr4 166299994 166300007 CAGE_peak_3_at_CPE_5end
chr4 166300084 166300091 CAGE_peak_8_at_CPE_5end
chr4 166300117 166300129 CAGE_peak_7_at_CPE_5end
chr4 166300153 166300168 CAGE_peak_2_at_CPE_5end
chr4 166300204 166300240 CAGE_peak_1_at_CPE_5end
chr4 166300251 166300262 CAGE_peak_5_at_CPE_5end
chr4 166300279 166300290 CAGE_peak_6_at_CPE_5end
chr4 166300312 166300323 CAGE_peak_4_at_CPE_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I165476 165476109 165477273 0.94 [{'connected_gene': 'TLL1', 'score': 10.59}, {'connected_gene': 'CPE', 'score': 6.57}, {'connected_gene': 'GC04P165491', 'score': 0.39}, {'connected_gene': 'GC04M165414', 'score': 0.23}]
chr4 GH04I165439 165439564 165441200 1.34 [{'connected_gene': 'MIR578', 'score': 10.73}, {'connected_gene': 'HADHAP1', 'score': 6.98}, {'connected_gene': 'CPE', 'score': 5.85}, {'connected_gene': 'FAM218A', 'score': 2.85}, {'connected_gene': 'GC04M165414', 'score': 0.37}, {'connected_gene': 'GC04P165491', 'score': 0.23}]
chr4 GH04I165394 165394582 165394755 0.34 [{'connected_gene': 'MIR578', 'score': 0.44}, {'connected_gene': 'HADHAP1', 'score': 0.39}, {'connected_gene': 'CPE', 'score': 0.29}]
chr4 GH04I165460 165460504 165462239 0.57 [{'connected_gene': 'MIR578', 'score': 10.89}, {'connected_gene': 'CPE', 'score': 5.94}, {'connected_gene': 'GC04P165491', 'score': 0.31}, {'connected_gene': 'GC04M165414', 'score': 0.28}]
chr4 GH04I165410 165410239 165410451 0.25 [{'connected_gene': 'MSMO1', 'score': 9.67}, {'connected_gene': 'CPE', 'score': 2.1}, {'connected_gene': 'FAM218A', 'score': 1.45}, {'connected_gene': 'HADHAP1', 'score': 0.77}, {'connected_gene': 'GC04M165414', 'score': 0.39}]
chr4 GH04I165323 165323078 165331128 2.49 [{'connected_gene': 'MSMO1', 'score': 550.77}, {'connected_gene': 'KLHL2', 'score': 39.23}, {'connected_gene': 'TMEM192', 'score': 10.87}, {'connected_gene': 'NACA3P', 'score': 10.44}, {'connected_gene': 'CPE', 'score': 5.18}, {'connected_gene': 'GC04M165293', 'score': 0.29}]
chr4 GH04I164961 164961151 164961472 0.27 [{'connected_gene': 'FAM218A', 'score': 7.46}, {'connected_gene': 'CPE', 'score': 2.68}, {'connected_gene': 'ENSG00000248632', 'score': 0.44}, {'connected_gene': 'TRIM61', 'score': 0.37}]
chr4 GH04I165378 165378257 165380338 1.96 [{'connected_gene': 'CPE', 'score': 550.37}, {'connected_gene': 'NACA3P', 'score': 12.63}, {'connected_gene': 'KLHL2', 'score': 11.55}, {'connected_gene': 'RPL21P51', 'score': 10.09}, {'connected_gene': 'GC04P165387', 'score': 0.44}]
chr4 GH04I165398 165398049 165398432 0.44 [{'connected_gene': 'CPE', 'score': 14.73}, {'connected_gene': 'HADHAP1', 'score': 0.44}, {'connected_gene': 'MIR578', 'score': 0.39}]
chr4 GH04I165501 165501270 165501532 0.24 [{'connected_gene': 'CPE', 'score': 6.31}, {'connected_gene': 'KLHL2', 'score': 1.17}, {'connected_gene': 'LOC105377520', 'score': 0.77}, {'connected_gene': 'GC04P165491', 'score': 0.39}]
chr4 GH04I165369 165369168 165371052 0.91 [{'connected_gene': 'CPE', 'score': 7.24}, {'connected_gene': 'KLHL2', 'score': 6.92}, {'connected_gene': 'GC04P165387', 'score': 0.37}]
chr4 GH04I165359 165359954 165360811 0.65 [{'connected_gene': 'CPE', 'score': 555.41}, {'connected_gene': 'LOC105377519', 'score': 0.39}]
chr4 GH04I165363 165363751 165365965 0.69 [{'connected_gene': 'KLHL2', 'score': 11.28}, {'connected_gene': 'CPE', 'score': 0.77}, {'connected_gene': 'GC04P165387', 'score': 0.34}]
chr4 GH04I165383 165383929 165384078 0.38 [{'connected_gene': 'GC04P165387', 'score': 0.77}, {'connected_gene': 'CPE', 'score': 0.34}]
chr4 GH04I165493 165493312 165493800 0.59 [{'connected_gene': 'GC04P165491', 'score': 0.77}, {'connected_gene': 'LOC105377520', 'score': 0.39}, {'connected_gene': 'CPE', 'score': 0.12}]