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
ENST00000370332 [[92940318, 92941764], [92944144, 92944310], [92945904, 92946042], [92946157, 92946645], [92948420, 92948603], [92948929, 92949143], [92949291, 92949511]] [[92941585, 92941764], [92944144, 92944310], [92945904, 92946042], [92946157, 92946645], [92948420, 92948603], [92948929, 92949044]]
ENST00000427103 [[92940318, 92941764], [92944144, 92944310], [92945904, 92946042], [92946157, 92946645], [92948420, 92948603], [92948929, 92949143], [92951570, 92951628]] [[92941585, 92941764], [92944144, 92944310], [92945904, 92946042], [92946157, 92946645], [92948420, 92948603], [92948929, 92949044]]
ENST00000294702 [[92940320, 92941764], [92944144, 92944310], [92945904, 92946042], [92946157, 92946645], [92948420, 92948603], [92948929, 92949143], [92952282, 92952433]] [[92941585, 92941764], [92944144, 92944310], [92945904, 92946042], [92946157, 92946645], [92948420, 92948603], [92948929, 92949044]]
ENST00000483490 [[92948546, 92948603], [92948929, 92949143], [92950002, 92950239]] None
NM_001127215 [[92940317, 92941764], [92944144, 92944310], [92945904, 92946042], [92946157, 92946645], [92948420, 92948603], [92948929, 92949143], [92949291, 92949356]] [[92941585, 92941764], [92944144, 92944310], [92945904, 92946042], [92946157, 92946645], [92948420, 92948603], [92948929, 92949044]]
NM_001127216 [[92940317, 92941764], [92944144, 92944310], [92945904, 92946042], [92946157, 92946645], [92948420, 92948603], [92948929, 92949143], [92951570, 92951628]] [[92941585, 92941764], [92944144, 92944310], [92945904, 92946042], [92946157, 92946645], [92948420, 92948603], [92948929, 92949044]]
NM_005263 [[92940317, 92941764], [92944144, 92944310], [92945904, 92946042], [92946157, 92946645], [92948420, 92948603], [92948929, 92949143], [92952282, 92952433]] [[92941585, 92941764], [92944144, 92944310], [92945904, 92946042], [92946157, 92946645], [92948420, 92948603], [92948929, 92949044]]
Promoter
Chrom Start End Description
chr1 92949195 92949210 CAGE_peak_7_at_GFI1_5end
chr1 92949213 92949223 CAGE_peak_9_at_GFI1_5end
chr1 92949331 92949377 CAGE_peak_2_at_GFI1_5end
chr1 92949505 92949543 CAGE_peak_5_at_GFI1_5end
chr1 92950138 92950159 CAGE_peak_4_at_GFI1_5end
chr1 92951607 92951661 CAGE_peak_1_at_GFI1_5end
chr1 92952473 92952489 CAGE_peak_3_at_GFI1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I092494 92494225 92496808 0.62 [{'connected_gene': 'EVI5', 'score': 15.85}, {'connected_gene': 'GFI1', 'score': 0.44}, {'connected_gene': 'GC01P092511', 'score': 0.37}]
chr1 GH01I092502 92502065 92502853 0.38 [{'connected_gene': 'EVI5', 'score': 13.75}, {'connected_gene': 'GC01P092511', 'score': 0.44}, {'connected_gene': 'GFI1', 'score': 0.37}]
chr1 GH01I092473 92473764 92474804 0.83 [{'connected_gene': 'EVI5', 'score': 4.72}, {'connected_gene': 'GC01P092471', 'score': 0.77}, {'connected_gene': 'GFI1', 'score': 0.39}]
chr1 GH01I092474 92474980 92477474 1.02 [{'connected_gene': 'EVI5', 'score': 15.58}, {'connected_gene': 'LOC100289500', 'score': 5.37}, {'connected_gene': 'GC01P092471', 'score': 0.77}, {'connected_gene': 'GFI1', 'score': 0.39}]
chr1 GH01I092503 92503772 92506367 1.08 [{'connected_gene': 'FAM69A', 'score': 28.89}, {'connected_gene': 'EVI5', 'score': 17.58}, {'connected_gene': 'GC01P092511', 'score': 0.44}, {'connected_gene': 'GFI1', 'score': 0.37}]
chr1 GH01I092536 92536097 92539244 1.63 [{'connected_gene': 'SNORA66', 'score': 17.61}, {'connected_gene': 'EVI5', 'score': 15.51}, {'connected_gene': 'CCDC18-AS1', 'score': 13.49}, {'connected_gene': 'SNORD21', 'score': 12.39}, {'connected_gene': 'RPL5', 'score': 11.5}, {'connected_gene': 'FAM69A', 'score': 10.51}, {'connected_gene': 'RPAP2', 'score': 3.08}, {'connected_gene': 'GLMN', 'score': 2.89}, {'connected_gene': 'GFI1', 'score': 2.06}, {'connected_gene': 'GC01P092533', 'score': 0.77}, {'connected_gene': 'GC01P092559', 'score': 0.34}]
chr1 GH01I091608 91608504 91612577 0.95 [{'connected_gene': 'GFI1', 'score': 4.8}, {'connected_gene': 'GC01P091601', 'score': 0.44}, {'connected_gene': 'HSP90B3P', 'score': 0.29}]
chr1 GH01I092482 92482232 92487537 2.44 [{'connected_gene': 'GFI1', 'score': 553.87}, {'connected_gene': 'MTF2', 'score': 32.51}, {'connected_gene': 'FAM69A', 'score': 28.84}, {'connected_gene': 'EVI5', 'score': 17.16}, {'connected_gene': 'CCDC18-AS1', 'score': 16.11}, {'connected_gene': 'SNORA66', 'score': 13.77}, {'connected_gene': 'GLMN', 'score': 12.3}, {'connected_gene': 'SNORD21', 'score': 10.54}, {'connected_gene': 'CCDC18', 'score': 10.22}, {'connected_gene': 'ENSG00000189195', 'score': 9.71}, {'connected_gene': 'GC01P092471', 'score': 0.39}]
chr1 GH01I092487 92487685 92488102 0.38 [{'connected_gene': 'GFI1', 'score': 550.77}, {'connected_gene': 'GC01P092511', 'score': 0.34}]
chr1 GH01I092493 92493614 92494187 0.2 [{'connected_gene': 'GFI1', 'score': 0.44}, {'connected_gene': 'GC01P092511', 'score': 0.37}]

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