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
ENST00000409429 [[74776152, 74776299], [74782280, 74782580], [74782701, 74782795], [74783020, 74783205], [74783434, 74784663]] [[74782758, 74782795], [74783020, 74783205], [74783434, 74784241]]
ENST00000485132 [[74776197, 74776299], [74776539, 74776698], [74781920, 74781986], [74782280, 74782514]] None
ENST00000233668 [[74781212, 74781941], [74782280, 74782580], [74782701, 74782795], [74783020, 74783205], [74783434, 74784681]] [[74781881, 74781941], [74782280, 74782580], [74782701, 74782795], [74783020, 74783205], [74783434, 74784241]]
ENST00000488613 [[74781286, 74781674], [74781848, 74781941], [74782282, 74782358]] None
ENST00000340004 [[74781857, 74781941], [74782280, 74782580], [74782701, 74782795], [74783434, 74784678]] [[74781881, 74781941], [74782280, 74782580], [74782701, 74782795], [74783434, 74783514]]
ENST00000489958 [[74781860, 74781941], [74782282, 74782580], [74782705, 74782795], [74783434, 74784312]] None
ENST00000482206 [[74781864, 74781986], [74782280, 74782724]] None
ENST00000474924 [[74781864, 74781941], [74782280, 74782763]] None
ENST00000480318 [[74781864, 74781941], [74782282, 74782580], [74782701, 74782795], [74783020, 74783205], [74783434, 74784241]] None
ENST00000496966 [[74781868, 74781941], [74782280, 74782409], [74783020, 74783205], [74783434, 74783903]] None
ENST00000475191 [[74781876, 74781986], [74782282, 74782580], [74782701, 74782795], [74783020, 74783053]] None
ENST00000464613 [[74782258, 74782580], [74782701, 74782795], [74783020, 74783205], [74783434, 74784640]] None
ENST00000429631 [[74782332, 74782580], [74783020, 74783205], [74783434, 74783748]] [[74782332, 74782580], [74783020, 74783038]]
NM_001197260 [[74776146, 74776299], [74782280, 74782580], [74782701, 74782795], [74783020, 74783205], [74783434, 74784678]] [[74782758, 74782795], [74783020, 74783205], [74783434, 74784241]]
NM_001318869 [[74781286, 74781941], [74782282, 74782580], [74782705, 74782795], [74783434, 74784678]] [[74783437, 74784241]]
NM_001318866 [[74781286, 74781941], [74782282, 74782580], [74782701, 74782795], [74783020, 74783205], [74783434, 74784678]] [[74782758, 74782795], [74783020, 74783205], [74783434, 74784241]]
NM_001318868 [[74781286, 74781941], [74782280, 74782580], [74782701, 74782795], [74783434, 74784678]] [[74781881, 74781941], [74782280, 74782580], [74782701, 74782795], [74783434, 74783514]]
NM_001381 [[74781286, 74781941], [74782280, 74782580], [74782701, 74782795], [74783020, 74783205], [74783434, 74784678]] [[74781881, 74781941], [74782280, 74782580], [74782701, 74782795], [74783020, 74783205], [74783434, 74784241]]
NM_001318867 [[74781286, 74781986], [74782282, 74782580], [74782701, 74782795], [74783020, 74783205], [74783434, 74784678]] [[74781957, 74781986], [74782282, 74782580], [74782701, 74782795], [74783020, 74783205], [74783434, 74784241]]
Promoter
Chrom Start End Description
chr2 74781506 74781519 CAGE_peak_2_at_DOK1_5end
chr2 74781828 74781898 CAGE_peak_1_at_DOK1_5end
chr2 74781921 74781933 CAGE_peak_14_at_DOK1_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 GH02I074587 74587600 74588001 0.98 [{'connected_gene': 'LBX2', 'score': 22.32}, {'connected_gene': 'DOK1', 'score': 15.79}, {'connected_gene': 'MRPL53', 'score': 11.92}, {'connected_gene': 'HTRA2', 'score': 11.41}, {'connected_gene': 'AUP1', 'score': 11.41}, {'connected_gene': 'PCGF1', 'score': 11.4}, {'connected_gene': 'DQX1', 'score': 11.16}, {'connected_gene': 'LOXL3', 'score': 11.13}, {'connected_gene': 'CCDC142', 'score': 11.11}, {'connected_gene': 'TTC31', 'score': 11.11}, {'connected_gene': 'TLX2', 'score': 10.98}, {'connected_gene': 'M1AP', 'score': 10.01}, {'connected_gene': 'SEMA4F', 'score': 10.0}, {'connected_gene': 'GC02M074608', 'score': 0.37}, {'connected_gene': 'GC02M074606', 'score': 0.37}]
chr2 GH02I074538 74538873 74539877 0.9 [{'connected_gene': 'PCGF1', 'score': 11.18}, {'connected_gene': 'LBX2', 'score': 11.16}, {'connected_gene': 'TLX2', 'score': 10.93}, {'connected_gene': 'DOK1', 'score': 0.44}, {'connected_gene': 'AUP1', 'score': 0.44}, {'connected_gene': 'LOXL3', 'score': 0.37}]
chr2 GH02I074583 74583142 74584763 1.32 [{'connected_gene': 'LOXL3', 'score': 12.01}, {'connected_gene': 'DOK1', 'score': 11.78}, {'connected_gene': 'HTRA2', 'score': 11.63}, {'connected_gene': 'AUP1', 'score': 11.63}, {'connected_gene': 'TLX2', 'score': 11.34}, {'connected_gene': 'PCGF1', 'score': 11.33}, {'connected_gene': 'CCDC142', 'score': 11.26}, {'connected_gene': 'TTC31', 'score': 11.26}, {'connected_gene': 'DQX1', 'score': 11.12}, {'connected_gene': 'LBX2', 'score': 10.95}, {'connected_gene': 'M1AP', 'score': 10.33}, {'connected_gene': 'SEMA4F', 'score': 10.31}, {'connected_gene': 'INO80B', 'score': 4.57}, {'connected_gene': 'GC02M074608', 'score': 0.34}, {'connected_gene': 'GC02M074606', 'score': 0.34}]
chr2 GH02I074556 74556850 74557846 0.31 [{'connected_gene': 'LOXL3', 'score': 550.77}, {'connected_gene': 'DOK1', 'score': 0.44}, {'connected_gene': 'GC02M074608', 'score': 0.25}, {'connected_gene': 'GC02M074606', 'score': 0.25}]
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 GH02I074585 74585401 74585800 0.8 [{'connected_gene': 'DOK1', 'score': 16.79}, {'connected_gene': 'LOXL3', 'score': 12.01}, {'connected_gene': 'HTRA2', 'score': 11.62}, {'connected_gene': 'AUP1', 'score': 11.62}, {'connected_gene': 'TLX2', 'score': 11.34}, {'connected_gene': 'PCGF1', 'score': 11.33}, {'connected_gene': 'CCDC142', 'score': 11.26}, {'connected_gene': 'TTC31', 'score': 11.26}, {'connected_gene': 'DQX1', 'score': 11.12}, {'connected_gene': 'LBX2', 'score': 10.95}, {'connected_gene': 'M1AP', 'score': 10.33}, {'connected_gene': 'SEMA4F', 'score': 10.32}, {'connected_gene': 'GC02M074608', 'score': 0.37}, {'connected_gene': 'GC02M074606', 'score': 0.37}]
chr2 GH02I074575 74575378 74578799 1.4 [{'connected_gene': 'DOK1', 'score': 18.07}, {'connected_gene': 'LOXL3', 'score': 12.36}, {'connected_gene': 'HTRA2', 'score': 11.69}, {'connected_gene': 'AUP1', 'score': 11.69}, {'connected_gene': 'DQX1', 'score': 11.07}, {'connected_gene': 'TLX2', 'score': 11.03}, {'connected_gene': 'PCGF1', 'score': 11.02}, {'connected_gene': 'LBX2', 'score': 10.94}, {'connected_gene': 'CCDC142', 'score': 10.9}, {'connected_gene': 'TTC31', 'score': 10.9}, {'connected_gene': 'RTKN', 'score': 10.38}, {'connected_gene': 'C2orf81', 'score': 9.78}, {'connected_gene': 'WDR54', 'score': 9.78}, {'connected_gene': 'ENSG00000159239', 'score': 9.78}, {'connected_gene': 'MOB1A', 'score': 1.26}, {'connected_gene': 'GC02M074608', 'score': 0.31}, {'connected_gene': 'GC02M074606', 'score': 0.31}, {'connected_gene': 'M1AP', 'score': 0.19}]
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 GH02I074548 74548306 74550165 2.12 [{'connected_gene': 'DOK1', 'score': 550.77}, {'connected_gene': 'M1AP', 'score': 4.54}, {'connected_gene': 'INO80B', 'score': 4.51}, {'connected_gene': 'LOXL3', 'score': 0.44}]
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}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.