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
ENST00000294671 [[89597433, 89598086], [89598940, 89599134], [89607228, 89607331], [89613249, 89613462], [89614974, 89615255], [89616012, 89616258], [89617950, 89618147], [89618350, 89618460], [89630413, 89630541], [89637428, 89637637], [89641603, 89641723]] [[89597831, 89598086], [89598940, 89599134], [89607228, 89607331], [89613249, 89613462], [89614974, 89615255], [89616012, 89616258], [89617950, 89618147], [89618350, 89618460], [89630413, 89630541], [89637428, 89637618]]
NM_207398 [[89597433, 89598086], [89598940, 89599134], [89607228, 89607331], [89613249, 89613462], [89614974, 89615255], [89616012, 89616258], [89617950, 89618147], [89618350, 89618460], [89630413, 89630541], [89637428, 89637637], [89641603, 89641723]] [[89597831, 89598086], [89598940, 89599134], [89607228, 89607331], [89613249, 89613462], [89614974, 89615255], [89616012, 89616258], [89617950, 89618147], [89618350, 89618460], [89630413, 89630541], [89637428, 89637618]]
Promoter
Chrom Start End Description
chr1 89641680 89641701 CAGE_peak_1_at_GBP7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I088990 88990547 88994566 2.49 [{'connected_gene': 'KYAT3', 'score': 550.77}, {'connected_gene': 'RBMXL1', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 86.11}, {'connected_gene': 'GBP5', 'score': 10.91}, {'connected_gene': 'GBP6', 'score': 10.8}, {'connected_gene': 'GBP7', 'score': 5.12}, {'connected_gene': 'PTGES3P1', 'score': 4.75}, {'connected_gene': 'GC01M088952', 'score': 0.28}]
chr1 GH01I089113 89113557 89116007 0.31 [{'connected_gene': 'GBP3', 'score': 20.06}, {'connected_gene': 'GBP7', 'score': 10.72}, {'connected_gene': 'GBP5', 'score': 10.12}, {'connected_gene': 'PTGES3P1', 'score': 0.44}, {'connected_gene': 'LOC105378842', 'score': 0.39}, {'connected_gene': 'GBP2', 'score': 0.28}]
chr1 GH01I089259 89259170 89263271 0.83 [{'connected_gene': 'GBP3', 'score': 12.41}, {'connected_gene': 'GBP7', 'score': 5.4}, {'connected_gene': 'GBP5', 'score': 0.39}, {'connected_gene': 'LOC100421401', 'score': 0.34}]
chr1 GH01I089081 89081001 89081400 0.72 [{'connected_gene': 'GBP3', 'score': 22.99}, {'connected_gene': 'GBP5', 'score': 10.99}, {'connected_gene': 'GBP7', 'score': 10.39}, {'connected_gene': 'RBMXL1', 'score': 4.52}, {'connected_gene': 'GBP1', 'score': 0.37}, {'connected_gene': 'GC01M089104', 'score': 0.34}, {'connected_gene': 'LOC105378841', 'score': 0.25}]
chr1 GH01I089051 89051339 89052801 0.66 [{'connected_gene': 'GBP3', 'score': 49.53}, {'connected_gene': 'GBP5', 'score': 10.1}, {'connected_gene': 'GBP7', 'score': 9.51}, {'connected_gene': 'RBMXL1', 'score': 4.64}, {'connected_gene': 'GC01M089045', 'score': 0.44}, {'connected_gene': 'GBP1', 'score': 0.39}, {'connected_gene': 'LOC105378841', 'score': 0.37}]
chr1 GH01I089048 89048351 89048718 0.2 [{'connected_gene': 'GBP3', 'score': 11.52}, {'connected_gene': 'GBP5', 'score': 10.1}, {'connected_gene': 'GBP7', 'score': 9.51}, {'connected_gene': 'GC01M089045', 'score': 0.77}, {'connected_gene': 'LOC105378841', 'score': 0.39}, {'connected_gene': 'GBP1', 'score': 0.37}]
chr1 GH01I089175 89175993 89176052 0.82 [{'connected_gene': 'GBP7', 'score': 550.77}, {'connected_gene': 'GBP2', 'score': 0.31}, {'connected_gene': 'LOC105378842', 'score': 0.25}]
chr1 GH01I089103 89103031 89110672 0.56 [{'connected_gene': 'PTGES3P1', 'score': 556.21}, {'connected_gene': 'GBP7', 'score': 35.74}, {'connected_gene': 'GBP3', 'score': 23.45}, {'connected_gene': 'GBP6', 'score': 10.7}, {'connected_gene': 'LOC100421401', 'score': 10.26}, {'connected_gene': 'GBP5', 'score': 10.21}, {'connected_gene': 'GC01M089104', 'score': 0.77}, {'connected_gene': 'LOC105378842', 'score': 0.34}, {'connected_gene': 'GBP2', 'score': 0.26}]
chr1 GH01I089124 89124263 89128187 2.05 [{'connected_gene': 'GBP2', 'score': 550.34}, {'connected_gene': 'GBP7', 'score': 37.36}, {'connected_gene': 'GBP3', 'score': 20.85}, {'connected_gene': 'GBP4', 'score': 11.87}, {'connected_gene': 'GBP5', 'score': 11.2}, {'connected_gene': 'PTGES3P1', 'score': 5.14}, {'connected_gene': 'LOC105378842', 'score': 0.77}]
chr1 GH01I089063 89063609 89066309 1.68 [{'connected_gene': 'GBP1', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 24.38}, {'connected_gene': 'GBP5', 'score': 10.88}, {'connected_gene': 'PKN2', 'score': 9.99}, {'connected_gene': 'GBP7', 'score': 9.59}, {'connected_gene': 'PTGES3P1', 'score': 4.41}, {'connected_gene': 'GC01M089045', 'score': 0.37}, {'connected_gene': 'LOC105378841', 'score': 0.29}]
chr1 GH01I089069 89069665 89070800 1.04 [{'connected_gene': 'GBP1', 'score': 47.24}, {'connected_gene': 'GBP5', 'score': 29.84}, {'connected_gene': 'GBP7', 'score': 26.06}, {'connected_gene': 'GBP4', 'score': 24.99}, {'connected_gene': 'GBP2', 'score': 11.45}, {'connected_gene': 'GBP6', 'score': 10.26}, {'connected_gene': 'GBP3', 'score': 9.61}, {'connected_gene': 'GTF2B', 'score': 6.02}, {'connected_gene': 'GC01M089104', 'score': 0.29}, {'connected_gene': 'LOC105378841', 'score': 0.28}]
chr1 GH01I089277 89277765 89280569 1.09 [{'connected_gene': 'GBP1', 'score': 35.51}, {'connected_gene': 'GBP5', 'score': 32.1}, {'connected_gene': 'GBP4', 'score': 29.22}, {'connected_gene': 'GBP2', 'score': 12.04}, {'connected_gene': 'LOC100421401', 'score': 10.69}, {'connected_gene': 'GBP7', 'score': 9.72}, {'connected_gene': 'GTF2B', 'score': 5.74}, {'connected_gene': 'LRRC8C', 'score': 2.83}, {'connected_gene': 'KYAT3', 'score': 1.73}, {'connected_gene': 'GBP3', 'score': 1.7}, {'connected_gene': 'GC01P089283', 'score': 0.77}]
chr1 GH01I089265 89265603 89266856 0.49 [{'connected_gene': 'GBP5', 'score': 6.37}, {'connected_gene': 'GBP7', 'score': 5.35}, {'connected_gene': 'LOC100421401', 'score': 0.31}]
chr1 GH01I089123 89123001 89123200 0.4 [{'connected_gene': 'GBP5', 'score': 11.24}, {'connected_gene': 'GBP2', 'score': 11.18}, {'connected_gene': 'GBP4', 'score': 10.97}, {'connected_gene': 'GBP7', 'score': 10.36}, {'connected_gene': 'KYAT3', 'score': 4.48}, {'connected_gene': 'LOC105378842', 'score': 0.44}, {'connected_gene': 'PTGES3P1', 'score': 0.37}]
chr1 GH01I089421 89421907 89422279 0.29 [{'connected_gene': 'GBP5', 'score': 18.36}, {'connected_gene': 'GBP4', 'score': 18.19}, {'connected_gene': 'GBP2', 'score': 17.08}, {'connected_gene': 'GBP1', 'score': 15.62}, {'connected_gene': 'GBP7', 'score': 9.38}, {'connected_gene': 'LRRC8C', 'score': 8.92}, {'connected_gene': 'LRRC8B', 'score': 5.62}, {'connected_gene': 'GBP3', 'score': 3.8}, {'connected_gene': 'PIR33822', 'score': 0.44}, {'connected_gene': 'GBP1P1', 'score': 0.39}]
chr1 GH01I089293 89293338 89295648 0.52 [{'connected_gene': 'GBP5', 'score': 11.49}, {'connected_gene': 'LOC100421401', 'score': 9.93}, {'connected_gene': 'GBP7', 'score': 9.49}, {'connected_gene': 'GC01P089291', 'score': 0.77}, {'connected_gene': 'ENSG00000233235', 'score': 0.29}]
chr1 GH01I089197 89197556 89201698 2.06 [{'connected_gene': 'GBP4', 'score': 550.77}, {'connected_gene': 'ENSG00000284734', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 22.67}, {'connected_gene': 'GBP7', 'score': 14.98}, {'connected_gene': 'ENSG00000284637', 'score': 0.77}]
chr1 GH01I089276 89276798 89276947 0.58 [{'connected_gene': 'GBP4', 'score': 10.76}, {'connected_gene': 'GBP7', 'score': 9.72}, {'connected_gene': 'GBP5', 'score': 7.5}, {'connected_gene': 'GC01P089283', 'score': 0.44}, {'connected_gene': 'LOC100421401', 'score': 0.28}]
chr1 GH01I089128 89128396 89130169 1.32 [{'connected_gene': 'LOC105378842', 'score': 550.77}, {'connected_gene': 'GBP1', 'score': 45.8}, {'connected_gene': 'GBP5', 'score': 33.01}, {'connected_gene': 'GBP4', 'score': 28.25}, {'connected_gene': 'GBP2', 'score': 16.77}, {'connected_gene': 'GBP7', 'score': 10.97}, {'connected_gene': 'GTF2B', 'score': 8.76}, {'connected_gene': 'GBP3', 'score': 7.12}, {'connected_gene': 'PTGES3P1', 'score': 4.75}]
chr1 GH01I089130 89130201 89130600 0.51 [{'connected_gene': 'LOC105378842', 'score': 550.77}, {'connected_gene': 'GBP4', 'score': 11.51}, {'connected_gene': 'GBP7', 'score': 10.71}, {'connected_gene': 'GBP3', 'score': 5.01}, {'connected_gene': 'GBP2', 'score': 0.34}]
chr1 GH01I089043 89043758 89046836 1.09 [{'connected_gene': 'GC01M089045', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 55.37}, {'connected_gene': 'GBP5', 'score': 11.25}, {'connected_gene': 'GBP7', 'score': 10.75}, {'connected_gene': 'RBMXL1', 'score': 4.66}, {'connected_gene': 'LOC105378841', 'score': 0.39}]
chr1 GH01I089001 89001251 89001492 0.26 [{'connected_gene': 'GC01P089002', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 24.37}, {'connected_gene': 'GBP5', 'score': 10.39}, {'connected_gene': 'GBP7', 'score': 9.74}, {'connected_gene': 'GTF2B', 'score': 1.37}, {'connected_gene': 'GBP2', 'score': 1.26}, {'connected_gene': 'KYAT3', 'score': 0.44}, {'connected_gene': 'RBMXL1', 'score': 0.44}]
chr1 GH01I089047 89047113 89047419 0.72 [{'connected_gene': 'GC01M089045', 'score': 550.77}, {'connected_gene': 'GBP5', 'score': 10.1}, {'connected_gene': 'GBP7', 'score': 9.51}, {'connected_gene': 'LOC105378841', 'score': 0.39}, {'connected_gene': 'GBP1', 'score': 0.37}]