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
ENST00000299563 [[74459912, 74460427], [74500670, 74500744], [74521228, 74521375], [74528640, 74528759], [74545720, 74545820], [74546590, 74553458]] [[74459925, 74460427], [74500670, 74500744], [74521228, 74521375], [74528640, 74528759], [74545720, 74545820], [74546590, 74547775]]
ENST00000527301 [[74547536, 74547806], [74553189, 74553259]] [[74547536, 74547775]]
NM_001098638 [[74459912, 74460427], [74500670, 74500744], [74521228, 74521375], [74528640, 74528759], [74545720, 74545820], [74546590, 74553458]] [[74459925, 74460427], [74500670, 74500744], [74521228, 74521375], [74528640, 74528759], [74545720, 74545820], [74546590, 74547775]]
Promoter
Chrom Start End Description
chr11 74459876 74459930 CAGE_peak_1_at_RNF169_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I075556 75556674 75567142 2.25 [{'connected_gene': 'SERPINH1', 'score': 556.14}, {'connected_gene': 'RPS3', 'score': 23.55}, {'connected_gene': 'RNF169', 'score': 21.42}, {'connected_gene': 'EMSY', 'score': 14.12}, {'connected_gene': 'LOC105369391', 'score': 11.7}, {'connected_gene': 'SNORD15B', 'score': 11.67}, {'connected_gene': 'GDPD5', 'score': 11.34}, {'connected_gene': 'MAP6', 'score': 11.09}, {'connected_gene': 'KLHL35', 'score': 10.69}, {'connected_gene': 'RN7SL239P', 'score': 10.24}, {'connected_gene': 'MOGAT2', 'score': 9.73}, {'connected_gene': 'RPS12P22', 'score': 4.39}]
chr11 GH11I073872 73872018 73877890 2.06 [{'connected_gene': 'PAAF1', 'score': 550.77}, {'connected_gene': 'COA4', 'score': 550.77}, {'connected_gene': 'MRPL48', 'score': 23.76}, {'connected_gene': 'POLD3', 'score': 21.51}, {'connected_gene': 'RNF169', 'score': 10.53}, {'connected_gene': 'PLEKHB1', 'score': 10.11}, {'connected_gene': 'FAM168A', 'score': 6.48}, {'connected_gene': 'CCDC58P5', 'score': 0.34}]
chr11 GH11I073968 73968097 73985029 2.52 [{'connected_gene': 'UCP2', 'score': 559.72}, {'connected_gene': 'POLD3', 'score': 27.32}, {'connected_gene': 'ENSG00000206913', 'score': 20.72}, {'connected_gene': 'RNF169', 'score': 20.39}, {'connected_gene': 'UCP3', 'score': 11.68}, {'connected_gene': 'RN7SL239P', 'score': 9.76}, {'connected_gene': 'MRPL48', 'score': 8.49}, {'connected_gene': 'DNAJB13', 'score': 8.09}, {'connected_gene': 'P4HA3', 'score': 7.96}, {'connected_gene': 'PPME1', 'score': 7.74}, {'connected_gene': 'LOC100421622', 'score': 7.26}, {'connected_gene': 'PAAF1', 'score': 6.92}, {'connected_gene': 'ENSG00000255847', 'score': 0.44}]
chr11 GH11I075398 75398897 75403686 2.11 [{'connected_gene': 'RPS3', 'score': 588.89}, {'connected_gene': 'SNORD15A', 'score': 550.77}, {'connected_gene': 'GC11P075414', 'score': 550.77}, {'connected_gene': 'GC11P075411', 'score': 550.77}, {'connected_gene': 'GC11P075418', 'score': 550.77}, {'connected_gene': 'PIR55667', 'score': 550.77}, {'connected_gene': 'GC11P075412', 'score': 550.77}, {'connected_gene': 'POLD3', 'score': 49.45}, {'connected_gene': 'RNF169', 'score': 38.63}, {'connected_gene': 'KLHL35', 'score': 28.88}, {'connected_gene': 'SERPINH1', 'score': 14.74}, {'connected_gene': 'SNORD15B', 'score': 12.34}, {'connected_gene': 'UVRAG', 'score': 12.04}, {'connected_gene': 'GDPD5', 'score': 10.99}, {'connected_gene': 'RN7SL239P', 'score': 10.24}, {'connected_gene': 'GC11P075416', 'score': 0.77}]
chr11 GH11I075371 75371494 75373996 1.14 [{'connected_gene': 'RPS3', 'score': 14.57}, {'connected_gene': 'RNF169', 'score': 14.45}, {'connected_gene': 'SNORD15B', 'score': 12.63}, {'connected_gene': 'POLD3', 'score': 12.46}, {'connected_gene': 'RN7SL239P', 'score': 10.23}, {'connected_gene': 'ARRB1', 'score': 7.72}]
chr11 GH11I073757 73757396 73762012 2.07 [{'connected_gene': 'RAB6A', 'score': 550.77}, {'connected_gene': 'ENSG00000256034', 'score': 550.77}, {'connected_gene': 'MRPL48', 'score': 30.45}, {'connected_gene': 'POLD3', 'score': 18.01}, {'connected_gene': 'ENSG00000206913', 'score': 13.5}, {'connected_gene': 'ENSG00000255928', 'score': 10.51}, {'connected_gene': 'PAAF1', 'score': 10.38}, {'connected_gene': 'COA4', 'score': 10.38}, {'connected_gene': 'RNF169', 'score': 9.85}, {'connected_gene': 'PLEKHB1', 'score': 9.17}, {'connected_gene': 'GC11P073724', 'score': 0.28}]
chr11 GH11I073786 73786738 73789983 2.14 [{'connected_gene': 'MRPL48', 'score': 568.12}, {'connected_gene': 'POLD3', 'score': 58.83}, {'connected_gene': 'ENSG00000206913', 'score': 43.22}, {'connected_gene': 'RNF169', 'score': 29.89}, {'connected_gene': 'ARPC3P4', 'score': 25.4}, {'connected_gene': 'RAB6A', 'score': 22.67}, {'connected_gene': 'C2CD3', 'score': 20.55}, {'connected_gene': 'P4HA3', 'score': 12.73}, {'connected_gene': 'ENSG00000256034', 'score': 11.57}, {'connected_gene': 'ENSG00000254837', 'score': 10.7}, {'connected_gene': 'PLEKHB1', 'score': 8.09}, {'connected_gene': 'GC11M073833', 'score': 0.26}, {'connected_gene': 'RN7SKP243', 'score': 0.26}]
chr11 GH11I074169 74169692 74173227 2.28 [{'connected_gene': 'PPME1', 'score': 567.2}, {'connected_gene': 'C2CD3', 'score': 558.32}, {'connected_gene': 'GC11P074171', 'score': 550.77}, {'connected_gene': 'POLD3', 'score': 43.38}, {'connected_gene': 'ENSG00000206913', 'score': 42.01}, {'connected_gene': 'RNF169', 'score': 28.49}, {'connected_gene': 'P4HA3', 'score': 20.46}, {'connected_gene': 'PAAF1', 'score': 9.76}, {'connected_gene': 'RN7SL239P', 'score': 9.76}]
chr11 GH11I074678 74678149 74679136 0.57 [{'connected_gene': 'RPS12P22', 'score': 15.01}, {'connected_gene': 'KCNE3', 'score': 14.08}, {'connected_gene': 'RANP3', 'score': 11.94}, {'connected_gene': 'CHRDL2', 'score': 11.13}, {'connected_gene': 'RNF169', 'score': 10.3}, {'connected_gene': 'RN7SKP297', 'score': 0.44}, {'connected_gene': 'GC11P074653', 'score': 0.31}]
chr11 GH11I075327 75327294 75353678 2.83 [{'connected_gene': 'ARRB1', 'score': 561.78}, {'connected_gene': 'POLD3', 'score': 27.02}, {'connected_gene': 'GDPD5', 'score': 14.11}, {'connected_gene': 'SNORD15B', 'score': 10.76}, {'connected_gene': 'KLHL35', 'score': 10.37}, {'connected_gene': 'XRRA1', 'score': 10.15}, {'connected_gene': 'RNF169', 'score': 9.85}, {'connected_gene': 'NEU3', 'score': 6.23}, {'connected_gene': 'RPS3', 'score': 5.72}, {'connected_gene': 'ENSG00000254974', 'score': 4.77}, {'connected_gene': 'UVRAG', 'score': 3.32}, {'connected_gene': 'SPCS2', 'score': 2.35}, {'connected_gene': 'DGAT2', 'score': 1.66}, {'connected_gene': 'MIR326', 'score': 0.44}, {'connected_gene': 'PIR38786', 'score': 0.39}, {'connected_gene': 'GC11M075328', 'score': 0.39}, {'connected_gene': 'GC11M075327', 'score': 0.39}]
chr11 GH11I075174 75174303 75175799 1.35 [{'connected_gene': 'P4HA3', 'score': 12.73}, {'connected_gene': 'ENSG00000206913', 'score': 10.6}, {'connected_gene': 'POLD3', 'score': 10.51}, {'connected_gene': 'NEU3', 'score': 9.36}, {'connected_gene': 'XRRA1', 'score': 4.87}, {'connected_gene': 'SPCS2', 'score': 2.81}, {'connected_gene': 'ARRB1', 'score': 1.3}, {'connected_gene': 'RNF169', 'score': 1.27}, {'connected_gene': 'ENSG00000255395', 'score': 0.29}, {'connected_gene': 'ZDHHC20P3', 'score': 0.23}, {'connected_gene': 'SLCO2B1', 'score': 0.19}]
chr11 GH11I074753 74753513 74756344 1.2 [{'connected_gene': 'CHRDL2', 'score': 11.24}, {'connected_gene': 'XRRA1', 'score': 8.94}, {'connected_gene': 'RNF169', 'score': 8.55}, {'connected_gene': 'POLD3', 'score': 1.87}, {'connected_gene': 'ENSG00000278879', 'score': 0.18}]
chr11 GH11I074956 74956729 74956894 0.55 [{'connected_gene': 'RNF169', 'score': 3.56}, {'connected_gene': 'SPCS2', 'score': 0.44}, {'connected_gene': 'RNU6-216P', 'score': 0.39}, {'connected_gene': 'GC11M074969', 'score': 0.39}]
chr11 GH11I074747 74747610 74750509 2.05 [{'connected_gene': 'RNF169', 'score': 565.2}, {'connected_gene': 'XRRA1', 'score': 119.21}, {'connected_gene': 'ARPC3P4', 'score': 18.64}, {'connected_gene': 'RPS3', 'score': 14.29}, {'connected_gene': 'ENSG00000206913', 'score': 14.25}, {'connected_gene': 'C2CD3', 'score': 12.83}, {'connected_gene': 'POLD3', 'score': 12.5}, {'connected_gene': 'SNORD15B', 'score': 12.36}, {'connected_gene': 'P4HA3', 'score': 11.83}, {'connected_gene': 'LOC105369391', 'score': 10.57}, {'connected_gene': 'RN7SL239P', 'score': 10.35}, {'connected_gene': 'ENSG00000254837', 'score': 10.17}, {'connected_gene': 'ENSG00000278879', 'score': 0.18}]
chr11 GH11I074782 74782401 74782600 0.2 [{'connected_gene': 'RNF169', 'score': 0.29}, {'connected_gene': 'ENSG00000278879', 'score': 0.23}]
chr11 GH11I074948 74948141 74954761 2.27 [{'connected_gene': 'XRRA1', 'score': 675.03}, {'connected_gene': 'SPCS2', 'score': 550.77}, {'connected_gene': 'POLD3', 'score': 16.13}, {'connected_gene': 'ENSG00000206913', 'score': 12.27}, {'connected_gene': 'RNF169', 'score': 11.99}, {'connected_gene': 'SNORD15B', 'score': 9.89}, {'connected_gene': 'RN7SL239P', 'score': 9.87}, {'connected_gene': 'RNU6-216P', 'score': 0.37}, {'connected_gene': 'GC11M074969', 'score': 0.37}]
chr11 GH11I074819 74819661 74823145 0.74 [{'connected_gene': 'XRRA1', 'score': 17.05}, {'connected_gene': 'RNF169', 'score': 10.93}, {'connected_gene': 'RPS12P22', 'score': 10.92}, {'connected_gene': 'RANP3', 'score': 10.23}, {'connected_gene': 'RPL31P46', 'score': 5.95}, {'connected_gene': 'ENSG00000278879', 'score': 0.39}]
chr11 GH11I074818 74818134 74819600 0.83 [{'connected_gene': 'XRRA1', 'score': 23.34}, {'connected_gene': 'RNF169', 'score': 10.93}, {'connected_gene': 'RPS12P22', 'score': 10.93}, {'connected_gene': 'RANP3', 'score': 10.23}, {'connected_gene': 'ENSG00000278879', 'score': 0.39}]
chr11 GH11I074866 74866983 74867116 0.46 [{'connected_gene': 'XRRA1', 'score': 2.9}, {'connected_gene': 'RNF169', 'score': 2.13}, {'connected_gene': 'OR2AT4', 'score': 1.36}, {'connected_gene': 'RPL31P46', 'score': 0.44}, {'connected_gene': 'RN7SL239P', 'score': 0.34}]
chr11 GH11I074725 74725216 74727285 0.98 [{'connected_gene': 'XRRA1', 'score': 48.9}, {'connected_gene': 'RNF169', 'score': 11.54}, {'connected_gene': 'RPL31P46', 'score': 4.23}, {'connected_gene': 'MIR4696', 'score': 0.44}, {'connected_gene': 'CHRDL2', 'score': 0.44}]
chr11 GH11I074783 74782908 74784999 0.86 [{'connected_gene': 'XRRA1', 'score': 121.96}, {'connected_gene': 'RNF169', 'score': 0.28}, {'connected_gene': 'ENSG00000278879', 'score': 0.25}]
chr11 GH11I074823 74823734 74824102 0.29 [{'connected_gene': 'XRRA1', 'score': 2.06}, {'connected_gene': 'RNF169', 'score': 1.95}, {'connected_gene': 'ENSG00000278879', 'score': 0.44}]
chr11 GH11I074769 74769727 74771280 0.43 [{'connected_gene': 'XRRA1', 'score': 121.68}, {'connected_gene': 'RNF169', 'score': 0.34}, {'connected_gene': 'ENSG00000278879', 'score': 0.21}]
chr11 GH11I074768 74768001 74769141 0.82 [{'connected_gene': 'XRRA1', 'score': 9.68}, {'connected_gene': 'RNF169', 'score': 0.37}, {'connected_gene': 'ENSG00000278879', 'score': 0.21}]
chr11 GH11I075034 75034858 75037507 0.79 [{'connected_gene': 'XRRA1', 'score': 88.47}, {'connected_gene': 'SLCO2B1', 'score': 11.07}, {'connected_gene': 'RNF169', 'score': 4.95}, {'connected_gene': 'PIR37723', 'score': 0.44}, {'connected_gene': 'PIR50270', 'score': 0.34}]
chr11 GH11I075029 75029695 75032716 1.48 [{'connected_gene': 'XRRA1', 'score': 103.46}, {'connected_gene': 'ENSG00000206913', 'score': 22.3}, {'connected_gene': 'POLD3', 'score': 22.06}, {'connected_gene': 'RPS3', 'score': 14.04}, {'connected_gene': 'RNF169', 'score': 13.01}, {'connected_gene': 'P4HA3', 'score': 12.73}, {'connected_gene': 'SNORD15B', 'score': 11.62}, {'connected_gene': 'OR2AT4', 'score': 11.23}, {'connected_gene': 'SLCO2B1', 'score': 11.0}, {'connected_gene': 'RN7SL239P', 'score': 10.3}, {'connected_gene': 'ARRB1', 'score': 1.33}, {'connected_gene': 'PIR37723', 'score': 0.39}, {'connected_gene': 'PIR50270', 'score': 0.37}]
chr11 GH11I075445 75445416 75445565 0.81 [{'connected_gene': 'SNORD15B', 'score': 23.54}, {'connected_gene': 'RPS3', 'score': 14.23}, {'connected_gene': 'EMSY', 'score': 14.11}, {'connected_gene': 'POLD3', 'score': 13.31}, {'connected_gene': 'RNF169', 'score': 12.98}, {'connected_gene': 'GDPD5', 'score': 12.36}, {'connected_gene': 'SERPINH1', 'score': 10.83}, {'connected_gene': 'RN7SL239P', 'score': 10.24}, {'connected_gene': 'PIR48197', 'score': 0.77}, {'connected_gene': 'GC11M075443', 'score': 0.77}, {'connected_gene': 'ENSG00000254460', 'score': 0.21}]
chr11 GH11I074829 74829614 74829965 0.34 [{'connected_gene': 'SLCO2B1', 'score': 1.84}, {'connected_gene': 'ENSG00000278879', 'score': 0.77}, {'connected_gene': 'RNF169', 'score': 0.18}, {'connected_gene': 'XRRA1', 'score': 0.13}]
chr11 GH11I074988 74988152 74990119 1.98 [{'connected_gene': 'NEU3', 'score': 550.77}, {'connected_gene': 'XRRA1', 'score': 17.46}, {'connected_gene': 'POLD3', 'score': 13.08}, {'connected_gene': 'SPCS2', 'score': 11.58}, {'connected_gene': 'RPS3', 'score': 11.29}, {'connected_gene': 'RNF169', 'score': 10.24}, {'connected_gene': 'ENSG00000206913', 'score': 10.16}, {'connected_gene': 'PIRC52', 'score': 0.77}]
chr11 GH11I074492 74492124 74494637 2.03 [{'connected_gene': 'POLD3', 'score': 566.85}, {'connected_gene': 'LIPT2', 'score': 555.44}, {'connected_gene': 'ENSG00000254837', 'score': 550.77}, {'connected_gene': 'LOC100287896', 'score': 550.77}, {'connected_gene': 'KCNE3', 'score': 28.22}, {'connected_gene': 'ENSG00000254974', 'score': 20.28}, {'connected_gene': 'ENSG00000206913', 'score': 12.31}, {'connected_gene': 'RNF169', 'score': 11.97}, {'connected_gene': 'ENSG00000254928', 'score': 11.53}, {'connected_gene': 'SNORD15B', 'score': 9.87}, {'connected_gene': 'RN7SL239P', 'score': 9.78}, {'connected_gene': 'UCP3', 'score': 4.22}]
chr11 GH11I074591 74591470 74593994 2.03 [{'connected_gene': 'POLD3', 'score': 566.24}, {'connected_gene': 'ENSG00000206913', 'score': 12.29}, {'connected_gene': 'RNF169', 'score': 12.01}, {'connected_gene': 'KCNE3', 'score': 10.6}, {'connected_gene': 'ENSG00000254928', 'score': 10.25}, {'connected_gene': 'SNORD15B', 'score': 9.87}, {'connected_gene': 'RN7SL239P', 'score': 9.8}, {'connected_gene': 'CHRDL2', 'score': 5.52}, {'connected_gene': 'LOC105369391', 'score': 4.27}, {'connected_gene': 'LOC105369386', 'score': 0.37}, {'connected_gene': 'GC11M074646', 'score': 0.23}]
chr11 GH11I074459 74459744 74463846 2.31 [{'connected_gene': 'KCNE3', 'score': 573.21}, {'connected_gene': 'ENSG00000254974', 'score': 6.09}, {'connected_gene': 'RNF169', 'score': 4.75}, {'connected_gene': 'SPCS2', 'score': 2.78}, {'connected_gene': 'C2CD3', 'score': 1.76}, {'connected_gene': 'ENSG00000254928', 'score': 0.44}, {'connected_gene': 'ENSG00000254631', 'score': 0.21}]
chr11 GH11I074840 74840116 74840265 0.38 [{'connected_gene': 'PIR41487', 'score': 550.77}, {'connected_gene': 'GC11P075389', 'score': 550.77}, {'connected_gene': 'PIR43045', 'score': 550.77}, {'connected_gene': 'PIR53414', 'score': 550.77}, {'connected_gene': 'PIR41967', 'score': 550.77}, {'connected_gene': 'PIR39540', 'score': 550.77}, {'connected_gene': 'GC11P075399', 'score': 550.77}, {'connected_gene': 'GC11M074889', 'score': 550.77}, {'connected_gene': 'GC11P075394', 'score': 550.77}, {'connected_gene': 'PIR39569', 'score': 550.77}, {'connected_gene': 'GC11M074890', 'score': 550.77}, {'connected_gene': 'GC11P075405', 'score': 550.77}, {'connected_gene': 'PIR48776', 'score': 550.77}, {'connected_gene': 'PIR53850', 'score': 550.77}, {'connected_gene': 'GC11P075388', 'score': 550.77}, {'connected_gene': 'GC11P075386', 'score': 550.77}, {'connected_gene': 'PIR61391', 'score': 550.77}, {'connected_gene': 'PIR42234', 'score': 550.77}, {'connected_gene': 'PIR50407', 'score': 550.77}, {'connected_gene': 'GC11P075391', 'score': 550.77}, {'connected_gene': 'PIR48132', 'score': 550.77}, {'connected_gene': 'PIR54660', 'score': 550.77}, {'connected_gene': 'PIR52584', 'score': 550.77}, {'connected_gene': 'PIR54174', 'score': 550.77}, {'connected_gene': 'RNF169', 'score': 0.16}, {'connected_gene': 'XRRA1', 'score': 0.14}]
chr11 GH11I074695 74695735 74698072 1.25 [{'connected_gene': 'GC11M074700', 'score': 550.77}, {'connected_gene': 'POLD3', 'score': 16.16}, {'connected_gene': 'ENSG00000206913', 'score': 12.28}, {'connected_gene': 'RNF169', 'score': 12.14}, {'connected_gene': 'SNORD15B', 'score': 9.87}, {'connected_gene': 'RN7SL239P', 'score': 9.84}, {'connected_gene': 'RPL31P46', 'score': 9.21}, {'connected_gene': 'XRRA1', 'score': 4.56}, {'connected_gene': 'PAAF1', 'score': 4.53}, {'connected_gene': 'RN7SKP297', 'score': 0.39}, {'connected_gene': 'CHRDL2', 'score': 0.29}]

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