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
ENST00000342783 [[113812967, 113813044], [113813512, 113813578], [113814327, 113814491], [113815261, 113815286], [113817322, 113817436], [113818826, 113818958], [113819366, 113819434], [113824726, 113824844], [113825907, 113826694]] [[113812974, 113813044], [113813512, 113813578], [113814327, 113814491], [113815261, 113815286], [113817322, 113817436], [113818826, 113818958], [113819366, 113819434], [113824726, 113824844], [113825907, 113826419]]
ENST00000375547 [[113812967, 113813044], [113814327, 113814491], [113815261, 113815286], [113817322, 113817436], [113818826, 113818958], [113819366, 113819434], [113824726, 113824844], [113825907, 113826694]] [[113812974, 113813044], [113814327, 113814491], [113815261, 113815286], [113817322, 113817436], [113818826, 113818958], [113819366, 113819434], [113824726, 113824844], [113825907, 113826419]]
ENST00000493630 [[113818832, 113818958], [113819366, 113819434], [113820411, 113820441], [113820658, 113820740], [113824726, 113824828]] None
NM_003891 [[113812967, 113813044], [113814327, 113814491], [113815261, 113815286], [113817322, 113817436], [113818826, 113818958], [113819366, 113819434], [113824726, 113824844], [113825907, 113826698]] [[113812974, 113813044], [113814327, 113814491], [113815261, 113815286], [113817322, 113817436], [113818826, 113818958], [113819366, 113819434], [113824726, 113824844], [113825907, 113826419]]
NM_001256134 [[113812967, 113813044], [113813512, 113813578], [113814327, 113814491], [113815261, 113815286], [113817322, 113817436], [113818826, 113818958], [113819366, 113819434], [113824726, 113824844], [113825907, 113826698]] [[113812974, 113813044], [113813512, 113813578], [113814327, 113814491], [113815261, 113815286], [113817322, 113817436], [113818826, 113818958], [113819366, 113819434], [113824726, 113824844], [113825907, 113826419]]
Promoter
Chrom Start End Description
chr13 113812939 113812950 CAGE_peak_2_at_PROZ_5end
chr13 113812956 113812967 CAGE_peak_1_at_PROZ_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I113214 113214607 113217416 1.45 [{'connected_gene': 'PROZ', 'score': 23.22}, {'connected_gene': 'GRTP1', 'score': 10.44}, {'connected_gene': 'ADPRHL1', 'score': 6.96}, {'connected_gene': 'PCID2', 'score': 5.41}, {'connected_gene': 'MCF2L', 'score': 4.19}, {'connected_gene': 'DCUN1D2', 'score': 3.03}, {'connected_gene': 'F10', 'score': 1.67}, {'connected_gene': 'CUL4A', 'score': 0.44}, {'connected_gene': 'PIR53444', 'score': 0.31}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113182 113182982 113189499 1.4 [{'connected_gene': 'PROZ', 'score': 26.95}, {'connected_gene': 'PCID2', 'score': 11.9}, {'connected_gene': 'CUL4A', 'score': 11.9}, {'connected_gene': 'F10-AS1', 'score': 11.03}, {'connected_gene': 'KARSP2', 'score': 11.03}, {'connected_gene': 'F10', 'score': 11.02}, {'connected_gene': 'GRTP1', 'score': 10.68}, {'connected_gene': 'F7', 'score': 10.66}, {'connected_gene': 'LAMP1', 'score': 10.6}, {'connected_gene': 'ENSG00000269356', 'score': 6.33}, {'connected_gene': 'ENSG00000269125', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113175 113175643 113181301 0.97 [{'connected_gene': 'PROZ', 'score': 27.49}, {'connected_gene': 'PCID2', 'score': 21.55}, {'connected_gene': 'CUL4A', 'score': 11.49}, {'connected_gene': 'F10-AS1', 'score': 11.2}, {'connected_gene': 'KARSP2', 'score': 11.2}, {'connected_gene': 'F10', 'score': 11.18}, {'connected_gene': 'F7', 'score': 10.69}, {'connected_gene': 'GRTP1', 'score': 10.67}, {'connected_gene': 'GRTP1-AS1', 'score': 10.56}, {'connected_gene': 'ENSG00000269356', 'score': 6.29}, {'connected_gene': 'ENSG00000269125', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113219 113219274 113221068 1.17 [{'connected_gene': 'PROZ', 'score': 21.15}, {'connected_gene': 'PCID2', 'score': 0.39}, {'connected_gene': 'CUL4A', 'score': 0.39}, {'connected_gene': 'PIR53444', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113205 113205213 113206135 0.66 [{'connected_gene': 'PROZ', 'score': 26.44}, {'connected_gene': 'PCID2', 'score': 5.94}, {'connected_gene': 'CUL4A', 'score': 0.77}, {'connected_gene': 'ENSG00000269125', 'score': 0.26}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113218 113218105 113219056 0.2 [{'connected_gene': 'PROZ', 'score': 20.98}, {'connected_gene': 'PCID2', 'score': 0.44}, {'connected_gene': 'CUL4A', 'score': 0.39}, {'connected_gene': 'PIR53444', 'score': 0.34}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113203 113203001 113205055 0.66 [{'connected_gene': 'PROZ', 'score': 17.53}, {'connected_gene': 'PCID2', 'score': 9.28}, {'connected_gene': 'CUL4A', 'score': 0.77}, {'connected_gene': 'ENSG00000269125', 'score': 0.28}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113169 113169488 113171835 1.02 [{'connected_gene': 'PROZ', 'score': 15.68}, {'connected_gene': 'F10-AS1', 'score': 11.03}, {'connected_gene': 'KARSP2', 'score': 11.03}, {'connected_gene': 'F10', 'score': 11.02}, {'connected_gene': 'GRTP1', 'score': 9.89}, {'connected_gene': 'ENSG00000269125', 'score': 0.44}, {'connected_gene': 'CUL4A', 'score': 0.28}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113190 113190206 113191457 0.31 [{'connected_gene': 'PROZ', 'score': 26.73}, {'connected_gene': 'F10-AS1', 'score': 11.02}, {'connected_gene': 'KARSP2', 'score': 11.02}, {'connected_gene': 'F10', 'score': 11.01}, {'connected_gene': 'LAMP1', 'score': 10.61}, {'connected_gene': 'GRTP1-AS1', 'score': 10.6}, {'connected_gene': 'GRTP1', 'score': 10.6}, {'connected_gene': 'PCID2', 'score': 0.37}, {'connected_gene': 'CUL4A', 'score': 0.37}, {'connected_gene': 'ENSG00000269125', 'score': 0.31}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113151 113151745 113155318 1.44 [{'connected_gene': 'PROZ', 'score': 558.01}, {'connected_gene': 'LOC102724474', 'score': 550.77}, {'connected_gene': 'PCID2', 'score': 19.21}, {'connected_gene': 'TUBGCP3', 'score': 16.33}, {'connected_gene': 'F10-AS1', 'score': 10.96}, {'connected_gene': 'KARSP2', 'score': 10.96}, {'connected_gene': 'F10', 'score': 10.91}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.75}, {'connected_gene': 'CUL4A', 'score': 3.29}, {'connected_gene': 'ATP11A', 'score': 1.33}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113194 113194868 113195594 0.2 [{'connected_gene': 'PROZ', 'score': 10.84}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.11}, {'connected_gene': 'DCUN1D2', 'score': 9.11}, {'connected_gene': 'PCID2', 'score': 0.39}, {'connected_gene': 'CUL4A', 'score': 0.39}, {'connected_gene': 'ENSG00000269125', 'score': 0.29}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113196 113196448 113197905 0.4 [{'connected_gene': 'PROZ', 'score': 23.32}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.08}, {'connected_gene': 'DCUN1D2', 'score': 10.08}, {'connected_gene': 'PCID2', 'score': 0.39}, {'connected_gene': 'CUL4A', 'score': 0.39}, {'connected_gene': 'ENSG00000269125', 'score': 0.29}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113192 113192491 113194481 0.74 [{'connected_gene': 'PROZ', 'score': 22.95}, {'connected_gene': 'GRTP1-AS1', 'score': 10.61}, {'connected_gene': 'GRTP1', 'score': 10.6}, {'connected_gene': 'LAMP1', 'score': 10.45}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.41}, {'connected_gene': 'DCUN1D2', 'score': 9.41}, {'connected_gene': 'CUL4A', 'score': 0.39}, {'connected_gene': 'PCID2', 'score': 0.37}, {'connected_gene': 'ENSG00000269125', 'score': 0.31}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113158 113158508 113158567 1.15 [{'connected_gene': 'PROZ', 'score': 550.77}, {'connected_gene': 'ENSG00000269125', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113159 113158947 113159096 0.31 [{'connected_gene': 'PROZ', 'score': 9.79}, {'connected_gene': 'ENSG00000269125', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113232 113232063 113233245 0.52 [{'connected_gene': 'PCID2', 'score': 16.78}, {'connected_gene': 'PROZ', 'score': 13.5}, {'connected_gene': 'CUL4A', 'score': 11.81}, {'connected_gene': 'LAMP1', 'score': 10.6}, {'connected_gene': 'PIR53444', 'score': 0.39}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113206 113206329 113211354 2.33 [{'connected_gene': 'PCID2', 'score': 621.79}, {'connected_gene': 'CUL4A', 'score': 550.77}, {'connected_gene': 'TUBGCP3', 'score': 88.5}, {'connected_gene': 'PROZ', 'score': 26.44}, {'connected_gene': 'GAS6-AS1', 'score': 19.71}, {'connected_gene': 'GAS6', 'score': 12.12}, {'connected_gene': 'LAMP1', 'score': 10.22}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I113489 113489103 113496555 2.58 [{'connected_gene': 'TMCO3', 'score': 584.44}, {'connected_gene': 'DCUN1D2', 'score': 556.21}, {'connected_gene': 'TUBGCP3', 'score': 19.83}, {'connected_gene': 'PCID2', 'score': 14.74}, {'connected_gene': 'GRTP1', 'score': 13.18}, {'connected_gene': 'CDC16', 'score': 12.15}, {'connected_gene': 'DCUN1D2-AS', 'score': 11.64}, {'connected_gene': 'ADPRHL1', 'score': 11.09}, {'connected_gene': 'CHAMP1', 'score': 10.19}, {'connected_gene': 'GRTP1-AS1', 'score': 9.92}, {'connected_gene': 'F7', 'score': 6.31}, {'connected_gene': 'F10', 'score': 3.88}, {'connected_gene': 'PROZ', 'score': 2.93}, {'connected_gene': 'ENSG00000276916', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.31}]
chr13 GH13I113272 113272531 113275875 1.36 [{'connected_gene': 'LAMP1', 'score': 17.68}, {'connected_gene': 'PROZ', 'score': 15.87}, {'connected_gene': 'CUL4A', 'score': 11.96}, {'connected_gene': 'GRTP1', 'score': 11.29}, {'connected_gene': 'PCID2', 'score': 10.8}, {'connected_gene': 'DCUN1D2-AS', 'score': 10.32}, {'connected_gene': 'DCUN1D2', 'score': 10.31}, {'connected_gene': 'LDHBP1', 'score': 0.77}, {'connected_gene': 'LOC105370377', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.07}]
chr13 GH13I113224 113224348 113224804 0.58 [{'connected_gene': 'LAMP1', 'score': 11.24}, {'connected_gene': 'PROZ', 'score': 10.4}, {'connected_gene': 'F10-AS1', 'score': 10.27}, {'connected_gene': 'KARSP2', 'score': 10.27}, {'connected_gene': 'F10', 'score': 10.25}, {'connected_gene': 'PCID2', 'score': 0.37}, {'connected_gene': 'PIR53444', 'score': 0.37}, {'connected_gene': 'CUL4A', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.06}]
chr13 GH13I112972 112972876 112973181 0.53 [{'connected_gene': 'MCF2L', 'score': 9.94}, {'connected_gene': 'PROZ', 'score': 9.65}, {'connected_gene': 'MCF2L-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000269356', 'score': 0.28}]
chr13 GH13I113026 113026158 113029428 0.6 [{'connected_gene': 'MCF2L', 'score': 20.15}, {'connected_gene': 'PCID2', 'score': 14.52}, {'connected_gene': 'TUBGCP3', 'score': 11.27}, {'connected_gene': 'MCF2L-AS1', 'score': 11.16}, {'connected_gene': 'F10', 'score': 10.7}, {'connected_gene': 'F10-AS1', 'score': 10.7}, {'connected_gene': 'KARSP2', 'score': 10.7}, {'connected_gene': 'PROZ', 'score': 10.11}, {'connected_gene': 'ENSG00000269376', 'score': 0.37}, {'connected_gene': 'PIR52168', 'score': 0.25}]
chr13 GH13I113083 113083067 113084530 0.91 [{'connected_gene': 'MCF2L', 'score': 27.14}, {'connected_gene': 'F7', 'score': 13.58}, {'connected_gene': 'PROZ', 'score': 10.99}, {'connected_gene': 'MCF2L-AS1', 'score': 10.7}, {'connected_gene': 'GC13M113086', 'score': 0.77}, {'connected_gene': 'GC13M113087', 'score': 0.77}, {'connected_gene': 'PIR52168', 'score': 0.44}, {'connected_gene': 'GC13M113076', 'score': 0.05}]
chr13 GH13I113030 113030143 113032437 0.46 [{'connected_gene': 'MCF2L', 'score': 19.5}, {'connected_gene': 'MCF2L-AS1', 'score': 11.14}, {'connected_gene': 'F10', 'score': 10.71}, {'connected_gene': 'F10-AS1', 'score': 10.7}, {'connected_gene': 'KARSP2', 'score': 10.7}, {'connected_gene': 'PROZ', 'score': 10.11}, {'connected_gene': 'TMEM255B', 'score': 4.47}, {'connected_gene': 'ENSG00000269376', 'score': 0.34}, {'connected_gene': 'PIR52168', 'score': 0.26}]
chr13 GH13I113021 113021729 113024188 1.31 [{'connected_gene': 'MCF2L', 'score': 19.22}, {'connected_gene': 'MCF2L-AS1', 'score': 11.4}, {'connected_gene': 'F7', 'score': 11.07}, {'connected_gene': 'PROZ', 'score': 10.37}, {'connected_gene': 'F10', 'score': 10.37}, {'connected_gene': 'F10-AS1', 'score': 10.36}, {'connected_gene': 'KARSP2', 'score': 10.36}, {'connected_gene': 'ENSG00000269376', 'score': 0.39}, {'connected_gene': 'PIR52168', 'score': 0.23}]
chr13 GH13I113078 113078539 113079413 0.51 [{'connected_gene': 'F7', 'score': 17.29}, {'connected_gene': 'F10', 'score': 10.89}, {'connected_gene': 'F10-AS1', 'score': 10.86}, {'connected_gene': 'KARSP2', 'score': 10.86}, {'connected_gene': 'PROZ', 'score': 10.7}, {'connected_gene': 'PIR52168', 'score': 0.77}, {'connected_gene': 'GC13M113086', 'score': 0.44}, {'connected_gene': 'GC13M113087', 'score': 0.44}, {'connected_gene': 'MCF2L', 'score': 0.09}, {'connected_gene': 'GC13M113076', 'score': 0.04}]
chr13 GH13I113304 113304585 113305955 0.46 [{'connected_gene': 'GRTP1-AS1', 'score': 12.16}, {'connected_gene': 'GRTP1', 'score': 12.13}, {'connected_gene': 'PROZ', 'score': 10.07}, {'connected_gene': 'DCUN1D2-AS', 'score': 9.81}, {'connected_gene': 'DCUN1D2', 'score': 9.8}, {'connected_gene': 'LAMP1', 'score': 0.44}, {'connected_gene': 'GC13P113323', 'score': 0.37}, {'connected_gene': 'PIR60275', 'score': 0.37}, {'connected_gene': 'GC13M113076', 'score': 0.08}]
chr13 GH13I112970 112970577 112970838 0.92 [{'connected_gene': 'MCF2L-AS1', 'score': 550.77}, {'connected_gene': 'MCF2L', 'score': 45.56}, {'connected_gene': 'PROZ', 'score': 9.65}, {'connected_gene': 'ENSG00000269356', 'score': 0.28}]
chr13 GH13I113029 113029607 113029756 0.67 [{'connected_gene': 'MCF2L-AS1', 'score': 11.14}, {'connected_gene': 'MCF2L', 'score': 11.05}, {'connected_gene': 'F10', 'score': 10.71}, {'connected_gene': 'F10-AS1', 'score': 10.7}, {'connected_gene': 'KARSP2', 'score': 10.7}, {'connected_gene': 'PROZ', 'score': 10.11}, {'connected_gene': 'ENSG00000269376', 'score': 0.34}, {'connected_gene': 'PIR52168', 'score': 0.25}]
chr13 GH13I113086 113086768 113088512 0.31 [{'connected_gene': 'GC13M113086', 'score': 550.77}, {'connected_gene': 'GC13M113087', 'score': 550.77}, {'connected_gene': 'MCF2L', 'score': 25.36}, {'connected_gene': 'PROZ', 'score': 11.0}, {'connected_gene': 'MCF2L-AS1', 'score': 10.69}, {'connected_gene': 'GC13P113090', 'score': 0.77}, {'connected_gene': 'GC13P113091', 'score': 0.77}, {'connected_gene': 'GC13M113076', 'score': 0.04}]
chr13 GH13I113072 113072700 113076224 0.31 [{'connected_gene': 'PIR52168', 'score': 550.77}, {'connected_gene': 'MCF2L', 'score': 18.09}, {'connected_gene': 'F7', 'score': 12.46}, {'connected_gene': 'F10', 'score': 11.65}, {'connected_gene': 'F10-AS1', 'score': 11.63}, {'connected_gene': 'KARSP2', 'score': 11.63}, {'connected_gene': 'PROZ', 'score': 10.69}, {'connected_gene': 'MCF2L-AS1', 'score': 10.37}, {'connected_gene': 'ENSG00000269376', 'score': 0.21}]

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