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
NM_012197 [[125703287, 125703372], [125719289, 125719488], [125746763, 125746998], [125748493, 125748698], [125751575, 125751750], [125752334, 125752492], [125758319, 125758430], [125758817, 125758884], [125759537, 125759640], [125760875, 125761045], [125772632, 125772807], [125777821, 125777915], [125782587, 125782738], [125827626, 125827740], [125832628, 125832703], [125835830, 125835956], [125836563, 125836707], [125838523, 125838565], [125838912, 125839041], [125852036, 125852129], [125852553, 125852664], [125860019, 125860124], [125860993, 125861077], [125861756, 125861828], [125863844, 125864042], [125865369, 125867147]] [[125719338, 125719488], [125746763, 125746998], [125748493, 125748698], [125751575, 125751750], [125752334, 125752492], [125758319, 125758430], [125758817, 125758884], [125759537, 125759640], [125760875, 125761045], [125772632, 125772807], [125777821, 125777915], [125782587, 125782738], [125827626, 125827740], [125832628, 125832703], [125835830, 125835956], [125836563, 125836707], [125838523, 125838565], [125838912, 125839041], [125852036, 125852129], [125852553, 125852664], [125860019, 125860124], [125860993, 125861077], [125861756, 125861828], [125863844, 125864042], [125865369, 125865492]]
Promoter
Chrom Start End Description
chr9 125703282 125703337 CAGE_peak_1_at_RABGAP1_5end
chr9 125795904 125795957 CAGE_peak_2_at_RABGAP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I123173 123173192 123177391 0.96 [{'connected_gene': 'MIR600HG', 'score': 10.66}, {'connected_gene': 'MIR600', 'score': 10.65}, {'connected_gene': 'STRBP', 'score': 10.53}, {'connected_gene': 'RABGAP1', 'score': 8.53}, {'connected_gene': 'GC09M123183', 'score': 0.22}, {'connected_gene': 'PIR44660', 'score': 0.22}]
chr9 GH09I123044 123044682 123044911 0.51 [{'connected_gene': 'MIR600', 'score': 9.51}, {'connected_gene': 'MIR600HG', 'score': 9.5}, {'connected_gene': 'RABGAP1', 'score': 8.05}, {'connected_gene': 'GPR21', 'score': 0.39}, {'connected_gene': 'LOC100422501', 'score': 0.37}]
chr9 GH09I123048 123048322 123050493 1.24 [{'connected_gene': 'MIR600', 'score': 10.38}, {'connected_gene': 'MIR600HG', 'score': 10.38}, {'connected_gene': 'RABGAP1', 'score': 4.65}, {'connected_gene': 'LOC100422501', 'score': 0.39}, {'connected_gene': 'GPR21', 'score': 0.37}]
chr9 GH09I123066 123066285 123068085 0.2 [{'connected_gene': 'MIR600', 'score': 10.86}, {'connected_gene': 'MIR600HG', 'score': 10.84}, {'connected_gene': 'RABGAP1', 'score': 4.44}, {'connected_gene': 'LOC100422501', 'score': 0.77}]
chr9 GH09I123102 123102882 123103031 0.52 [{'connected_gene': 'MIR600', 'score': 0.44}, {'connected_gene': 'LOC100422501', 'score': 0.28}, {'connected_gene': 'RABGAP1', 'score': 0.1}]
chr9 GH09I123438 123438336 123439534 0.69 [{'connected_gene': 'DENND1A', 'score': 2.02}, {'connected_gene': 'GPR21', 'score': 1.84}, {'connected_gene': 'RABGAP1', 'score': 1.19}, {'connected_gene': 'GC09P123406', 'score': 0.29}, {'connected_gene': 'MIR7150', 'score': 0.25}]
chr9 GH09I122930 122930264 122933238 2.05 [{'connected_gene': 'ZBTB26', 'score': 550.77}, {'connected_gene': 'RABGAP1', 'score': 7.57}, {'connected_gene': 'ENSG00000261094', 'score': 0.44}]
chr9 GH09I123224 123224569 123226723 0.89 [{'connected_gene': 'STRBP', 'score': 11.58}, {'connected_gene': 'MIR600HG', 'score': 11.31}, {'connected_gene': 'MIR600', 'score': 11.31}, {'connected_gene': 'RABGAP1', 'score': 7.84}, {'connected_gene': 'GC09M123183', 'score': 0.14}, {'connected_gene': 'PIR44660', 'score': 0.14}]
chr9 GH09I123097 123097035 123097069 0.2 [{'connected_gene': 'STRBP', 'score': 10.59}, {'connected_gene': 'MIR600', 'score': 0.39}, {'connected_gene': 'LOC100422501', 'score': 0.29}, {'connected_gene': 'RABGAP1', 'score': 0.1}]
chr9 GH09I123098 123097351 123098583 0.2 [{'connected_gene': 'STRBP', 'score': 10.77}, {'connected_gene': 'MIR600', 'score': 0.39}, {'connected_gene': 'LOC100422501', 'score': 0.29}, {'connected_gene': 'RABGAP1', 'score': 0.1}]
chr9 GH09I123120 123120956 123121949 0.59 [{'connected_gene': 'STRBP', 'score': 9.88}, {'connected_gene': 'SNORD90', 'score': 9.42}, {'connected_gene': 'RABGAP1', 'score': 6.39}, {'connected_gene': 'GC09M123183', 'score': 0.77}, {'connected_gene': 'PIR44660', 'score': 0.77}]
chr9 GH09I123296 123296232 123298386 0.78 [{'connected_gene': 'STRBP', 'score': 11.96}, {'connected_gene': 'ZBTB26', 'score': 11.53}, {'connected_gene': 'MIR600HG', 'score': 10.33}, {'connected_gene': 'MIR600', 'score': 10.33}, {'connected_gene': 'RABGAP1', 'score': 6.66}, {'connected_gene': 'GC09M123300', 'score': 0.77}]
chr9 GH09I123233 123233648 123236184 0.65 [{'connected_gene': 'STRBP', 'score': 12.13}, {'connected_gene': 'CRB2', 'score': 11.52}, {'connected_gene': 'MIR600HG', 'score': 11.21}, {'connected_gene': 'MIR600', 'score': 11.21}, {'connected_gene': 'RABGAP1', 'score': 5.04}, {'connected_gene': 'GC09M123183', 'score': 0.13}, {'connected_gene': 'PIR44660', 'score': 0.13}]
chr9 GH09I123095 123095001 123096485 0.75 [{'connected_gene': 'STRBP', 'score': 10.59}, {'connected_gene': 'RABGAP1', 'score': 8.0}, {'connected_gene': 'MIR600', 'score': 0.37}, {'connected_gene': 'LOC100422501', 'score': 0.29}]
chr9 GH09I123425 123425511 123425746 0.33 [{'connected_gene': 'GPR21', 'score': 2.21}, {'connected_gene': 'RABGAP1', 'score': 1.34}, {'connected_gene': 'CRB2', 'score': 1.25}, {'connected_gene': 'GC09P123406', 'score': 0.37}, {'connected_gene': 'MIR7150', 'score': 0.22}, {'connected_gene': 'DENND1A', 'score': 0.03}]
chr9 GH09I123034 123034107 123037469 0.86 [{'connected_gene': 'GPR21', 'score': 0.44}, {'connected_gene': 'LOC100422501', 'score': 0.31}, {'connected_gene': 'RABGAP1', 'score': 0.16}]
chr9 GH09I123041 123041069 123042777 0.43 [{'connected_gene': 'GPR21', 'score': 0.39}, {'connected_gene': 'LOC100422501', 'score': 0.34}, {'connected_gene': 'RABGAP1', 'score': 0.15}]
chr9 GH09I122777 122777170 122780168 0.6 [{'connected_gene': 'RABGAP1', 'score': 4.18}, {'connected_gene': 'GC09P122784', 'score': 0.44}, {'connected_gene': 'SKA2P1', 'score': 0.37}]
chr9 GH09I123039 123039204 123040435 0.2 [{'connected_gene': 'RABGAP1', 'score': 8.05}, {'connected_gene': 'GPR21', 'score': 0.44}, {'connected_gene': 'LOC100422501', 'score': 0.34}]
chr9 GH09I123033 123033295 123034085 1.08 [{'connected_gene': 'RABGAP1', 'score': 550.16}, {'connected_gene': 'GPR21', 'score': 0.77}, {'connected_gene': 'LOC100422501', 'score': 0.31}]
chr9 GH09I123042 123042821 123042870 0.4 [{'connected_gene': 'RABGAP1', 'score': 8.05}, {'connected_gene': 'GPR21', 'score': 0.39}, {'connected_gene': 'LOC100422501', 'score': 0.34}]
chr9 GH09I123106 123106967 123107076 0.27 [{'connected_gene': 'RABGAP1', 'score': 7.3}, {'connected_gene': 'OR1L3', 'score': 4.35}, {'connected_gene': 'OR1K1', 'score': 2.56}, {'connected_gene': 'GPR21', 'score': 1.68}, {'connected_gene': 'MIR600', 'score': 0.77}, {'connected_gene': 'LOC100422501', 'score': 0.26}]
chr9 GH09I122939 122939924 122943063 2.02 [{'connected_gene': 'RABGAP1', 'score': 556.97}, {'connected_gene': 'ZBTB6', 'score': 11.88}, {'connected_gene': 'RC3H2', 'score': 11.62}, {'connected_gene': 'ENSG00000261094', 'score': 0.77}, {'connected_gene': 'RNY1P15', 'score': 0.77}]
chr9 GH09I123070 123070772 123072090 0.31 [{'connected_gene': 'RABGAP1', 'score': 8.02}, {'connected_gene': 'LOC100422501', 'score': 0.44}, {'connected_gene': 'MIR600', 'score': 0.26}]
chr9 GH09I123078 123078275 123079073 0.31 [{'connected_gene': 'RABGAP1', 'score': 8.02}, {'connected_gene': 'LOC100422501', 'score': 0.37}, {'connected_gene': 'MIR600', 'score': 0.29}]
chr9 GH09I123071 123070067 123070762 0.2 [{'connected_gene': 'RABGAP1', 'score': 8.03}, {'connected_gene': 'LOC100422501', 'score': 0.44}, {'connected_gene': 'MIR600', 'score': 0.26}]
chr9 GH09I123046 123046542 123046671 0.4 [{'connected_gene': 'RABGAP1', 'score': 4.45}, {'connected_gene': 'LOC100422501', 'score': 0.37}, {'connected_gene': 'GPR21', 'score': 0.37}]
chr9 GH09I123051 123051729 123052734 0.2 [{'connected_gene': 'RABGAP1', 'score': 8.03}, {'connected_gene': 'LOC100422501', 'score': 0.39}, {'connected_gene': 'GPR21', 'score': 0.34}]
chr9 GH09I122092 122092268 122093911 2.25 [{'connected_gene': 'TTLL11', 'score': 562.32}, {'connected_gene': 'ENSG00000261534', 'score': 8.74}, {'connected_gene': 'RABGAP1', 'score': 4.88}, {'connected_gene': 'TTLL11-IT1', 'score': 0.13}]
chr9 GH09I123002 123002751 123004178 0.94 [{'connected_gene': 'ZBTB6', 'score': 12.15}, {'connected_gene': 'SNORD90', 'score': 10.94}, {'connected_gene': 'RABGAP1', 'score': 6.1}, {'connected_gene': 'GC09M123030', 'score': 0.31}, {'connected_gene': 'RNY1P15', 'score': 0.22}]
chr9 GH09I122991 122991062 122992024 0.77 [{'connected_gene': 'ZBTB6', 'score': 11.88}, {'connected_gene': 'ZBTB26', 'score': 11.39}, {'connected_gene': 'SNORD90', 'score': 11.25}, {'connected_gene': 'RABGAP1', 'score': 8.37}, {'connected_gene': 'GC09M123030', 'score': 0.28}, {'connected_gene': 'RNY1P15', 'score': 0.25}]
chr9 GH09I122911 122911920 122914200 2.04 [{'connected_gene': 'ZBTB6', 'score': 550.77}, {'connected_gene': 'RABGAP1', 'score': 5.98}, {'connected_gene': 'RC3H2', 'score': 0.44}]
chr9 GH09I122953 122953884 122954693 0.52 [{'connected_gene': 'ZBTB6', 'score': 12.17}, {'connected_gene': 'RNY1P15', 'score': 0.44}, {'connected_gene': 'RABGAP1', 'score': 0.39}, {'connected_gene': 'GC09M123030', 'score': 0.18}]
chr9 GH09I122944 122944847 122944906 0.87 [{'connected_gene': 'RNY1P15', 'score': 550.77}, {'connected_gene': 'RABGAP1', 'score': 550.77}, {'connected_gene': 'ZBTB6', 'score': 11.86}, {'connected_gene': 'RC3H2', 'score': 11.62}, {'connected_gene': 'ENSG00000233616', 'score': 5.13}]
chr9 GH09I122948 122947401 122947600 0.38 [{'connected_gene': 'RNY1P15', 'score': 550.77}, {'connected_gene': 'ZBTB6', 'score': 12.33}, {'connected_gene': 'SNORD90', 'score': 10.03}, {'connected_gene': 'ENSG00000233616', 'score': 5.13}, {'connected_gene': 'RABGAP1', 'score': 0.44}, {'connected_gene': 'GC09M123030', 'score': 0.18}]
chr9 GH09I122947 122947862 122948051 0.31 [{'connected_gene': 'RNY1P15', 'score': 550.77}, {'connected_gene': 'ZBTB6', 'score': 11.57}, {'connected_gene': 'SNORD90', 'score': 10.14}, {'connected_gene': 'RABGAP1', 'score': 0.44}, {'connected_gene': 'GC09M123030', 'score': 0.18}]
chr9 GH09I123063 123063262 123063411 0.2 [{'connected_gene': 'LOC100422501', 'score': 550.77}, {'connected_gene': 'MIR600', 'score': 10.84}, {'connected_gene': 'MIR600HG', 'score': 10.83}, {'connected_gene': 'SNORD90', 'score': 10.2}, {'connected_gene': 'RABGAP1', 'score': 0.13}]
chr9 GH09I123062 123062602 123062751 0.2 [{'connected_gene': 'LOC100422501', 'score': 550.77}, {'connected_gene': 'MIR600', 'score': 10.79}, {'connected_gene': 'MIR600HG', 'score': 10.77}, {'connected_gene': 'GPR21', 'score': 0.29}, {'connected_gene': 'RABGAP1', 'score': 0.13}]
chr9 GH09I123064 123064515 123065521 0.2 [{'connected_gene': 'LOC100422501', 'score': 550.77}, {'connected_gene': 'MIR600', 'score': 10.84}, {'connected_gene': 'MIR600HG', 'score': 10.83}, {'connected_gene': 'RABGAP1', 'score': 0.13}]
chr9 GH09I123072 123072406 123074847 0.86 [{'connected_gene': 'LOC100422501', 'score': 0.39}, {'connected_gene': 'MIR600', 'score': 0.28}, {'connected_gene': 'RABGAP1', 'score': 0.12}]
chr9 GH09I123081 123081922 123082071 0.57 [{'connected_gene': 'LOC100422501', 'score': 0.37}, {'connected_gene': 'MIR600', 'score': 0.31}, {'connected_gene': 'RABGAP1', 'score': 0.11}]
chr9 GH09I123068 123068662 123070022 0.83 [{'connected_gene': 'LOC100422501', 'score': 0.44}, {'connected_gene': 'MIR600', 'score': 0.26}, {'connected_gene': 'RABGAP1', 'score': 0.13}]
chr9 GH09I123058 123058430 123059269 0.54 [{'connected_gene': 'LOC100422501', 'score': 0.77}, {'connected_gene': 'GPR21', 'score': 0.31}, {'connected_gene': 'RABGAP1', 'score': 0.13}]
chr9 GH09I123052 123052817 123054481 0.38 [{'connected_gene': 'LOC100422501', 'score': 0.44}, {'connected_gene': 'GPR21', 'score': 0.34}, {'connected_gene': 'RABGAP1', 'score': 0.14}]
chr9 GH09I123108 123108492 123112901 0.85 [{'connected_gene': 'PIR57287', 'score': 550.77}, {'connected_gene': 'PIR45965', 'score': 550.77}, {'connected_gene': 'MIR600', 'score': 550.77}, {'connected_gene': 'GC09M123179', 'score': 550.77}, {'connected_gene': 'RABGAP1', 'score': 7.84}, {'connected_gene': 'GC09M123184', 'score': 0.77}, {'connected_gene': 'PIR33429', 'score': 0.77}, {'connected_gene': 'MIR600HG', 'score': 0.77}, {'connected_gene': 'LOC100422501', 'score': 0.25}, {'connected_gene': 'STRBP', 'score': 0.1}]
chr9 GH09I123099 123099701 123100931 0.74 [{'connected_gene': 'ENSG00000261094', 'score': 13.81}, {'connected_gene': 'MIR600', 'score': 0.39}, {'connected_gene': 'LOC100422501', 'score': 0.28}, {'connected_gene': 'RABGAP1', 'score': 0.1}]
chr9 GH09I122902 122902286 122906224 2.28 [{'connected_gene': 'GC09P122904', 'score': 550.77}, {'connected_gene': 'RC3H2', 'score': 550.77}, {'connected_gene': 'ZBTB26', 'score': 11.41}, {'connected_gene': 'SNORD90', 'score': 11.36}, {'connected_gene': 'MRRF', 'score': 9.71}, {'connected_gene': 'RABGAP1', 'score': 5.82}, {'connected_gene': 'MIR600HG', 'score': 4.33}, {'connected_gene': 'PIR42233', 'score': 0.39}]
chr9 GH09I123026 123026942 123027091 0.51 [{'connected_gene': 'GC09M123030', 'score': 0.77}, {'connected_gene': 'RNY1P15', 'score': 0.18}, {'connected_gene': 'RABGAP1', 'score': 0.17}]
chr9 GH09I123027 123027275 123029200 0.38 [{'connected_gene': 'GC09M123030', 'score': 550.77}, {'connected_gene': 'RPS25P8', 'score': 550.77}, {'connected_gene': 'GPR21', 'score': 550.77}, {'connected_gene': 'RABGAP1', 'score': 8.07}, {'connected_gene': 'RNY1P15', 'score': 0.18}]