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
ENST00000374586 [[111777431, 111782785], [111795586, 111795781], [111798485, 111798660], [111800296, 111800397], [111812562, 111812708], [111812849, 111812972], [111819470, 111819602], [111822633, 111822732], [111826756, 111826847], [111835635, 111835718], [111843118, 111843223], [111848276, 111848300], [111849452, 111849622], [111853201, 111853435], [111855754, 111855871], [111868787, 111868889], [111870732, 111870850], [111881614, 111882225]] [[111782739, 111782785], [111795586, 111795781], [111798485, 111798660], [111800296, 111800397], [111812562, 111812708], [111812849, 111812972], [111819470, 111819602], [111822633, 111822732], [111826756, 111826847], [111835635, 111835718], [111843118, 111843223], [111848276, 111848300], [111849452, 111849622], [111853201, 111853435], [111855754, 111855871], [111868787, 111868889], [111870732, 111870850], [111881614, 111882193]]
ENST00000413712 [[111782183, 111782785], [111795586, 111795781], [111798485, 111798660], [111800296, 111800397], [111812562, 111812708], [111812849, 111812972], [111819470, 111819602], [111822633, 111822732], [111826756, 111826847], [111835635, 111835718], [111843118, 111843223], [111849452, 111849573]] [[111782739, 111782785], [111795586, 111795781], [111798485, 111798660], [111800296, 111800397], [111812562, 111812708], [111812849, 111812972], [111819470, 111819602], [111822633, 111822732], [111826756, 111826847], [111835635, 111835718], [111843118, 111843223], [111849452, 111849573]]
ENST00000491854 [[111782367, 111782785], [111795586, 111795781], [111798485, 111798660], [111800296, 111800397], [111812562, 111812708], [111812849, 111812972], [111819470, 111819602], [111822633, 111822732], [111826756, 111826847], [111835527, 111835718], [111843118, 111843223], [111849452, 111849622], [111853201, 111853435], [111855754, 111855871], [111868787, 111868889], [111870732, 111870768]] [[111835631, 111835718], [111843118, 111843223], [111849452, 111849622], [111853201, 111853435], [111855754, 111855871], [111868787, 111868836]]
ENST00000472207 [[111781205, 111782785], [111795586, 111795781], [111798485, 111798660], [111800296, 111801607]] None
ENST00000482868 [[111798299, 111798660], [111800296, 111800490]] None
NM_032012 [[111777414, 111782785], [111795586, 111795781], [111798485, 111798660], [111800296, 111800397], [111812562, 111812708], [111812849, 111812972], [111819470, 111819602], [111822633, 111822732], [111826756, 111826847], [111835635, 111835718], [111843118, 111843223], [111848276, 111848300], [111849452, 111849622], [111853201, 111853435], [111855754, 111855871], [111868787, 111868889], [111870732, 111870850], [111881614, 111882225]] [[111782739, 111782785], [111795586, 111795781], [111798485, 111798660], [111800296, 111800397], [111812562, 111812708], [111812849, 111812972], [111819470, 111819602], [111822633, 111822732], [111826756, 111826847], [111835635, 111835718], [111843118, 111843223], [111848276, 111848300], [111849452, 111849622], [111853201, 111853435], [111855754, 111855871], [111868787, 111868889], [111870732, 111870850], [111881614, 111882193]]
Promoter
Chrom Start End Description
chr9 111881778 111881853 CAGE_peak_2_at_C9orf5_5end
chr9 111881868 111881879 CAGE_peak_4_at_C9orf5_5end
chr9 111882195 111882255 CAGE_peak_1_at_C9orf5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I108883 108882374 108890463 0.98 [{'connected_gene': 'CTNNAL1', 'score': 19.8}, {'connected_gene': 'ELP1', 'score': 16.38}, {'connected_gene': 'FRRS1L', 'score': 16.34}, {'connected_gene': 'ACTL7A', 'score': 12.26}, {'connected_gene': 'ACTL7B', 'score': 11.69}, {'connected_gene': 'FAM206A', 'score': 11.2}, {'connected_gene': 'EPB41L4B', 'score': 9.82}, {'connected_gene': 'TMEM245', 'score': 8.29}, {'connected_gene': 'RPL31P43', 'score': 4.62}]
chr9 GH09I109148 109148800 109150449 0.38 [{'connected_gene': 'CTNNAL1', 'score': 16.8}, {'connected_gene': 'ELP1', 'score': 11.86}, {'connected_gene': 'TMEM245', 'score': 8.99}, {'connected_gene': 'FRRS1L', 'score': 8.6}, {'connected_gene': 'GC09M109131', 'score': 0.39}, {'connected_gene': 'GC09M109159', 'score': 0.39}]
chr9 GH09I109123 109123766 109124476 0.69 [{'connected_gene': 'CTNNAL1', 'score': 23.09}, {'connected_gene': 'ELP1', 'score': 11.77}, {'connected_gene': 'TMEM245', 'score': 0.77}, {'connected_gene': 'GC09M109131', 'score': 0.39}]
chr9 GH09I109122 109122671 109123699 1.33 [{'connected_gene': 'CTNNAL1', 'score': 23.11}, {'connected_gene': 'ELP1', 'score': 8.15}, {'connected_gene': 'TMEM245', 'score': 0.77}, {'connected_gene': 'GC09M109131', 'score': 0.39}]
chr9 GH09I109106 109106792 109112434 1.6 [{'connected_gene': 'CTNNAL1', 'score': 29.19}, {'connected_gene': 'FRRS1L', 'score': 28.85}, {'connected_gene': 'ELP1', 'score': 25.05}, {'connected_gene': 'MIR32', 'score': 9.99}, {'connected_gene': 'ENSG00000199331', 'score': 9.99}, {'connected_gene': 'TMEM245', 'score': 0.39}, {'connected_gene': 'GC09M109081', 'score': 0.31}]
chr9 GH09I109010 109010118 109015498 1.99 [{'connected_gene': 'CTNNAL1', 'score': 575.69}, {'connected_gene': 'GC09M109014', 'score': 550.77}, {'connected_gene': 'PIR44811', 'score': 550.77}, {'connected_gene': 'FRRS1L', 'score': 26.86}, {'connected_gene': 'ELP1', 'score': 25.93}, {'connected_gene': 'TMEM245', 'score': 20.44}, {'connected_gene': 'ENSG00000199331', 'score': 11.06}, {'connected_gene': 'MIR32', 'score': 11.05}]
chr9 GH09I109072 109072145 109072830 0.64 [{'connected_gene': 'CTNNAL1', 'score': 35.62}, {'connected_gene': 'FRRS1L', 'score': 28.0}, {'connected_gene': 'MIR32', 'score': 11.91}, {'connected_gene': 'ENSG00000199331', 'score': 11.89}, {'connected_gene': 'TMEM245', 'score': 10.82}, {'connected_gene': 'RNU6-984P', 'score': 10.64}, {'connected_gene': 'GC09M109081', 'score': 0.39}]
chr9 GH09I109128 109128857 109134821 1.13 [{'connected_gene': 'CTNNAL1', 'score': 32.36}, {'connected_gene': 'FRRS1L', 'score': 29.91}, {'connected_gene': 'TMEM245', 'score': 12.48}, {'connected_gene': 'MIR32', 'score': 9.93}, {'connected_gene': 'ENSG00000199331', 'score': 9.93}, {'connected_gene': 'RNU6-984P', 'score': 9.84}, {'connected_gene': 'EPB41L4B', 'score': 9.78}, {'connected_gene': 'GC09M109131', 'score': 0.77}]
chr9 GH09I109091 109091556 109094052 0.46 [{'connected_gene': 'CTNNAL1', 'score': 25.26}, {'connected_gene': 'TMEM245', 'score': 23.63}, {'connected_gene': 'FAM206A', 'score': 10.78}, {'connected_gene': 'ELP1', 'score': 10.78}, {'connected_gene': 'MIR32', 'score': 10.57}, {'connected_gene': 'ENSG00000199331', 'score': 10.56}, {'connected_gene': 'GC09M109081', 'score': 0.44}]
chr9 GH09I109026 109026668 109027677 0.2 [{'connected_gene': 'CTNNAL1', 'score': 20.62}, {'connected_gene': 'TMEM245', 'score': 10.63}, {'connected_gene': 'PIR41041', 'score': 0.44}, {'connected_gene': 'ENSG00000199331', 'score': 0.37}, {'connected_gene': 'GC09M109043', 'score': 0.37}]
chr9 GH09I109096 109096644 109103151 1.32 [{'connected_gene': 'ELP1', 'score': 45.48}, {'connected_gene': 'CTNNAL1', 'score': 34.93}, {'connected_gene': 'FRRS1L', 'score': 28.81}, {'connected_gene': 'TMEM245', 'score': 23.59}, {'connected_gene': 'FAM206A', 'score': 10.78}, {'connected_gene': 'MIR32', 'score': 10.69}, {'connected_gene': 'ENSG00000199331', 'score': 10.68}, {'connected_gene': 'GC09M109081', 'score': 0.37}]
chr9 GH09I109035 109035088 109037689 1.08 [{'connected_gene': 'ELP1', 'score': 26.86}, {'connected_gene': 'CTNNAL1', 'score': 20.73}, {'connected_gene': 'TMEM245', 'score': 10.02}, {'connected_gene': 'ENSG00000199331', 'score': 0.44}, {'connected_gene': 'GC09M109043', 'score': 0.44}, {'connected_gene': 'PIR41041', 'score': 0.37}]
chr9 GH09I109150 109150729 109151502 0.43 [{'connected_gene': 'ELP1', 'score': 11.89}, {'connected_gene': 'TMEM245', 'score': 10.96}, {'connected_gene': 'RNU6-984P', 'score': 10.23}, {'connected_gene': 'EPB41L4B', 'score': 9.66}, {'connected_gene': 'FRRS1L', 'score': 6.13}, {'connected_gene': 'GC09M109159', 'score': 0.44}, {'connected_gene': 'GC09M109131', 'score': 0.37}]
chr9 GH09I108997 108997124 108997465 0.22 [{'connected_gene': 'MIR32', 'score': 10.35}, {'connected_gene': 'ENSG00000199331', 'score': 10.35}, {'connected_gene': 'TMEM245', 'score': 9.32}, {'connected_gene': 'ELP1', 'score': 5.29}, {'connected_gene': 'RNA5-8SP3', 'score': 0.77}, {'connected_gene': 'LOC105376216', 'score': 0.39}, {'connected_gene': 'GC09M109014', 'score': 0.37}, {'connected_gene': 'PIR44811', 'score': 0.37}, {'connected_gene': 'CTNNAL1', 'score': 0.34}]
chr9 GH09I109000 109000901 109001977 0.69 [{'connected_gene': 'MIR32', 'score': 10.37}, {'connected_gene': 'ENSG00000199331', 'score': 10.37}, {'connected_gene': 'TMEM245', 'score': 9.32}, {'connected_gene': 'ELP1', 'score': 5.34}, {'connected_gene': 'RNA5-8SP3', 'score': 0.44}, {'connected_gene': 'GC09M109014', 'score': 0.39}, {'connected_gene': 'PIR44811', 'score': 0.39}, {'connected_gene': 'LOC105376216', 'score': 0.37}, {'connected_gene': 'CTNNAL1', 'score': 0.37}]
chr9 GH09I109023 109023021 109023170 0.7 [{'connected_gene': 'MIR32', 'score': 11.59}, {'connected_gene': 'TMEM245', 'score': 10.2}, {'connected_gene': 'EPB41L4B', 'score': 9.66}, {'connected_gene': 'PIR41041', 'score': 0.77}, {'connected_gene': 'ENSG00000199331', 'score': 0.37}, {'connected_gene': 'GC09M109043', 'score': 0.37}]
chr9 GH09I109002 109002281 109002430 0.2 [{'connected_gene': 'MIR32', 'score': 10.37}, {'connected_gene': 'ENSG00000199331', 'score': 10.37}, {'connected_gene': 'ACTL7A', 'score': 9.43}, {'connected_gene': 'TMEM245', 'score': 9.32}, {'connected_gene': 'RNA5-8SP3', 'score': 0.44}, {'connected_gene': 'GC09M109014', 'score': 0.39}, {'connected_gene': 'PIR44811', 'score': 0.39}, {'connected_gene': 'LOC105376216', 'score': 0.37}, {'connected_gene': 'CTNNAL1', 'score': 0.37}]
chr9 GH09I109060 109060038 109060748 0.31 [{'connected_gene': 'FRRS1L', 'score': 26.85}, {'connected_gene': 'CTNNAL1', 'score': 9.56}, {'connected_gene': 'MIR32', 'score': 0.39}, {'connected_gene': 'GC09M109081', 'score': 0.34}, {'connected_gene': 'TMEM245', 'score': 0.22}]
chr9 GH09I109064 109064252 109066357 0.62 [{'connected_gene': 'FRRS1L', 'score': 27.99}, {'connected_gene': 'ELP1', 'score': 22.23}, {'connected_gene': 'ENSG00000199331', 'score': 12.33}, {'connected_gene': 'TMEM245', 'score': 10.7}, {'connected_gene': 'CTNNAL1', 'score': 9.9}, {'connected_gene': 'ACTL7B', 'score': 9.68}, {'connected_gene': 'MIR32', 'score': 0.37}, {'connected_gene': 'GC09M109081', 'score': 0.37}]
chr9 GH09I109038 109038727 109039876 0.46 [{'connected_gene': 'FRRS1L', 'score': 26.36}, {'connected_gene': 'TMEM245', 'score': 18.83}, {'connected_gene': 'CTNNAL1', 'score': 10.74}, {'connected_gene': 'ENSG00000199331', 'score': 0.77}, {'connected_gene': 'GC09M109043', 'score': 0.77}, {'connected_gene': 'PIR41041', 'score': 0.34}]
chr9 GH09I109034 109034498 109034994 0.31 [{'connected_gene': 'FRRS1L', 'score': 25.13}, {'connected_gene': 'TMEM245', 'score': 10.01}, {'connected_gene': 'ENSG00000199331', 'score': 0.44}, {'connected_gene': 'GC09M109043', 'score': 0.44}, {'connected_gene': 'PIR41041', 'score': 0.37}]
chr9 GH09I109113 109113001 109122010 2.72 [{'connected_gene': 'TMEM245', 'score': 565.89}, {'connected_gene': 'FRRS1L', 'score': 29.15}, {'connected_gene': 'ELP1', 'score': 25.45}, {'connected_gene': 'CTNNAL1', 'score': 25.02}, {'connected_gene': 'MIR32', 'score': 9.98}, {'connected_gene': 'ENSG00000199331', 'score': 9.97}, {'connected_gene': 'FAM206A', 'score': 4.79}, {'connected_gene': 'GC09M109081', 'score': 0.29}]
chr9 GH09I109134 109134841 109134990 0.46 [{'connected_gene': 'GC09M109131', 'score': 550.77}, {'connected_gene': 'CTNNAL1', 'score': 10.17}, {'connected_gene': 'MIR32', 'score': 9.93}, {'connected_gene': 'ENSG00000199331', 'score': 9.92}, {'connected_gene': 'TMEM245', 'score': 0.39}, {'connected_gene': 'FRRS1L', 'score': 0.29}]
chr9 GH09I109135 109135170 109135302 0.31 [{'connected_gene': 'GC09M109131', 'score': 550.77}, {'connected_gene': 'MIR32', 'score': 10.24}, {'connected_gene': 'ENSG00000199331', 'score': 10.23}, {'connected_gene': 'RNU6-984P', 'score': 9.95}, {'connected_gene': 'EPB41L4B', 'score': 9.1}, {'connected_gene': 'TMEM245', 'score': 0.37}, {'connected_gene': 'FRRS1L', 'score': 0.29}]
chr9 GH09I109161 109161893 109164176 0.46 [{'connected_gene': 'GC09M109160', 'score': 550.77}, {'connected_gene': 'FRRS1L', 'score': 12.04}, {'connected_gene': 'TMEM245', 'score': 11.8}, {'connected_gene': 'ELP1', 'score': 5.76}]

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