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
ENST00000400259 [[22379119, 22379235], [22404921, 22405076], [22408214, 22408287], [22412931, 22413041], [22413161, 22413359], [22417920, 22419416]] [[22404971, 22405076], [22408214, 22408287], [22412931, 22413041], [22413161, 22413359], [22417920, 22418010]]
ENST00000344548 [[22379160, 22379235], [22400586, 22400712], [22404921, 22405076], [22408214, 22408287], [22412931, 22413041], [22413161, 22413359], [22417920, 22419437]] [[22404971, 22405076], [22408214, 22408287], [22412931, 22413041], [22413161, 22413359], [22417920, 22418010]]
ENST00000315554 [[22379181, 22379235], [22404921, 22405076], [22408214, 22408287], [22412931, 22413041], [22413161, 22413359], [22416435, 22417297]] [[22404971, 22405076], [22408214, 22408287], [22412931, 22413041], [22413161, 22413359], [22416435, 22416525]]
ENST00000498236 [[22379199, 22379235], [22404921, 22405076], [22405198, 22405374], [22408214, 22408287], [22412931, 22413041], [22413161, 22413359], [22416435, 22416503]] None
ENST00000421089 [[22379203, 22379235], [22404921, 22405076], [22405198, 22405374], [22408214, 22408287], [22412931, 22413041], [22413161, 22413359], [22417920, 22418282]] [[22405021, 22405076], [22405198, 22405374], [22408214, 22408287], [22412931, 22413041], [22413161, 22413359], [22417920, 22418010]]
ENST00000411827 [[22379789, 22379926], [22404921, 22405076], [22408214, 22408287], [22412931, 22413041], [22413161, 22413283]] [[22404971, 22405076], [22408214, 22408287], [22412931, 22413041], [22413161, 22413283]]
NM_044472 [[22379119, 22379235], [22404921, 22405076], [22408214, 22408287], [22412931, 22413041], [22413161, 22413359], [22416435, 22417296]] [[22404971, 22405076], [22408214, 22408287], [22412931, 22413041], [22413161, 22413359], [22416435, 22416525]]
NM_001791 [[22379119, 22379235], [22404921, 22405076], [22408214, 22408287], [22412931, 22413041], [22413161, 22413359], [22417920, 22419436]] [[22404971, 22405076], [22408214, 22408287], [22412931, 22413041], [22413161, 22413359], [22417920, 22418010]]
NM_001039802 [[22379119, 22379235], [22400586, 22400712], [22404921, 22405076], [22408214, 22408287], [22412931, 22413041], [22413161, 22413359], [22417920, 22419436]] [[22404971, 22405076], [22408214, 22408287], [22412931, 22413041], [22413161, 22413359], [22417920, 22418010]]
Promoter
Chrom Start End Description
chr1 22379158 22379177 CAGE_peak_2_at_CDC42_5end
chr1 22379179 22379215 CAGE_peak_1_at_CDC42_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I022006 22006736 22007826 0.43 [{'connected_gene': 'CDC42', 'score': 6.68}, {'connected_gene': 'CELA3B', 'score': 5.06}, {'connected_gene': 'RN7SL186P', 'score': 0.77}, {'connected_gene': 'GC01M022003', 'score': 0.77}, {'connected_gene': 'CELA3A', 'score': 0.44}]
chr1 GH01I021968 21968017 21969450 0.31 [{'connected_gene': 'CDC42', 'score': 7.7}, {'connected_gene': 'CELA3B', 'score': 0.44}, {'connected_gene': 'ENSG00000283234', 'score': 0.39}]
chr1 GH01I021969 21969682 21971858 0.46 [{'connected_gene': 'CDC42', 'score': 6.39}, {'connected_gene': 'RNU6-1022P', 'score': 6.01}, {'connected_gene': 'ENSG00000236936', 'score': 5.33}, {'connected_gene': 'CELA3B', 'score': 0.44}, {'connected_gene': 'ENSG00000283234', 'score': 0.39}]
chr1 GH01I022051 22051743 22054871 2.3 [{'connected_gene': 'CDC42', 'score': 556.91}, {'connected_gene': 'LOC105376841', 'score': 550.77}, {'connected_gene': 'LINC00339', 'score': 45.28}, {'connected_gene': 'ZBTB40', 'score': 26.92}, {'connected_gene': 'KDM1A', 'score': 26.25}, {'connected_gene': 'CDC42-IT1', 'score': 25.91}, {'connected_gene': 'NBPF3', 'score': 24.1}, {'connected_gene': 'USP48', 'score': 20.91}, {'connected_gene': 'NBPF2P', 'score': 19.83}, {'connected_gene': 'ENSG00000271428', 'score': 11.5}, {'connected_gene': 'LINC01635', 'score': 4.74}]
chr1 GH01I021996 21996357 22001610 1.12 [{'connected_gene': 'CDC42', 'score': 11.56}, {'connected_gene': 'LINC01635', 'score': 9.24}, {'connected_gene': 'CELA3B', 'score': 6.57}, {'connected_gene': 'CELA3A', 'score': 5.7}, {'connected_gene': 'GC01P021996', 'score': 0.44}]
chr1 GH01I021995 21995348 21996140 0.31 [{'connected_gene': 'CDC42', 'score': 11.68}, {'connected_gene': 'CELA3A', 'score': 5.17}, {'connected_gene': 'GC01P021996', 'score': 0.77}, {'connected_gene': 'CELA3B', 'score': 0.37}]
chr1 GH01I022056 22056601 22057379 0.4 [{'connected_gene': 'CDC42', 'score': 6.86}, {'connected_gene': 'CDC42-IT1', 'score': 0.77}, {'connected_gene': 'LOC105376841', 'score': 0.77}]
chr1 GH01I022105 22105728 22105877 0.82 [{'connected_gene': 'CDC42', 'score': 5.96}, {'connected_gene': 'ENSG00000271840', 'score': 0.44}, {'connected_gene': 'GC01M022117', 'score': 0.39}]
chr1 GH01I021779 21779443 21785625 2.33 [{'connected_gene': 'USP48', 'score': 585.96}, {'connected_gene': 'CDC42-IT1', 'score': 40.19}, {'connected_gene': 'ZBTB40', 'score': 36.84}, {'connected_gene': 'ENSG00000271428', 'score': 20.03}, {'connected_gene': 'HP1BP3', 'score': 17.9}, {'connected_gene': 'NBPF3', 'score': 11.36}, {'connected_gene': 'CDC42', 'score': 11.07}, {'connected_gene': 'EIF4G3', 'score': 10.6}, {'connected_gene': 'ZBTB40-IT1', 'score': 9.69}, {'connected_gene': 'RAP1GAP', 'score': 4.7}, {'connected_gene': 'ENSG00000231978', 'score': 0.39}]
chr1 GH01I022107 22107791 22109164 0.69 [{'connected_gene': 'WNT4', 'score': 11.39}, {'connected_gene': 'CDC42', 'score': 5.95}, {'connected_gene': 'ENSG00000271840', 'score': 0.44}, {'connected_gene': 'GC01M022117', 'score': 0.39}]
chr1 GH01I022112 22112442 22113420 0.31 [{'connected_gene': 'WNT4', 'score': 11.83}, {'connected_gene': 'LINC00339', 'score': 8.12}, {'connected_gene': 'CDC42', 'score': 4.74}, {'connected_gene': 'GC01M022117', 'score': 0.44}, {'connected_gene': 'ENSG00000271840', 'score': 0.39}]
chr1 GH01I022077 22077299 22078757 0.52 [{'connected_gene': 'WNT4', 'score': 10.31}, {'connected_gene': 'LINC01635', 'score': 5.19}, {'connected_gene': 'GC01P022081', 'score': 0.77}, {'connected_gene': 'ENSG00000271428', 'score': 0.44}, {'connected_gene': 'CDC42', 'score': 0.31}]
chr1 GH01I021963 21963565 21964717 1.3 [{'connected_gene': 'HSPG2', 'score': 12.98}, {'connected_gene': 'USP48', 'score': 11.38}, {'connected_gene': 'RAP1GAP', 'score': 10.88}, {'connected_gene': 'CDC42', 'score': 6.9}, {'connected_gene': 'ENSG00000283234', 'score': 0.44}, {'connected_gene': 'CELA3B', 'score': 0.39}]
chr1 GH01I021961 21961231 21962803 0.46 [{'connected_gene': 'HSPG2', 'score': 13.01}, {'connected_gene': 'USP48', 'score': 11.39}, {'connected_gene': 'RAP1GAP', 'score': 10.88}, {'connected_gene': 'CDC42', 'score': 7.06}, {'connected_gene': 'RNU6-1022P', 'score': 6.25}, {'connected_gene': 'ENSG00000283234', 'score': 0.44}, {'connected_gene': 'CELA3B', 'score': 0.39}]
chr1 GH01I022015 22015277 22015590 0.43 [{'connected_gene': 'HSPG2', 'score': 11.32}, {'connected_gene': 'WNT4', 'score': 10.34}, {'connected_gene': 'CDC42', 'score': 6.64}, {'connected_gene': 'RNU6-776P', 'score': 0.77}, {'connected_gene': 'LINC00339', 'score': 0.44}]
chr1 GH01I022059 22059066 22069627 0.57 [{'connected_gene': 'LINC00339', 'score': 37.84}, {'connected_gene': 'CDC42', 'score': 6.48}, {'connected_gene': 'LINC01635', 'score': 5.86}, {'connected_gene': 'ENSG00000271428', 'score': 0.77}, {'connected_gene': 'CDC42-IT1', 'score': 0.44}]
chr1 GH01I022071 22071013 22073385 0.52 [{'connected_gene': 'LINC00339', 'score': 31.32}, {'connected_gene': 'ENSG00000271428', 'score': 0.77}, {'connected_gene': 'GC01P022081', 'score': 0.44}, {'connected_gene': 'CDC42', 'score': 0.37}]
chr1 GH01I022037 22037359 22044042 1.67 [{'connected_gene': 'LINC00339', 'score': 47.94}, {'connected_gene': 'ZBTB40', 'score': 13.34}, {'connected_gene': 'HSPG2', 'score': 5.76}, {'connected_gene': 'LINC01635', 'score': 5.5}, {'connected_gene': 'CDC42-IT1', 'score': 5.04}, {'connected_gene': 'USP48', 'score': 1.15}, {'connected_gene': 'GC01M022038', 'score': 0.77}, {'connected_gene': 'LOC105376841', 'score': 0.39}, {'connected_gene': 'CDC42', 'score': 0.39}]
chr1 GH01I022106 22106121 22107425 0.31 [{'connected_gene': 'LINC00339', 'score': 18.14}, {'connected_gene': 'WNT4', 'score': 11.39}, {'connected_gene': 'CDC42', 'score': 5.96}, {'connected_gene': 'ENSG00000271840', 'score': 0.44}, {'connected_gene': 'GC01M022117', 'score': 0.39}]
chr1 GH01I022121 22121309 22123091 1.04 [{'connected_gene': 'LINC00339', 'score': 34.6}, {'connected_gene': 'WNT4', 'score': 12.1}, {'connected_gene': 'CDC42', 'score': 4.73}, {'connected_gene': 'PIR60757', 'score': 0.77}, {'connected_gene': 'GC01M022117', 'score': 0.77}]
chr1 GH01I022083 22083375 22085147 0.2 [{'connected_gene': 'LINC00339', 'score': 26.41}, {'connected_gene': 'WNT4', 'score': 10.61}, {'connected_gene': 'LINC01635', 'score': 5.18}, {'connected_gene': 'GC01P022081', 'score': 0.77}, {'connected_gene': 'PIR57871', 'score': 0.44}, {'connected_gene': 'GC01P022090', 'score': 0.44}, {'connected_gene': 'CDC42', 'score': 0.29}]
chr1 GH01I022074 22074335 22077020 1.05 [{'connected_gene': 'LINC00339', 'score': 31.3}, {'connected_gene': 'WNT4', 'score': 10.31}, {'connected_gene': 'LINC01635', 'score': 5.21}, {'connected_gene': 'ENSG00000271428', 'score': 0.44}, {'connected_gene': 'GC01P022081', 'score': 0.44}, {'connected_gene': 'CDC42', 'score': 0.34}]
chr1 GH01I022047 22047876 22049421 1.59 [{'connected_gene': 'LINC00339', 'score': 32.0}, {'connected_gene': 'HSPG2', 'score': 11.66}, {'connected_gene': 'ZBTB40', 'score': 11.28}, {'connected_gene': 'USP48', 'score': 10.27}, {'connected_gene': 'LDLRAD2', 'score': 10.12}, {'connected_gene': 'KDM1A', 'score': 10.05}, {'connected_gene': 'CDC42', 'score': 1.94}, {'connected_gene': 'LOC105376841', 'score': 0.77}, {'connected_gene': 'GC01M022038', 'score': 0.39}]
chr1 GH01I022018 22018453 22020399 1.66 [{'connected_gene': 'LINC00339', 'score': 14.5}, {'connected_gene': 'HSPG2', 'score': 11.31}, {'connected_gene': 'WNT4', 'score': 10.34}, {'connected_gene': 'CDC42', 'score': 10.0}, {'connected_gene': 'ZBTB40', 'score': 8.32}, {'connected_gene': 'LINC01635', 'score': 7.47}, {'connected_gene': 'RNU6-776P', 'score': 0.44}]
chr1 GH01I022023 22023843 22027633 1.81 [{'connected_gene': 'LINC00339', 'score': 656.69}, {'connected_gene': 'LINC01635', 'score': 556.05}, {'connected_gene': 'ZBTB40', 'score': 36.85}, {'connected_gene': 'CDC42-IT1', 'score': 31.55}, {'connected_gene': 'ENSG00000271428', 'score': 20.23}, {'connected_gene': 'KDM1A', 'score': 14.07}, {'connected_gene': 'HSPG2', 'score': 11.42}, {'connected_gene': 'NBPF3', 'score': 11.34}, {'connected_gene': 'CDC42', 'score': 11.32}, {'connected_gene': 'WNT4', 'score': 10.34}, {'connected_gene': 'USP48', 'score': 10.04}, {'connected_gene': 'ZBTB40-IT1', 'score': 9.7}]
chr1 GH01I021977 21977810 21978960 0.2 [{'connected_gene': 'CELA3B', 'score': 555.99}, {'connected_gene': 'GC01M021978', 'score': 550.77}, {'connected_gene': 'LINC01635', 'score': 8.21}, {'connected_gene': 'CDC42', 'score': 6.3}, {'connected_gene': 'RNU6-1022P', 'score': 5.21}]
chr1 GH01I023018 23018444 23021601 2.13 [{'connected_gene': 'KDM1A', 'score': 564.81}, {'connected_gene': 'ZBTB40', 'score': 22.66}, {'connected_gene': 'SRSF10', 'score': 22.12}, {'connected_gene': 'CDC42-IT1', 'score': 19.68}, {'connected_gene': 'LACTBL1', 'score': 15.08}, {'connected_gene': 'ELOA', 'score': 11.83}, {'connected_gene': 'CDC42', 'score': 11.03}, {'connected_gene': 'ENSG00000271428', 'score': 10.65}, {'connected_gene': 'HTR1D', 'score': 8.93}, {'connected_gene': 'MIR3115', 'score': 0.34}, {'connected_gene': 'ENSG00000240553', 'score': 0.2}]
chr1 GH01I022044 22044527 22045777 0.97 [{'connected_gene': 'KDM1A', 'score': 12.76}, {'connected_gene': 'NBPF3', 'score': 10.51}, {'connected_gene': 'NBPF2P', 'score': 9.73}, {'connected_gene': 'LINC00339', 'score': 5.95}, {'connected_gene': 'LOC105376841', 'score': 0.44}, {'connected_gene': 'GC01M022038', 'score': 0.44}, {'connected_gene': 'CDC42', 'score': 0.44}]
chr1 GH01I022233 22233363 22243262 0.65 [{'connected_gene': 'KDM1A', 'score': 16.65}, {'connected_gene': 'WNT4', 'score': 11.55}, {'connected_gene': 'CDC42', 'score': 4.52}, {'connected_gene': 'MIR4418', 'score': 0.31}, {'connected_gene': 'LOC105376850', 'score': 0.19}]
chr1 GH01I022009 22009336 22010100 0.38 [{'connected_gene': 'RN7SL186P', 'score': 550.77}, {'connected_gene': 'RNU6-776P', 'score': 550.77}, {'connected_gene': 'GC01P022021', 'score': 550.77}, {'connected_gene': 'LINC01635', 'score': 9.04}, {'connected_gene': 'CDC42', 'score': 7.41}, {'connected_gene': 'GC01M022003', 'score': 0.44}, {'connected_gene': 'CELA3A', 'score': 0.44}]
chr1 GH01I021983 21983554 21984642 0.31 [{'connected_gene': 'LINC01635', 'score': 9.18}, {'connected_gene': 'CDC42', 'score': 6.6}, {'connected_gene': 'RNU6-1022P', 'score': 6.43}, {'connected_gene': 'CELA3B', 'score': 5.19}, {'connected_gene': 'GC01M021978', 'score': 0.77}, {'connected_gene': 'RN7SL386P', 'score': 0.77}]
chr1 GH01I021972 21972486 21975787 1.25 [{'connected_gene': 'LINC01635', 'score': 8.19}, {'connected_gene': 'RNU6-1022P', 'score': 7.72}, {'connected_gene': 'CDC42', 'score': 7.66}, {'connected_gene': 'CELA3B', 'score': 0.77}, {'connected_gene': 'ENSG00000283234', 'score': 0.37}]
chr1 GH01I022055 22055566 22056136 0.52 [{'connected_gene': 'CDC42-IT1', 'score': 0.77}, {'connected_gene': 'LOC105376841', 'score': 0.77}, {'connected_gene': 'CDC42', 'score': 0.77}]
chr1 GH01I021991 21991617 21991888 0.43 [{'connected_gene': 'GC01P021996', 'score': 550.77}, {'connected_gene': 'CDC42', 'score': 9.2}, {'connected_gene': 'RNU6-1022P', 'score': 0.77}, {'connected_gene': 'CELA3B', 'score': 0.39}]
chr1 GH01I022004 22004529 22006497 0.56 [{'connected_gene': 'GC01M022003', 'score': 550.77}, {'connected_gene': 'CDC42', 'score': 9.36}, {'connected_gene': 'LINC01635', 'score': 9.1}, {'connected_gene': 'CELA3A', 'score': 0.77}, {'connected_gene': 'RN7SL186P', 'score': 0.44}]
chr1 GH01I021993 21993681 21994993 0.2 [{'connected_gene': 'GC01P021996', 'score': 550.77}, {'connected_gene': 'CDC42', 'score': 9.98}, {'connected_gene': 'CELA3A', 'score': 4.96}, {'connected_gene': 'CELA3B', 'score': 0.37}]
chr1 GH01I022092 22092389 22093014 0.51 [{'connected_gene': 'PIR57871', 'score': 0.77}, {'connected_gene': 'GC01P022090', 'score': 0.77}, {'connected_gene': 'ENSG00000271840', 'score': 0.44}, {'connected_gene': 'CDC42', 'score': 0.26}]
chr1 GH01I022070 22070001 22070200 0.2 [{'connected_gene': 'ENSG00000271428', 'score': 550.77}, {'connected_gene': 'GC01P022081', 'score': 0.39}, {'connected_gene': 'CDC42', 'score': 0.37}]
chr1 GH01I022088 22088765 22090686 0.92 [{'connected_gene': 'PIR57871', 'score': 550.77}, {'connected_gene': 'GC01P022090', 'score': 550.77}, {'connected_gene': 'WNT4', 'score': 10.62}, {'connected_gene': 'CDC42', 'score': 6.36}, {'connected_gene': 'LINC01635', 'score': 5.17}, {'connected_gene': 'GC01P022081', 'score': 0.44}]
chr1 GH01I022079 22079873 22080870 0.2 [{'connected_gene': 'GC01P022081', 'score': 550.77}, {'connected_gene': 'WNT4', 'score': 10.31}, {'connected_gene': 'ENSG00000271428', 'score': 0.39}, {'connected_gene': 'CDC42', 'score': 0.31}]
chr1 GH01I022098 22098861 22101921 0.54 [{'connected_gene': 'ENSG00000271840', 'score': 550.77}, {'connected_gene': 'LINC00339', 'score': 27.15}, {'connected_gene': 'WNT4', 'score': 10.68}, {'connected_gene': 'CDC42', 'score': 4.77}, {'connected_gene': 'LINC01635', 'score': 4.66}, {'connected_gene': 'PIR57871', 'score': 0.39}, {'connected_gene': 'GC01P022090', 'score': 0.39}]
chr1 GH01I022117 22117958 22119571 0.86 [{'connected_gene': 'GC01M022117', 'score': 550.77}, {'connected_gene': 'LINC00339', 'score': 22.05}, {'connected_gene': 'WNT4', 'score': 12.07}, {'connected_gene': 'CDC42', 'score': 4.73}, {'connected_gene': 'ENSG00000271840', 'score': 0.37}]
chr1 GH01I021986 21986068 21987149 0.2 [{'connected_gene': 'GC01P021994', 'score': 550.77}, {'connected_gene': 'RNU6-1022P', 'score': 550.77}, {'connected_gene': 'RN7SL386P', 'score': 550.77}, {'connected_gene': 'CDC42', 'score': 9.53}, {'connected_gene': 'LINC01635', 'score': 9.19}, {'connected_gene': 'GC01M021978', 'score': 0.44}, {'connected_gene': 'CELA3B', 'score': 0.44}]
chr1 GH01I021979 21979910 21981882 0.31 [{'connected_gene': 'GC01M021978', 'score': 550.77}, {'connected_gene': 'LINC01635', 'score': 8.21}, {'connected_gene': 'CDC42', 'score': 7.49}, {'connected_gene': 'CELA3B', 'score': 5.22}, {'connected_gene': 'ZBTB40', 'score': 4.77}, {'connected_gene': 'RN7SL386P', 'score': 0.44}]
chr1 GH01I022002 22002432 22003609 0.2 [{'connected_gene': 'GC01M022003', 'score': 550.77}, {'connected_gene': 'CELA3A', 'score': 550.77}, {'connected_gene': 'LINC01635', 'score': 9.16}, {'connected_gene': 'CDC42', 'score': 9.14}]

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