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_001278559 [[6676952, 6677078], [6677476, 6677640], [6678672, 6678772], [6681455, 6681593], [6682012, 6682395], [6682594, 6682704], [6683452, 6683579], [6684110, 6684224], [6691933, 6697910]] [[6682040, 6682395], [6682594, 6682704], [6683452, 6683579], [6684110, 6684224], [6691933, 6694242]]
Promoter
Chrom Start End Description
chr7 6676930 6676939 CAGE_peak_3_at_ZNF316_5end
chr7 6676943 6676984 CAGE_peak_1_at_ZNF316_5end
chr7 6676986 6677005 CAGE_peak_2_at_ZNF316_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I006270 6270668 6274193 2.13 [{'connected_gene': 'CYTH3', 'score': 550.77}, {'connected_gene': 'GC07P006271', 'score': 550.77}, {'connected_gene': 'ZNF12', 'score': 24.0}, {'connected_gene': 'C7orf26', 'score': 12.0}, {'connected_gene': 'TNRC18', 'score': 11.56}, {'connected_gene': 'ZNF316', 'score': 11.2}, {'connected_gene': 'USP42', 'score': 10.89}, {'connected_gene': 'FAM220A', 'score': 6.71}]
chr7 GH07I006317 6317298 6318769 0.99 [{'connected_gene': 'CYTH3', 'score': 19.2}, {'connected_gene': 'ZNF316', 'score': 17.32}, {'connected_gene': 'ZNF12', 'score': 17.27}, {'connected_gene': 'C7orf26', 'score': 15.25}, {'connected_gene': 'FAM220A', 'score': 12.92}, {'connected_gene': 'USP42', 'score': 12.44}, {'connected_gene': 'EIF2AK1', 'score': 11.8}, {'connected_gene': 'RNU6-218P', 'score': 11.79}, {'connected_gene': 'ANKRD61', 'score': 9.93}, {'connected_gene': 'GC07P006327', 'score': 0.44}, {'connected_gene': 'GC07M006297', 'score': 0.34}]
chr7 GH07I005687 5687202 5702250 1.65 [{'connected_gene': 'USP42', 'score': 22.7}, {'connected_gene': 'RNF216P1', 'score': 19.36}, {'connected_gene': 'C7orf26', 'score': 14.82}, {'connected_gene': 'ACTB', 'score': 13.7}, {'connected_gene': 'ZNF316', 'score': 12.72}, {'connected_gene': 'RBAK', 'score': 12.71}, {'connected_gene': 'FBXL18', 'score': 12.41}, {'connected_gene': 'MIR589', 'score': 12.4}, {'connected_gene': 'FSCN1', 'score': 12.22}, {'connected_gene': 'ENSG00000188365', 'score': 12.2}, {'connected_gene': 'RNF216', 'score': 11.91}, {'connected_gene': 'AP5Z1', 'score': 11.1}, {'connected_gene': 'TNRC18', 'score': 10.77}, {'connected_gene': 'ENSG00000241269', 'score': 10.18}, {'connected_gene': 'WIPI2', 'score': 5.51}, {'connected_gene': 'CCZ1', 'score': 2.17}, {'connected_gene': 'RNF216-IT1', 'score': 0.39}, {'connected_gene': 'MIR6874', 'score': 0.37}]
chr7 GH07I006103 6103541 6107328 2.34 [{'connected_gene': 'USP42', 'score': 560.77}, {'connected_gene': 'GC07M006104', 'score': 550.77}, {'connected_gene': 'EIF2AK1', 'score': 19.48}, {'connected_gene': 'ZNF12', 'score': 19.22}, {'connected_gene': 'C7orf26', 'score': 12.97}, {'connected_gene': 'ZNF316', 'score': 12.77}, {'connected_gene': 'RNU6-218P', 'score': 11.88}, {'connected_gene': 'TNRC18', 'score': 10.52}, {'connected_gene': 'PMS2', 'score': 5.62}, {'connected_gene': 'CCZ1', 'score': 5.13}, {'connected_gene': 'RSPH10B', 'score': 4.71}, {'connected_gene': 'GC07P006161', 'score': 0.22}]
chr7 GH07I006640 6640282 6640779 0.85 [{'connected_gene': 'C7orf26', 'score': 12.14}, {'connected_gene': 'ENSG00000232581', 'score': 12.14}, {'connected_gene': 'ZDHHC4', 'score': 12.12}, {'connected_gene': 'ENSG00000198580', 'score': 11.96}, {'connected_gene': 'PMS2', 'score': 8.88}, {'connected_gene': 'ZNF316', 'score': 0.77}, {'connected_gene': 'PIR55693', 'score': 0.39}, {'connected_gene': 'GC07P006652', 'score': 0.39}]
chr7 GH07I006642 6642661 6643039 0.47 [{'connected_gene': 'C7orf26', 'score': 13.32}, {'connected_gene': 'ENSG00000198580', 'score': 12.27}, {'connected_gene': 'ENSG00000232581', 'score': 11.93}, {'connected_gene': 'ZDHHC4', 'score': 11.9}, {'connected_gene': 'PMS2CL', 'score': 4.69}, {'connected_gene': 'ZNF316', 'score': 0.44}, {'connected_gene': 'GC07P006652', 'score': 0.44}, {'connected_gene': 'PIR55693', 'score': 0.44}]
chr7 GH07I006372 6372827 6379129 2.29 [{'connected_gene': 'RAC1', 'score': 559.65}, {'connected_gene': 'DAGLB', 'score': 38.47}, {'connected_gene': 'ZNF12', 'score': 35.82}, {'connected_gene': 'USP42', 'score': 13.4}, {'connected_gene': 'ZNF316', 'score': 11.89}, {'connected_gene': 'C7orf26', 'score': 10.93}, {'connected_gene': 'CYTH3', 'score': 10.64}, {'connected_gene': 'PMS2', 'score': 9.86}, {'connected_gene': 'ZDHHC4', 'score': 5.89}, {'connected_gene': 'CCZ1', 'score': 5.42}, {'connected_gene': 'PIR50924', 'score': 0.37}]
chr7 GH07I006634 6634402 6636000 0.63 [{'connected_gene': 'ZDHHC4', 'score': 17.73}, {'connected_gene': 'C7orf26', 'score': 12.25}, {'connected_gene': 'ENSG00000232581', 'score': 12.25}, {'connected_gene': 'ENSG00000198580', 'score': 11.74}, {'connected_gene': 'PMS2', 'score': 8.9}, {'connected_gene': 'PMS2CL', 'score': 7.84}, {'connected_gene': 'ZNF316', 'score': 0.77}, {'connected_gene': 'ZNF853', 'score': 0.37}]
chr7 GH07I006629 6629825 6631059 0.69 [{'connected_gene': 'ZDHHC4', 'score': 17.9}, {'connected_gene': 'C7orf26', 'score': 12.26}, {'connected_gene': 'ENSG00000232581', 'score': 12.26}, {'connected_gene': 'ENSG00000198580', 'score': 11.92}, {'connected_gene': 'PMS2', 'score': 9.08}, {'connected_gene': 'ZNF316', 'score': 0.44}, {'connected_gene': 'ZNF853', 'score': 0.39}]
chr7 GH07I006621 6621339 6621999 0.85 [{'connected_gene': 'ZDHHC4', 'score': 8.23}, {'connected_gene': 'ZNF853', 'score': 0.44}, {'connected_gene': 'ZNF316', 'score': 0.37}]
chr7 GH07I005780 5780400 5782259 2.04 [{'connected_gene': 'RNF216', 'score': 578.57}, {'connected_gene': 'C7orf26', 'score': 41.23}, {'connected_gene': 'ZNF316', 'score': 35.2}, {'connected_gene': 'TNRC18', 'score': 30.99}, {'connected_gene': 'ZNF12', 'score': 27.6}, {'connected_gene': 'USP42', 'score': 26.1}, {'connected_gene': 'RNF216P1', 'score': 22.0}, {'connected_gene': 'ANKRD61', 'score': 14.56}, {'connected_gene': 'KDELR2', 'score': 9.79}, {'connected_gene': 'PIR40049', 'score': 0.31}]
chr7 GH07I006007 6007475 6013777 2.1 [{'connected_gene': 'PMS2', 'score': 570.33}, {'connected_gene': 'AIMP2', 'score': 550.77}, {'connected_gene': 'USP42', 'score': 34.14}, {'connected_gene': 'ANKRD61', 'score': 32.83}, {'connected_gene': 'C7orf26', 'score': 27.14}, {'connected_gene': 'EIF2AK1', 'score': 21.84}, {'connected_gene': 'ZNF316', 'score': 19.65}, {'connected_gene': 'RNF216', 'score': 18.95}, {'connected_gene': 'ZNF12', 'score': 12.51}, {'connected_gene': 'PMS2CL', 'score': 11.45}, {'connected_gene': 'TNRC18', 'score': 11.18}, {'connected_gene': 'CCZ1B', 'score': 9.67}, {'connected_gene': 'CCZ1', 'score': 6.93}, {'connected_gene': 'RSPH10B', 'score': 6.25}, {'connected_gene': 'ZDHHC4', 'score': 4.65}, {'connected_gene': 'SNORA80D', 'score': 0.44}]
chr7 GH07I006446 6446607 6450961 2.31 [{'connected_gene': 'DAGLB', 'score': 604.35}, {'connected_gene': 'ZNF316', 'score': 42.44}, {'connected_gene': 'C7orf26', 'score': 36.22}, {'connected_gene': 'ZNF12', 'score': 32.35}, {'connected_gene': 'USP42', 'score': 21.39}, {'connected_gene': 'ANKRD61', 'score': 17.98}, {'connected_gene': 'ENSG00000198580', 'score': 15.33}, {'connected_gene': 'ENSG00000228010', 'score': 14.38}, {'connected_gene': 'KDELR2', 'score': 12.54}, {'connected_gene': 'PMS2', 'score': 9.85}, {'connected_gene': 'RAC1', 'score': 8.89}, {'connected_gene': 'ZDHHC4', 'score': 5.12}, {'connected_gene': 'CCZ1B', 'score': 4.46}, {'connected_gene': 'GC07M006445', 'score': 0.77}]
chr7 GH07I006481 6481453 6485858 2 [{'connected_gene': 'KDELR2', 'score': 568.25}, {'connected_gene': 'DAGLB', 'score': 550.77}, {'connected_gene': 'ZNF316', 'score': 19.72}, {'connected_gene': 'C7orf26', 'score': 19.09}, {'connected_gene': 'USP42', 'score': 17.12}, {'connected_gene': 'ANKRD61', 'score': 14.54}, {'connected_gene': 'ZNF12', 'score': 12.56}, {'connected_gene': 'RNF216', 'score': 9.84}, {'connected_gene': 'CCZ1B', 'score': 9.7}, {'connected_gene': 'GRID2IP', 'score': 6.79}, {'connected_gene': 'GC07M006445', 'score': 0.28}]
chr7 GH07I006014 6014845 6017941 1.12 [{'connected_gene': 'SNORA80D', 'score': 550.77}, {'connected_gene': 'EIF2AK1', 'score': 25.21}, {'connected_gene': 'ZNF12', 'score': 23.98}, {'connected_gene': 'RBAK', 'score': 18.7}, {'connected_gene': 'PMS2', 'score': 18.34}, {'connected_gene': 'C7orf26', 'score': 11.97}, {'connected_gene': 'TNRC18', 'score': 11.56}, {'connected_gene': 'ZNF316', 'score': 11.17}, {'connected_gene': 'USP42', 'score': 11.02}, {'connected_gene': 'PMS2CL', 'score': 10.67}, {'connected_gene': 'ENSG00000198580', 'score': 9.7}, {'connected_gene': 'CCZ1', 'score': 6.73}, {'connected_gene': 'RSPH10B', 'score': 5.72}, {'connected_gene': 'ZDHHC4', 'score': 4.65}, {'connected_gene': 'AIMP2', 'score': 0.44}]
chr7 GH07I006636 6636394 6639167 2.25 [{'connected_gene': 'ZNF316', 'score': 550.77}, {'connected_gene': 'C7orf26', 'score': 14.58}, {'connected_gene': 'ENSG00000232581', 'score': 12.25}, {'connected_gene': 'ZDHHC4', 'score': 12.21}, {'connected_gene': 'ENSG00000198580', 'score': 11.95}, {'connected_gene': 'PMS2CL', 'score': 10.42}, {'connected_gene': 'PMS2', 'score': 5.62}, {'connected_gene': 'ZNF12', 'score': 5.5}, {'connected_gene': 'DAGLB', 'score': 1.71}, {'connected_gene': 'GC07P006652', 'score': 0.39}, {'connected_gene': 'PIR55693', 'score': 0.39}]
chr7 GH07I006623 6623649 6624736 0.82 [{'connected_gene': 'ZNF316', 'score': 12.22}, {'connected_gene': 'C7orf26', 'score': 11.15}, {'connected_gene': 'ZDHHC4', 'score': 8.78}, {'connected_gene': 'CCZ1B', 'score': 5.04}, {'connected_gene': 'ZNF853', 'score': 0.44}]
chr7 GH07I006989 6989687 6992969 0.93 [{'connected_gene': 'ZNF316', 'score': 15.32}, {'connected_gene': 'C7orf26', 'score': 14.07}, {'connected_gene': 'ZDHHC4', 'score': 4.59}, {'connected_gene': 'PIR57863', 'score': 0.44}, {'connected_gene': 'MIR3683', 'score': 0.18}]
chr7 GH07I007562 7562806 7570984 2.76 [{'connected_gene': 'ENSG00000272894', 'score': 573.54}, {'connected_gene': 'MIOS', 'score': 560.51}, {'connected_gene': 'LOC101927391', 'score': 550.77}, {'connected_gene': 'ZNF12', 'score': 30.11}, {'connected_gene': 'ZNF316', 'score': 25.53}, {'connected_gene': 'C7orf26', 'score': 24.77}, {'connected_gene': 'COL28A1', 'score': 20.48}, {'connected_gene': 'RPA3', 'score': 13.85}, {'connected_gene': 'LOC100421597', 'score': 12.0}, {'connected_gene': 'CCZ1B', 'score': 10.48}, {'connected_gene': 'ENSG00000198580', 'score': 9.69}, {'connected_gene': 'ENSG00000272732', 'score': 7.31}]