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
ENST00000319006 [[747328, 747578], [755878, 756002], [758949, 759057], [760121, 760253], [763343, 763519], [763746, 763944], [764287, 764433], [764812, 765024]] [[747481, 747578], [755878, 756002], [758949, 759057], [760121, 760253], [763343, 763519], [763746, 763944], [764287, 764433], [764812, 764845]]
ENST00000528070 [[747414, 747578], [752263, 752473], [755878, 756002], [759008, 759057], [760121, 760253], [763343, 763520]] [[747481, 747578], [752263, 752319]]
ENST00000532685 [[747416, 747578], [755878, 756284]] None
ENST00000528097 [[747427, 747578], [755878, 756002], [758949, 759057], [760121, 760253], [763343, 763519], [763746, 763940], [764287, 764433], [764812, 765012]] [[747481, 747578], [755878, 756002], [758949, 759057], [760121, 760253], [763343, 763519], [763746, 763940], [764287, 764413]]
ENST00000530440 [[747453, 747578], [755878, 756002], [759008, 759057], [760121, 760253], [763343, 763519], [763746, 763850]] [[747481, 747578], [755878, 756002], [759008, 759057], [760121, 760133]]
ENST00000530119 [[747463, 747578], [755878, 756002], [758949, 759057], [760121, 760965]] None
ENST00000533796 [[755743, 756002], [758949, 759057], [760121, 760257]] None
ENST00000530666 [[763981, 764433], [764812, 764947]] None
ENST00000532202 [[764369, 764446], [764812, 765005]] None
NM_006755 [[747431, 747578], [755878, 756002], [758949, 759057], [760121, 760253], [763343, 763519], [763746, 763944], [764287, 764433], [764812, 765024]] [[747481, 747578], [755878, 756002], [758949, 759057], [760121, 760253], [763343, 763519], [763746, 763944], [764287, 764433], [764812, 764845]]
Promoter
Chrom Start End Description
chr11 747411 747481 CAGE_peak_1_at_TALDO1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I000745 745459 750559 2.45 [{'connected_gene': 'TALDO1', 'score': 564.46}, {'connected_gene': 'ENSG00000255108', 'score': 55.59}, {'connected_gene': 'RPLP2', 'score': 22.07}, {'connected_gene': 'IRF7', 'score': 12.85}, {'connected_gene': 'LOC171391', 'score': 10.35}, {'connected_gene': 'DEAF1', 'score': 3.27}, {'connected_gene': 'TMEM80', 'score': 2.83}, {'connected_gene': 'IFITM2', 'score': 1.3}, {'connected_gene': 'GC11P000742', 'score': 0.44}, {'connected_gene': 'LOC105376509', 'score': 0.39}, {'connected_gene': 'GATD1', 'score': 0.31}]
chr11 GH11I000765 765893 767548 0.62 [{'connected_gene': 'RPLP2', 'score': 21.2}, {'connected_gene': 'LOC171391', 'score': 11.05}, {'connected_gene': 'EPS8L2', 'score': 6.1}, {'connected_gene': 'GATD1', 'score': 0.39}, {'connected_gene': 'TALDO1', 'score': 0.37}]
chr11 GH11I000741 741538 741804 0.61 [{'connected_gene': 'IRF7', 'score': 9.0}, {'connected_gene': 'LOC171391', 'score': 7.55}, {'connected_gene': 'LOC105376509', 'score': 0.77}, {'connected_gene': 'GC11P000742', 'score': 0.77}, {'connected_gene': 'GC11P000743', 'score': 0.77}, {'connected_gene': 'TALDO1', 'score': 0.44}]
chr11 GH11I000657 657246 658592 0.72 [{'connected_gene': 'TMEM80', 'score': 56.58}, {'connected_gene': 'EPS8L2', 'score': 22.27}, {'connected_gene': 'DEAF1', 'score': 12.94}, {'connected_gene': 'CDHR5', 'score': 11.95}, {'connected_gene': 'IRF7', 'score': 11.92}, {'connected_gene': 'TALDO1', 'score': 11.84}, {'connected_gene': 'CEND1', 'score': 11.3}, {'connected_gene': 'SLC25A22', 'score': 11.29}, {'connected_gene': 'PIDD1', 'score': 11.29}, {'connected_gene': 'RPLP2', 'score': 11.29}, {'connected_gene': 'LOC171391', 'score': 11.18}, {'connected_gene': 'GATD1', 'score': 11.18}, {'connected_gene': 'ENSG00000255142', 'score': 11.17}, {'connected_gene': 'PTDSS2', 'score': 5.07}, {'connected_gene': 'HRAS', 'score': 4.98}, {'connected_gene': 'GC11P000654', 'score': 0.77}, {'connected_gene': 'GC11P000663', 'score': 0.44}]
chr11 GH11I000775 775406 779262 2.15 [{'connected_gene': 'LOC171391', 'score': 550.77}, {'connected_gene': 'GATD1', 'score': 550.77}, {'connected_gene': 'ENSG00000255108', 'score': 48.87}, {'connected_gene': 'TALDO1', 'score': 6.36}, {'connected_gene': 'TMEM80', 'score': 6.28}, {'connected_gene': 'MIR210', 'score': 4.86}]
chr11 GH11I000766 765361 765570 0.94 [{'connected_gene': 'LOC171391', 'score': 11.11}, {'connected_gene': 'GATD1', 'score': 0.39}, {'connected_gene': 'TALDO1', 'score': 0.37}]
chr11 GH11I000752 752309 752823 0.43 [{'connected_gene': 'LOC171391', 'score': 10.21}, {'connected_gene': 'TMEM80', 'score': 6.25}, {'connected_gene': 'TALDO1', 'score': 0.44}, {'connected_gene': 'GATD1', 'score': 0.34}]
chr11 GH11I000303 303723 321507 2.73 [{'connected_gene': 'IFITM2', 'score': 593.63}, {'connected_gene': 'IFITM3', 'score': 582.18}, {'connected_gene': 'ENSG00000254910', 'score': 579.72}, {'connected_gene': 'IFITM1', 'score': 556.92}, {'connected_gene': 'PGGHG', 'score': 29.04}, {'connected_gene': 'TMEM80', 'score': 28.07}, {'connected_gene': 'PHRF1', 'score': 23.75}, {'connected_gene': 'ENSG00000270030', 'score': 21.6}, {'connected_gene': 'BET1L', 'score': 21.48}, {'connected_gene': 'RIC8A', 'score': 21.25}, {'connected_gene': 'SNORA52', 'score': 21.25}, {'connected_gene': 'ENSG00000251661', 'score': 19.39}, {'connected_gene': 'PIDD1', 'score': 14.45}, {'connected_gene': 'ENSG00000255026', 'score': 13.99}, {'connected_gene': 'NLRP6', 'score': 13.97}, {'connected_gene': 'SIGIRR', 'score': 11.74}, {'connected_gene': 'ENSG00000255237', 'score': 11.12}, {'connected_gene': 'ENSG00000254559', 'score': 10.78}, {'connected_gene': 'ODF3', 'score': 10.76}, {'connected_gene': 'SCGB1C1', 'score': 10.76}, {'connected_gene': 'TSPAN4', 'score': 10.19}, {'connected_gene': 'RPLP2', 'score': 10.08}, {'connected_gene': 'ENSG00000270972', 'score': 9.87}, {'connected_gene': 'LOC105376505', 'score': 8.29}, {'connected_gene': 'TALDO1', 'score': 3.05}, {'connected_gene': 'LRRC56', 'score': 1.98}, {'connected_gene': 'DEAF1', 'score': 1.75}, {'connected_gene': 'ANO9', 'score': 1.44}, {'connected_gene': 'SIRT3', 'score': 1.32}, {'connected_gene': 'GC11M000282', 'score': 0.44}, {'connected_gene': 'MRPS24P1', 'score': 0.44}, {'connected_gene': 'GC11P000259', 'score': 0.23}]
chr11 GH11I000770 770399 774541 0.52 [{'connected_gene': 'ENSG00000255108', 'score': 54.21}, {'connected_gene': 'RPLP2', 'score': 22.47}, {'connected_gene': 'LOC171391', 'score': 9.96}, {'connected_gene': 'TMEM80', 'score': 5.36}, {'connected_gene': 'GATD1', 'score': 0.44}, {'connected_gene': 'TALDO1', 'score': 0.31}]
chr11 GH11I000761 761595 764709 1 [{'connected_gene': 'ENSG00000255108', 'score': 56.74}, {'connected_gene': 'TMEM80', 'score': 16.58}, {'connected_gene': 'PIDD1', 'score': 15.84}, {'connected_gene': 'ENSG00000255142', 'score': 14.65}, {'connected_gene': 'LOC171391', 'score': 11.15}, {'connected_gene': 'PHRF1', 'score': 10.1}, {'connected_gene': 'ENSG00000255158', 'score': 9.79}, {'connected_gene': 'TALDO1', 'score': 6.45}, {'connected_gene': 'GATD1', 'score': 0.39}]
chr11 GH11I000654 654861 655777 1.04 [{'connected_gene': 'GC11P000654', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 35.1}, {'connected_gene': 'CDHR5', 'score': 16.91}, {'connected_gene': 'EPS8L2', 'score': 12.64}, {'connected_gene': 'DEAF1', 'score': 12.6}, {'connected_gene': 'IRF7', 'score': 12.55}, {'connected_gene': 'TALDO1', 'score': 11.88}, {'connected_gene': 'ENSG00000255142', 'score': 11.65}, {'connected_gene': 'LOC171391', 'score': 11.65}, {'connected_gene': 'GATD1', 'score': 11.65}, {'connected_gene': 'CEND1', 'score': 11.1}, {'connected_gene': 'SLC25A22', 'score': 11.1}, {'connected_gene': 'PIDD1', 'score': 11.09}, {'connected_gene': 'RPLP2', 'score': 11.09}, {'connected_gene': 'PTDSS2', 'score': 5.18}, {'connected_gene': 'CHID1', 'score': 5.08}, {'connected_gene': 'SIRT3', 'score': 2.35}, {'connected_gene': 'NLRP6', 'score': 1.29}, {'connected_gene': 'GC11P000663', 'score': 0.44}]
chr11 GH11I000743 743452 745339 0.92 [{'connected_gene': 'ENSG00000255108', 'score': 41.41}, {'connected_gene': 'LOC171391', 'score': 8.07}, {'connected_gene': 'TMEM80', 'score': 6.27}, {'connected_gene': 'EPS8L2', 'score': 5.76}, {'connected_gene': 'TALDO1', 'score': 0.77}, {'connected_gene': 'GC11P000742', 'score': 0.77}, {'connected_gene': 'GC11P000743', 'score': 0.77}, {'connected_gene': 'LOC105376509', 'score': 0.44}]
chr11 GH11I000266 266649 273455 1.74 [{'connected_gene': 'PIR53591', 'score': 550.77}, {'connected_gene': 'IFITM2', 'score': 34.33}, {'connected_gene': 'RIC8A', 'score': 32.71}, {'connected_gene': 'PSMD13', 'score': 24.67}, {'connected_gene': 'BET1L', 'score': 22.78}, {'connected_gene': 'SIRT3', 'score': 20.88}, {'connected_gene': 'PGGHG', 'score': 17.12}, {'connected_gene': 'TMEM80', 'score': 14.82}, {'connected_gene': 'ENSG00000254559', 'score': 11.41}, {'connected_gene': 'ODF3', 'score': 11.4}, {'connected_gene': 'SCGB1C1', 'score': 11.39}, {'connected_gene': 'SNORA52', 'score': 10.82}, {'connected_gene': 'NLRP6', 'score': 10.46}, {'connected_gene': 'RPLP2', 'score': 10.07}, {'connected_gene': 'PHRF1', 'score': 9.73}, {'connected_gene': 'TALDO1', 'score': 7.27}, {'connected_gene': 'IRF7', 'score': 5.5}, {'connected_gene': 'ANO9', 'score': 5.17}, {'connected_gene': 'IFITM1', 'score': 4.86}, {'connected_gene': 'SIGIRR', 'score': 4.31}, {'connected_gene': 'DEAF1', 'score': 2.3}, {'connected_gene': 'GC11P000259', 'score': 0.39}]
chr11 GH11I000737 737087 738919 1.15 [{'connected_gene': 'GC11P000742', 'score': 550.77}, {'connected_gene': 'LOC105376509', 'score': 550.77}, {'connected_gene': 'GC11P000743', 'score': 550.77}, {'connected_gene': 'LOC171391', 'score': 12.29}, {'connected_gene': 'EPS8L2', 'score': 7.59}, {'connected_gene': 'TALDO1', 'score': 7.16}, {'connected_gene': 'TMEM80', 'score': 6.68}, {'connected_gene': 'ENSG00000255108', 'score': 6.08}, {'connected_gene': 'SIGIRR', 'score': 1.99}, {'connected_gene': 'PKP3', 'score': 1.33}]