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
ENST00000396613 [[36136731, 36136788], [36141842, 36142088], [36144903, 36145038], [36147782, 36147891], [36148543, 36148647], [36150868, 36150946], [36162358, 36163901]] [[36136775, 36136788], [36141842, 36141868]]
ENST00000377959 [[36136738, 36136788], [36147782, 36147891], [36148543, 36148647], [36162358, 36162907]] [[36136775, 36136788], [36147782, 36147891], [36148543, 36148647], [36162358, 36162519]]
ENST00000377960 [[36136741, 36136788], [36147782, 36147891], [36148543, 36148647], [36150868, 36150946], [36162358, 36163910]] [[36136775, 36136788], [36147782, 36147891], [36148543, 36148647], [36150868, 36150946], [36162358, 36162519]]
ENST00000474050 [[36144272, 36145038], [36146108, 36146212], [36147782, 36147891], [36148543, 36148647], [36150868, 36150946], [36162358, 36163899]] None
NR_104638 [[36136532, 36136580], [36147782, 36147891], [36148543, 36148647], [36150868, 36150946], [36162358, 36163910]] None
NR_104641 [[36136532, 36136788], [36162358, 36163910]] None
NM_001287012 [[36136532, 36136788], [36147782, 36147891], [36162358, 36163910]] [[36136775, 36136788], [36147782, 36147891], [36162358, 36162425]]
NM_001287010 [[36136532, 36136788], [36147782, 36147891], [36148543, 36148647], [36162358, 36163910]] [[36136775, 36136788], [36147782, 36147891], [36148543, 36148647], [36162358, 36162519]]
NM_022343 [[36136532, 36136788], [36147782, 36147891], [36148543, 36148647], [36150868, 36150946], [36162358, 36163910]] [[36136775, 36136788], [36147782, 36147891], [36148543, 36148647], [36150868, 36150946], [36162358, 36162519]]
NM_001287011 [[36136532, 36136788], [36147782, 36147891], [36148543, 36148647], [36150868, 36150946], [36162228, 36163910]] [[36136775, 36136788], [36147782, 36147891], [36148543, 36148647], [36150868, 36150946], [36162228, 36162239]]
NR_104639 [[36136532, 36136788], [36147782, 36147891], [36148543, 36148647], [36150868, 36150946], [36160465, 36160600], [36162358, 36163910]] None
NR_104640 [[36136532, 36136788], [36147782, 36147913], [36148543, 36148647], [36150868, 36150946], [36162358, 36163910]] None
NR_104637 [[36136532, 36136788], [36141842, 36142088], [36144903, 36145038], [36147782, 36147891], [36148543, 36148647], [36150868, 36150946], [36162358, 36163910]] None
NM_001287014 [[36136781, 36136874], [36162358, 36163910]] [[36136816, 36136874], [36162358, 36162519]]
NM_001287013 [[36136781, 36136874], [36147782, 36147891], [36148543, 36148647], [36150868, 36150946], [36162358, 36163910]] [[36136816, 36136874], [36147782, 36147891], [36148543, 36148647], [36150868, 36150946], [36162358, 36162519]]
Promoter
Chrom Start End Description
chr9 36136413 36136426 CAGE_peak_3_at_GLIPR2_5end
chr9 36136700 36136739 CAGE_peak_1_at_GLIPR2_5end
chr9 36136749 36136760 CAGE_peak_2_at_GLIPR2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I036160 36160874 36167044 1.61 [{'connected_gene': 'CD72', 'score': 9.91}, {'connected_gene': 'FAM221B', 'score': 5.9}, {'connected_gene': 'CREB3', 'score': 2.26}, {'connected_gene': 'TLN1', 'score': 1.3}, {'connected_gene': 'CCIN', 'score': 0.44}, {'connected_gene': 'GLIPR2', 'score': 0.31}]
chr9 GH09I036213 36213351 36213505 0.53 [{'connected_gene': 'CCIN', 'score': 55.5}, {'connected_gene': 'FAM221B', 'score': 41.69}, {'connected_gene': 'CLTA', 'score': 11.93}, {'connected_gene': 'GNE', 'score': 10.53}, {'connected_gene': 'GLIPR2', 'score': 10.31}, {'connected_gene': 'SPAG8', 'score': 7.03}, {'connected_gene': 'RNF38', 'score': 1.55}, {'connected_gene': 'PIR52930', 'score': 0.44}]
chr9 GH09I036099 36099698 36103924 1.02 [{'connected_gene': 'CCIN', 'score': 13.06}, {'connected_gene': 'GLIPR2', 'score': 13.04}, {'connected_gene': 'RECK', 'score': 5.71}, {'connected_gene': 'ENSG00000276730', 'score': 0.31}]
chr9 GH09I036157 36157931 36159997 0.97 [{'connected_gene': 'CCIN', 'score': 0.39}, {'connected_gene': 'GLIPR2', 'score': 0.34}]
chr9 GH09I036147 36147382 36149851 1.19 [{'connected_gene': 'CCIN', 'score': 12.59}, {'connected_gene': 'CLTA', 'score': 11.26}, {'connected_gene': 'ZCCHC7', 'score': 10.81}, {'connected_gene': 'RECK', 'score': 9.84}, {'connected_gene': 'GLIPR2', 'score': 7.63}, {'connected_gene': 'GNE', 'score': 5.55}]
chr9 GH09I035913 35913401 35921082 1.42 [{'connected_gene': 'PIGO', 'score': 33.92}, {'connected_gene': 'ARHGEF39', 'score': 23.34}, {'connected_gene': 'RGP1', 'score': 20.5}, {'connected_gene': 'TLN1', 'score': 19.76}, {'connected_gene': 'ENSG00000231393', 'score': 18.15}, {'connected_gene': 'GBA2', 'score': 16.51}, {'connected_gene': 'SPAAR', 'score': 16.05}, {'connected_gene': 'CLTA', 'score': 11.84}, {'connected_gene': 'RECK', 'score': 11.56}, {'connected_gene': 'NDUFA5P4', 'score': 10.85}, {'connected_gene': 'OR13J1', 'score': 10.83}, {'connected_gene': 'FAM221B', 'score': 10.83}, {'connected_gene': 'TMEM8B', 'score': 10.8}, {'connected_gene': 'SPAG8', 'score': 10.29}, {'connected_gene': 'ENSG00000227388', 'score': 10.15}, {'connected_gene': 'NPR2', 'score': 10.13}, {'connected_gene': 'CD72', 'score': 9.94}, {'connected_gene': 'HINT2', 'score': 9.9}, {'connected_gene': 'ENSG00000228843', 'score': 9.88}, {'connected_gene': 'MSMP', 'score': 9.88}, {'connected_gene': 'GLIPR2', 'score': 9.79}, {'connected_gene': 'CREB3', 'score': 9.52}, {'connected_gene': 'OR2S1P', 'score': 8.33}, {'connected_gene': 'HRCT1', 'score': 7.93}, {'connected_gene': 'GC09P035912', 'score': 0.77}, {'connected_gene': 'PGAM1P2', 'score': 0.31}]
chr9 GH09I036090 36090170 36093399 0.91 [{'connected_gene': 'PIGO', 'score': 13.78}, {'connected_gene': 'GLIPR2', 'score': 12.05}, {'connected_gene': 'CCIN', 'score': 11.82}, {'connected_gene': 'HMGB3P24', 'score': 9.8}, {'connected_gene': 'GNE', 'score': 9.34}, {'connected_gene': 'RECK', 'score': 5.67}, {'connected_gene': 'ENSG00000276730', 'score': 0.37}]
chr9 GH09I036035 36035949 36041016 2.47 [{'connected_gene': 'RECK', 'score': 560.66}, {'connected_gene': 'GLIPR2', 'score': 5.78}, {'connected_gene': 'ATP8B5P', 'score': 4.35}, {'connected_gene': 'OR2S2', 'score': 2.36}, {'connected_gene': 'ENSG00000276730', 'score': 0.29}]
chr9 GH09I036023 36023544 36023693 0.59 [{'connected_gene': 'OR2AM1P', 'score': 550.77}, {'connected_gene': 'HRCT1', 'score': 10.49}, {'connected_gene': 'GLIPR2', 'score': 10.26}, {'connected_gene': 'GBA2', 'score': 9.28}, {'connected_gene': 'TMEM8B', 'score': 9.28}, {'connected_gene': 'HINT2', 'score': 9.28}, {'connected_gene': 'SPAG8', 'score': 9.27}, {'connected_gene': 'MSMP', 'score': 9.06}, {'connected_gene': 'ENSG00000228843', 'score': 9.06}, {'connected_gene': 'RGP1', 'score': 9.06}, {'connected_gene': 'GNE', 'score': 8.65}, {'connected_gene': 'RECK', 'score': 0.39}]
chr9 GH09I035904 35904490 35911844 2.1 [{'connected_gene': 'HRCT1', 'score': 569.7}, {'connected_gene': 'SPAAR', 'score': 568.78}, {'connected_gene': 'TMEM8B', 'score': 17.6}, {'connected_gene': 'PIGO', 'score': 16.02}, {'connected_gene': 'OR13J1', 'score': 14.07}, {'connected_gene': 'FAM221B', 'score': 11.61}, {'connected_gene': 'NDUFA5P4', 'score': 10.92}, {'connected_gene': 'ENSG00000227388', 'score': 10.64}, {'connected_gene': 'NPR2', 'score': 10.62}, {'connected_gene': 'FANCG', 'score': 10.59}, {'connected_gene': 'SPAG8', 'score': 10.49}, {'connected_gene': 'OR2S1P', 'score': 10.44}, {'connected_gene': 'HINT2', 'score': 10.43}, {'connected_gene': 'GBA2', 'score': 9.64}, {'connected_gene': 'TLN1', 'score': 9.64}, {'connected_gene': 'CREB3', 'score': 9.64}, {'connected_gene': 'GLIPR2', 'score': 9.51}, {'connected_gene': 'ENSG00000228843', 'score': 9.42}, {'connected_gene': 'MSMP', 'score': 9.42}, {'connected_gene': 'RGP1', 'score': 9.42}, {'connected_gene': 'DNAJB5', 'score': 4.57}, {'connected_gene': 'CCDC107', 'score': 4.29}, {'connected_gene': 'OR2S2', 'score': 1.72}, {'connected_gene': 'LOC105376027', 'score': 0.77}]
chr9 GH09I035959 35959664 35961045 0.2 [{'connected_gene': 'OR13J1', 'score': 10.98}, {'connected_gene': 'NDUFA5P4', 'score': 10.98}, {'connected_gene': 'GLIPR2', 'score': 10.26}, {'connected_gene': 'ENSG00000227388', 'score': 9.61}, {'connected_gene': 'NPR2', 'score': 9.6}, {'connected_gene': 'GNE', 'score': 9.34}, {'connected_gene': 'OR2S1P', 'score': 4.61}, {'connected_gene': 'OR2S2', 'score': 0.77}, {'connected_gene': 'PIR48374', 'score': 0.39}]
chr9 GH09I036138 36138503 36146043 1.32 [{'connected_gene': 'GLIPR2', 'score': 20.19}, {'connected_gene': 'CCIN', 'score': 13.43}, {'connected_gene': 'CLTA', 'score': 11.25}, {'connected_gene': 'HMGB3P24', 'score': 5.05}]
chr9 GH09I036125 36125801 36130001 1.1 [{'connected_gene': 'GLIPR2', 'score': 8.43}, {'connected_gene': 'RECK', 'score': 4.69}, {'connected_gene': 'ENSG00000276730', 'score': 0.22}]
chr9 GH09I036135 36135826 36138107 2 [{'connected_gene': 'GLIPR2', 'score': 555.78}, {'connected_gene': 'TMEM8B', 'score': 4.77}, {'connected_gene': 'CCIN', 'score': 0.29}]
chr9 GH09I036187 36187074 36188350 0.46 [{'connected_gene': 'GLIPR2', 'score': 11.83}, {'connected_gene': 'CLTA', 'score': 0.77}, {'connected_gene': 'CCIN', 'score': 0.37}]
chr9 GH09I036063 36063442 36064880 0.49 [{'connected_gene': 'GLIPR2', 'score': 11.4}, {'connected_gene': 'CLTA', 'score': 9.84}, {'connected_gene': 'GNE', 'score': 9.22}, {'connected_gene': 'ENSG00000276730', 'score': 0.44}, {'connected_gene': 'RECK', 'score': 0.31}]
chr9 GH09I036193 36193824 36193912 0.4 [{'connected_gene': 'GLIPR2', 'score': 10.79}, {'connected_gene': 'CLTA', 'score': 0.77}, {'connected_gene': 'PIR52930', 'score': 0.31}]
chr9 GH09I036082 36082849 36083675 0.2 [{'connected_gene': 'GLIPR2', 'score': 11.52}, {'connected_gene': 'GNE', 'score': 9.45}, {'connected_gene': 'ENSG00000276730', 'score': 0.39}, {'connected_gene': 'RECK', 'score': 0.25}]
chr9 GH09I036150 36150001 36155966 1.48 [{'connected_gene': 'GLIPR2', 'score': 18.75}, {'connected_gene': 'GNE', 'score': 6.74}, {'connected_gene': 'HMGB3P24', 'score': 4.92}, {'connected_gene': 'OR2S2', 'score': 4.18}, {'connected_gene': 'TLN1', 'score': 1.23}, {'connected_gene': 'OR13J1', 'score': 1.2}, {'connected_gene': 'CCIN', 'score': 0.37}]
chr9 GH09I036316 36316639 36321272 1 [{'connected_gene': 'GLIPR2', 'score': 5.68}, {'connected_gene': 'GNE', 'score': 5.5}, {'connected_gene': 'HMGB3P24', 'score': 5.09}, {'connected_gene': 'RNF38', 'score': 4.46}, {'connected_gene': 'MRPS21P4', 'score': 0.16}]
chr9 GH09I036136 36135184 36135333 0.51 [{'connected_gene': 'GLIPR2', 'score': 550.77}, {'connected_gene': 'ENSG00000276730', 'score': 0.21}]
chr9 GH09I036132 36132200 36132414 0.74 [{'connected_gene': 'GLIPR2', 'score': 6.13}, {'connected_gene': 'ENSG00000276730', 'score': 0.22}]
chr9 GH09I036398 36398168 36402833 2.23 [{'connected_gene': 'RNF38', 'score': 569.02}, {'connected_gene': 'GLIPR2', 'score': 5.47}, {'connected_gene': 'HMGB3P24', 'score': 5.16}, {'connected_gene': 'MRPS21P4', 'score': 0.44}]
chr9 GH09I036016 36016898 36019790 0.51 [{'connected_gene': 'CLTA', 'score': 11.17}, {'connected_gene': 'HRCT1', 'score': 10.78}, {'connected_gene': 'GLIPR2', 'score': 10.72}, {'connected_gene': 'ENSG00000227388', 'score': 10.09}, {'connected_gene': 'NPR2', 'score': 10.09}, {'connected_gene': 'GNE', 'score': 9.42}, {'connected_gene': 'OR2AM1P', 'score': 0.77}, {'connected_gene': 'OR2S1P', 'score': 0.44}]
chr9 GH09I036189 36189718 36192764 2.25 [{'connected_gene': 'CLTA', 'score': 556.34}, {'connected_gene': 'RGP1', 'score': 13.03}, {'connected_gene': 'ARHGEF39', 'score': 12.23}, {'connected_gene': 'ZCCHC7', 'score': 11.98}, {'connected_gene': 'GLIPR2', 'score': 10.8}, {'connected_gene': 'GNE', 'score': 4.98}, {'connected_gene': 'PIR52930', 'score': 0.31}]
chr9 GH09I036206 36206170 36209263 0.98 [{'connected_gene': 'GNE', 'score': 16.02}, {'connected_gene': 'RNU4-53P', 'score': 11.22}, {'connected_gene': 'GLIPR2', 'score': 11.17}, {'connected_gene': 'CLTA', 'score': 5.57}, {'connected_gene': 'PIR52930', 'score': 0.39}]
chr9 GH09I035962 35962020 35963006 0.51 [{'connected_gene': 'NDUFA5P4', 'score': 10.98}, {'connected_gene': 'OR13J1', 'score': 10.97}, {'connected_gene': 'GLIPR2', 'score': 10.25}, {'connected_gene': 'GNE', 'score': 9.34}, {'connected_gene': 'OR2S1P', 'score': 5.2}, {'connected_gene': 'TMEM8B', 'score': 4.31}, {'connected_gene': 'OR2S2', 'score': 0.77}, {'connected_gene': 'PIR48374', 'score': 0.44}]
chr9 GH09I036073 36073625 36075531 0.72 [{'connected_gene': 'ENSG00000276730', 'score': 550.77}, {'connected_gene': 'GLIPR2', 'score': 11.5}, {'connected_gene': 'GNE', 'score': 9.61}, {'connected_gene': 'RECK', 'score': 8.88}]
chr9 GH09I036216 36216732 36220736 0.49 [{'connected_gene': 'PIR52930', 'score': 550.77}, {'connected_gene': 'GNE', 'score': 26.29}, {'connected_gene': 'CLTA', 'score': 11.54}, {'connected_gene': 'RNU4-53P', 'score': 11.24}, {'connected_gene': 'HMGB3P24', 'score': 11.09}, {'connected_gene': 'GLIPR2', 'score': 10.39}]

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