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
ENST00000322310 [[140083098, 140083230], [140083517, 140083717], [140084258, 140084822]] [[140083178, 140083230], [140083517, 140083717], [140084258, 140084366]]
ENST00000459860 [[140083111, 140083717], [140084258, 140084822]] None
ENST00000463511 [[140083150, 140083603], [140084258, 140084375]] None
ENST00000464553 [[140083157, 140083230], [140083517, 140083603], [140084258, 140084822]] None
NM_003731 [[140083053, 140083230], [140083517, 140083717], [140084258, 140084822]] [[140083178, 140083230], [140083517, 140083717], [140084258, 140084366]]
Promoter
Chrom Start End Description
chr9 140083083 140083095 CAGE_peak_5_at_SSNA1_5end
chr9 140083099 140083145 CAGE_peak_1_at_SSNA1_5end
chr9 140083148 140083187 CAGE_peak_2_at_SSNA1_5end
chr9 140083196 140083209 CAGE_peak_3_at_SSNA1_5end
chr9 140083539 140083565 CAGE_peak_4_at_SSNA1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I137221 137221486 137232704 2.85 [{'connected_gene': 'RNF224', 'score': 556.63}, {'connected_gene': 'SLC34A3', 'score': 555.96}, {'connected_gene': 'EHMT1', 'score': 17.44}, {'connected_gene': 'LOC651337', 'score': 15.59}, {'connected_gene': 'SDCCAG3', 'score': 15.1}, {'connected_gene': 'ANAPC2', 'score': 12.28}, {'connected_gene': 'RNF208', 'score': 7.2}, {'connected_gene': 'CYSRT1', 'score': 7.15}, {'connected_gene': 'NDOR1', 'score': 6.77}, {'connected_gene': 'MRPL41', 'score': 5.76}, {'connected_gene': 'GRIN1', 'score': 3.3}, {'connected_gene': 'FBXW5', 'score': 2.93}, {'connected_gene': 'NSMF', 'score': 2.57}, {'connected_gene': 'NPDC1', 'score': 2.53}, {'connected_gene': 'ARRDC1-AS1', 'score': 2.52}, {'connected_gene': 'DPH7', 'score': 1.92}, {'connected_gene': 'TPRN', 'score': 1.77}, {'connected_gene': 'NELFB', 'score': 1.57}, {'connected_gene': 'RABL6', 'score': 1.51}, {'connected_gene': 'ABCA2', 'score': 1.5}, {'connected_gene': 'TMEM203', 'score': 1.43}, {'connected_gene': 'SSNA1', 'score': 1.43}]
chr9 GH09I137160 137160773 137166026 0.87 [{'connected_gene': 'DPP7', 'score': 17.29}, {'connected_gene': 'SSNA1', 'score': 12.75}, {'connected_gene': 'ANAPC2', 'score': 12.75}, {'connected_gene': 'TPRN', 'score': 12.7}, {'connected_gene': 'GRIN1', 'score': 12.48}, {'connected_gene': 'MAN1B1', 'score': 12.35}, {'connected_gene': 'NDOR1', 'score': 11.94}, {'connected_gene': 'TMEM203', 'score': 11.94}, {'connected_gene': 'NPDC1', 'score': 5.71}, {'connected_gene': 'EXD3', 'score': 5.58}, {'connected_gene': 'UAP1L1', 'score': 4.82}, {'connected_gene': 'LOC105376328', 'score': 0.44}, {'connected_gene': 'MIR3621', 'score': 0.44}]
chr9 GH09I137187 137187467 137191794 2.3 [{'connected_gene': 'ANAPC2', 'score': 561.32}, {'connected_gene': 'SSNA1', 'score': 558.35}, {'connected_gene': 'PIR44674', 'score': 550.77}, {'connected_gene': 'LOC651337', 'score': 10.79}, {'connected_gene': 'DPH7', 'score': 10.65}, {'connected_gene': 'EHMT1', 'score': 10.16}, {'connected_gene': 'TPRN', 'score': 7.72}, {'connected_gene': 'PIR49240', 'score': 0.39}]
chr9 GH09I137193 137193566 137203331 2.73 [{'connected_gene': 'TPRN', 'score': 551.64}, {'connected_gene': 'EHMT1', 'score': 41.27}, {'connected_gene': 'SDCCAG3', 'score': 24.16}, {'connected_gene': 'LOC651337', 'score': 23.64}, {'connected_gene': 'ANAPC2', 'score': 21.66}, {'connected_gene': 'SNAPC4', 'score': 14.7}, {'connected_gene': 'FAM166A', 'score': 11.83}, {'connected_gene': 'NDOR1', 'score': 11.08}, {'connected_gene': 'INPP5E', 'score': 10.89}, {'connected_gene': 'ZMYND19', 'score': 10.71}, {'connected_gene': 'ARRDC1-AS1', 'score': 9.89}, {'connected_gene': 'SSNA1', 'score': 5.43}, {'connected_gene': 'LCNL1', 'score': 2.06}, {'connected_gene': 'ABCA2', 'score': 1.93}, {'connected_gene': 'PNPLA7', 'score': 1.45}, {'connected_gene': 'C8G', 'score': 1.33}, {'connected_gene': 'PIR49240', 'score': 0.77}, {'connected_gene': 'PIR44674', 'score': 0.44}]
chr9 GH09I137156 137156397 137157598 0.75 [{'connected_gene': 'LOC105376328', 'score': 550.77}, {'connected_gene': 'MAN1B1', 'score': 17.59}, {'connected_gene': 'ANAPC2', 'score': 12.96}, {'connected_gene': 'SSNA1', 'score': 12.44}, {'connected_gene': 'TPRN', 'score': 12.39}, {'connected_gene': 'DPP7', 'score': 12.1}, {'connected_gene': 'NDOR1', 'score': 11.42}, {'connected_gene': 'TMEM203', 'score': 11.42}, {'connected_gene': 'C9orf139', 'score': 11.0}, {'connected_gene': 'ABCA2', 'score': 11.0}, {'connected_gene': 'UAP1L1', 'score': 6.24}, {'connected_gene': 'MIR3621', 'score': 0.39}, {'connected_gene': 'GRIN1', 'score': 0.37}]
chr9 GH09I136884 136884710 136887839 2.23 [{'connected_gene': 'MIR4479', 'score': 550.77}, {'connected_gene': 'TRAF2', 'score': 550.77}, {'connected_gene': 'LOC105376326', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 38.48}, {'connected_gene': 'SDCCAG3', 'score': 24.18}, {'connected_gene': 'ANAPC2', 'score': 22.04}, {'connected_gene': 'PHPT1', 'score': 21.75}, {'connected_gene': 'SNHG7', 'score': 16.35}, {'connected_gene': 'LOC651337', 'score': 15.58}, {'connected_gene': 'MAMDC4', 'score': 12.44}, {'connected_gene': 'AJM1', 'score': 12.42}, {'connected_gene': 'FBXW5', 'score': 11.85}, {'connected_gene': 'C8G', 'score': 11.85}, {'connected_gene': 'LCN12', 'score': 11.84}, {'connected_gene': 'TMEM141', 'score': 11.81}, {'connected_gene': 'PRR31', 'score': 11.74}, {'connected_gene': 'CCDC183-AS1', 'score': 11.55}, {'connected_gene': 'RABL6', 'score': 11.55}, {'connected_gene': 'CCDC183', 'score': 11.54}, {'connected_gene': 'ABCA2', 'score': 11.36}, {'connected_gene': 'C9orf139', 'score': 11.36}, {'connected_gene': 'EXD3', 'score': 10.7}, {'connected_gene': 'MAN1B1', 'score': 10.32}, {'connected_gene': 'DPP7', 'score': 10.31}, {'connected_gene': 'GRIN1', 'score': 10.31}, {'connected_gene': 'SSNA1', 'score': 10.29}, {'connected_gene': 'TPRN', 'score': 10.29}, {'connected_gene': 'DPH7', 'score': 9.84}, {'connected_gene': 'LCNL1', 'score': 5.9}]
chr9 GH09I137166 137166082 137176207 2.11 [{'connected_gene': 'TMEM210', 'score': 550.77}, {'connected_gene': 'LRRC26', 'score': 550.77}, {'connected_gene': 'ENSG00000261793', 'score': 550.77}, {'connected_gene': 'MIR3621', 'score': 550.77}, {'connected_gene': 'MAN1B1', 'score': 22.07}, {'connected_gene': 'TPRN', 'score': 19.45}, {'connected_gene': 'DPH7', 'score': 17.0}, {'connected_gene': 'INPP5E', 'score': 16.36}, {'connected_gene': 'ARRDC1-AS1', 'score': 13.82}, {'connected_gene': 'EXD3', 'score': 13.24}, {'connected_gene': 'NDOR1', 'score': 12.45}, {'connected_gene': 'TMEM203', 'score': 12.45}, {'connected_gene': 'GRIN1', 'score': 12.32}, {'connected_gene': 'DPP7', 'score': 12.25}, {'connected_gene': 'SNAPC4', 'score': 11.86}, {'connected_gene': 'ANAPC2', 'score': 11.64}, {'connected_gene': 'ENSG00000199411', 'score': 11.61}, {'connected_gene': 'QSOX2', 'score': 10.99}, {'connected_gene': 'CCDC183-AS1', 'score': 9.82}, {'connected_gene': 'SSNA1', 'score': 5.49}, {'connected_gene': 'UAP1L1', 'score': 4.84}, {'connected_gene': 'LCNL1', 'score': 2.23}, {'connected_gene': 'ABCA2', 'score': 2.03}, {'connected_gene': 'PAXX', 'score': 1.93}, {'connected_gene': 'CLIC3', 'score': 1.86}, {'connected_gene': 'FUT7', 'score': 1.55}]
chr9 GH09I136881 136881316 136884008 1.4 [{'connected_gene': 'TRAF2', 'score': 550.77}, {'connected_gene': 'PHPT1', 'score': 23.32}, {'connected_gene': 'MAMDC4', 'score': 12.46}, {'connected_gene': 'AJM1', 'score': 12.44}, {'connected_gene': 'TMEM141', 'score': 11.81}, {'connected_gene': 'LCN12', 'score': 11.77}, {'connected_gene': 'PRR31', 'score': 11.73}, {'connected_gene': 'FBXW5', 'score': 11.6}, {'connected_gene': 'C8G', 'score': 11.6}, {'connected_gene': 'RABL6', 'score': 11.39}, {'connected_gene': 'ABCA2', 'score': 11.36}, {'connected_gene': 'C9orf139', 'score': 11.36}, {'connected_gene': 'CCDC183', 'score': 11.36}, {'connected_gene': 'CCDC183-AS1', 'score': 10.91}, {'connected_gene': 'SSNA1', 'score': 10.29}, {'connected_gene': 'ANAPC2', 'score': 10.29}, {'connected_gene': 'TPRN', 'score': 10.29}, {'connected_gene': 'LOC105376326', 'score': 0.77}]
chr9 GH09I137176 137176629 137176778 0.69 [{'connected_gene': 'GC09M137178', 'score': 550.77}, {'connected_gene': 'PIR32559', 'score': 550.77}, {'connected_gene': 'NDOR1', 'score': 18.92}, {'connected_gene': 'ANAPC2', 'score': 15.63}, {'connected_gene': 'MAN1B1', 'score': 13.13}, {'connected_gene': 'EHMT1', 'score': 12.63}, {'connected_gene': 'LOC651337', 'score': 11.33}, {'connected_gene': 'TRAF2', 'score': 10.7}, {'connected_gene': 'DPH7', 'score': 10.19}, {'connected_gene': 'SDCCAG3', 'score': 10.0}, {'connected_gene': 'SSNA1', 'score': 5.53}]