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
ENST00000373479 [[37321747, 37322051], [37328221, 37328350], [37336259, 37336994], [37339287, 37339350], [37342395, 37342485], [37344701, 37344809], [37348925, 37349130], [37358517, 37362514]] [[37321940, 37322051], [37328221, 37328350], [37336259, 37336994], [37339287, 37339350], [37342395, 37342485], [37344701, 37344809], [37348925, 37349130], [37358517, 37358534]]
ENST00000229866 [[37321790, 37322051], [37328221, 37328350], [37336153, 37336994], [37339287, 37339350], [37342395, 37342485], [37344701, 37344809], [37348925, 37349130], [37358517, 37358944]] [[37321940, 37322051], [37328221, 37328350], [37336153, 37336210]]
ENST00000469731 [[37321866, 37322051], [37328221, 37328350], [37336259, 37336994], [37339287, 37339350], [37342395, 37342485], [37344701, 37344809], [37358517, 37359007]] [[37321940, 37322051], [37328221, 37328350], [37336259, 37336994], [37339287, 37339350], [37342395, 37342485], [37344701, 37344809], [37358517, 37358628]]
ENST00000498460 [[37336651, 37336994], [37339287, 37339350], [37344701, 37344809], [37358517, 37358838]] [[37336651, 37336994], [37339287, 37339350], [37344701, 37344809], [37358517, 37358628]]
ENST00000494320 [[37321754, 37322051], [37326958, 37327118], [37328221, 37328350], [37336259, 37336650]] [[37321940, 37322051], [37326958, 37326997]]
ENST00000394443 [[37321818, 37322051], [37328221, 37328350], [37336153, 37336210]] [[37321940, 37322051], [37328221, 37328350], [37336153, 37336210]]
ENST00000487950 [[37321839, 37321894], [37328221, 37328350], [37336259, 37336806]] [[37328281, 37328350], [37336259, 37336806]]
ENST00000479516 [[37321847, 37322051], [37328221, 37328350], [37336259, 37336994], [37337566, 37338023]] None
ENST00000469316 [[37321848, 37322051], [37328221, 37328350], [37329113, 37329334], [37336259, 37336314]] [[37321940, 37322051], [37328221, 37328350], [37329113, 37329143]]
NM_183078 [[37321747, 37322051], [37328221, 37328350], [37336259, 37336994], [37339287, 37339350], [37342395, 37342485], [37344701, 37344809], [37358517, 37362514]] [[37321940, 37322051], [37328221, 37328350], [37336259, 37336994], [37339287, 37339350], [37342395, 37342485], [37344701, 37344809], [37358517, 37358628]]
NM_003958 [[37321747, 37322051], [37328221, 37328350], [37336259, 37336994], [37339287, 37339350], [37342395, 37342485], [37344701, 37344809], [37348925, 37349130], [37358517, 37362514]] [[37321940, 37322051], [37328221, 37328350], [37336259, 37336994], [37339287, 37339350], [37342395, 37342485], [37344701, 37344809], [37348925, 37349130], [37358517, 37358534]]
NR_046399 [[37321747, 37322051], [37328221, 37328350], [37336153, 37336994], [37339287, 37339350], [37342395, 37342485], [37344701, 37344809], [37348925, 37349130], [37358517, 37362514]] None
Promoter
Chrom Start End Description
chr6 37321751 37321815 CAGE_peak_1_at_RNF8_5end
chr6 37321823 37321857 CAGE_peak_2_at_RNF8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I037101 37100977 37108212 1.87 [{'connected_gene': 'PIM1', 'score': 13.94}, {'connected_gene': 'FGD2', 'score': 13.46}, {'connected_gene': 'COX6A1P2', 'score': 12.28}, {'connected_gene': 'TBC1D22B', 'score': 12.07}, {'connected_gene': 'SRSF3', 'score': 11.39}, {'connected_gene': 'TMEM217', 'score': 6.3}, {'connected_gene': 'RNF8', 'score': 5.33}, {'connected_gene': 'CDKN1A', 'score': 3.09}, {'connected_gene': 'CMTR1', 'score': 1.4}, {'connected_gene': 'GC06P042396', 'score': 0.39}, {'connected_gene': 'RPL12P2', 'score': 0.39}, {'connected_gene': 'GC06P042411', 'score': 0.31}]
chr6 GH06I037302 37302129 37302396 1.41 [{'connected_gene': 'RNF8', 'score': 10.92}, {'connected_gene': 'TBC1D22B', 'score': 4.61}, {'connected_gene': 'C6orf89', 'score': 1.86}, {'connected_gene': 'ENSG00000275550', 'score': 0.44}]
chr6 GH06I037311 37311375 37312854 0.74 [{'connected_gene': 'RNF8', 'score': 11.25}, {'connected_gene': 'ENSG00000275550', 'score': 0.37}, {'connected_gene': 'TBC1D22B', 'score': 0.23}]
chr6 GH06I037303 37302543 37302663 0.75 [{'connected_gene': 'RNF8', 'score': 10.92}, {'connected_gene': 'ENSG00000275550', 'score': 0.44}, {'connected_gene': 'TBC1D22B', 'score': 0.26}]
chr6 GH06I037324 37324205 37326046 1.19 [{'connected_gene': 'RNF8', 'score': 24.12}, {'connected_gene': 'TMEM217', 'score': 14.23}, {'connected_gene': 'ENSG00000275550', 'score': 0.31}, {'connected_gene': 'TBC1D22B', 'score': 0.2}]
chr6 GH06I037381 37381645 37381834 0.84 [{'connected_gene': 'RNF8', 'score': 11.31}, {'connected_gene': 'RN7SL273P', 'score': 0.34}, {'connected_gene': 'CMTR1', 'score': 0.23}]
chr6 GH06I037353 37353405 37355401 2.03 [{'connected_gene': 'RNF8', 'score': 550.77}, {'connected_gene': 'LOC105375040', 'score': 550.77}, {'connected_gene': 'SRSF3', 'score': 17.91}, {'connected_gene': 'TMEM217', 'score': 8.02}, {'connected_gene': 'RN7SL273P', 'score': 0.44}]
chr6 GH06I037423 37423745 37424034 0.85 [{'connected_gene': 'SRSF3', 'score': 22.61}, {'connected_gene': 'RNF8', 'score': 10.7}, {'connected_gene': 'KCTD20', 'score': 10.05}, {'connected_gene': 'CMTR1', 'score': 0.44}, {'connected_gene': 'RN7SL273P', 'score': 0.21}]
chr6 GH06I036592 36592069 36602768 3.18 [{'connected_gene': 'SRSF3', 'score': 628.15}, {'connected_gene': 'KCTD20', 'score': 42.04}, {'connected_gene': 'MAPK14', 'score': 26.68}, {'connected_gene': 'CDKN1A', 'score': 26.47}, {'connected_gene': 'RAB44', 'score': 24.13}, {'connected_gene': 'STK38', 'score': 20.71}, {'connected_gene': 'BRPF3', 'score': 18.59}, {'connected_gene': 'FKBP5', 'score': 18.5}, {'connected_gene': 'ETV7', 'score': 13.41}, {'connected_gene': 'RNF8', 'score': 12.04}, {'connected_gene': 'CMTR1', 'score': 11.48}, {'connected_gene': 'LAP3P2', 'score': 11.36}, {'connected_gene': 'ENSG00000251864', 'score': 11.36}, {'connected_gene': 'FGD2', 'score': 10.92}, {'connected_gene': 'PXT1', 'score': 10.49}, {'connected_gene': 'C6orf89', 'score': 10.23}, {'connected_gene': 'ENSG00000237719', 'score': 10.15}, {'connected_gene': 'MIR3925', 'score': 0.31}]
chr6 GH06I037305 37305460 37309983 0.75 [{'connected_gene': 'SRSF3', 'score': 19.0}, {'connected_gene': 'TMEM217', 'score': 14.28}, {'connected_gene': 'TBC1D22B', 'score': 11.61}, {'connected_gene': 'RNF8', 'score': 11.18}, {'connected_gene': 'CMTR1', 'score': 10.66}, {'connected_gene': 'STK38', 'score': 10.55}, {'connected_gene': 'ENSG00000275550', 'score': 0.39}]
chr6 GH06I037304 37304037 37304325 0.92 [{'connected_gene': 'TBC1D22B', 'score': 26.38}, {'connected_gene': 'PIM1', 'score': 14.75}, {'connected_gene': 'RNF8', 'score': 10.45}, {'connected_gene': 'FGD2', 'score': 9.58}, {'connected_gene': 'ENSG00000275550', 'score': 0.44}]
chr6 GH06I037310 37310697 37310826 0.31 [{'connected_gene': 'TBC1D22B', 'score': 11.61}, {'connected_gene': 'RNF8', 'score': 11.29}, {'connected_gene': 'ENSG00000275550', 'score': 0.37}]
chr6 GH06I037230 37230225 37230374 0.2 [{'connected_gene': 'TBC1D22B', 'score': 12.39}, {'connected_gene': 'FGD2', 'score': 10.65}, {'connected_gene': 'RNF8', 'score': 9.98}, {'connected_gene': 'PIR49359', 'score': 0.39}, {'connected_gene': 'TMEM217', 'score': 0.31}, {'connected_gene': 'GC06P042411', 'score': 0.1}]
chr6 GH06I036427 36427764 36428592 1.11 [{'connected_gene': 'ETV7', 'score': 38.54}, {'connected_gene': 'LOC105375037', 'score': 11.13}, {'connected_gene': 'STK38', 'score': 10.77}, {'connected_gene': 'MAPK14', 'score': 10.71}, {'connected_gene': 'RNF8', 'score': 10.55}, {'connected_gene': 'PI16', 'score': 10.47}, {'connected_gene': 'PXT1', 'score': 0.39}, {'connected_gene': 'KCTD20', 'score': 0.39}]
chr6 GH06I037648 37648053 37649677 0.82 [{'connected_gene': 'MDGA1', 'score': 34.14}, {'connected_gene': 'RNF8', 'score': 9.41}, {'connected_gene': 'GC06M038599', 'score': 0.77}, {'connected_gene': 'ENSG00000279942', 'score': 0.18}]
chr6 GH06I037644 37644201 37644400 0.83 [{'connected_gene': 'MDGA1', 'score': 14.36}, {'connected_gene': 'RNF8', 'score': 9.71}, {'connected_gene': 'GC06M038599', 'score': 0.44}, {'connected_gene': 'ENSG00000279942', 'score': 0.18}]
chr6 GH06I037693 37693667 37694007 0.36 [{'connected_gene': 'MDGA1', 'score': 15.47}, {'connected_gene': 'RNF8', 'score': 1.2}, {'connected_gene': 'GC06M038599', 'score': 0.26}]
chr6 GH06I037670 37670030 37676967 0.67 [{'connected_gene': 'MDGA1', 'score': 26.47}, {'connected_gene': 'RNF8', 'score': 4.61}, {'connected_gene': 'GC06M038599', 'score': 0.34}]
chr6 GH06I037654 37654065 37654194 0.81 [{'connected_gene': 'MDGA1', 'score': 11.09}, {'connected_gene': 'RNF8', 'score': 9.4}, {'connected_gene': 'GC06M038599', 'score': 0.77}]
chr6 GH06I036983 36983823 36987657 1.8 [{'connected_gene': 'MTCH1', 'score': 556.26}, {'connected_gene': 'CMTR1', 'score': 47.51}, {'connected_gene': 'SRSF3', 'score': 44.06}, {'connected_gene': 'TBC1D22B', 'score': 20.23}, {'connected_gene': 'BRPF3', 'score': 19.35}, {'connected_gene': 'ENSG00000237719', 'score': 10.15}, {'connected_gene': 'RNF8', 'score': 10.06}, {'connected_gene': 'MAPK14', 'score': 9.68}, {'connected_gene': 'PI16', 'score': 0.28}]
chr6 GH06I036641 36641181 36645313 1.31 [{'connected_gene': 'CMTR1', 'score': 12.2}, {'connected_gene': 'BRPF3', 'score': 10.97}, {'connected_gene': 'RNF8', 'score': 10.55}, {'connected_gene': 'ETV7', 'score': 6.32}, {'connected_gene': 'KCTD20', 'score': 5.4}, {'connected_gene': 'SLC26A8', 'score': 4.37}, {'connected_gene': 'GC06M038337', 'score': 0.77}, {'connected_gene': 'RNU1-88P', 'score': 0.77}, {'connected_gene': 'LOC105375038', 'score': 0.77}, {'connected_gene': 'ENSG00000251864', 'score': 0.31}]
chr6 GH06I037473 37473276 37473819 0.62 [{'connected_gene': 'CMTR1', 'score': 11.11}, {'connected_gene': 'MDGA1', 'score': 10.8}, {'connected_gene': 'RNF8', 'score': 10.2}, {'connected_gene': 'CCDC167', 'score': 0.31}]
chr6 GH06I037432 37432439 37434647 2.08 [{'connected_gene': 'CMTR1', 'score': 550.77}, {'connected_gene': 'LINC02520', 'score': 15.77}, {'connected_gene': 'FGD2', 'score': 10.92}, {'connected_gene': 'RNF8', 'score': 10.46}, {'connected_gene': 'CCDC167', 'score': 0.2}]
chr6 GH06I036439 36439381 36446313 2.64 [{'connected_gene': 'KCTD20', 'score': 580.73}, {'connected_gene': 'PXT1', 'score': 560.74}, {'connected_gene': 'ETV7', 'score': 31.87}, {'connected_gene': 'SRSF3', 'score': 15.05}, {'connected_gene': 'LOC105375037', 'score': 10.62}, {'connected_gene': 'RNF8', 'score': 10.55}, {'connected_gene': 'CDKN1A', 'score': 10.33}, {'connected_gene': 'RPL10A', 'score': 10.26}, {'connected_gene': 'PI16', 'score': 10.16}, {'connected_gene': 'MAPK14', 'score': 4.18}, {'connected_gene': 'BRPF3', 'score': 3.4}, {'connected_gene': 'STK38', 'score': 1.46}]
chr6 GH06I037323 37323825 37323974 0.56 [{'connected_gene': 'TMEM217', 'score': 14.24}, {'connected_gene': 'RNF8', 'score': 11.8}, {'connected_gene': 'CMTR1', 'score': 11.24}, {'connected_gene': 'FGD2', 'score': 10.06}, {'connected_gene': 'ENSG00000275550', 'score': 0.31}, {'connected_gene': 'TBC1D22B', 'score': 0.2}]
chr6 GH06I037238 37238402 37247141 2.29 [{'connected_gene': 'TMEM217', 'score': 583.78}, {'connected_gene': 'SRSF3', 'score': 26.91}, {'connected_gene': 'COX6A1P2', 'score': 10.88}, {'connected_gene': 'FGD2', 'score': 10.54}, {'connected_gene': 'RNF8', 'score': 10.52}, {'connected_gene': 'TBC1D22B', 'score': 0.39}, {'connected_gene': 'PIR49359', 'score': 0.34}, {'connected_gene': 'GC06P042411', 'score': 0.1}]
chr6 GH06I037282 37282753 37284592 0.8 [{'connected_gene': 'TMEM217', 'score': 26.21}, {'connected_gene': 'TBC1D22B', 'score': 11.91}, {'connected_gene': 'RNF8', 'score': 10.34}, {'connected_gene': 'MTCH1', 'score': 10.32}, {'connected_gene': 'FGD2', 'score': 10.06}, {'connected_gene': 'PIR45248', 'score': 0.77}, {'connected_gene': 'ENSG00000275550', 'score': 0.39}]
chr6 GH06I037256 37256966 37260873 2.59 [{'connected_gene': 'TMEM217', 'score': 572.44}, {'connected_gene': 'TBC1D22B', 'score': 561.07}, {'connected_gene': 'CMTR1', 'score': 28.41}, {'connected_gene': 'SRSF3', 'score': 12.04}, {'connected_gene': 'RNF8', 'score': 5.73}, {'connected_gene': 'GC06P042411', 'score': 0.09}]
chr6 GH06I037313 37313875 37315574 1.21 [{'connected_gene': 'TMEM217', 'score': 14.26}, {'connected_gene': 'CMTR1', 'score': 11.67}, {'connected_gene': 'RNF8', 'score': 11.27}, {'connected_gene': 'TBC1D22B', 'score': 10.62}, {'connected_gene': 'SRSF3', 'score': 10.42}, {'connected_gene': 'ENSG00000275550', 'score': 0.37}]
chr6 GH06I037359 37359185 37359314 0.31 [{'connected_gene': 'RN7SL273P', 'score': 550.77}, {'connected_gene': 'RNF8', 'score': 0.44}, {'connected_gene': 'LOC105375040', 'score': 0.44}]
chr6 GH06I036675 36675634 36686064 2.36 [{'connected_gene': 'CDKN1A', 'score': 550.77}, {'connected_gene': 'SRSF3', 'score': 61.22}, {'connected_gene': 'CMTR1', 'score': 54.7}, {'connected_gene': 'STK38', 'score': 31.61}, {'connected_gene': 'MAPK14', 'score': 25.93}, {'connected_gene': 'ENSG00000237719', 'score': 21.09}, {'connected_gene': 'RNF8', 'score': 20.24}, {'connected_gene': 'RNU1-88P', 'score': 11.79}, {'connected_gene': 'C6orf89', 'score': 11.25}, {'connected_gene': 'ARMC12', 'score': 11.05}, {'connected_gene': 'BRPF3', 'score': 10.07}, {'connected_gene': 'PI16', 'score': 9.63}, {'connected_gene': 'RAB44', 'score': 7.73}, {'connected_gene': 'ETV7', 'score': 6.18}]
chr6 GH06I037441 37441786 37443599 0.66 [{'connected_gene': 'ENSG00000227920', 'score': 15.39}, {'connected_gene': 'RNF8', 'score': 10.1}, {'connected_gene': 'CMTR1', 'score': 0.44}, {'connected_gene': 'CCDC167', 'score': 0.22}]
chr6 GH06I037278 37278581 37278809 0.4 [{'connected_gene': 'PIR45248', 'score': 550.77}, {'connected_gene': 'TBC1D22B', 'score': 12.08}, {'connected_gene': 'RNF8', 'score': 10.09}, {'connected_gene': 'FGD2', 'score': 9.92}, {'connected_gene': 'TMEM217', 'score': 0.37}]
chr6 GH06I037279 37279905 37280054 0.84 [{'connected_gene': 'PIR45248', 'score': 550.77}, {'connected_gene': 'TBC1D22B', 'score': 12.08}, {'connected_gene': 'RNF8', 'score': 10.1}, {'connected_gene': 'FGD2', 'score': 9.92}, {'connected_gene': 'ENSG00000275550', 'score': 0.37}]
chr6 GH06I037651 37651881 37653805 0.57 [{'connected_gene': 'GC06M038599', 'score': 550.77}, {'connected_gene': 'MDGA1', 'score': 24.24}, {'connected_gene': 'RNF8', 'score': 9.41}]

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