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
ENST00000233616 [[74688183, 74690139], [74690316, 74690513], [74691622, 74691849], [74692022, 74692537]] [[74688401, 74690139], [74690316, 74690513], [74691622, 74691849], [74692022, 74692374]]
ENST00000452063 [[74688184, 74690139], [74690316, 74690513], [74691622, 74691849], [74692022, 74692114], [74692440, 74692537]] [[74688401, 74690139], [74690316, 74690513], [74691622, 74691849], [74692022, 74692056]]
ENST00000409065 [[74688195, 74690139], [74690506, 74690513], [74691622, 74691849], [74692022, 74692512]] [[74690095, 74690139], [74690506, 74690513], [74691622, 74691849], [74692022, 74692374]]
ENST00000462189 [[74688196, 74690139], [74690316, 74690773]] None
ENST00000448666 [[74689122, 74690139], [74690316, 74690513], [74691622, 74691849], [74692022, 74692114], [74692440, 74692523]] [[74689122, 74690139], [74690316, 74690513], [74691622, 74691849], [74692022, 74692056]]
ENST00000462443 [[74689901, 74690139], [74690316, 74690513], [74692440, 74692537]] None
ENST00000489655 [[74689920, 74689961], [74690316, 74690764]] None
ENST00000535045 [[74689999, 74690513], [74692022, 74692489]] [[74690385, 74690513], [74692022, 74692374]]
ENST00000414701 [[74690123, 74690139], [74690316, 74690513], [74691622, 74691849], [74692440, 74692520]] [[74690123, 74690139], [74690316, 74690513], [74691622, 74691844]]
ENST00000486036 [[74691543, 74691849], [74692022, 74692527]] None
NM_006302 [[74688183, 74690139], [74690316, 74690513], [74691622, 74691849], [74692022, 74692537]] [[74688401, 74690139], [74690316, 74690513], [74691622, 74691849], [74692022, 74692374]]
NM_001146158 [[74688183, 74690139], [74690316, 74690513], [74691622, 74691849], [74692022, 74692114], [74692440, 74692537]] [[74688401, 74690139], [74690316, 74690513], [74691622, 74691849], [74692022, 74692056]]
Promoter
Chrom Start End Description
chr2 74692333 74692347 CAGE_peak_5_at_MOGS_5end
chr2 74692464 74692465 CAGE_peak_4_at_MOGS_5end
chr2 74692473 74692542 CAGE_peak_1_at_MOGS_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 GH02I074077 74077769 74078277 0.85 [{'connected_gene': 'DUSP11', 'score': 16.77}, {'connected_gene': 'PCGF1', 'score': 15.82}, {'connected_gene': 'CCDC142', 'score': 15.07}, {'connected_gene': 'ENSG00000273245', 'score': 14.66}, {'connected_gene': 'TTC31', 'score': 12.8}, {'connected_gene': 'MOGS', 'score': 11.78}, {'connected_gene': 'AUP1', 'score': 11.23}, {'connected_gene': 'HTRA2', 'score': 10.88}, {'connected_gene': 'MRPL53', 'score': 10.5}, {'connected_gene': 'INO80B', 'score': 10.41}, {'connected_gene': 'DGUOK-AS1', 'score': 5.44}, {'connected_gene': 'FNBP1P1', 'score': 0.26}, {'connected_gene': 'ENSG00000279181', 'score': 0.18}, {'connected_gene': 'TET3', 'score': 0.16}]
chr2 GH02I074464 74464022 74466441 2.04 [{'connected_gene': 'MOGS', 'score': 558.9}, {'connected_gene': 'PIR61769', 'score': 550.77}, {'connected_gene': 'LBX2', 'score': 22.84}, {'connected_gene': 'PCGF1', 'score': 10.31}]
chr2 GH02I074696 74696141 74698210 0.63 [{'connected_gene': 'MOGS', 'score': 9.01}, {'connected_gene': 'LOC105374808', 'score': 0.77}, {'connected_gene': 'PIR44290', 'score': 0.34}]
chr2 GH02I075099 75099296 75101062 0.54 [{'connected_gene': 'TACR1', 'score': 10.04}, {'connected_gene': 'ENSG00000221638', 'score': 9.78}, {'connected_gene': 'MOGS', 'score': 4.87}, {'connected_gene': 'ENSG00000270571', 'score': 4.87}, {'connected_gene': 'MIR5000', 'score': 0.44}, {'connected_gene': 'PIR31932', 'score': 0.34}]
chr2 GH02I074480 74480906 74483934 2.07 [{'connected_gene': 'TTC31', 'score': 571.26}, {'connected_gene': 'CCDC142', 'score': 564.77}, {'connected_gene': 'LBX2', 'score': 23.1}, {'connected_gene': 'AUP1', 'score': 17.22}, {'connected_gene': 'MOGS', 'score': 14.69}, {'connected_gene': 'ENSG00000273245', 'score': 13.71}, {'connected_gene': 'PCGF1', 'score': 13.68}, {'connected_gene': 'DUSP11', 'score': 13.54}, {'connected_gene': 'MTHFD2', 'score': 12.01}, {'connected_gene': 'MOB1A', 'score': 10.08}, {'connected_gene': 'INO80B', 'score': 9.98}, {'connected_gene': 'MRPL53', 'score': 0.44}]
chr2 GH02I075055 75055036 75057728 1 [{'connected_gene': 'TTC31', 'score': 19.16}, {'connected_gene': 'AUP1', 'score': 15.79}, {'connected_gene': 'MOGS', 'score': 15.41}, {'connected_gene': 'PCGF1', 'score': 14.31}, {'connected_gene': 'CCDC142', 'score': 14.26}, {'connected_gene': 'MOB1A', 'score': 12.04}, {'connected_gene': 'HTRA2', 'score': 10.6}, {'connected_gene': 'ENSG00000221638', 'score': 9.5}, {'connected_gene': 'GC02M075054', 'score': 0.77}, {'connected_gene': 'GC02M075053', 'score': 0.77}, {'connected_gene': 'MIR5000', 'score': 0.29}, {'connected_gene': 'TACR1', 'score': 0.11}]
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 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 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 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 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 GH02I074146 74146560 74149278 2.02 [{'connected_gene': 'BOLA3-AS1', 'score': 567.17}, {'connected_gene': 'BOLA3', 'score': 550.77}, {'connected_gene': 'TTC31', 'score': 20.55}, {'connected_gene': 'AUP1', 'score': 17.02}, {'connected_gene': 'MOGS', 'score': 14.38}, {'connected_gene': 'CCDC142', 'score': 14.05}, {'connected_gene': 'ENSG00000273245', 'score': 13.74}, {'connected_gene': 'DUSP11', 'score': 13.57}, {'connected_gene': 'PCGF1', 'score': 13.42}, {'connected_gene': 'LOC107985899', 'score': 12.62}, {'connected_gene': 'MOB1A', 'score': 10.32}, {'connected_gene': 'INO80B', 'score': 9.72}]
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 GH02I074289 74289907 74292156 0.89 [{'connected_gene': 'ENSG00000270571', 'score': 20.03}, {'connected_gene': 'MOGS', 'score': 17.31}, {'connected_gene': 'TTC31', 'score': 16.17}, {'connected_gene': 'DUSP11', 'score': 13.85}, {'connected_gene': 'AUP1', 'score': 13.8}, {'connected_gene': 'ENSG00000273245', 'score': 13.46}, {'connected_gene': 'PCGF1', 'score': 12.18}, {'connected_gene': 'CCDC142', 'score': 11.75}, {'connected_gene': 'SLC4A5', 'score': 11.03}, {'connected_gene': 'MOB1A', 'score': 9.83}, {'connected_gene': 'DCTN1', 'score': 4.71}, {'connected_gene': 'KRT18P26', 'score': 0.37}, {'connected_gene': 'ENSG00000264324', 'score': 0.19}, {'connected_gene': 'GC02P074217', 'score': 0.19}]
chr2 GH02I073987 73987534 73987723 0.87 [{'connected_gene': 'PIR31933', 'score': 550.77}, {'connected_gene': 'TTC31', 'score': 20.53}, {'connected_gene': 'AUP1', 'score': 17.0}, {'connected_gene': 'MOGS', 'score': 14.37}, {'connected_gene': 'CCDC142', 'score': 14.04}, {'connected_gene': 'ENSG00000273245', 'score': 13.75}, {'connected_gene': 'DUSP11', 'score': 13.59}, {'connected_gene': 'PCGF1', 'score': 13.4}, {'connected_gene': 'MOB1A', 'score': 10.11}, {'connected_gene': 'INO80B', 'score': 9.71}, {'connected_gene': 'TET3', 'score': 0.77}, {'connected_gene': 'ENSG00000279181', 'score': 0.39}]
chr2 GH02I074372 74372730 74375248 1.62 [{'connected_gene': 'GC02M074371', 'score': 550.77}, {'connected_gene': 'DCTN1', 'score': 550.37}, {'connected_gene': 'SLC4A5', 'score': 11.28}, {'connected_gene': 'C2orf81', 'score': 10.67}, {'connected_gene': 'WDR54', 'score': 10.67}, {'connected_gene': 'ENSG00000159239', 'score': 10.67}, {'connected_gene': 'RTKN', 'score': 10.63}, {'connected_gene': 'BOLA3', 'score': 9.91}, {'connected_gene': 'BOLA3-AS1', 'score': 9.91}, {'connected_gene': 'ENSG00000272183', 'score': 7.63}, {'connected_gene': 'MOGS', 'score': 5.04}, {'connected_gene': 'ENSG00000264324', 'score': 0.39}]
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}]

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