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
ENST00000388950 [[35816387, 35818503], [35818886, 35819006], [35819193, 35819391], [35819886, 35819997], [35821434, 35821625], [35825226, 35825370], [35825560, 35826158], [35828459, 35828744]] [[35819907, 35819997], [35821434, 35821625], [35825226, 35825370], [35825560, 35826158]]
ENST00000423537 [[35817013, 35818503], [35818886, 35819006], [35819193, 35819391], [35819886, 35819997], [35825226, 35825370], [35825560, 35826158], [35828459, 35828729]] [[35818465, 35818503], [35818886, 35819006], [35819193, 35819391], [35819886, 35819997], [35825226, 35825370], [35825560, 35826158]]
ENST00000377984 [[35819340, 35819391], [35819886, 35819997], [35825226, 35825370], [35825560, 35826158], [35826788, 35826934], [35828459, 35828576]] [[35819340, 35819391], [35819886, 35819997], [35825226, 35825370], [35825560, 35826158]]
ENST00000472182 [[35825887, 35826158], [35826788, 35826966], [35828459, 35828729]] [[35825887, 35826158]]
NR_052026 [[35817013, 35818503], [35818886, 35819006], [35819193, 35819391], [35819886, 35819997], [35821434, 35821625], [35825226, 35825370], [35825560, 35826158], [35828459, 35828744]] None
NM_001012446 [[35817013, 35818503], [35818886, 35819006], [35819193, 35819391], [35819886, 35819997], [35825226, 35825370], [35825560, 35826158], [35828459, 35828744]] [[35818465, 35818503], [35818886, 35819006], [35819193, 35819391], [35819886, 35819997], [35825226, 35825370], [35825560, 35826158]]
Promoter
Chrom Start End Description
chr9 35828723 35828734 CAGE_peak_2_at_C9orf128_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 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 GH09I036283 36283954 36284931 0.64 [{'connected_gene': 'ZCCHC7', 'score': 40.2}, {'connected_gene': 'HMGB3P24', 'score': 19.37}, {'connected_gene': 'ARHGEF39', 'score': 12.58}, {'connected_gene': 'SPAG8', 'score': 12.4}, {'connected_gene': 'TMEM8B', 'score': 11.31}, {'connected_gene': 'RUSC2', 'score': 11.16}, {'connected_gene': 'ENSG00000231393', 'score': 10.39}, {'connected_gene': 'RNF38', 'score': 10.16}, {'connected_gene': 'RGP1', 'score': 10.1}, {'connected_gene': 'FAM221B', 'score': 5.85}, {'connected_gene': 'GNE', 'score': 5.47}, {'connected_gene': 'PIR32038', 'score': 0.37}, {'connected_gene': 'LOC102724322', 'score': 0.31}, {'connected_gene': 'CLTA', 'score': 0.16}]
chr9 GH09I035800 35800860 35802216 0.8 [{'connected_gene': 'TPM2', 'score': 10.94}, {'connected_gene': 'ENSG00000228843', 'score': 10.82}, {'connected_gene': 'MSMP', 'score': 10.82}, {'connected_gene': 'RGP1', 'score': 10.79}, {'connected_gene': 'GBA2', 'score': 10.79}, {'connected_gene': 'FAM221B', 'score': 10.72}, {'connected_gene': 'TLN1', 'score': 10.68}, {'connected_gene': 'CREB3', 'score': 10.68}, {'connected_gene': 'ARHGEF39', 'score': 9.82}, {'connected_gene': 'RN7SL22P', 'score': 9.82}, {'connected_gene': 'CCDC107', 'score': 9.8}, {'connected_gene': 'SPAG8', 'score': 0.39}, {'connected_gene': 'ENSG00000227388', 'score': 0.31}, {'connected_gene': 'NPR2', 'score': 0.25}]
chr9 GH09I035679 35679739 35692495 2.29 [{'connected_gene': 'TPM2', 'score': 579.96}, {'connected_gene': 'GBA2', 'score': 25.49}, {'connected_gene': 'TMEM8B', 'score': 22.44}, {'connected_gene': 'TLN1', 'score': 21.55}, {'connected_gene': 'NPR2', 'score': 20.48}, {'connected_gene': 'CCDC107', 'score': 18.57}, {'connected_gene': 'SIT1', 'score': 11.69}, {'connected_gene': 'CREB3', 'score': 11.26}, {'connected_gene': 'RGP1', 'score': 10.93}, {'connected_gene': 'ENSG00000228843', 'score': 10.91}, {'connected_gene': 'MSMP', 'score': 10.91}, {'connected_gene': 'ENSG00000227388', 'score': 10.09}, {'connected_gene': 'FAM221B', 'score': 9.79}, {'connected_gene': 'FANCG', 'score': 4.44}, {'connected_gene': 'CA9', 'score': 0.39}, {'connected_gene': 'ARHGEF39', 'score': 0.39}]
chr9 GH09I035842 35842864 35843013 0.64 [{'connected_gene': 'TPM2', 'score': 10.73}, {'connected_gene': 'FAM221B', 'score': 0.44}, {'connected_gene': 'OR13E1P', 'score': 0.37}, {'connected_gene': 'TMEM8B', 'score': 0.31}]
chr9 GH09I035841 35841826 35842833 0.62 [{'connected_gene': 'TPM2', 'score': 9.6}, {'connected_gene': 'FAM221B', 'score': 0.44}, {'connected_gene': 'OR13E1P', 'score': 0.37}, {'connected_gene': 'TMEM8B', 'score': 0.31}]
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 GH09I035847 35847362 35849312 0.87 [{'connected_gene': 'TMEM8B', 'score': 19.09}, {'connected_gene': 'OR13J1', 'score': 12.12}, {'connected_gene': 'NDUFA5P4', 'score': 12.09}, {'connected_gene': 'ENSG00000227388', 'score': 11.22}, {'connected_gene': 'NPR2', 'score': 11.19}, {'connected_gene': 'SPAG8', 'score': 11.13}, {'connected_gene': 'HINT2', 'score': 10.55}, {'connected_gene': 'GBA2', 'score': 10.32}, {'connected_gene': 'TLN1', 'score': 10.3}, {'connected_gene': 'CREB3', 'score': 10.3}, {'connected_gene': 'FAM221B', 'score': 0.39}, {'connected_gene': 'OR13E1P', 'score': 0.39}]
chr9 GH09I035828 35828504 35830691 1.83 [{'connected_gene': 'TMEM8B', 'score': 589.19}, {'connected_gene': 'FAM221B', 'score': 550.77}, {'connected_gene': 'TPM2', 'score': 9.69}, {'connected_gene': 'HINT2', 'score': 0.39}]
chr9 GH09I035831 35831701 35836668 1.31 [{'connected_gene': 'FAM221B', 'score': 550.77}, {'connected_gene': 'TMEM8B', 'score': 45.97}, {'connected_gene': 'TPM2', 'score': 9.68}, {'connected_gene': 'OR13E1P', 'score': 0.31}]
chr9 GH09I035882 35882364 35882513 0.69 [{'connected_gene': 'FAM221B', 'score': 11.72}, {'connected_gene': 'TMEM8B', 'score': 11.68}, {'connected_gene': 'ENSG00000227388', 'score': 11.64}, {'connected_gene': 'NPR2', 'score': 11.63}, {'connected_gene': 'HINT2', 'score': 11.35}, {'connected_gene': 'SPAG8', 'score': 11.34}, {'connected_gene': 'NDUFA5P4', 'score': 0.44}, {'connected_gene': 'LOC105376027', 'score': 0.34}]
chr9 GH09I035843 35843331 35843658 0.31 [{'connected_gene': 'FAM221B', 'score': 0.44}, {'connected_gene': 'OR13E1P', 'score': 0.37}, {'connected_gene': 'TMEM8B', 'score': 0.31}]
chr9 GH09I035678 35678702 35679646 0.4 [{'connected_gene': 'NPR2', 'score': 14.21}, {'connected_gene': 'SIT1', 'score': 11.36}, {'connected_gene': 'TLN1', 'score': 10.63}, {'connected_gene': 'CREB3', 'score': 10.63}, {'connected_gene': 'GBA2', 'score': 10.6}, {'connected_gene': 'RGP1', 'score': 10.41}, {'connected_gene': 'MSMP', 'score': 10.4}, {'connected_gene': 'ENSG00000228843', 'score': 10.4}, {'connected_gene': 'ARHGEF39', 'score': 9.47}, {'connected_gene': 'TMEM8B', 'score': 9.46}, {'connected_gene': 'FAM221B', 'score': 9.45}, {'connected_gene': 'ENSG00000227388', 'score': 9.42}, {'connected_gene': 'TPM2', 'score': 6.2}, {'connected_gene': 'CA9', 'score': 0.44}]
chr9 GH09I035903 35903104 35903273 0.72 [{'connected_gene': 'LOC105376027', 'score': 550.77}, {'connected_gene': 'ENSG00000227388', 'score': 11.26}, {'connected_gene': 'NPR2', 'score': 11.25}, {'connected_gene': 'FAM221B', 'score': 10.85}, {'connected_gene': 'NDUFA5P4', 'score': 10.84}, {'connected_gene': 'OR13J1', 'score': 10.83}, {'connected_gene': 'TMEM8B', 'score': 10.81}, {'connected_gene': 'SPAG8', 'score': 10.8}, {'connected_gene': 'HINT2', 'score': 10.53}]
chr9 GH09I036295 36295025 36299058 0.67 [{'connected_gene': 'GNE', 'score': 14.25}, {'connected_gene': 'FAM221B', 'score': 5.31}, {'connected_gene': 'HMGB3P24', 'score': 4.64}, {'connected_gene': 'PIR32038', 'score': 0.77}, {'connected_gene': 'LOC102724322', 'score': 0.28}, {'connected_gene': 'CLTA', 'score': 0.14}]
chr9 GH09I035602 35602843 35606431 2.39 [{'connected_gene': 'GC09M035603', 'score': 550.77}, {'connected_gene': 'TESK1', 'score': 550.77}, {'connected_gene': 'CD72', 'score': 23.9}, {'connected_gene': 'ENSG00000231393', 'score': 12.44}, {'connected_gene': 'LOC101926948', 'score': 12.43}, {'connected_gene': 'CCDC107', 'score': 11.24}, {'connected_gene': 'RN7SL22P', 'score': 11.21}, {'connected_gene': 'ARHGEF39', 'score': 11.2}, {'connected_gene': 'VCP', 'score': 10.81}, {'connected_gene': 'RUSC2', 'score': 9.26}, {'connected_gene': 'TMEM8B', 'score': 8.91}, {'connected_gene': 'SPAG8', 'score': 8.21}, {'connected_gene': 'FAM221B', 'score': 6.85}, {'connected_gene': 'ENSG00000227388', 'score': 4.68}, {'connected_gene': 'GBA2', 'score': 2.06}, {'connected_gene': 'RECK', 'score': 1.34}, {'connected_gene': 'RPS29P17', 'score': 0.39}]
chr9 GH09I035825 35825965 35826993 0.92 [{'connected_gene': 'ENSG00000227388', 'score': 11.59}, {'connected_gene': 'NPR2', 'score': 11.56}, {'connected_gene': 'ENSG00000228843', 'score': 10.93}, {'connected_gene': 'MSMP', 'score': 10.93}, {'connected_gene': 'GBA2', 'score': 10.91}, {'connected_gene': 'RGP1', 'score': 10.91}, {'connected_gene': 'TLN1', 'score': 10.89}, {'connected_gene': 'CREB3', 'score': 10.89}, {'connected_gene': 'OR13J1', 'score': 10.76}, {'connected_gene': 'NDUFA5P4', 'score': 10.74}, {'connected_gene': 'TPM2', 'score': 9.7}, {'connected_gene': 'FAM221B', 'score': 0.44}, {'connected_gene': 'TMEM8B', 'score': 0.39}, {'connected_gene': 'HINT2', 'score': 0.39}]

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