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
ENST00000395535 [[54819942, 54820113], [54823471, 54823574], [54825187, 54825287], [54826854, 54826939]] [[54820103, 54820113], [54823471, 54823574], [54825187, 54825281]]
ENST00000352861 [[54819943, 54820113], [54823471, 54823574], [54825187, 54825287], [54826850, 54826939]] [[54820103, 54820113], [54823471, 54823574], [54825187, 54825281]]
ENST00000415949 [[54819945, 54820113], [54823471, 54823574], [54825187, 54825287], [54826850, 54827027], [54827483, 54827667]] [[54820103, 54820113], [54823471, 54823574], [54825187, 54825281]]
ENST00000450622 [[54819949, 54820113], [54823471, 54823574], [54825187, 54825287], [54826730, 54826875]] [[54820103, 54820113], [54823471, 54823574], [54825187, 54825281]]
ENST00000460484 [[54822484, 54823574], [54825187, 54825287], [54826854, 54826891]] None
ENST00000480303 [[54823097, 54823574], [54825187, 54825287], [54826850, 54826934]] None
ENST00000461536 [[54823195, 54823574], [54826850, 54826908]] None
NM_014302 [[54819939, 54820113], [54823471, 54823574], [54825187, 54825287], [54826850, 54826939]] [[54820103, 54820113], [54823471, 54823574], [54825187, 54825281]]
NM_001012456 [[54819939, 54820113], [54823471, 54823574], [54825187, 54825287], [54826854, 54826939]] [[54820103, 54820113], [54823471, 54823574], [54825187, 54825281]]
Promoter
Chrom Start End Description
chr7 54826869 54826880 CAGE_peak_3_at_SEC61G_5end
chr7 54826882 54826913 CAGE_peak_1_at_SEC61G_5end
chr7 54826920 54826933 CAGE_peak_2_at_SEC61G_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I055688 55688162 55690191 0.63 [{'connected_gene': 'PSPHP1', 'score': 9.36}, {'connected_gene': 'SEC61G', 'score': 4.74}, {'connected_gene': 'RNU6-389P', 'score': 0.77}, {'connected_gene': 'GC07P055685', 'score': 0.77}, {'connected_gene': 'FKBP9P1', 'score': 0.34}, {'connected_gene': 'LOC100420539', 'score': 0.34}]
chr7 GH07I055567 55567389 55575368 2.51 [{'connected_gene': 'VOPP1', 'score': 563.64}, {'connected_gene': 'ENSG00000223475', 'score': 550.77}, {'connected_gene': 'PIR61140', 'score': 550.77}, {'connected_gene': 'SEC61G', 'score': 5.71}]
chr7 GH07I055406 55406162 55406617 0.2 [{'connected_gene': 'LANCL2', 'score': 11.6}, {'connected_gene': 'SEC61G', 'score': 9.4}, {'connected_gene': 'LOC100996654', 'score': 9.4}, {'connected_gene': 'LOC100129276', 'score': 7.67}, {'connected_gene': 'VOPP1', 'score': 5.37}, {'connected_gene': 'PIR45139', 'score': 0.22}]
chr7 GH07I055405 55405988 55406137 0.2 [{'connected_gene': 'LANCL2', 'score': 11.6}, {'connected_gene': 'SEC61G', 'score': 9.4}, {'connected_gene': 'LOC100996654', 'score': 9.4}, {'connected_gene': 'PIR45139', 'score': 0.22}]
chr7 GH07I054773 54773551 54774917 1.03 [{'connected_gene': 'SEC61G', 'score': 49.92}, {'connected_gene': 'LOC100996654', 'score': 23.6}, {'connected_gene': 'GC07P054734', 'score': 0.28}, {'connected_gene': 'GC07P054865', 'score': 0.16}]
chr7 GH07I054781 54781273 54782015 0.31 [{'connected_gene': 'SEC61G', 'score': 8.11}, {'connected_gene': 'LOC100996654', 'score': 0.34}, {'connected_gene': 'GC07P054734', 'score': 0.25}, {'connected_gene': 'GC07P054865', 'score': 0.18}]
chr7 GH07I054785 54785428 54785537 0.54 [{'connected_gene': 'SEC61G', 'score': 0.31}, {'connected_gene': 'LOC100996654', 'score': 0.31}, {'connected_gene': 'GC07P054865', 'score': 0.18}]
chr7 GH07I054829 54829870 54833300 0.92 [{'connected_gene': 'SEC61G', 'score': 12.2}, {'connected_gene': 'LOC100996654', 'score': 10.78}, {'connected_gene': 'GC07P054865', 'score': 0.29}]
chr7 GH07I054823 54823601 54824219 0.38 [{'connected_gene': 'SEC61G', 'score': 17.35}, {'connected_gene': 'LOC100996654', 'score': 10.57}, {'connected_gene': 'GC07P054865', 'score': 0.26}]
chr7 GH07I054809 54809988 54812657 0.74 [{'connected_gene': 'SEC61G', 'score': 37.32}, {'connected_gene': 'LOC100996654', 'score': 27.21}, {'connected_gene': 'GC07P054865', 'score': 0.23}]
chr7 GH07I054757 54757537 54760447 1.99 [{'connected_gene': 'SEC61G', 'score': 600.3}, {'connected_gene': 'LOC100996654', 'score': 558.52}, {'connected_gene': 'GC07P054734', 'score': 0.34}]
chr7 GH07I054813 54813548 54813697 0.38 [{'connected_gene': 'SEC61G', 'score': 36.12}, {'connected_gene': 'LOC100996654', 'score': 11.07}, {'connected_gene': 'GC07P054865', 'score': 0.23}]
chr7 GH07I054788 54788533 54789249 1 [{'connected_gene': 'SEC61G', 'score': 6.12}, {'connected_gene': 'LOC100996654', 'score': 5.0}, {'connected_gene': 'GC07P054865', 'score': 0.18}]
chr7 GH07I055124 55124481 55135801 1.67 [{'connected_gene': 'EGFR', 'score': 17.78}, {'connected_gene': 'EGFR-AS1', 'score': 11.51}, {'connected_gene': 'SEC61G', 'score': 2.1}, {'connected_gene': 'GC07P055075', 'score': 0.23}]
chr7 GH07I055060 55060568 55079943 1.72 [{'connected_gene': 'EGFR', 'score': 19.91}, {'connected_gene': 'EGFR-AS1', 'score': 10.51}, {'connected_gene': 'SEC61G', 'score': 1.57}, {'connected_gene': 'GC07P055075', 'score': 0.44}]
chr7 GH07I055253 55253845 55256110 1.75 [{'connected_gene': 'ELDR', 'score': 550.77}, {'connected_gene': 'PIR38213', 'score': 550.77}, {'connected_gene': 'LOC100130121', 'score': 11.3}, {'connected_gene': 'SEC61G', 'score': 10.63}, {'connected_gene': 'LOC100996654', 'score': 10.63}, {'connected_gene': 'EGFR', 'score': 1.69}, {'connected_gene': 'GC07P055243', 'score': 0.39}]
chr7 GH07I054836 54836685 54840000 0.97 [{'connected_gene': 'LOC100996654', 'score': 9.55}, {'connected_gene': 'SEC61G', 'score': 6.25}, {'connected_gene': 'GC07P054865', 'score': 0.31}]
chr7 GH07I055185 55185188 55190346 1.55 [{'connected_gene': 'EGFR-AS1', 'score': 557.15}, {'connected_gene': 'SEC61G', 'score': 1.44}, {'connected_gene': 'GC07P055075', 'score': 0.14}, {'connected_gene': 'EGFR', 'score': 0.1}]
chr7 GH07I055250 55250368 55250497 0.54 [{'connected_gene': 'EGFR-AS1', 'score': 11.15}, {'connected_gene': 'EGFR', 'score': 11.01}, {'connected_gene': 'SEC61G', 'score': 10.75}, {'connected_gene': 'LOC100996654', 'score': 10.75}, {'connected_gene': 'ELDR', 'score': 0.44}, {'connected_gene': 'LOC100130121', 'score': 0.44}, {'connected_gene': 'GC07P055243', 'score': 0.44}, {'connected_gene': 'PIR38213', 'score': 0.44}]
chr7 GH07I055249 55249508 55249617 0.43 [{'connected_gene': 'EGFR-AS1', 'score': 11.15}, {'connected_gene': 'EGFR', 'score': 11.01}, {'connected_gene': 'SEC61G', 'score': 10.75}, {'connected_gene': 'LOC100996654', 'score': 10.75}, {'connected_gene': 'ELDR', 'score': 0.44}, {'connected_gene': 'GC07P055243', 'score': 0.44}, {'connected_gene': 'LOC100130121', 'score': 0.44}, {'connected_gene': 'PIR38213', 'score': 0.44}]
chr7 GH07I054857 54857414 54858742 0.2 [{'connected_gene': 'GC07P054865', 'score': 0.44}, {'connected_gene': 'SEC61G', 'score': 0.15}]
chr7 GH07I054841 54841409 54843122 0.94 [{'connected_gene': 'GC07P054865', 'score': 0.34}, {'connected_gene': 'SEC61G', 'score': 0.18}]