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
ENST00000253799 [[40996616, 40998231], [41001102, 41001388], [41001617, 41001747], [41002098, 41002724]] [[40996643, 40998231], [41001102, 41001388], [41001617, 41001747], [41002098, 41002365]]
ENST00000452774 [[40996617, 40998231], [41001102, 41001307], [41001617, 41001747], [41002098, 41002721]] [[40996643, 40998231], [41001102, 41001307], [41001617, 41001747], [41002098, 41002365]]
NM_001158 [[40996599, 40998231], [41001102, 41001307], [41001617, 41001747], [41002098, 41002729]] [[40996643, 40998231], [41001102, 41001307], [41001617, 41001747], [41002098, 41002365]]
NM_009590 [[40996599, 40998231], [41001102, 41001388], [41001617, 41001747], [41002098, 41002729]] [[40996643, 40998231], [41001102, 41001388], [41001617, 41001747], [41002098, 41002365]]
Promoter
Chrom Start End Description
chr17 40996590 40996604 CAGE_peak_1_at_AOC2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I042846 42846097 42847387 0.96 [{'connected_gene': 'AOC4P', 'score': 8.98}, {'connected_gene': 'AOC2', 'score': 0.77}, {'connected_gene': 'AOC3', 'score': 0.77}]
chr17 GH17I042832 42832071 42835211 2.1 [{'connected_gene': 'BECN1', 'score': 550.77}, {'connected_gene': 'PSME3', 'score': 550.44}, {'connected_gene': 'NKIRAS2', 'score': 15.45}, {'connected_gene': 'MEOX1', 'score': 14.91}, {'connected_gene': 'ENSG00000212149', 'score': 12.19}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.89}, {'connected_gene': 'RPL27', 'score': 11.88}, {'connected_gene': 'CNTD1', 'score': 11.6}, {'connected_gene': 'COA3', 'score': 11.6}, {'connected_gene': 'STAT3', 'score': 10.52}, {'connected_gene': 'LOC108783654', 'score': 9.75}, {'connected_gene': 'RETREG3', 'score': 9.7}, {'connected_gene': 'AOC4P', 'score': 6.29}, {'connected_gene': 'AOC2', 'score': 0.39}]
chr17 GH17I042850 42850677 42854841 1.7 [{'connected_gene': 'AOC3', 'score': 550.77}, {'connected_gene': 'AOC4P', 'score': 11.69}, {'connected_gene': 'MEOX1', 'score': 4.82}, {'connected_gene': 'AOC2', 'score': 0.44}]
chr17 GH17I042925 42925001 42925200 0.2 [{'connected_gene': 'AOC3', 'score': 12.1}, {'connected_gene': 'AOC2', 'score': 12.09}, {'connected_gene': 'CNTD1', 'score': 10.81}, {'connected_gene': 'COA3', 'score': 10.81}, {'connected_gene': 'VAT1', 'score': 10.59}, {'connected_gene': 'RND2', 'score': 10.59}, {'connected_gene': 'BECN1', 'score': 4.77}, {'connected_gene': 'RNY4P2', 'score': 0.44}, {'connected_gene': 'GC17M042933', 'score': 0.44}, {'connected_gene': 'G6PC', 'score': 0.34}]
chr17 GH17I042849 42849805 42849853 0.82 [{'connected_gene': 'AOC3', 'score': 550.77}, {'connected_gene': 'AOC2', 'score': 0.44}]
chr17 GH17I042817 42817963 42818112 0.2 [{'connected_gene': 'VPS25', 'score': 11.86}, {'connected_gene': 'RAMP2', 'score': 11.82}, {'connected_gene': 'RAMP2-AS1', 'score': 11.82}, {'connected_gene': 'HMGN2P15', 'score': 11.81}, {'connected_gene': 'WNK4', 'score': 11.25}, {'connected_gene': 'AOC2', 'score': 11.09}, {'connected_gene': 'AOC3', 'score': 11.07}, {'connected_gene': 'VAT1', 'score': 10.59}, {'connected_gene': 'RND2', 'score': 10.59}, {'connected_gene': 'PIR60292', 'score': 0.44}, {'connected_gene': 'MIR6781', 'score': 0.44}, {'connected_gene': 'BECN1', 'score': 0.37}]
chr17 GH17I042820 42820063 42820232 0.73 [{'connected_gene': 'VPS25', 'score': 11.85}, {'connected_gene': 'RAMP2-AS1', 'score': 11.82}, {'connected_gene': 'RAMP2', 'score': 11.81}, {'connected_gene': 'HMGN2P15', 'score': 11.8}, {'connected_gene': 'CNTD1', 'score': 11.77}, {'connected_gene': 'COA3', 'score': 11.77}, {'connected_gene': 'WNK4', 'score': 11.23}, {'connected_gene': 'AOC2', 'score': 11.12}, {'connected_gene': 'AOC3', 'score': 11.07}, {'connected_gene': 'VAT1', 'score': 10.59}, {'connected_gene': 'RND2', 'score': 10.59}, {'connected_gene': 'MIR6781', 'score': 0.77}, {'connected_gene': 'PIR60292', 'score': 0.44}, {'connected_gene': 'BECN1', 'score': 0.39}]
chr17 GH17I042802 42802847 42807185 0.81 [{'connected_gene': 'WNK4', 'score': 12.1}, {'connected_gene': 'VPS25', 'score': 11.27}, {'connected_gene': 'RAMP2-AS1', 'score': 11.24}, {'connected_gene': 'RAMP2', 'score': 11.22}, {'connected_gene': 'HMGN2P15', 'score': 11.21}, {'connected_gene': 'EZH1', 'score': 11.06}, {'connected_gene': 'AOC2', 'score': 11.04}, {'connected_gene': 'AOC3', 'score': 11.01}, {'connected_gene': 'PSMC3IP', 'score': 10.79}, {'connected_gene': 'AOC4P', 'score': 6.1}, {'connected_gene': 'DHX58', 'score': 4.86}, {'connected_gene': 'GC17M042805', 'score': 0.77}, {'connected_gene': 'CNTD1', 'score': 0.44}, {'connected_gene': 'COA3', 'score': 0.44}]
chr17 GH17I042878 42878264 42878413 0.75 [{'connected_gene': 'LINC00671', 'score': 13.24}, {'connected_gene': 'G6PC', 'score': 13.24}, {'connected_gene': 'AOC3', 'score': 12.53}, {'connected_gene': 'AOC2', 'score': 12.52}, {'connected_gene': 'RNU6-287P', 'score': 0.39}, {'connected_gene': 'AOC4P', 'score': 0.39}]
chr17 GH17I042843 42843464 42843613 0.99 [{'connected_gene': 'AOC2', 'score': 550.77}, {'connected_gene': 'BECN1', 'score': 0.39}, {'connected_gene': 'PSME3', 'score': 0.37}]
chr17 GH17I042844 42844531 42844590 0.81 [{'connected_gene': 'AOC2', 'score': 550.77}, {'connected_gene': 'BECN1', 'score': 0.39}]
chr17 GH17I042847 42846003 42846073 0.58 [{'connected_gene': 'AOC2', 'score': 550.77}, {'connected_gene': 'AOC3', 'score': 0.44}]
chr17 GH17I042928 42928162 42929973 1.2 [{'connected_gene': 'G6PC', 'score': 13.31}, {'connected_gene': 'LINC00671', 'score': 13.3}, {'connected_gene': 'RNU6-287P', 'score': 13.28}, {'connected_gene': 'AOC3', 'score': 12.38}, {'connected_gene': 'AOC2', 'score': 12.37}, {'connected_gene': 'CNTD1', 'score': 10.8}, {'connected_gene': 'COA3', 'score': 10.8}, {'connected_gene': 'VPS25', 'score': 10.73}, {'connected_gene': 'RAMP2-AS1', 'score': 10.72}, {'connected_gene': 'HMGN2P15', 'score': 10.72}, {'connected_gene': 'RAMP2', 'score': 10.72}, {'connected_gene': 'VAT1', 'score': 10.6}, {'connected_gene': 'RND2', 'score': 10.6}, {'connected_gene': 'ZNF385C', 'score': 4.61}, {'connected_gene': 'RNY4P2', 'score': 0.77}, {'connected_gene': 'GC17M042933', 'score': 0.77}]
chr17 GH17I042823 42823221 42824933 2.04 [{'connected_gene': 'MIR6781', 'score': 550.77}, {'connected_gene': 'PSME3', 'score': 550.77}, {'connected_gene': 'BECN1', 'score': 550.44}, {'connected_gene': 'CNTD1', 'score': 11.97}, {'connected_gene': 'COA3', 'score': 11.97}, {'connected_gene': 'AOC2', 'score': 11.76}, {'connected_gene': 'AOC3', 'score': 11.73}, {'connected_gene': 'VPS25', 'score': 11.55}, {'connected_gene': 'RAMP2-AS1', 'score': 11.53}, {'connected_gene': 'RAMP2', 'score': 11.52}, {'connected_gene': 'HMGN2P15', 'score': 11.51}, {'connected_gene': 'WNK4', 'score': 11.41}, {'connected_gene': 'AARSD1', 'score': 11.15}, {'connected_gene': 'RUNDC1', 'score': 11.14}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 11.14}]
chr17 GH17I042953 42953310 42954460 0.49 [{'connected_gene': 'NBR2', 'score': 25.28}, {'connected_gene': 'RPL27', 'score': 20.12}, {'connected_gene': 'RUNDC1', 'score': 12.65}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 12.65}, {'connected_gene': 'AOC3', 'score': 11.75}, {'connected_gene': 'AOC2', 'score': 11.75}, {'connected_gene': 'CNTD1', 'score': 10.64}, {'connected_gene': 'COA3', 'score': 10.64}, {'connected_gene': 'IFI35', 'score': 5.59}, {'connected_gene': 'GC17P043418', 'score': 0.77}, {'connected_gene': 'AARSD1', 'score': 0.39}]