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
ENST00000483871 [[42086567, 42086780], [42087000, 42087149], [42087792, 42088060], [42088410, 42088535], [42088672, 42088881], [42089154, 42089238], [42089342, 42089974]] [[42086673, 42086780], [42087000, 42087149], [42087792, 42087944]]
ENST00000244020 [[42086567, 42086780], [42087000, 42087149], [42088410, 42088535], [42088672, 42088881], [42089154, 42089238], [42089342, 42092245]] [[42086673, 42086780], [42087000, 42087149], [42088410, 42088535], [42088672, 42088881], [42089154, 42089238], [42089342, 42089703]]
NM_006275 [[42086503, 42086780], [42087000, 42087149], [42088410, 42088535], [42088672, 42088881], [42089154, 42089238], [42089342, 42092245]] [[42086673, 42086780], [42087000, 42087149], [42088410, 42088535], [42088672, 42088881], [42089154, 42089238], [42089342, 42089703]]
NR_034009 [[42086503, 42086780], [42087000, 42087149], [42087792, 42088060], [42088410, 42088535], [42088672, 42088881], [42089154, 42089238], [42089342, 42092245]] None
Promoter
Chrom Start End Description
chr20 42086501 42086509 CAGE_peak_3_at_SRSF6_5end
chr20 42086516 42086519 CAGE_peak_4_at_SRSF6_5end
chr20 42086525 42086548 CAGE_peak_1_at_SRSF6_5end
chr20 42090013 42090018 CAGE_peak_2_at_SRSF6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I043914 43914400 43916834 2.02 [{'connected_gene': 'TOX2', 'score': 587.48}, {'connected_gene': 'SRSF6', 'score': 15.38}, {'connected_gene': 'RN7SL443P', 'score': 0.16}]
chr20 GH20I043849 43849139 43850813 1.01 [{'connected_gene': 'TOX2', 'score': 21.89}, {'connected_gene': 'SRSF6', 'score': 15.78}, {'connected_gene': 'LOC105372625', 'score': 0.31}, {'connected_gene': 'LINC01728', 'score': 0.26}]
chr20 GH20I044089 44089951 44090381 1.18 [{'connected_gene': 'SRSF6', 'score': 11.58}, {'connected_gene': 'MYBL2', 'score': 10.09}, {'connected_gene': 'SGK2', 'score': 9.88}, {'connected_gene': 'JPH2', 'score': 5.9}, {'connected_gene': 'GC20P044130', 'score': 0.26}, {'connected_gene': 'RN7SL443P', 'score': 0.18}]
chr20 GH20I043456 43456506 43459926 2.51 [{'connected_gene': 'SRSF6', 'score': 588.56}, {'connected_gene': 'L3MBTL1', 'score': 28.38}, {'connected_gene': 'IFT52', 'score': 10.39}, {'connected_gene': 'OSER1', 'score': 9.75}, {'connected_gene': 'GC20P043474', 'score': 0.39}]
chr20 GH20I043096 43096188 43097546 0.38 [{'connected_gene': 'SRSF6', 'score': 14.75}, {'connected_gene': 'GC20P043105', 'score': 0.44}, {'connected_gene': 'GC20P043084', 'score': 0.39}, {'connected_gene': 'PTPRT', 'score': 0.16}]
chr20 GH20I043457 43456301 43456470 0.56 [{'connected_gene': 'SRSF6', 'score': 550.77}, {'connected_gene': 'ENSG00000206998', 'score': 0.44}, {'connected_gene': 'GC20M043452', 'score': 0.44}]
chr20 GH20I044173 44173956 44189616 2.62 [{'connected_gene': 'JPH2', 'score': 569.71}, {'connected_gene': 'SRSF6', 'score': 67.97}, {'connected_gene': 'OSER1', 'score': 30.83}, {'connected_gene': 'L3MBTL1', 'score': 20.83}, {'connected_gene': 'FITM2', 'score': 13.17}, {'connected_gene': 'IFT52', 'score': 10.92}, {'connected_gene': 'SGK2', 'score': 9.84}, {'connected_gene': 'OSER1-AS1', 'score': 7.55}, {'connected_gene': 'GC20P044130', 'score': 0.23}]
chr20 GH20I044216 44216999 44220678 1.5 [{'connected_gene': 'OSER1', 'score': 18.48}, {'connected_gene': 'SRSF6', 'score': 15.96}, {'connected_gene': 'FITM2', 'score': 12.31}, {'connected_gene': 'LINC01620', 'score': 10.54}, {'connected_gene': 'LINC01430', 'score': 10.54}, {'connected_gene': 'OSER1-AS1', 'score': 9.87}, {'connected_gene': 'JPH2', 'score': 4.6}, {'connected_gene': 'GDAP1L1', 'score': 0.31}]
chr20 GH20I044206 44206836 44212942 2.33 [{'connected_gene': 'OSER1', 'score': 570.29}, {'connected_gene': 'OSER1-AS1', 'score': 566.22}, {'connected_gene': 'SRSF6', 'score': 22.04}, {'connected_gene': 'FITM2', 'score': 12.3}, {'connected_gene': 'L3MBTL1', 'score': 11.73}, {'connected_gene': 'KCNK15', 'score': 11.53}, {'connected_gene': 'IFT52', 'score': 11.19}, {'connected_gene': 'WISP2', 'score': 10.49}, {'connected_gene': 'JPH2', 'score': 0.34}]
chr20 GH20I043589 43589810 43591789 2.05 [{'connected_gene': 'IFT52', 'score': 574.59}, {'connected_gene': 'ENSG00000282876', 'score': 550.77}, {'connected_gene': 'MYBL2', 'score': 16.09}, {'connected_gene': 'SRSF6', 'score': 14.81}, {'connected_gene': 'GC20P043584', 'score': 0.44}, {'connected_gene': 'RPL27AP', 'score': 0.21}]
chr20 GH20I043666 43666187 43668243 1.97 [{'connected_gene': 'MYBL2', 'score': 571.46}, {'connected_gene': 'IFT52', 'score': 24.01}, {'connected_gene': 'SRSF6', 'score': 10.25}, {'connected_gene': 'OSER1', 'score': 9.75}, {'connected_gene': 'GC20M043632', 'score': 0.29}]
chr20 GH20I044421 44421928 44437121 1.17 [{'connected_gene': 'HNF4A', 'score': 20.02}, {'connected_gene': 'SRSF6', 'score': 14.72}, {'connected_gene': 'LOC105372629', 'score': 11.63}, {'connected_gene': 'FITM2', 'score': 11.43}, {'connected_gene': 'LINC01620', 'score': 11.28}, {'connected_gene': 'LINC01430', 'score': 11.28}, {'connected_gene': 'PKIG', 'score': 10.53}, {'connected_gene': 'MIR3646', 'score': 0.34}]
chr20 GH20I044397 44397855 44420654 1.96 [{'connected_gene': 'HNF4A', 'score': 558.71}, {'connected_gene': 'MIR3646', 'score': 550.77}, {'connected_gene': 'SRSF6', 'score': 14.72}, {'connected_gene': 'FITM2', 'score': 10.64}, {'connected_gene': 'LINC01620', 'score': 10.32}, {'connected_gene': 'LINC01430', 'score': 10.32}, {'connected_gene': 'SDC4', 'score': 9.84}, {'connected_gene': 'OSER1-AS1', 'score': 4.97}]
chr20 GH20I043507 43507581 43508990 1.89 [{'connected_gene': 'L3MBTL1', 'score': 550.77}, {'connected_gene': 'SRSF6', 'score': 15.57}, {'connected_gene': 'GC20M043507', 'score': 0.37}, {'connected_gene': 'ENSG00000234271', 'score': 0.37}]
chr20 GH20I043555 43555534 43561695 1.92 [{'connected_gene': 'SGK2', 'score': 557.11}, {'connected_gene': 'IFT52', 'score': 11.38}, {'connected_gene': 'SRSF6', 'score': 10.41}, {'connected_gene': 'RNU6-1251P', 'score': 10.22}, {'connected_gene': 'ENSG00000226143', 'score': 0.44}, {'connected_gene': 'ENSG00000277611', 'score': 0.37}]
chr20 GH20I044350 44350562 44358613 1.66 [{'connected_gene': 'LOC105372629', 'score': 561.32}, {'connected_gene': 'GC20P044356', 'score': 550.77}, {'connected_gene': 'HNF4A', 'score': 550.77}, {'connected_gene': 'SRSF6', 'score': 57.31}, {'connected_gene': 'L3MBTL1', 'score': 12.78}, {'connected_gene': 'IFT52', 'score': 10.3}, {'connected_gene': 'OSER1', 'score': 7.84}, {'connected_gene': 'OSER1-AS1', 'score': 5.95}, {'connected_gene': 'MYBL2', 'score': 4.53}, {'connected_gene': 'ENSG00000201363', 'score': 0.44}, {'connected_gene': 'R3HDML', 'score': 0.37}]
chr20 GH20I043583 43583256 43585856 1.14 [{'connected_gene': 'GC20P043584', 'score': 550.77}, {'connected_gene': 'IFT52', 'score': 24.25}, {'connected_gene': 'MYBL2', 'score': 14.49}, {'connected_gene': 'SRSF6', 'score': 11.67}, {'connected_gene': 'SGK2', 'score': 0.31}]
chr20 GH20I043656 43656299 43659059 1.63 [{'connected_gene': 'GC20P043655', 'score': 550.77}, {'connected_gene': 'IFT52', 'score': 28.09}, {'connected_gene': 'MYBL2', 'score': 18.22}, {'connected_gene': 'OSER1', 'score': 18.07}, {'connected_gene': 'SRSF6', 'score': 13.2}, {'connected_gene': 'SGK2', 'score': 10.26}, {'connected_gene': 'L3MBTL1', 'score': 2.82}, {'connected_gene': 'GC20M043632', 'score': 0.26}]