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
ENST00000233615 [[74685455, 74685798], [74686769, 74686872], [74686999, 74687176], [74687347, 74688018]] [[74685729, 74685798], [74686769, 74686872], [74686999, 74687176], [74687347, 74687808]]
ENST00000393972 [[74685526, 74685798], [74686123, 74686225], [74686769, 74686872], [74686999, 74687176], [74687347, 74688018]] [[74685729, 74685798], [74686123, 74686225], [74686769, 74686872], [74686999, 74687176], [74687347, 74687808]]
ENST00000474185 [[74685565, 74685798], [74685958, 74686046], [74686564, 74686689], [74686769, 74686872], [74686999, 74687032]] None
ENST00000466835 [[74685566, 74685697], [74685765, 74685798], [74686564, 74686872], [74686999, 74687176], [74687347, 74687437]] None
ENST00000464774 [[74685576, 74685798], [74686604, 74686689], [74686769, 74686872], [74686999, 74687176], [74687347, 74687357]] None
ENST00000470536 [[74685576, 74685664], [74686769, 74686872], [74686999, 74687176], [74687347, 74687744]] None
ENST00000484744 [[74685585, 74686689], [74686769, 74686872], [74686999, 74687176], [74687347, 74688010]] None
ENST00000409737 [[74685595, 74685798], [74686778, 74686872], [74686999, 74687176], [74687347, 74687983]] [[74685729, 74685798], [74686778, 74686872], [74686999, 74687176], [74687347, 74687808]]
ENST00000428943 [[74685598, 74685798], [74685958, 74686244], [74686769, 74686872], [74686999, 74687176], [74687347, 74687570]] [[74685998, 74686244], [74686769, 74686872], [74686999, 74687176], [74687347, 74687570]]
ENST00000494741 [[74685600, 74685798], [74686564, 74686679], [74686769, 74686872], [74686999, 74687176], [74687347, 74687823]] None
ENST00000473467 [[74685614, 74685798], [74686769, 74686872], [74686999, 74687559]] None
ENST00000466303 [[74685638, 74686244], [74686769, 74686872], [74686999, 74687107]] None
ENST00000492047 [[74686006, 74686225], [74686604, 74686689], [74686769, 74686874]] None
ENST00000490120 [[74686338, 74686872], [74686999, 74687176], [74687347, 74687555]] None
NM_012477 [[74685526, 74685798], [74686769, 74686872], [74686999, 74687176], [74687347, 74688018]] [[74685729, 74685798], [74686769, 74686872], [74686999, 74687176], [74687347, 74687808]]
Promoter
Chrom Start End Description
chr2 74685413 74685454 CAGE_peak_2_at_WBP1_5end
chr2 74685556 74685585 CAGE_peak_1_at_WBP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I074487 74487910 74492766 1.12 [{'connected_gene': 'LBX2', 'score': 23.21}, {'connected_gene': 'HTRA2', 'score': 11.82}, {'connected_gene': 'AUP1', 'score': 11.82}, {'connected_gene': 'DQX1', 'score': 11.79}, {'connected_gene': 'MOGS', 'score': 11.59}, {'connected_gene': 'TLX2', 'score': 11.59}, {'connected_gene': 'WBP1', 'score': 11.55}, {'connected_gene': 'DOK1', 'score': 10.9}, {'connected_gene': 'LOXL3', 'score': 10.88}, {'connected_gene': 'CCDC142', 'score': 0.44}, {'connected_gene': 'GC02P074500', 'score': 0.44}, {'connected_gene': 'TTC31', 'score': 0.44}]
chr2 GH02I074566 74566300 74569355 1.26 [{'connected_gene': 'LBX2', 'score': 13.64}, {'connected_gene': 'WBP1', 'score': 12.66}, {'connected_gene': 'HTRA2', 'score': 11.56}, {'connected_gene': 'AUP1', 'score': 11.56}, {'connected_gene': 'TLX2', 'score': 10.94}, {'connected_gene': 'PCGF1', 'score': 10.93}, {'connected_gene': 'MRPL53', 'score': 10.49}, {'connected_gene': 'MOGS', 'score': 10.48}, {'connected_gene': 'DQX1', 'score': 10.43}, {'connected_gene': 'RTKN', 'score': 10.0}, {'connected_gene': 'M1AP', 'score': 9.24}, {'connected_gene': 'SEMA4F', 'score': 9.24}, {'connected_gene': 'DOK1', 'score': 3.64}, {'connected_gene': 'LOXL3', 'score': 1.87}, {'connected_gene': 'GC02M074608', 'score': 0.28}, {'connected_gene': 'GC02M074606', 'score': 0.28}]
chr2 GH02I074505 74505565 74508849 2.09 [{'connected_gene': 'PCGF1', 'score': 560.82}, {'connected_gene': 'PIR35080', 'score': 550.77}, {'connected_gene': 'GC02M074508', 'score': 550.77}, {'connected_gene': 'LBX2', 'score': 22.61}, {'connected_gene': 'WBP1', 'score': 8.61}]
chr2 GH02I073851 73851114 73852775 0.75 [{'connected_gene': 'PCGF1', 'score': 13.27}, {'connected_gene': 'WBP1', 'score': 11.03}, {'connected_gene': 'DUSP11', 'score': 11.01}, {'connected_gene': 'INO80B', 'score': 10.8}, {'connected_gene': 'ENSG00000273245', 'score': 9.99}, {'connected_gene': 'TTC31', 'score': 9.94}, {'connected_gene': 'TPRKB', 'score': 4.69}, {'connected_gene': 'LOC105374806', 'score': 0.44}, {'connected_gene': 'LOC105374807', 'score': 0.34}, {'connected_gene': 'STAMBP', 'score': 0.34}]
chr2 GH02I074438 74438956 74443155 2.26 [{'connected_gene': 'RTKN', 'score': 550.77}, {'connected_gene': 'ENSG00000272183', 'score': 19.41}, {'connected_gene': 'SLC4A5', 'score': 14.01}, {'connected_gene': 'WBP1', 'score': 11.23}, {'connected_gene': 'ALMS1P1', 'score': 9.74}, {'connected_gene': 'GC02M074442', 'score': 0.39}, {'connected_gene': 'GC02M074444', 'score': 0.39}, {'connected_gene': 'GC02M074419', 'score': 0.37}]
chr2 GH02I074957 74957943 74959746 1.57 [{'connected_gene': 'POLE4', 'score': 550.77}, {'connected_gene': 'LINC01291', 'score': 97.71}, {'connected_gene': 'AUP1', 'score': 14.94}, {'connected_gene': 'TTC31', 'score': 14.92}, {'connected_gene': 'MOGS', 'score': 14.25}, {'connected_gene': 'CCDC142', 'score': 14.04}, {'connected_gene': 'PCGF1', 'score': 13.15}, {'connected_gene': 'MOB1A', 'score': 11.94}, {'connected_gene': 'HTRA2', 'score': 11.47}, {'connected_gene': 'WBP1', 'score': 10.9}, {'connected_gene': 'ENSG00000271452', 'score': 10.32}, {'connected_gene': 'ENSG00000270571', 'score': 9.87}, {'connected_gene': 'GC02P074961', 'score': 0.77}]
chr2 GH02I074570 74570655 74574999 1.52 [{'connected_gene': 'AUP1', 'score': 26.44}, {'connected_gene': 'MOGS', 'score': 24.76}, {'connected_gene': 'PCGF1', 'score': 24.2}, {'connected_gene': 'HTRA2', 'score': 22.96}, {'connected_gene': 'DOK1', 'score': 17.38}, {'connected_gene': 'TTC31', 'score': 15.05}, {'connected_gene': 'CCDC142', 'score': 14.17}, {'connected_gene': 'DUSP11', 'score': 13.27}, {'connected_gene': 'LBX2-AS1', 'score': 12.57}, {'connected_gene': 'MOB1A', 'score': 11.97}, {'connected_gene': 'ENSG00000273245', 'score': 11.13}, {'connected_gene': 'LBX2', 'score': 11.09}, {'connected_gene': 'TLX2', 'score': 10.93}, {'connected_gene': 'DQX1', 'score': 10.86}, {'connected_gene': 'MRPL53', 'score': 10.56}, {'connected_gene': 'WBP1', 'score': 10.54}, {'connected_gene': 'RTKN', 'score': 9.99}, {'connected_gene': 'M1AP', 'score': 9.25}, {'connected_gene': 'SEMA4F', 'score': 9.24}, {'connected_gene': 'LOXL3', 'score': 0.37}, {'connected_gene': 'GC02M074608', 'score': 0.29}, {'connected_gene': 'GC02M074606', 'score': 0.29}]
chr2 GH02I074528 74528127 74532523 2.1 [{'connected_gene': 'AUP1', 'score': 563.12}, {'connected_gene': 'HTRA2', 'score': 560.69}, {'connected_gene': 'LBX2', 'score': 31.68}, {'connected_gene': 'TTC31', 'score': 23.73}, {'connected_gene': 'CCDC142', 'score': 22.36}, {'connected_gene': 'PCGF1', 'score': 21.89}, {'connected_gene': 'DUSP11', 'score': 13.28}, {'connected_gene': 'MOB1A', 'score': 13.22}, {'connected_gene': 'MOGS', 'score': 12.88}, {'connected_gene': 'MTHFD2', 'score': 12.01}, {'connected_gene': 'ENSG00000273245', 'score': 11.67}, {'connected_gene': 'LOXL3', 'score': 11.21}, {'connected_gene': 'WBP1', 'score': 10.79}, {'connected_gene': 'DGUOK-AS1', 'score': 10.02}, {'connected_gene': 'M1AP', 'score': 9.35}, {'connected_gene': 'SEMA4F', 'score': 9.35}, {'connected_gene': 'DOK1', 'score': 0.37}]
chr2 GH02I074513 74513713 74516751 1.35 [{'connected_gene': 'TLX2', 'score': 550.77}, {'connected_gene': 'LBX2', 'score': 25.25}, {'connected_gene': 'WBP1', 'score': 20.3}, {'connected_gene': 'INO80B', 'score': 14.95}, {'connected_gene': 'PCGF1', 'score': 12.76}, {'connected_gene': 'ALMS1P1', 'score': 10.92}, {'connected_gene': 'MRPL53', 'score': 10.74}, {'connected_gene': 'CCDC142', 'score': 10.43}, {'connected_gene': 'ENSG00000159239', 'score': 9.95}, {'connected_gene': 'DQX1', 'score': 0.39}]
chr2 GH02I074831 74831542 74838282 2.48 [{'connected_gene': 'HK2', 'score': 565.12}, {'connected_gene': 'PIR31548', 'score': 550.77}, {'connected_gene': 'ENSG00000272711', 'score': 550.77}, {'connected_gene': 'GC02M074833', 'score': 550.77}, {'connected_gene': 'GC02P074837', 'score': 550.77}, {'connected_gene': 'GC02M074813', 'score': 550.77}, {'connected_gene': 'WBP1', 'score': 10.24}, {'connected_gene': 'BOLA3-AS1', 'score': 4.53}, {'connected_gene': 'GC02P074832', 'score': 0.77}]
chr2 GH02I074569 74569535 74570537 0.43 [{'connected_gene': 'HTRA2', 'score': 22.46}, {'connected_gene': 'MOB1A', 'score': 15.02}, {'connected_gene': 'DUSP11', 'score': 14.86}, {'connected_gene': 'DOK1', 'score': 11.89}, {'connected_gene': 'AUP1', 'score': 11.54}, {'connected_gene': 'TTC31', 'score': 11.51}, {'connected_gene': 'ENSG00000273245', 'score': 11.42}, {'connected_gene': 'TLX2', 'score': 10.93}, {'connected_gene': 'PCGF1', 'score': 10.92}, {'connected_gene': 'ACTG2', 'score': 10.91}, {'connected_gene': 'MRPL53', 'score': 10.49}, {'connected_gene': 'MOGS', 'score': 10.48}, {'connected_gene': 'LBX2', 'score': 10.47}, {'connected_gene': 'WBP1', 'score': 10.47}, {'connected_gene': 'DQX1', 'score': 10.43}, {'connected_gene': 'ENSG00000270571', 'score': 10.39}, {'connected_gene': 'RTKN', 'score': 10.0}, {'connected_gene': 'M1AP', 'score': 9.25}, {'connected_gene': 'SEMA4F', 'score': 9.24}, {'connected_gene': 'LOXL3', 'score': 0.39}, {'connected_gene': 'GC02M074608', 'score': 0.28}, {'connected_gene': 'GC02M074606', 'score': 0.28}]
chr2 GH02I074551 74550761 74550783 0.4 [{'connected_gene': 'HTRA2', 'score': 11.69}, {'connected_gene': 'AUP1', 'score': 11.69}, {'connected_gene': 'DQX1', 'score': 10.72}, {'connected_gene': 'MRPL53', 'score': 10.68}, {'connected_gene': 'WBP1', 'score': 10.57}, {'connected_gene': 'MOGS', 'score': 10.41}, {'connected_gene': 'TLX2', 'score': 10.38}, {'connected_gene': 'PCGF1', 'score': 10.37}, {'connected_gene': 'DOK1', 'score': 0.77}, {'connected_gene': 'LOXL3', 'score': 0.44}]
chr2 GH02I073906 73906485 73909977 0.83 [{'connected_gene': 'WBP1', 'score': 21.63}, {'connected_gene': 'PCGF1', 'score': 17.15}, {'connected_gene': 'INO80B', 'score': 16.54}, {'connected_gene': 'ALMS1', 'score': 14.05}, {'connected_gene': 'CCDC142', 'score': 13.5}, {'connected_gene': 'MRPL53', 'score': 11.37}, {'connected_gene': 'TTC31', 'score': 9.91}, {'connected_gene': 'GC02M073905', 'score': 0.77}, {'connected_gene': 'ACTG2', 'score': 0.37}]
chr2 GH02I074454 74454394 74459821 2.14 [{'connected_gene': 'WBP1', 'score': 570.83}, {'connected_gene': 'INO80B', 'score': 568.59}, {'connected_gene': 'PCGF1', 'score': 37.91}, {'connected_gene': 'TTC31', 'score': 36.87}, {'connected_gene': 'AUP1', 'score': 30.52}, {'connected_gene': 'MOGS', 'score': 27.49}, {'connected_gene': 'CCDC142', 'score': 26.62}, {'connected_gene': 'DUSP11', 'score': 25.34}, {'connected_gene': 'ENSG00000273245', 'score': 24.78}, {'connected_gene': 'LBX2', 'score': 23.12}, {'connected_gene': 'TPRKB', 'score': 12.37}, {'connected_gene': 'MOB1A', 'score': 10.09}, {'connected_gene': 'DGUOK-AS1', 'score': 9.79}, {'connected_gene': 'INO80B-WBP1', 'score': 0.77}, {'connected_gene': 'GC02M074444', 'score': 0.77}, {'connected_gene': 'GC02M074442', 'score': 0.77}]
chr2 GH02I073821 73821410 73821526 0.7 [{'connected_gene': 'WBP1', 'score': 15.06}, {'connected_gene': 'SMYD5', 'score': 11.46}, {'connected_gene': 'ENSG00000159239', 'score': 10.22}, {'connected_gene': 'ALMS1', 'score': 9.97}, {'connected_gene': 'MOB1A', 'score': 2.06}, {'connected_gene': 'MTHFD2', 'score': 1.76}, {'connected_gene': 'LOC105374807', 'score': 0.44}, {'connected_gene': 'STAMBP', 'score': 0.44}, {'connected_gene': 'C2orf78', 'score': 0.28}]
chr2 GH02I074550 74550915 74556528 2.21 [{'connected_gene': 'DOK1', 'score': 555.78}, {'connected_gene': 'LOXL3', 'score': 550.77}, {'connected_gene': 'LBX2-AS1', 'score': 12.09}, {'connected_gene': 'HTRA2', 'score': 11.69}, {'connected_gene': 'AUP1', 'score': 11.69}, {'connected_gene': 'TLX2', 'score': 11.07}, {'connected_gene': 'PCGF1', 'score': 11.06}, {'connected_gene': 'DQX1', 'score': 10.7}, {'connected_gene': 'MRPL53', 'score': 10.67}, {'connected_gene': 'WBP1', 'score': 10.57}, {'connected_gene': 'MOGS', 'score': 10.41}, {'connected_gene': 'M1AP', 'score': 5.85}, {'connected_gene': 'INO80B', 'score': 4.5}]
chr2 GH02I074539 74538545 74538784 0.37 [{'connected_gene': 'LBX2-AS1', 'score': 20.54}, {'connected_gene': 'LBX2', 'score': 12.85}, {'connected_gene': 'PCGF1', 'score': 11.18}, {'connected_gene': 'DOK1', 'score': 3.14}, {'connected_gene': 'LOXL3', 'score': 2.44}, {'connected_gene': 'WBP1', 'score': 2.03}, {'connected_gene': 'AUP1', 'score': 0.44}]
chr2 GH02I074471 74471188 74473710 2.1 [{'connected_gene': 'MRPL53', 'score': 550.77}, {'connected_gene': 'LBX2', 'score': 22.48}, {'connected_gene': 'MTHFD2', 'score': 12.01}, {'connected_gene': 'WBP1', 'score': 11.07}, {'connected_gene': 'INO80B', 'score': 10.56}, {'connected_gene': 'DGUOK-AS1', 'score': 9.8}, {'connected_gene': 'MOGS', 'score': 0.44}, {'connected_gene': 'CCDC142', 'score': 0.39}]
chr2 GH02I074119 74119581 74121143 1.59 [{'connected_gene': 'FNBP1P1', 'score': 604.51}, {'connected_gene': 'LOC107985899', 'score': 43.13}, {'connected_gene': 'PCGF1', 'score': 36.3}, {'connected_gene': 'CCDC142', 'score': 35.48}, {'connected_gene': 'TTC31', 'score': 31.4}, {'connected_gene': 'DUSP11', 'score': 28.42}, {'connected_gene': 'ENSG00000273245', 'score': 26.53}, {'connected_gene': 'AUP1', 'score': 26.39}, {'connected_gene': 'MOGS', 'score': 24.32}, {'connected_gene': 'WBP1', 'score': 20.49}, {'connected_gene': 'MRPL53', 'score': 19.04}, {'connected_gene': 'INO80B', 'score': 18.41}, {'connected_gene': 'MTHFD2', 'score': 12.14}, {'connected_gene': 'HTRA2', 'score': 10.88}, {'connected_gene': 'MOB1A', 'score': 10.25}, {'connected_gene': 'ALMS1P1', 'score': 9.76}, {'connected_gene': 'ENSG00000279181', 'score': 0.13}]
chr2 GH02I074462 74462801 74463662 0.49 [{'connected_gene': 'PIR61769', 'score': 550.77}, {'connected_gene': 'LBX2', 'score': 22.76}, {'connected_gene': 'WBP1', 'score': 0.77}, {'connected_gene': 'MOGS', 'score': 0.77}]
chr2 GH02I074196 74196814 74200680 2.11 [{'connected_gene': 'ENSG00000279070', 'score': 550.77}, {'connected_gene': 'MTHFD2', 'score': 550.77}, {'connected_gene': 'PCGF1', 'score': 40.46}, {'connected_gene': 'DUSP11', 'score': 38.6}, {'connected_gene': 'INO80B', 'score': 38.56}, {'connected_gene': 'ENSG00000273245', 'score': 37.39}, {'connected_gene': 'WBP1', 'score': 28.29}, {'connected_gene': 'AUP1', 'score': 23.63}, {'connected_gene': 'TTC31', 'score': 22.87}, {'connected_gene': 'MOB1A', 'score': 22.46}, {'connected_gene': 'HTRA2', 'score': 22.1}, {'connected_gene': 'SEMA4F', 'score': 22.05}, {'connected_gene': 'ALMS1', 'score': 21.77}, {'connected_gene': 'CCT7', 'score': 20.88}, {'connected_gene': 'BOLA3-AS1', 'score': 20.64}, {'connected_gene': 'WDR54', 'score': 19.46}, {'connected_gene': 'ALMS1P1', 'score': 18.66}, {'connected_gene': 'DGUOK-AS1', 'score': 18.29}, {'connected_gene': 'SLC4A5', 'score': 17.54}, {'connected_gene': 'MOGS', 'score': 14.27}, {'connected_gene': 'CCDC142', 'score': 14.06}, {'connected_gene': 'SMYD5', 'score': 14.03}, {'connected_gene': 'ENSG00000159239', 'score': 12.06}, {'connected_gene': 'DCTN1', 'score': 11.85}, {'connected_gene': 'BOLA3', 'score': 10.84}, {'connected_gene': 'ENSG00000270571', 'score': 10.82}, {'connected_gene': 'TPRKB', 'score': 10.77}, {'connected_gene': 'LOC107985899', 'score': 10.09}, {'connected_gene': 'GC02P074217', 'score': 0.37}]
chr2 GH02I074714 74714614 74716200 1.17 [{'connected_gene': 'GC02P074717', 'score': 550.77}, {'connected_gene': 'LOC102724497', 'score': 550.77}, {'connected_gene': 'INO80B', 'score': 15.4}, {'connected_gene': 'WBP1', 'score': 15.1}, {'connected_gene': 'GCFC2', 'score': 12.96}, {'connected_gene': 'DUSP11', 'score': 12.52}, {'connected_gene': 'HK2', 'score': 11.81}, {'connected_gene': 'SEMA4F', 'score': 10.97}, {'connected_gene': 'M1AP', 'score': 10.96}, {'connected_gene': 'PCGF1', 'score': 10.92}, {'connected_gene': 'ENSG00000270571', 'score': 10.84}, {'connected_gene': 'TPRKB', 'score': 10.75}, {'connected_gene': 'ENSG00000271452', 'score': 10.38}, {'connected_gene': 'ENSG00000159239', 'score': 10.25}, {'connected_gene': 'ENSG00000273245', 'score': 10.01}, {'connected_gene': 'LBX2-AS1', 'score': 4.24}, {'connected_gene': 'RPS28P5', 'score': 0.28}]

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