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
ENST00000354323 [[35906188, 35907138]] [[35906284, 35906632]]
NM_001039792 [[35906188, 35907138]] [[35906284, 35906632]]
Promoter
Chrom Start End Description
chr9 35906117 35906129 CAGE_peak_3_at_HRCT1_5end
chr9 35906176 35906225 CAGE_peak_1_at_HRCT1_5end
chr9 35906227 35906248 CAGE_peak_2_at_HRCT1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I035509 35509301 35512722 1.28 [{'connected_gene': 'ARHGEF39', 'score': 5.21}, {'connected_gene': 'HRCT1', 'score': 4.27}, {'connected_gene': 'CCDC107', 'score': 3.98}, {'connected_gene': 'RPL36AP33', 'score': 0.77}, {'connected_gene': 'RUSC2', 'score': 0.34}, {'connected_gene': 'PIR61372', 'score': 0.28}]
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 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 GH09I035755 35755533 35759306 1.48 [{'connected_gene': 'MSMP', 'score': 550.77}, {'connected_gene': 'ENSG00000228843', 'score': 550.77}, {'connected_gene': 'TMEM8B', 'score': 19.75}, {'connected_gene': 'NPR2', 'score': 5.99}, {'connected_gene': 'HRCT1', 'score': 4.94}, {'connected_gene': 'PHF24', 'score': 4.56}, {'connected_gene': 'RGP1', 'score': 0.44}]
chr9 GH09I035951 35951506 35953113 0.69 [{'connected_gene': 'HRCT1', 'score': 5.3}, {'connected_gene': 'OR2S1P', 'score': 5.18}, {'connected_gene': 'TMEM8B', 'score': 4.6}, {'connected_gene': 'PGAM1P2', 'score': 0.44}, {'connected_gene': 'OR2S2', 'score': 0.44}]
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 GH09I035844 35843705 35847000 1.15 [{'connected_gene': 'TMEM8B', 'score': 22.5}, {'connected_gene': 'HRCT1', 'score': 10.1}, {'connected_gene': 'OR13E1P', 'score': 5.97}, {'connected_gene': 'FAM221B', 'score': 0.39}]
chr9 GH09I035995 35995660 35998333 0.38 [{'connected_gene': 'OR13C6P', 'score': 10.67}, {'connected_gene': 'OR2S1P', 'score': 5.28}, {'connected_gene': 'HRCT1', 'score': 5.03}, {'connected_gene': 'OR13C7', '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 GH09I035161 35161011 35163656 1.99 [{'connected_gene': 'UNC13B', 'score': 561.4}, {'connected_gene': 'NPR2', 'score': 11.81}, {'connected_gene': 'OR13E1P', 'score': 11.75}, {'connected_gene': 'HRCT1', 'score': 11.06}, {'connected_gene': 'FAM214B', 'score': 10.93}, {'connected_gene': 'TMEM8B', 'score': 10.03}, {'connected_gene': 'GC09P035160', 'score': 0.77}, {'connected_gene': 'GC09M035178', 'score': 0.37}]
chr9 GH09I035770 35770610 35773077 0.74 [{'connected_gene': 'ENSG00000227388', 'score': 550.77}, {'connected_gene': 'NPR2', 'score': 13.62}, {'connected_gene': 'HRCT1', 'score': 7.74}, {'connected_gene': 'ENSG00000228843', 'score': 0.39}]