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
ENST00000532614 [[448267, 448419], [460186, 460288], [479084, 479152], [486938, 487053]] None
ENST00000308020 [[450279, 450637], [460186, 460288], [473894, 473977], [479084, 479152], [486938, 487073], [487419, 487470], [488198, 488312], [488528, 488647], [489399, 489514], [489587, 489733], [489882, 490068], [490419, 491387]] [[450455, 450637], [460186, 460288], [473894, 473977], [479084, 479152], [486938, 487073], [487419, 487470], [488198, 488312], [488528, 488647], [489399, 489514], [489587, 489733], [489882, 490068], [490419, 490582]]
ENST00000531520 [[450295, 450637], [451384, 451493], [460186, 460288], [473894, 473977], [479084, 479152], [486938, 487073], [487419, 487470]] [[450455, 450637], [451384, 451448]]
ENST00000528617 [[450326, 450637], [460186, 460288], [460760, 460879]] None
ENST00000525727 [[450346, 450637], [460186, 460288], [473894, 473977], [479084, 479445]] None
ENST00000525059 [[450353, 450637], [451384, 451493], [460186, 461051]] None
ENST00000526558 [[450419, 450637], [458860, 459111]] None
ENST00000527479 [[450450, 450637], [451351, 451493], [460186, 460288], [473894, 473977], [479084, 479090]] [[450455, 450637], [451351, 451352]]
ENST00000526878 [[458673, 460288], [473894, 473977], [479084, 479152], [486938, 487073], [487419, 487470], [488198, 488312], [488528, 488647], [489399, 489514], [489587, 489733], [489882, 490068], [490419, 490642], [491120, 491393]] None
ENST00000530087 [[473919, 473977], [479084, 479152], [480124, 480594]] None
ENST00000527325 [[487238, 487470], [488198, 488312], [488528, 488647], [489399, 489514], [489587, 489730]] None
ENST00000531411 [[489349, 489514], [489587, 489733], [489882, 490068], [490419, 490546]] None
ENST00000530029 [[489790, 490068], [490419, 490720]] None
NM_001329548 [[448267, 448419], [460186, 460288], [473894, 473977], [479084, 479152], [486938, 487073], [487419, 487470], [488198, 488312], [488528, 488647], [489399, 489514], [489587, 489733], [489882, 490068], [490419, 491400]] [[448417, 448419], [460186, 460288], [473894, 473977], [479084, 479152], [486938, 487073], [487419, 487470], [488198, 488312], [488528, 488647], [489399, 489514], [489587, 489733], [489882, 490068], [490419, 490582]]
NM_001329545 [[450279, 450637], [460186, 460288], [479084, 479152], [486938, 487073], [487419, 487470], [488198, 488312], [488528, 488647], [489399, 489514], [489587, 489733], [489882, 490068], [490419, 491400]] [[488204, 488312], [488528, 488647], [489399, 489514], [489587, 489733], [489882, 490068], [490419, 490582]]
NR_138046 [[450279, 450637], [460186, 460288], [473894, 473977], [479084, 479152], [486938, 487073], [487419, 487470], [488198, 488312], [488528, 488647], [489399, 489514], [489587, 489733], [489882, 490068], [490419, 490642], [491120, 491400]] None
NM_030783 [[450279, 450637], [460186, 460288], [473894, 473977], [479084, 479152], [486938, 487073], [487419, 487470], [488198, 488312], [488528, 488647], [489399, 489514], [489587, 489733], [489882, 490068], [490419, 491400]] [[450455, 450637], [460186, 460288], [473894, 473977], [479084, 479152], [486938, 487073], [487419, 487470], [488198, 488312], [488528, 488647], [489399, 489514], [489587, 489733], [489882, 490068], [490419, 490582]]
NM_001329544 [[450279, 450637], [460186, 460288], [473894, 473977], [479084, 479152], [486890, 487073], [487419, 487470], [488198, 488312], [488528, 488647], [489399, 489514], [489587, 489733], [489882, 490068], [490419, 491400]] [[450455, 450637], [460186, 460288], [473894, 473977], [479084, 479152], [486890, 487073], [487419, 487470], [488198, 488312], [488528, 488647], [489399, 489514], [489587, 489733], [489882, 490068], [490419, 490582]]
Promoter
Chrom Start End Description
chr11 450255 450334 CAGE_peak_1_at_PTDSS2_5end
chr11 450343 450365 CAGE_peak_3_at_PTDSS2_5end
chr11 450369 450461 CAGE_peak_2_at_PTDSS2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I000443 443626 451865 2.51 [{'connected_gene': 'PTDSS2', 'score': 563.3}, {'connected_gene': 'RNH1', 'score': 20.23}, {'connected_gene': 'LRRC56', 'score': 19.2}, {'connected_gene': 'TSPAN4', 'score': 19.17}, {'connected_gene': 'SNORA52', 'score': 16.77}, {'connected_gene': 'PHRF1', 'score': 14.42}, {'connected_gene': 'ENSG00000255237', 'score': 12.72}, {'connected_gene': 'ANO9', 'score': 12.14}, {'connected_gene': 'HRAS', 'score': 11.34}, {'connected_gene': 'BET1L', 'score': 10.84}, {'connected_gene': 'RIC8A', 'score': 10.84}, {'connected_gene': 'GC11M000452', 'score': 0.44}]
chr11 GH11I000441 441452 442770 1.84 [{'connected_gene': 'ANO9', 'score': 550.77}, {'connected_gene': 'RN7SL838P', 'score': 550.77}, {'connected_gene': 'RNH1', 'score': 13.88}, {'connected_gene': 'HRAS', 'score': 12.47}, {'connected_gene': 'PTDSS2', 'score': 0.44}]
chr11 GH11I000468 468188 470722 1.59 [{'connected_gene': 'HRAS', 'score': 11.17}, {'connected_gene': 'CEND1', 'score': 2.36}, {'connected_gene': 'B4GALNT4', 'score': 2.12}, {'connected_gene': 'ENSG00000255237', 'score': 0.44}, {'connected_gene': 'PTDSS2', 'score': 0.34}, {'connected_gene': 'GC11P000498', 'score': 0.31}]
chr11 GH11I000494 494349 495943 0.63 [{'connected_gene': 'RNH1', 'score': 18.33}, {'connected_gene': 'PTDSS2', 'score': 13.06}, {'connected_gene': 'LRRC56', 'score': 6.5}, {'connected_gene': 'GC11P000498', 'score': 0.77}, {'connected_gene': 'ENSG00000255237', 'score': 0.29}]
chr11 GH11I000475 475643 478289 0.43 [{'connected_gene': 'RNH1', 'score': 17.77}, {'connected_gene': 'PTDSS2', 'score': 12.8}, {'connected_gene': 'ENSG00000255237', 'score': 0.39}, {'connected_gene': 'GC11P000498', 'score': 0.34}]
chr11 GH11I000459 459397 462726 1.32 [{'connected_gene': 'RNH1', 'score': 17.72}, {'connected_gene': 'PTDSS2', 'score': 12.68}, {'connected_gene': 'GC11M000452', 'score': 0.77}, {'connected_gene': 'ENSG00000255237', 'score': 0.77}]
chr11 GH11I000501 501960 508501 2.24 [{'connected_gene': 'RNH1', 'score': 568.91}, {'connected_gene': 'GC11M000506', 'score': 550.77}, {'connected_gene': 'GC11P000507', 'score': 550.77}, {'connected_gene': 'GC11M000505', 'score': 550.77}, {'connected_gene': 'LRRC56', 'score': 22.04}, {'connected_gene': 'PTDSS2', 'score': 17.54}, {'connected_gene': 'GATD1', 'score': 10.76}, {'connected_gene': 'DRD4', 'score': 8.58}, {'connected_gene': 'TMEM80', 'score': 5.36}, {'connected_gene': 'GC11P000497', '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 GH11I000559 559142 566688 2.21 [{'connected_gene': 'LMNTD2', 'score': 557.47}, {'connected_gene': 'RASSF7', 'score': 550.77}, {'connected_gene': 'GC11M000563', 'score': 550.77}, {'connected_gene': 'PHRF1', 'score': 15.36}, {'connected_gene': 'HRAS', 'score': 12.51}, {'connected_gene': 'TMEM80', 'score': 11.56}, {'connected_gene': 'PKP3', 'score': 5.27}, {'connected_gene': 'RNH1', 'score': 4.92}, {'connected_gene': 'PTDSS2', 'score': 4.43}, {'connected_gene': 'GC11M000576', 'score': 0.44}, {'connected_gene': 'GC11M000578', 'score': 0.44}, {'connected_gene': 'LOC692247', 'score': 0.44}, {'connected_gene': 'MIR210HG', 'score': 0.44}]
chr11 GH11I000636 636354 641884 1.36 [{'connected_gene': 'DRD4', 'score': 550.77}, {'connected_gene': 'GC11P000641', 'score': 550.77}, {'connected_gene': 'GC11P000637', 'score': 550.77}, {'connected_gene': 'GC11P000643', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 31.09}, {'connected_gene': 'PTDSS2', 'score': 8.68}, {'connected_gene': 'CDHR5', 'score': 7.31}, {'connected_gene': 'HRAS', 'score': 6.36}, {'connected_gene': 'LMNTD2', 'score': 5.48}, {'connected_gene': 'OR4F2P', 'score': 4.94}, {'connected_gene': 'LOC692247', 'score': 4.91}]
chr11 GH11I000471 471031 474524 0.43 [{'connected_gene': 'LRRC56', 'score': 20.63}, {'connected_gene': 'RNH1', 'score': 17.72}, {'connected_gene': 'PTDSS2', 'score': 12.88}, {'connected_gene': 'SIGIRR', 'score': 9.35}, {'connected_gene': 'ENSG00000255237', 'score': 0.44}, {'connected_gene': 'GC11P000498', 'score': 0.34}]
chr11 GH11I000488 488101 492016 0.46 [{'connected_gene': 'LRRC56', 'score': 23.67}, {'connected_gene': 'RNH1', 'score': 19.69}, {'connected_gene': 'PTDSS2', 'score': 12.4}, {'connected_gene': 'GC11P000498', 'score': 0.44}, {'connected_gene': 'ENSG00000255237', 'score': 0.31}]
chr11 GH11I000492 492327 493615 0.49 [{'connected_gene': 'LRRC56', 'score': 19.54}, {'connected_gene': 'RNH1', 'score': 18.25}, {'connected_gene': 'TMEM80', 'score': 8.48}, {'connected_gene': 'PTDSS2', 'score': 6.8}, {'connected_gene': 'GC11P000498', 'score': 0.77}, {'connected_gene': 'ENSG00000255237', 'score': 0.31}]
chr11 GH11I000478 478472 480362 0.2 [{'connected_gene': 'LRRC56', 'score': 19.64}, {'connected_gene': 'TMEM80', 'score': 8.25}, {'connected_gene': 'ENSG00000255237', 'score': 0.37}, {'connected_gene': 'GC11P000498', 'score': 0.37}, {'connected_gene': 'PTDSS2', 'score': 0.29}]
chr11 GH11I000391 391978 397450 2.17 [{'connected_gene': 'PKP3', 'score': 560.96}, {'connected_gene': 'GC11P000395', 'score': 550.77}, {'connected_gene': 'SIGIRR', 'score': 21.99}, {'connected_gene': 'ENSG00000255142', 'score': 13.4}, {'connected_gene': 'PIDD1', 'score': 12.83}, {'connected_gene': 'DRD4', 'score': 12.68}, {'connected_gene': 'TMEM80', 'score': 11.1}, {'connected_gene': 'GATD1', 'score': 10.79}, {'connected_gene': 'ENSG00000255158', 'score': 10.23}, {'connected_gene': 'PTDSS2', 'score': 9.76}, {'connected_gene': 'GC11M000414', 'score': 0.39}]
chr11 GH11I000514 514302 516144 0.58 [{'connected_gene': 'LOC105376507', 'score': 550.77}, {'connected_gene': 'RNH1', 'score': 18.43}, {'connected_gene': 'HRAS', 'score': 12.9}, {'connected_gene': 'LOC692247', 'score': 12.82}, {'connected_gene': 'RASSF7', 'score': 12.82}, {'connected_gene': 'LMNTD2', 'score': 12.81}, {'connected_gene': 'PTDSS2', 'score': 12.12}, {'connected_gene': 'SLC25A22', 'score': 11.01}, {'connected_gene': 'CEND1', 'score': 11.01}, {'connected_gene': 'PIDD1', 'score': 11.01}, {'connected_gene': 'RPLP2', 'score': 11.01}, {'connected_gene': 'ENSG00000255158', 'score': 10.57}, {'connected_gene': 'DRD4', 'score': 8.86}, {'connected_gene': 'LRRC56', 'score': 0.77}, {'connected_gene': 'GC11P000507', 'score': 0.44}]
chr11 GH11I000408 408620 409885 0.7 [{'connected_gene': 'GC11M000416', 'score': 550.77}, {'connected_gene': 'GC11M000411', 'score': 550.77}, {'connected_gene': 'GC11M000405', 'score': 550.77}, {'connected_gene': 'GC11M000428', 'score': 550.77}, {'connected_gene': 'GC11M000410', 'score': 550.77}, {'connected_gene': 'GC11M000413', 'score': 550.77}, {'connected_gene': 'GC11M000426', 'score': 550.77}, {'connected_gene': 'SIGIRR', 'score': 36.75}, {'connected_gene': 'PTDSS2', 'score': 8.59}, {'connected_gene': 'GC11P000407', 'score': 0.77}]
chr11 GH11I000465 465058 466525 0.54 [{'connected_gene': 'ENSG00000255237', 'score': 550.77}, {'connected_gene': 'RNH1', 'score': 17.74}, {'connected_gene': 'LRRC56', 'score': 17.41}, {'connected_gene': 'PTDSS2', 'score': 10.72}, {'connected_gene': 'DRD4', 'score': 8.02}, {'connected_gene': 'GC11P000498', 'score': 0.29}]
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 GH11I000456 456154 457624 0.94 [{'connected_gene': 'GC11M000452', 'score': 550.77}, {'connected_gene': 'LRRC56', 'score': 6.21}, {'connected_gene': 'ENSG00000255237', 'score': 0.44}, {'connected_gene': 'PTDSS2', 'score': 0.44}]

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